CINXE.COM

<!DOCTYPE html> <html class="client-nojs vector-feature-language-in-header-enabled vector-feature-language-in-main-page-header-disabled vector-feature-sticky-header-disabled vector-feature-page-tools-pinned-disabled vector-feature-toc-pinned-clientpref-1 vector-feature-main-menu-pinned-disabled vector-feature-limited-width-clientpref-1 vector-feature-limited-width-content-enabled vector-feature-custom-font-size-clientpref-1 vector-feature-appearance-pinned-clientpref-1 vector-feature-night-mode-enabled skin-theme-clientpref-day vector-toc-available" lang="en" dir="ltr"> <head> <meta charset="UTF-8"> <title>DiGeorge syndrome - Wikipedia</title> <script>(function(){var className="client-js vector-feature-language-in-header-enabled vector-feature-language-in-main-page-header-disabled vector-feature-sticky-header-disabled vector-feature-page-tools-pinned-disabled vector-feature-toc-pinned-clientpref-1 vector-feature-main-menu-pinned-disabled vector-feature-limited-width-clientpref-1 vector-feature-limited-width-content-enabled vector-feature-custom-font-size-clientpref-1 vector-feature-appearance-pinned-clientpref-1 vector-feature-night-mode-enabled skin-theme-clientpref-day vector-toc-available";var cookie=document.cookie.match(/(?:^|; )enwikimwclientpreferences=([^;]+)/);if(cookie){cookie[1].split('%2C').forEach(function(pref){className=className.replace(new RegExp('(^| )'+pref.replace(/-clientpref-\w+$|[^\w-]+/g,'')+'-clientpref-\\w+( |$)'),'$1'+pref+'$2');});}document.documentElement.className=className;}());RLCONF={"wgBreakFrames":false,"wgSeparatorTransformTable":["",""],"wgDigitTransformTable":["",""],"wgDefaultDateFormat":"dmy", "wgMonthNames":["","January","February","March","April","May","June","July","August","September","October","November","December"],"wgRequestId":"73d452eb-829b-49cc-9845-7f4edc170790","wgCanonicalNamespace":"","wgCanonicalSpecialPageName":false,"wgNamespaceNumber":0,"wgPageName":"DiGeorge_syndrome","wgTitle":"DiGeorge syndrome","wgCurRevisionId":1233227644,"wgRevisionId":1233227644,"wgArticleId":72131494,"wgIsArticle":true,"wgIsRedirect":false,"wgAction":"view","wgUserName":null,"wgUserGroups":["*"],"wgCategories":["All pages needing factual verification","Wikipedia articles needing factual verification from April 2015","CS1: long volume value","Articles with short description","Short description is different from Wikidata","All articles with unsourced statements","Articles with unsourced statements from May 2022","Articles contradicting other articles","Pages with plain IPA","Articles with unsourced statements from September 2023","Articles with unsourced statements from June 2017", "Commons category link from Wikidata","Wikipedia medicine articles ready to translate","Autosomal dominant disorders","IUIS-PID table 3 immunodeficiencies","Noninfectious immunodeficiency-related cutaneous conditions","Syndromes affecting the heart","Autosomal monosomies and deletions","Genetic anomalies","Syndromes affecting teeth","Syndromic autism","Syndromes with craniofacial abnormalities","Medical mnemonics"],"wgPageViewLanguage":"en","wgPageContentLanguage":"en","wgPageContentModel":"wikitext","wgRelevantPageName":"DiGeorge_syndrome","wgRelevantArticleId":72131494,"wgIsProbablyEditable":true,"wgRelevantPageIsProbablyEditable":true,"wgRestrictionEdit":[],"wgRestrictionMove":[],"wgNoticeProject":"wikipedia","wgCiteReferencePreviewsActive":false,"wgFlaggedRevsParams":{"tags":{"status":{"levels":1}}},"wgMediaViewerOnClick":true,"wgMediaViewerEnabledByDefault":true,"wgPopupsFlags":0,"wgVisualEditor":{"pageLanguageCode":"en","pageLanguageDir":"ltr","pageVariantFallbacks":"en"}, "wgMFDisplayWikibaseDescriptions":{"search":true,"watchlist":true,"tagline":false,"nearby":true},"wgWMESchemaEditAttemptStepOversample":false,"wgWMEPageLength":50000,"wgRelatedArticlesCompat":[],"wgCentralAuthMobileDomain":false,"wgEditSubmitButtonLabelPublish":true,"wgULSPosition":"interlanguage","wgULSisCompactLinksEnabled":false,"wgVector2022LanguageInHeader":true,"wgULSisLanguageSelectorEmpty":false,"wgWikibaseItemId":"Q525642","wgCheckUserClientHintsHeadersJsApi":["brands","architecture","bitness","fullVersionList","mobile","model","platform","platformVersion"],"GEHomepageSuggestedEditsEnableTopics":true,"wgGETopicsMatchModeEnabled":false,"wgGEStructuredTaskRejectionReasonTextInputEnabled":false,"wgGELevelingUpEnabledForUser":false};RLSTATE={"ext.globalCssJs.user.styles":"ready","site.styles":"ready","user.styles":"ready","ext.globalCssJs.user":"ready","user":"ready","user.options":"loading","ext.cite.styles":"ready","skins.vector.search.codex.styles":"ready","skins.vector.styles" :"ready","skins.vector.icons":"ready","jquery.makeCollapsible.styles":"ready","ext.wikimediamessages.styles":"ready","ext.visualEditor.desktopArticleTarget.noscript":"ready","ext.uls.interlanguage":"ready","wikibase.client.init":"ready","ext.wikimediaBadges":"ready"};RLPAGEMODULES=["ext.cite.ux-enhancements","mediawiki.page.media","site","mediawiki.page.ready","jquery.makeCollapsible","mediawiki.toc","skins.vector.js","ext.centralNotice.geoIP","ext.centralNotice.startUp","ext.gadget.ReferenceTooltips","ext.gadget.switcher","ext.urlShortener.toolbar","ext.centralauth.centralautologin","mmv.bootstrap","ext.popups","ext.visualEditor.desktopArticleTarget.init","ext.visualEditor.targetLoader","ext.echo.centralauth","ext.eventLogging","ext.wikimediaEvents","ext.navigationTiming","ext.uls.interface","ext.cx.eventlogging.campaigns","ext.cx.uls.quick.actions","wikibase.client.vector-2022","ext.checkUser.clientHints","ext.growthExperiments.SuggestedEditSession","wikibase.sidebar.tracking"];</script> <script>(RLQ=window.RLQ||[]).push(function(){mw.loader.impl(function(){return["user.options@12s5i",function($,jQuery,require,module){mw.user.tokens.set({"patrolToken":"+\\","watchToken":"+\\","csrfToken":"+\\"}); }];});});</script> <link rel="stylesheet" href="/w/load.php?lang=en&modules=ext.cite.styles%7Cext.uls.interlanguage%7Cext.visualEditor.desktopArticleTarget.noscript%7Cext.wikimediaBadges%7Cext.wikimediamessages.styles%7Cjquery.makeCollapsible.styles%7Cskins.vector.icons%2Cstyles%7Cskins.vector.search.codex.styles%7Cwikibase.client.init&only=styles&skin=vector-2022"> <script async="" src="/w/load.php?lang=en&modules=startup&only=scripts&raw=1&skin=vector-2022"></script> <meta name="ResourceLoaderDynamicStyles" content=""> <link rel="stylesheet" href="/w/load.php?lang=en&modules=site.styles&only=styles&skin=vector-2022"> <meta name="generator" content="MediaWiki 1.44.0-wmf.4"> <meta name="referrer" content="origin"> <meta name="referrer" content="origin-when-cross-origin"> <meta name="robots" content="max-image-preview:standard"> <meta name="format-detection" content="telephone=no"> <meta property="og:image" content="https://upload.wikimedia.org/wikipedia/commons/c/cb/DiGeorge_syndrome1.jpg"> <meta property="og:image:width" content="1200"> <meta property="og:image:height" content="1219"> <meta property="og:image" content="https://upload.wikimedia.org/wikipedia/commons/c/cb/DiGeorge_syndrome1.jpg"> <meta property="og:image:width" content="800"> <meta property="og:image:height" content="812"> <meta property="og:image:width" content="640"> <meta property="og:image:height" content="650"> <meta name="viewport" content="width=1120"> <meta property="og:title" content="DiGeorge syndrome - Wikipedia"> <meta property="og:type" content="website"> <link rel="preconnect" href="//upload.wikimedia.org"> <link rel="alternate" media="only screen and (max-width: 640px)" href="//en.m.wikipedia.org/wiki/DiGeorge_syndrome"> <link rel="alternate" type="application/x-wiki" title="Edit this page" href="/w/index.php?title=DiGeorge_syndrome&action=edit"> <link rel="apple-touch-icon" href="/static/apple-touch/wikipedia.png"> <link rel="icon" href="/static/favicon/wikipedia.ico"> <link rel="search" type="application/opensearchdescription+xml" href="/w/rest.php/v1/search" title="Wikipedia (en)"> <link rel="EditURI" type="application/rsd+xml" href="//en.wikipedia.org/w/api.php?action=rsd"> <link rel="canonical" href="https://en.wikipedia.org/wiki/DiGeorge_syndrome"> <link rel="license" href="https://creativecommons.org/licenses/by-sa/4.0/deed.en"> <link rel="alternate" type="application/atom+xml" title="Wikipedia Atom feed" href="/w/index.php?title=Special:RecentChanges&feed=atom"> <link rel="dns-prefetch" href="//meta.wikimedia.org" /> <link rel="dns-prefetch" href="//login.wikimedia.org"> </head> <body class="skin--responsive skin-vector skin-vector-search-vue mediawiki ltr sitedir-ltr mw-hide-empty-elt ns-0 ns-subject mw-editable page-DiGeorge_syndrome rootpage-DiGeorge_syndrome skin-vector-2022 action-view"><a class="mw-jump-link" href="#bodyContent">Jump to content</a> <div class="vector-header-container"> <header class="vector-header mw-header"> <div class="vector-header-start"> <nav class="vector-main-menu-landmark" aria-label="Site"> <div id="vector-main-menu-dropdown" class="vector-dropdown vector-main-menu-dropdown vector-button-flush-left vector-button-flush-right" > <input type="checkbox" id="vector-main-menu-dropdown-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-main-menu-dropdown" class="vector-dropdown-checkbox " aria-label="Main menu" > <label id="vector-main-menu-dropdown-label" for="vector-main-menu-dropdown-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" ><span class="vector-icon mw-ui-icon-menu mw-ui-icon-wikimedia-menu"></span> <span class="vector-dropdown-label-text">Main menu</span> </label> <div class="vector-dropdown-content"> <div id="vector-main-menu-unpinned-container" class="vector-unpinned-container"> <div id="vector-main-menu" class="vector-main-menu vector-pinnable-element"> <div class="vector-pinnable-header vector-main-menu-pinnable-header vector-pinnable-header-unpinned" data-feature-name="main-menu-pinned" data-pinnable-element-id="vector-main-menu" data-pinned-container-id="vector-main-menu-pinned-container" data-unpinned-container-id="vector-main-menu-unpinned-container" > <div class="vector-pinnable-header-label">Main menu</div> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-pin-button" data-event-name="pinnable-header.vector-main-menu.pin">move to sidebar</button> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-unpin-button" data-event-name="pinnable-header.vector-main-menu.unpin">hide</button> </div> <div id="p-navigation" class="vector-menu mw-portlet mw-portlet-navigation" > <div class="vector-menu-heading"> Navigation </div> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="n-mainpage-description" class="mw-list-item"><a href="/wiki/Main_Page" title="Visit the main page [z]" accesskey="z"><span>Main page</span></a></li><li id="n-contents" class="mw-list-item"><a href="/wiki/Wikipedia:Contents" title="Guides to browsing Wikipedia"><span>Contents</span></a></li><li id="n-currentevents" class="mw-list-item"><a href="/wiki/Portal:Current_events" title="Articles related to current events"><span>Current events</span></a></li><li id="n-randompage" class="mw-list-item"><a href="/wiki/Special:Random" title="Visit a randomly selected article [x]" accesskey="x"><span>Random article</span></a></li><li id="n-aboutsite" class="mw-list-item"><a href="/wiki/Wikipedia:About" title="Learn about Wikipedia and how it works"><span>About Wikipedia</span></a></li><li id="n-contactpage" class="mw-list-item"><a href="//en.wikipedia.org/wiki/Wikipedia:Contact_us" title="How to contact Wikipedia"><span>Contact us</span></a></li> </ul> </div> </div> <div id="p-interaction" class="vector-menu mw-portlet mw-portlet-interaction" > <div class="vector-menu-heading"> Contribute </div> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="n-help" class="mw-list-item"><a href="/wiki/Help:Contents" title="Guidance on how to use and edit Wikipedia"><span>Help</span></a></li><li id="n-introduction" class="mw-list-item"><a href="/wiki/Help:Introduction" title="Learn how to edit Wikipedia"><span>Learn to edit</span></a></li><li id="n-portal" class="mw-list-item"><a href="/wiki/Wikipedia:Community_portal" title="The hub for editors"><span>Community portal</span></a></li><li id="n-recentchanges" class="mw-list-item"><a href="/wiki/Special:RecentChanges" title="A list of recent changes to Wikipedia [r]" accesskey="r"><span>Recent changes</span></a></li><li id="n-upload" class="mw-list-item"><a href="/wiki/Wikipedia:File_upload_wizard" title="Add images or other media for use on Wikipedia"><span>Upload file</span></a></li> </ul> </div> </div> </div> </div> </div> </div> </nav> <a href="/wiki/Main_Page" class="mw-logo"> <img class="mw-logo-icon" src="/static/images/icons/wikipedia.png" alt="" aria-hidden="true" height="50" width="50"> <span class="mw-logo-container skin-invert"> <img class="mw-logo-wordmark" alt="Wikipedia" src="/static/images/mobile/copyright/wikipedia-wordmark-en.svg" style="width: 7.5em; height: 1.125em;"> <img class="mw-logo-tagline" alt="The Free Encyclopedia" src="/static/images/mobile/copyright/wikipedia-tagline-en.svg" width="117" height="13" style="width: 7.3125em; height: 0.8125em;"> </span> </a> </div> <div class="vector-header-end"> <div id="p-search" role="search" class="vector-search-box-vue vector-search-box-collapses vector-search-box-show-thumbnail vector-search-box-auto-expand-width vector-search-box"> <a href="/wiki/Special:Search" class="cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only search-toggle" title="Search Wikipedia [f]" accesskey="f"><span class="vector-icon mw-ui-icon-search mw-ui-icon-wikimedia-search"></span> <span>Search</span> </a> <div class="vector-typeahead-search-container"> <div class="cdx-typeahead-search cdx-typeahead-search--show-thumbnail cdx-typeahead-search--auto-expand-width"> <form action="/w/index.php" id="searchform" class="cdx-search-input cdx-search-input--has-end-button"> <div id="simpleSearch" class="cdx-search-input__input-wrapper" data-search-loc="header-moved"> <div class="cdx-text-input cdx-text-input--has-start-icon"> <input class="cdx-text-input__input" type="search" name="search" placeholder="Search Wikipedia" aria-label="Search Wikipedia" autocapitalize="sentences" title="Search Wikipedia [f]" accesskey="f" id="searchInput" > <span class="cdx-text-input__icon cdx-text-input__start-icon"></span> </div> <input type="hidden" name="title" value="Special:Search"> </div> <button class="cdx-button cdx-search-input__end-button">Search</button> </form> </div> </div> </div> <nav class="vector-user-links vector-user-links-wide" aria-label="Personal tools"> <div class="vector-user-links-main"> <div id="p-vector-user-menu-preferences" class="vector-menu mw-portlet emptyPortlet" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> </ul> </div> </div> <div id="p-vector-user-menu-userpage" class="vector-menu mw-portlet emptyPortlet" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> </ul> </div> </div> <nav class="vector-appearance-landmark" aria-label="Appearance"> <div id="vector-appearance-dropdown" class="vector-dropdown " title="Change the appearance of the page's font size, width, and color" > <input type="checkbox" id="vector-appearance-dropdown-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-appearance-dropdown" class="vector-dropdown-checkbox " aria-label="Appearance" > <label id="vector-appearance-dropdown-label" for="vector-appearance-dropdown-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" ><span class="vector-icon mw-ui-icon-appearance mw-ui-icon-wikimedia-appearance"></span> <span class="vector-dropdown-label-text">Appearance</span> </label> <div class="vector-dropdown-content"> <div id="vector-appearance-unpinned-container" class="vector-unpinned-container"> </div> </div> </div> </nav> <div id="p-vector-user-menu-notifications" class="vector-menu mw-portlet emptyPortlet" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> </ul> </div> </div> <div id="p-vector-user-menu-overflow" class="vector-menu mw-portlet" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="pt-sitesupport-2" class="user-links-collapsible-item mw-list-item user-links-collapsible-item"><a data-mw="interface" href="https://donate.wikimedia.org/wiki/Special:FundraiserRedirector?utm_source=donate&utm_medium=sidebar&utm_campaign=C13_en.wikipedia.org&uselang=en" class=""><span>Donate</span></a> </li> <li id="pt-createaccount-2" class="user-links-collapsible-item mw-list-item user-links-collapsible-item"><a data-mw="interface" href="/w/index.php?title=Special:CreateAccount&returnto=DiGeorge+syndrome" title="You are encouraged to create an account and log in; however, it is not mandatory" class=""><span>Create account</span></a> </li> <li id="pt-login-2" class="user-links-collapsible-item mw-list-item user-links-collapsible-item"><a data-mw="interface" href="/w/index.php?title=Special:UserLogin&returnto=DiGeorge+syndrome" title="You're encouraged to log in; however, it's not mandatory. [o]" accesskey="o" class=""><span>Log in</span></a> </li> </ul> </div> </div> </div> <div id="vector-user-links-dropdown" class="vector-dropdown vector-user-menu vector-button-flush-right vector-user-menu-logged-out" title="Log in and more options" > <input type="checkbox" id="vector-user-links-dropdown-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-user-links-dropdown" class="vector-dropdown-checkbox " aria-label="Personal tools" > <label id="vector-user-links-dropdown-label" for="vector-user-links-dropdown-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" ><span class="vector-icon mw-ui-icon-ellipsis mw-ui-icon-wikimedia-ellipsis"></span> <span class="vector-dropdown-label-text">Personal tools</span> </label> <div class="vector-dropdown-content"> <div id="p-personal" class="vector-menu mw-portlet mw-portlet-personal user-links-collapsible-item" title="User menu" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="pt-sitesupport" class="user-links-collapsible-item mw-list-item"><a href="https://donate.wikimedia.org/wiki/Special:FundraiserRedirector?utm_source=donate&utm_medium=sidebar&utm_campaign=C13_en.wikipedia.org&uselang=en"><span>Donate</span></a></li><li id="pt-createaccount" class="user-links-collapsible-item mw-list-item"><a href="/w/index.php?title=Special:CreateAccount&returnto=DiGeorge+syndrome" title="You are encouraged to create an account and log in; however, it is not mandatory"><span class="vector-icon mw-ui-icon-userAdd mw-ui-icon-wikimedia-userAdd"></span> <span>Create account</span></a></li><li id="pt-login" class="user-links-collapsible-item mw-list-item"><a href="/w/index.php?title=Special:UserLogin&returnto=DiGeorge+syndrome" title="You're encouraged to log in; however, it's not mandatory. [o]" accesskey="o"><span class="vector-icon mw-ui-icon-logIn mw-ui-icon-wikimedia-logIn"></span> <span>Log in</span></a></li> </ul> </div> </div> <div id="p-user-menu-anon-editor" class="vector-menu mw-portlet mw-portlet-user-menu-anon-editor" > <div class="vector-menu-heading"> Pages for logged out editors <a href="/wiki/Help:Introduction" aria-label="Learn more about editing"><span>learn more</span></a> </div> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="pt-anoncontribs" class="mw-list-item"><a href="/wiki/Special:MyContributions" title="A list of edits made from this IP address [y]" accesskey="y"><span>Contributions</span></a></li><li id="pt-anontalk" class="mw-list-item"><a href="/wiki/Special:MyTalk" title="Discussion about edits from this IP address [n]" accesskey="n"><span>Talk</span></a></li> </ul> </div> </div> </div> </div> </nav> </div> </header> </div> <div class="mw-page-container"> <div class="mw-page-container-inner"> <div class="vector-sitenotice-container"> <div id="siteNotice"></div> </div> <div class="vector-column-start"> <div class="vector-main-menu-container"> <div id="mw-navigation"> <nav id="mw-panel" class="vector-main-menu-landmark" aria-label="Site"> <div id="vector-main-menu-pinned-container" class="vector-pinned-container"> </div> </nav> </div> </div> <div class="vector-sticky-pinned-container"> <nav id="mw-panel-toc" aria-label="Contents" data-event-name="ui.sidebar-toc" class="mw-table-of-contents-container vector-toc-landmark"> <div id="vector-toc-pinned-container" class="vector-pinned-container"> <div id="vector-toc" class="vector-toc vector-pinnable-element"> <div class="vector-pinnable-header vector-toc-pinnable-header vector-pinnable-header-pinned" data-feature-name="toc-pinned" data-pinnable-element-id="vector-toc" > <h2 class="vector-pinnable-header-label">Contents</h2> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-pin-button" data-event-name="pinnable-header.vector-toc.pin">move to sidebar</button> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-unpin-button" data-event-name="pinnable-header.vector-toc.unpin">hide</button> </div> <ul class="vector-toc-contents" id="mw-panel-toc-list"> <li id="toc-mw-content-text" class="vector-toc-list-item vector-toc-level-1"> <a href="#" class="vector-toc-link"> <div class="vector-toc-text">(Top)</div> </a> </li> <li id="toc-Signs_and_symptoms" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Signs_and_symptoms"> <div class="vector-toc-text"> <span class="vector-toc-numb">1</span> <span>Signs and symptoms</span> </div> </a> <button aria-controls="toc-Signs_and_symptoms-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Signs and symptoms subsection</span> </button> <ul id="toc-Signs_and_symptoms-sublist" class="vector-toc-list"> <li id="toc-Cognitive_impairments" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Cognitive_impairments"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.1</span> <span>Cognitive impairments</span> </div> </a> <ul id="toc-Cognitive_impairments-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Speech_and_language" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Speech_and_language"> <div class="vector-toc-text"> <span class="vector-toc-numb">1.2</span> <span>Speech and language</span> </div> </a> <ul id="toc-Speech_and_language-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Genetics" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Genetics"> <div class="vector-toc-text"> <span class="vector-toc-numb">2</span> <span>Genetics</span> </div> </a> <button aria-controls="toc-Genetics-sublist" class="cdx-button cdx-button--weight-quiet cdx-button--icon-only vector-toc-toggle"> <span class="vector-icon mw-ui-icon-wikimedia-expand"></span> <span>Toggle Genetics subsection</span> </button> <ul id="toc-Genetics-sublist" class="vector-toc-list"> <li id="toc-TBX1" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#TBX1"> <div class="vector-toc-text"> <span class="vector-toc-numb">2.1</span> <span><i>TBX1</i></span> </div> </a> <ul id="toc-TBX1-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-DGCR8" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#DGCR8"> <div class="vector-toc-text"> <span class="vector-toc-numb">2.2</span> <span><i>DGCR8</i></span> </div> </a> <ul id="toc-DGCR8-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-TANGO2" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#TANGO2"> <div class="vector-toc-text"> <span class="vector-toc-numb">2.3</span> <span><i>TANGO2</i></span> </div> </a> <ul id="toc-TANGO2-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Parkinson's_disease_genes" class="vector-toc-list-item vector-toc-level-2"> <a class="vector-toc-link" href="#Parkinson's_disease_genes"> <div class="vector-toc-text"> <span class="vector-toc-numb">2.4</span> <span>Parkinson's disease genes</span> </div> </a> <ul id="toc-Parkinson's_disease_genes-sublist" class="vector-toc-list"> </ul> </li> </ul> </li> <li id="toc-Diagnosis" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Diagnosis"> <div class="vector-toc-text"> <span class="vector-toc-numb">3</span> <span>Diagnosis</span> </div> </a> <ul id="toc-Diagnosis-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Treatment" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Treatment"> <div class="vector-toc-text"> <span class="vector-toc-numb">4</span> <span>Treatment</span> </div> </a> <ul id="toc-Treatment-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Epidemiology" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Epidemiology"> <div class="vector-toc-text"> <span class="vector-toc-numb">5</span> <span>Epidemiology</span> </div> </a> <ul id="toc-Epidemiology-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Etymology" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Etymology"> <div class="vector-toc-text"> <span class="vector-toc-numb">6</span> <span>Etymology</span> </div> </a> <ul id="toc-Etymology-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-See_also" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#See_also"> <div class="vector-toc-text"> <span class="vector-toc-numb">7</span> <span>See also</span> </div> </a> <ul id="toc-See_also-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-References" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#References"> <div class="vector-toc-text"> <span class="vector-toc-numb">8</span> <span>References</span> </div> </a> <ul id="toc-References-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-External_links" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#External_links"> <div class="vector-toc-text"> <span class="vector-toc-numb">9</span> <span>External links</span> </div> </a> <ul id="toc-External_links-sublist" class="vector-toc-list"> </ul> </li> </ul> </div> </div> </nav> </div> </div> <div class="mw-content-container"> <main id="content" class="mw-body"> <header class="mw-body-header vector-page-titlebar"> <nav aria-label="Contents" class="vector-toc-landmark"> <div id="vector-page-titlebar-toc" class="vector-dropdown vector-page-titlebar-toc vector-button-flush-left" > <input type="checkbox" id="vector-page-titlebar-toc-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-page-titlebar-toc" class="vector-dropdown-checkbox " aria-label="Toggle the table of contents" > <label id="vector-page-titlebar-toc-label" for="vector-page-titlebar-toc-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--icon-only " aria-hidden="true" ><span class="vector-icon mw-ui-icon-listBullet mw-ui-icon-wikimedia-listBullet"></span> <span class="vector-dropdown-label-text">Toggle the table of contents</span> </label> <div class="vector-dropdown-content"> <div id="vector-page-titlebar-toc-unpinned-container" class="vector-unpinned-container"> </div> </div> </div> </nav> <h1 id="firstHeading" class="firstHeading mw-first-heading"><span class="mw-page-title-main">DiGeorge syndrome</span></h1> <div id="p-lang-btn" class="vector-dropdown mw-portlet mw-portlet-lang" > <input type="checkbox" id="p-lang-btn-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-p-lang-btn" class="vector-dropdown-checkbox mw-interlanguage-selector" aria-label="Go to an article in another language. Available in 35 languages" > <label id="p-lang-btn-label" for="p-lang-btn-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet cdx-button--action-progressive mw-portlet-lang-heading-35" aria-hidden="true" ><span class="vector-icon mw-ui-icon-language-progressive mw-ui-icon-wikimedia-language-progressive"></span> <span class="vector-dropdown-label-text">35 languages</span> </label> <div class="vector-dropdown-content"> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="interlanguage-link interwiki-ar mw-list-item"><a href="https://ar.wikipedia.org/wiki/%D9%85%D8%AA%D9%84%D8%A7%D8%B2%D9%85%D8%A9_%D8%AF%D9%8A_%D8%AC%D9%88%D8%B1%D8%AC" title="متلازمة دي جورج – Arabic" lang="ar" hreflang="ar" data-title="متلازمة دي جورج" data-language-autonym="العربية" data-language-local-name="Arabic" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-az mw-list-item"><a href="https://az.wikipedia.org/wiki/Di_Georq_sindromu" title="Di Georq sindromu – Azerbaijani" lang="az" hreflang="az" data-title="Di Georq sindromu" data-language-autonym="Azərbaycanca" data-language-local-name="Azerbaijani" class="interlanguage-link-target"><span>Azərbaycanca</span></a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/DiGeorgeov_sindrom" title="DiGeorgeov sindrom – Bosnian" lang="bs" hreflang="bs" data-title="DiGeorgeov sindrom" data-language-autonym="Bosanski" data-language-local-name="Bosnian" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-cs mw-list-item"><a href="https://cs.wikipedia.org/wiki/DiGeorg%C5%AFv_syndrom" title="DiGeorgův syndrom – Czech" lang="cs" hreflang="cs" data-title="DiGeorgův syndrom" data-language-autonym="Čeština" data-language-local-name="Czech" class="interlanguage-link-target"><span>Čeština</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Mikrodeletionssyndrom_22q11" title="Mikrodeletionssyndrom 22q11 – German" lang="de" hreflang="de" data-title="Mikrodeletionssyndrom 22q11" data-language-autonym="Deutsch" data-language-local-name="German" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/S%C3%ADndrome_de_DiGeorge" title="Síndrome de DiGeorge – Spanish" lang="es" hreflang="es" data-title="Síndrome de DiGeorge" data-language-autonym="Español" data-language-local-name="Spanish" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D9%86%D8%B4%D8%A7%D9%86%DA%AF%D8%A7%D9%86_%D8%AF%DB%8C_%D8%AC%D8%B1%D8%AC" title="نشانگان دی جرج – Persian" lang="fa" hreflang="fa" data-title="نشانگان دی جرج" data-language-autonym="فارسی" data-language-local-name="Persian" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Syndrome_de_d%C3%A9l%C3%A9tion_22q11.2" title="Syndrome de délétion 22q11.2 – French" lang="fr" hreflang="fr" data-title="Syndrome de délétion 22q11.2" data-language-autonym="Français" data-language-local-name="French" class="interlanguage-link-target"><span>Français</span></a></li><li class="interlanguage-link interwiki-ko mw-list-item"><a href="https://ko.wikipedia.org/wiki/%EB%94%94%EC%A1%B0%EC%A7%80_%EC%A6%9D%ED%9B%84%EA%B5%B0" title="디조지 증후군 – Korean" lang="ko" hreflang="ko" data-title="디조지 증후군" data-language-autonym="한국어" data-language-local-name="Korean" class="interlanguage-link-target"><span>한국어</span></a></li><li class="interlanguage-link interwiki-hy mw-list-item"><a href="https://hy.wikipedia.org/wiki/%D4%B4%D5%AB%D5%8B%D5%B8%D6%80%D5%BB%D5%AB_%D5%B0%D5%A1%D5%B4%D5%A1%D5%AD%D5%BF%D5%A1%D5%B6%D5%AB%D5%B7" title="ԴիՋորջի համախտանիշ – Armenian" lang="hy" hreflang="hy" data-title="ԴիՋորջի համախտանիշ" data-language-autonym="Հայերեն" data-language-local-name="Armenian" class="interlanguage-link-target"><span>Հայերեն</span></a></li><li class="interlanguage-link interwiki-hi mw-list-item"><a href="https://hi.wikipedia.org/wiki/%E0%A4%A1%E0%A4%BF%E0%A4%9C%E0%A5%89%E0%A4%B0%E0%A5%8D%E0%A4%9C_%E0%A4%B8%E0%A4%BF%E0%A4%82%E0%A4%A1%E0%A5%8D%E0%A4%B0%E0%A5%8B%E0%A4%AE" title="डिजॉर्ज सिंड्रोम – Hindi" lang="hi" hreflang="hi" data-title="डिजॉर्ज सिंड्रोम" data-language-autonym="हिन्दी" data-language-local-name="Hindi" class="interlanguage-link-target"><span>हिन्दी</span></a></li><li class="interlanguage-link interwiki-id mw-list-item"><a href="https://id.wikipedia.org/wiki/Sindrom_delesi_22q11" title="Sindrom delesi 22q11 – Indonesian" lang="id" hreflang="id" data-title="Sindrom delesi 22q11" data-language-autonym="Bahasa Indonesia" data-language-local-name="Indonesian" class="interlanguage-link-target"><span>Bahasa Indonesia</span></a></li><li class="interlanguage-link interwiki-is mw-list-item"><a href="https://is.wikipedia.org/wiki/22q11-heilkenni" title="22q11-heilkenni – Icelandic" lang="is" hreflang="is" data-title="22q11-heilkenni" data-language-autonym="Íslenska" data-language-local-name="Icelandic" class="interlanguage-link-target"><span>Íslenska</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Sindrome_da_delezione_22q11" title="Sindrome da delezione 22q11 – Italian" lang="it" hreflang="it" data-title="Sindrome da delezione 22q11" data-language-autonym="Italiano" data-language-local-name="Italian" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-he mw-list-item"><a href="https://he.wikipedia.org/wiki/%D7%AA%D7%A1%D7%9E%D7%95%D7%A0%D7%AA_%D7%93%D7%99-%D7%92%27%D7%95%D7%A8%D7%92%27" title="תסמונת די-ג'ורג' – Hebrew" lang="he" hreflang="he" data-title="תסמונת די-ג'ורג'" data-language-autonym="עברית" data-language-local-name="Hebrew" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-kk mw-list-item"><a href="https://kk.wikipedia.org/wiki/%D0%94%D0%B8-%D0%94%D0%B6%D0%BE%D1%80%D0%B4%D0%B6_%D1%81%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC%D1%8B" title="Ди-Джордж синдромы – Kazakh" lang="kk" hreflang="kk" data-title="Ди-Джордж синдромы" data-language-autonym="Қазақша" data-language-local-name="Kazakh" class="interlanguage-link-target"><span>Қазақша</span></a></li><li class="interlanguage-link interwiki-hu mw-list-item"><a href="https://hu.wikipedia.org/wiki/DiGeorge-szindr%C3%B3ma" title="DiGeorge-szindróma – Hungarian" lang="hu" hreflang="hu" data-title="DiGeorge-szindróma" data-language-autonym="Magyar" data-language-local-name="Hungarian" class="interlanguage-link-target"><span>Magyar</span></a></li><li class="interlanguage-link interwiki-mk mw-list-item"><a href="https://mk.wikipedia.org/wiki/%D0%94%D0%B8%D1%9F%D0%BE%D1%80%D1%9F%D0%BE%D0%B2_%D1%81%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC" title="Диџорџов синдром – Macedonian" lang="mk" hreflang="mk" data-title="Диџорџов синдром" data-language-autonym="Македонски" data-language-local-name="Macedonian" class="interlanguage-link-target"><span>Македонски</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Velocardiofaciaal_syndroom" title="Velocardiofaciaal syndroom – Dutch" lang="nl" hreflang="nl" data-title="Velocardiofaciaal syndroom" data-language-autonym="Nederlands" data-language-local-name="Dutch" class="interlanguage-link-target"><span>Nederlands</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/22q11.2%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4" title="22q11.2欠失症候群 – Japanese" lang="ja" hreflang="ja" data-title="22q11.2欠失症候群" data-language-autonym="日本語" data-language-local-name="Japanese" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-no mw-list-item"><a href="https://no.wikipedia.org/wiki/Velo-cardio-facialt_syndrom" title="Velo-cardio-facialt syndrom – Norwegian Bokmål" lang="nb" hreflang="nb" data-title="Velo-cardio-facialt syndrom" data-language-autonym="Norsk bokmål" data-language-local-name="Norwegian Bokmål" class="interlanguage-link-target"><span>Norsk bokmål</span></a></li><li class="interlanguage-link interwiki-or mw-list-item"><a href="https://or.wikipedia.org/wiki/%E0%AC%A1%E0%AC%BE%E0%AC%87%E0%AC%9C%E0%AC%B0%E0%AD%8D%E0%AC%9C_%E0%AC%B8%E0%AC%BF%E0%AC%A3%E0%AD%8D%E0%AC%A1%E0%AD%8D%E0%AC%B0%E0%AD%8B%E0%AC%AE" title="ଡାଇଜର୍ଜ ସିଣ୍ଡ୍ରୋମ – Odia" lang="or" hreflang="or" data-title="ଡାଇଜର୍ଜ ସିଣ୍ଡ୍ରୋମ" data-language-autonym="ଓଡ଼ିଆ" data-language-local-name="Odia" class="interlanguage-link-target"><span>ଓଡ଼ିଆ</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Zesp%C3%B3%C5%82_delecji_22q11.2" title="Zespół delecji 22q11.2 – Polish" lang="pl" hreflang="pl" data-title="Zespół delecji 22q11.2" data-language-autonym="Polski" data-language-local-name="Polish" class="interlanguage-link-target"><span>Polski</span></a></li><li class="interlanguage-link interwiki-pt mw-list-item"><a href="https://pt.wikipedia.org/wiki/S%C3%ADndrome_de_DiGeorge" title="Síndrome de DiGeorge – Portuguese" lang="pt" hreflang="pt" data-title="Síndrome de DiGeorge" data-language-autonym="Português" data-language-local-name="Portuguese" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/%D0%A1%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC_%D0%94%D0%B8_%D0%93%D0%B5%D0%BE%D1%80%D0%B3%D0%B0" title="Синдром Ди Георга – Russian" lang="ru" hreflang="ru" data-title="Синдром Ди Георга" data-language-autonym="Русский" data-language-local-name="Russian" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-simple mw-list-item"><a href="https://simple.wikipedia.org/wiki/DiGeorge_syndrome" title="DiGeorge syndrome – Simple English" lang="en-simple" hreflang="en-simple" data-title="DiGeorge syndrome" data-language-autonym="Simple English" data-language-local-name="Simple English" class="interlanguage-link-target"><span>Simple English</span></a></li><li class="interlanguage-link interwiki-sr mw-list-item"><a href="https://sr.wikipedia.org/wiki/%D0%94%D0%B8%D1%9F%D0%BE%D1%80%D1%9F%D0%BE%D0%B2_%D1%81%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC" title="Диџорџов синдром – Serbian" lang="sr" hreflang="sr" data-title="Диџорџов синдром" data-language-autonym="Српски / srpski" data-language-local-name="Serbian" class="interlanguage-link-target"><span>Српски / srpski</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Catch_22" title="Catch 22 – Finnish" lang="fi" hreflang="fi" data-title="Catch 22" data-language-autonym="Suomi" data-language-local-name="Finnish" class="interlanguage-link-target"><span>Suomi</span></a></li><li class="interlanguage-link interwiki-sv mw-list-item"><a href="https://sv.wikipedia.org/wiki/22q11-deletionsyndromet" title="22q11-deletionsyndromet – Swedish" lang="sv" hreflang="sv" data-title="22q11-deletionsyndromet" data-language-autonym="Svenska" data-language-local-name="Swedish" class="interlanguage-link-target"><span>Svenska</span></a></li><li class="interlanguage-link interwiki-ta mw-list-item"><a href="https://ta.wikipedia.org/wiki/%E0%AE%A4%E0%AF%88%E0%AE%9C%E0%AE%BE%E0%AE%B0%E0%AF%8D%E0%AE%9C%E0%AF%8D_%E0%AE%A8%E0%AF%8B%E0%AE%AF%E0%AF%8D%E0%AE%A4%E0%AF%8D%E0%AE%A4%E0%AF%8A%E0%AE%95%E0%AF%88" title="தைஜார்ஜ் நோய்த்தொகை – Tamil" lang="ta" hreflang="ta" data-title="தைஜார்ஜ் நோய்த்தொகை" data-language-autonym="தமிழ்" data-language-local-name="Tamil" class="interlanguage-link-target"><span>தமிழ்</span></a></li><li class="interlanguage-link interwiki-th mw-list-item"><a href="https://th.wikipedia.org/wiki/%E0%B8%81%E0%B8%A5%E0%B8%B8%E0%B9%88%E0%B8%A1%E0%B8%AD%E0%B8%B2%E0%B8%81%E0%B8%B2%E0%B8%A3%E0%B8%94%E0%B8%B4%E0%B8%88%E0%B8%AD%E0%B8%A3%E0%B9%8C%E0%B8%88" title="กลุ่มอาการดิจอร์จ – Thai" lang="th" hreflang="th" data-title="กลุ่มอาการดิจอร์จ" data-language-autonym="ไทย" data-language-local-name="Thai" class="interlanguage-link-target"><span>ไทย</span></a></li><li class="interlanguage-link interwiki-tr mw-list-item"><a href="https://tr.wikipedia.org/wiki/DiGeorge_sendromu" title="DiGeorge sendromu – Turkish" lang="tr" hreflang="tr" data-title="DiGeorge sendromu" data-language-autonym="Türkçe" data-language-local-name="Turkish" class="interlanguage-link-target"><span>Türkçe</span></a></li><li class="interlanguage-link interwiki-uk mw-list-item"><a href="https://uk.wikipedia.org/wiki/%D0%A1%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC_%D0%94%D1%96_%D0%93%D0%B5%D0%BE%D1%80%D0%B3%D0%B0" title="Синдром Ді Георга – Ukrainian" lang="uk" hreflang="uk" data-title="Синдром Ді Георга" data-language-autonym="Українська" data-language-local-name="Ukrainian" class="interlanguage-link-target"><span>Українська</span></a></li><li class="interlanguage-link interwiki-vi mw-list-item"><a href="https://vi.wikipedia.org/wiki/H%E1%BB%99i_ch%E1%BB%A9ng_DiGeorge" title="Hội chứng DiGeorge – Vietnamese" lang="vi" hreflang="vi" data-title="Hội chứng DiGeorge" data-language-autonym="Tiếng Việt" data-language-local-name="Vietnamese" class="interlanguage-link-target"><span>Tiếng Việt</span></a></li><li class="interlanguage-link interwiki-zh mw-list-item"><a href="https://zh.wikipedia.org/wiki/%E8%BF%AA%E5%96%AC%E6%B2%BB%E7%97%87%E5%80%99%E7%BE%A4" title="迪喬治症候群 – Chinese" lang="zh" hreflang="zh" data-title="迪喬治症候群" data-language-autonym="中文" data-language-local-name="Chinese" class="interlanguage-link-target"><span>中文</span></a></li> </ul> <div class="after-portlet after-portlet-lang"><span class="wb-langlinks-edit wb-langlinks-link"><a href="https://www.wikidata.org/wiki/Special:EntityPage/Q525642#sitelinks-wikipedia" title="Edit interlanguage links" class="wbc-editpage">Edit links</a></span></div> </div> </div> </div> </header> <div class="vector-page-toolbar"> <div class="vector-page-toolbar-container"> <div id="left-navigation"> <nav aria-label="Namespaces"> <div id="p-associated-pages" class="vector-menu vector-menu-tabs mw-portlet mw-portlet-associated-pages" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="ca-nstab-main" class="selected vector-tab-noicon mw-list-item"><a href="/wiki/DiGeorge_syndrome" title="View the content page [c]" accesskey="c"><span>Article</span></a></li><li id="ca-talk" class="vector-tab-noicon mw-list-item"><a href="/wiki/Talk:DiGeorge_syndrome" rel="discussion" title="Discuss improvements to the content page [t]" accesskey="t"><span>Talk</span></a></li> </ul> </div> </div> <div id="vector-variants-dropdown" class="vector-dropdown emptyPortlet" > <input type="checkbox" id="vector-variants-dropdown-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-variants-dropdown" class="vector-dropdown-checkbox " aria-label="Change language variant" > <label id="vector-variants-dropdown-label" for="vector-variants-dropdown-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet" aria-hidden="true" ><span class="vector-dropdown-label-text">English</span> </label> <div class="vector-dropdown-content"> <div id="p-variants" class="vector-menu mw-portlet mw-portlet-variants emptyPortlet" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> </ul> </div> </div> </div> </div> </nav> </div> <div id="right-navigation" class="vector-collapsible"> <nav aria-label="Views"> <div id="p-views" class="vector-menu vector-menu-tabs mw-portlet mw-portlet-views" > <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="ca-view" class="selected vector-tab-noicon mw-list-item"><a href="/wiki/DiGeorge_syndrome"><span>Read</span></a></li><li id="ca-edit" class="vector-tab-noicon mw-list-item"><a href="/w/index.php?title=DiGeorge_syndrome&action=edit" title="Edit this page [e]" accesskey="e"><span>Edit</span></a></li><li id="ca-history" class="vector-tab-noicon mw-list-item"><a href="/w/index.php?title=DiGeorge_syndrome&action=history" title="Past revisions of this page [h]" accesskey="h"><span>View history</span></a></li> </ul> </div> </div> </nav> <nav class="vector-page-tools-landmark" aria-label="Page tools"> <div id="vector-page-tools-dropdown" class="vector-dropdown vector-page-tools-dropdown" > <input type="checkbox" id="vector-page-tools-dropdown-checkbox" role="button" aria-haspopup="true" data-event-name="ui.dropdown-vector-page-tools-dropdown" class="vector-dropdown-checkbox " aria-label="Tools" > <label id="vector-page-tools-dropdown-label" for="vector-page-tools-dropdown-checkbox" class="vector-dropdown-label cdx-button cdx-button--fake-button cdx-button--fake-button--enabled cdx-button--weight-quiet" aria-hidden="true" ><span class="vector-dropdown-label-text">Tools</span> </label> <div class="vector-dropdown-content"> <div id="vector-page-tools-unpinned-container" class="vector-unpinned-container"> <div id="vector-page-tools" class="vector-page-tools vector-pinnable-element"> <div class="vector-pinnable-header vector-page-tools-pinnable-header vector-pinnable-header-unpinned" data-feature-name="page-tools-pinned" data-pinnable-element-id="vector-page-tools" data-pinned-container-id="vector-page-tools-pinned-container" data-unpinned-container-id="vector-page-tools-unpinned-container" > <div class="vector-pinnable-header-label">Tools</div> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-pin-button" data-event-name="pinnable-header.vector-page-tools.pin">move to sidebar</button> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-unpin-button" data-event-name="pinnable-header.vector-page-tools.unpin">hide</button> </div> <div id="p-cactions" class="vector-menu mw-portlet mw-portlet-cactions emptyPortlet vector-has-collapsible-items" title="More options" > <div class="vector-menu-heading"> Actions </div> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="ca-more-view" class="selected vector-more-collapsible-item mw-list-item"><a href="/wiki/DiGeorge_syndrome"><span>Read</span></a></li><li id="ca-more-edit" class="vector-more-collapsible-item mw-list-item"><a href="/w/index.php?title=DiGeorge_syndrome&action=edit" title="Edit this page [e]" accesskey="e"><span>Edit</span></a></li><li id="ca-more-history" class="vector-more-collapsible-item mw-list-item"><a href="/w/index.php?title=DiGeorge_syndrome&action=history"><span>View history</span></a></li> </ul> </div> </div> <div id="p-tb" class="vector-menu mw-portlet mw-portlet-tb" > <div class="vector-menu-heading"> General </div> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="t-whatlinkshere" class="mw-list-item"><a href="/wiki/Special:WhatLinksHere/DiGeorge_syndrome" title="List of all English Wikipedia pages containing links to this page [j]" accesskey="j"><span>What links here</span></a></li><li id="t-recentchangeslinked" class="mw-list-item"><a href="/wiki/Special:RecentChangesLinked/DiGeorge_syndrome" rel="nofollow" title="Recent changes in pages linked from this page [k]" accesskey="k"><span>Related changes</span></a></li><li id="t-upload" class="mw-list-item"><a href="/wiki/Wikipedia:File_Upload_Wizard" title="Upload files [u]" accesskey="u"><span>Upload file</span></a></li><li id="t-specialpages" class="mw-list-item"><a href="/wiki/Special:SpecialPages" title="A list of all special pages [q]" accesskey="q"><span>Special pages</span></a></li><li id="t-permalink" class="mw-list-item"><a href="/w/index.php?title=DiGeorge_syndrome&oldid=1233227644" title="Permanent link to this revision of this page"><span>Permanent link</span></a></li><li id="t-info" class="mw-list-item"><a href="/w/index.php?title=DiGeorge_syndrome&action=info" title="More information about this page"><span>Page information</span></a></li><li id="t-cite" class="mw-list-item"><a href="/w/index.php?title=Special:CiteThisPage&page=DiGeorge_syndrome&id=1233227644&wpFormIdentifier=titleform" title="Information on how to cite this page"><span>Cite this page</span></a></li><li id="t-urlshortener" class="mw-list-item"><a href="/w/index.php?title=Special:UrlShortener&url=https%3A%2F%2Fen.wikipedia.org%2Fwiki%2FDiGeorge_syndrome"><span>Get shortened URL</span></a></li><li id="t-urlshortener-qrcode" class="mw-list-item"><a href="/w/index.php?title=Special:QrCode&url=https%3A%2F%2Fen.wikipedia.org%2Fwiki%2FDiGeorge_syndrome"><span>Download QR code</span></a></li> </ul> </div> </div> <div id="p-coll-print_export" class="vector-menu mw-portlet mw-portlet-coll-print_export" > <div class="vector-menu-heading"> Print/export </div> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li id="coll-download-as-rl" class="mw-list-item"><a href="/w/index.php?title=Special:DownloadAsPdf&page=DiGeorge_syndrome&action=show-download-screen" title="Download this page as a PDF file"><span>Download as PDF</span></a></li><li id="t-print" class="mw-list-item"><a href="/w/index.php?title=DiGeorge_syndrome&printable=yes" title="Printable version of this page [p]" accesskey="p"><span>Printable version</span></a></li> </ul> </div> </div> <div id="p-wikibase-otherprojects" class="vector-menu mw-portlet mw-portlet-wikibase-otherprojects" > <div class="vector-menu-heading"> In other projects </div> <div class="vector-menu-content"> <ul class="vector-menu-content-list"> <li class="wb-otherproject-link wb-otherproject-commons mw-list-item"><a href="https://commons.wikimedia.org/wiki/Category:DiGeorge_syndrome" hreflang="en"><span>Wikimedia Commons</span></a></li><li id="t-wikibase" class="wb-otherproject-link wb-otherproject-wikibase-dataitem mw-list-item"><a href="https://www.wikidata.org/wiki/Special:EntityPage/Q525642" title="Structured data on this page hosted by Wikidata [g]" accesskey="g"><span>Wikidata item</span></a></li> </ul> </div> </div> </div> </div> </div> </div> </nav> </div> </div> </div> <div class="vector-column-end"> <div class="vector-sticky-pinned-container"> <nav class="vector-page-tools-landmark" aria-label="Page tools"> <div id="vector-page-tools-pinned-container" class="vector-pinned-container"> </div> </nav> <nav class="vector-appearance-landmark" aria-label="Appearance"> <div id="vector-appearance-pinned-container" class="vector-pinned-container"> <div id="vector-appearance" class="vector-appearance vector-pinnable-element"> <div class="vector-pinnable-header vector-appearance-pinnable-header vector-pinnable-header-pinned" data-feature-name="appearance-pinned" data-pinnable-element-id="vector-appearance" data-pinned-container-id="vector-appearance-pinned-container" data-unpinned-container-id="vector-appearance-unpinned-container" > <div class="vector-pinnable-header-label">Appearance</div> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-pin-button" data-event-name="pinnable-header.vector-appearance.pin">move to sidebar</button> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-unpin-button" data-event-name="pinnable-header.vector-appearance.unpin">hide</button> </div> </div> </div> </nav> </div> </div> <div id="bodyContent" class="vector-body" aria-labelledby="firstHeading" data-mw-ve-target-container> <div class="vector-body-before-content"> <div class="mw-indicators"> </div> <div id="siteSub" class="noprint">From Wikipedia, the free encyclopedia</div> </div> <div id="contentSub"><div id="mw-content-subtitle"></div></div> <div id="mw-content-text" class="mw-body-content"><div class="mw-content-ltr mw-parser-output" lang="en" dir="ltr"><div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Medical condition caused by chromosomal abnormality</div> <div class="shortdescription nomobile noexcerpt noprint searchaux" style="display:none">Medical condition</div><style data-mw-deduplicate="TemplateStyles:r1257001546">.mw-parser-output .infobox-subbox{padding:0;border:none;margin:-3px;width:auto;min-width:100%;font-size:100%;clear:none;float:none;background-color:transparent}.mw-parser-output .infobox-3cols-child{margin:auto}.mw-parser-output .infobox .navbar{font-size:100%}@media screen{html.skin-theme-clientpref-night .mw-parser-output .infobox-full-data:not(.notheme)>div:not(.notheme)[style]{background:#1f1f23!important;color:#f8f9fa}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .infobox-full-data:not(.notheme) div:not(.notheme){background:#1f1f23!important;color:#f8f9fa}}@media(min-width:640px){body.skin--responsive .mw-parser-output .infobox-table{display:table!important}body.skin--responsive .mw-parser-output .infobox-table>caption{display:table-caption!important}body.skin--responsive .mw-parser-output .infobox-table>tbody{display:table-row-group}body.skin--responsive .mw-parser-output .infobox-table tr{display:table-row!important}body.skin--responsive .mw-parser-output .infobox-table th,body.skin--responsive .mw-parser-output .infobox-table td{padding-left:inherit;padding-right:inherit}}</style><table class="infobox ib-medical-condition"><tbody><tr><th colspan="2" class="infobox-above" style="background:#ccc">DiGeorge syndrome</th></tr><tr><th scope="row" class="infobox-label">Other names</th><td class="infobox-data">DiGeorge anomaly,<sup id="cite_ref-Bolognia_1-0" class="reference"><a href="#cite_note-Bolognia-1"><span class="cite-bracket">[</span>1<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Andrews_2-0" class="reference"><a href="#cite_note-Andrews-2"><span class="cite-bracket">[</span>2<span class="cite-bracket">]</span></a></sup> velocardiofacial syndrome (VCFS),<sup id="cite_ref-GARD2017_3-0" class="reference"><a href="#cite_note-GARD2017-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> Shprintzen syndrome,<sup id="cite_ref-pmid272242_4-0" class="reference"><a href="#cite_note-pmid272242-4"><span class="cite-bracket">[</span>4<span class="cite-bracket">]</span></a></sup> conotruncal anomaly face syndrome (CTAF),<sup id="cite_ref-NORD2017_5-0" class="reference"><a href="#cite_note-NORD2017-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> Takao syndrome,<sup id="cite_ref-pmid8230157_6-0" class="reference"><a href="#cite_note-pmid8230157-6"><span class="cite-bracket">[</span>6<span class="cite-bracket">]</span></a></sup> Sedlackova syndrome,<sup id="cite_ref-GHR2013_7-0" class="reference"><a href="#cite_note-GHR2013-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> Cayler cardiofacial syndrome,<sup id="cite_ref-GHR2013_7-1" class="reference"><a href="#cite_note-GHR2013-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> CATCH22,<sup id="cite_ref-GHR2013_7-2" class="reference"><a href="#cite_note-GHR2013-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> 22q11.2 deletion syndrome<sup id="cite_ref-GHR2013_7-3" class="reference"><a href="#cite_note-GHR2013-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup></td></tr><tr style="background-color: #f8f9fa;"><td colspan="2" class="infobox-full-data"><span class="mw-default-size" typeof="mw:File/Frameless"><a href="/wiki/File:DiGeorge_syndrome1.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/c/cb/DiGeorge_syndrome1.jpg/220px-DiGeorge_syndrome1.jpg" decoding="async" width="220" height="223" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/c/cb/DiGeorge_syndrome1.jpg/330px-DiGeorge_syndrome1.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/c/cb/DiGeorge_syndrome1.jpg/440px-DiGeorge_syndrome1.jpg 2x" data-file-width="518" data-file-height="526" /></a></span></td></tr><tr><td colspan="2" class="infobox-full-data">A child with characteristic facial features of DiGeorge syndrome</td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_specialty" title="Medical specialty">Specialty</a></th><td class="infobox-data"><a href="/wiki/Medical_genetics" title="Medical genetics">Medical genetics</a></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Signs_and_symptoms" title="Signs and symptoms">Symptoms</a></th><td class="infobox-data">Varied; commonly <a href="/wiki/Congenital_heart_problems" class="mw-redirect" title="Congenital heart problems">congenital heart problems</a>, specific facial features, <a href="/wiki/Cleft_palate" class="mw-redirect" title="Cleft palate">cleft palate</a><sup id="cite_ref-GHR2013_7-4" class="reference"><a href="#cite_note-GHR2013-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Complication_(medicine)" title="Complication (medicine)">Complications</a></th><td class="infobox-data"><a href="/wiki/Kidney_problems" class="mw-redirect" title="Kidney problems">Kidney problems</a>, <a href="/wiki/Hearing_loss" title="Hearing loss">hearing loss</a>, <a href="/wiki/Autoimmune_disorder" class="mw-redirect" title="Autoimmune disorder">autoimmune disorders</a><sup id="cite_ref-GHR2013_7-5" class="reference"><a href="#cite_note-GHR2013-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label">Causes</th><td class="infobox-data"><a href="/wiki/Genetics" title="Genetics">Genetic</a> (typically new mutation)<sup id="cite_ref-GHR2013_7-6" class="reference"><a href="#cite_note-GHR2013-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Medical_diagnosis" title="Medical diagnosis">Diagnostic method</a></th><td class="infobox-data">Based on symptoms and <a href="/wiki/Genetic_testing" title="Genetic testing">genetic testing</a><sup id="cite_ref-NORD2017_5-1" class="reference"><a href="#cite_note-NORD2017-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Differential_diagnosis" title="Differential diagnosis">Differential diagnosis</a></th><td class="infobox-data"><a href="/wiki/Smith%E2%80%93Lemli%E2%80%93Opitz_syndrome" title="Smith–Lemli–Opitz syndrome">Smith–Lemli–Opitz syndrome</a>, <a href="/wiki/Alagille_syndrome" title="Alagille syndrome">Alagille syndrome</a>, <a href="/wiki/VACTERL" class="mw-redirect" title="VACTERL">VACTERL</a>, <a href="/wiki/Oculo-auriculo-vertebral_spectrum" class="mw-redirect" title="Oculo-auriculo-vertebral spectrum">Oculo-auriculo-vertebral spectrum</a><sup id="cite_ref-NORD2017_5-2" class="reference"><a href="#cite_note-NORD2017-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label">Treatment</th><td class="infobox-data"><a href="/wiki/Multidisciplinary" class="mw-redirect" title="Multidisciplinary">Involves many healthcare specialties</a><sup id="cite_ref-NORD2017_5-3" class="reference"><a href="#cite_note-NORD2017-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label"><a href="/wiki/Prognosis" title="Prognosis">Prognosis</a></th><td class="infobox-data">Depends on the specific symptoms<sup id="cite_ref-GARD2017_3-1" class="reference"><a href="#cite_note-GARD2017-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup></td></tr><tr><th scope="row" class="infobox-label">Frequency</th><td class="infobox-data">1 in 4,000<sup id="cite_ref-GHR2013_7-7" class="reference"><a href="#cite_note-GHR2013-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup></td></tr></tbody></table> <p><b>DiGeorge syndrome</b>, also known as <b>22q11.2 deletion syndrome</b>, is a syndrome caused by a microdeletion on the long arm of <a href="/wiki/Chromosome_22" title="Chromosome 22">chromosome 22</a>.<sup id="cite_ref-GHR2013_7-8" class="reference"><a href="#cite_note-GHR2013-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> While the symptoms can vary, they often include <a href="/wiki/Congenital_heart_problems" class="mw-redirect" title="Congenital heart problems">congenital heart problems</a>, specific facial features, frequent infections, <a href="/wiki/Developmental_disability" title="Developmental disability">developmental disability</a>, <a href="/wiki/Intellectual_disability" title="Intellectual disability">intellectual disability</a> and <a href="/wiki/Cleft_palate" class="mw-redirect" title="Cleft palate">cleft palate</a>.<sup id="cite_ref-GHR2013_7-9" class="reference"><a href="#cite_note-GHR2013-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> Associated conditions include <a href="/wiki/Kidney_problems" class="mw-redirect" title="Kidney problems">kidney problems</a>, <a href="/wiki/Schizophrenia" title="Schizophrenia">schizophrenia</a>, <a href="/wiki/Hearing_loss" title="Hearing loss">hearing loss</a> and <a href="/wiki/Autoimmune_disorder" class="mw-redirect" title="Autoimmune disorder">autoimmune disorders</a> such as <a href="/wiki/Rheumatoid_arthritis" title="Rheumatoid arthritis">rheumatoid arthritis</a> or <a href="/wiki/Graves%27_disease" title="Graves' disease">Graves' disease</a>.<sup id="cite_ref-GHR2013_7-10" class="reference"><a href="#cite_note-GHR2013-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-8" class="reference"><a href="#cite_note-8"><span class="cite-bracket">[</span>8<span class="cite-bracket">]</span></a></sup> </p><p>DiGeorge syndrome is typically due to the deletion of 30 to 40 <a href="/wiki/Genes" class="mw-redirect" title="Genes">genes</a> in the middle of <a href="/wiki/Chromosome_22" title="Chromosome 22">chromosome 22</a> at a <a href="/wiki/Locus_(genetics)" title="Locus (genetics)">location</a> known as <i>22q11.2</i>.<sup id="cite_ref-GARD2017_3-2" class="reference"><a href="#cite_note-GARD2017-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> About 90% of cases occur due to a new <a href="/wiki/Mutation" title="Mutation">mutation</a> during early development, while 10% are <a href="/wiki/Heredity" title="Heredity">inherited</a>.<sup id="cite_ref-GHR2013_7-11" class="reference"><a href="#cite_note-GHR2013-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> It is <a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">autosomal dominant</a>, meaning that only one affected chromosome is needed for the condition to occur.<sup id="cite_ref-GHR2013_7-12" class="reference"><a href="#cite_note-GHR2013-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> Diagnosis is suspected based on the symptoms and confirmed by <a href="/wiki/Genetic_testing" title="Genetic testing">genetic testing</a>.<sup id="cite_ref-NORD2017_5-4" class="reference"><a href="#cite_note-NORD2017-5"><span class="cite-bracket">[</span>5<span class="cite-bracket">]</span></a></sup> </p><p>Although there is no cure, treatment can improve symptoms.<sup id="cite_ref-GARD2017_3-3" class="reference"><a href="#cite_note-GARD2017-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> This often includes a <a href="/wiki/Multidisciplinary" class="mw-redirect" title="Multidisciplinary">multidisciplinary</a> approach with efforts to improve the function of the potentially many organ systems involved.<sup id="cite_ref-Sul2007_9-0" class="reference"><a href="#cite_note-Sul2007-9"><span class="cite-bracket">[</span>9<span class="cite-bracket">]</span></a></sup> Long-term outcomes depend on the symptoms present and the severity of the heart and immune system problems.<sup id="cite_ref-GARD2017_3-4" class="reference"><a href="#cite_note-GARD2017-3"><span class="cite-bracket">[</span>3<span class="cite-bracket">]</span></a></sup> With treatment, life expectancy may be normal.<sup id="cite_ref-10" class="reference"><a href="#cite_note-10"><span class="cite-bracket">[</span>10<span class="cite-bracket">]</span></a></sup> </p><p>DiGeorge syndrome occurs in about 1 in 4,000 people.<sup id="cite_ref-GHR2013_7-13" class="reference"><a href="#cite_note-GHR2013-7"><span class="cite-bracket">[</span>7<span class="cite-bracket">]</span></a></sup> The syndrome was first described in 1968 by American physician <a href="/wiki/Angelo_DiGeorge" title="Angelo DiGeorge">Angelo DiGeorge</a>.<sup id="cite_ref-11" class="reference"><a href="#cite_note-11"><span class="cite-bracket">[</span>11<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Ang2006_12-0" class="reference"><a href="#cite_note-Ang2006-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> In late 1981, the underlying genetics were determined.<sup id="cite_ref-Ang2006_12-1" class="reference"><a href="#cite_note-Ang2006-12"><span class="cite-bracket">[</span>12<span class="cite-bracket">]</span></a></sup> </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Signs_and_symptoms">Signs and symptoms</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=DiGeorge_syndrome&action=edit&section=1" title="Edit section: Signs and symptoms"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. Characteristic signs and symptoms may include birth defects such as congenital heart disease, defects in the palate, most commonly related to neuromuscular problems with closure (<a href="/wiki/Velopharyngeal_insufficiency" title="Velopharyngeal insufficiency">velopharyngeal insufficiency</a>), <a href="/wiki/Learning_disability" title="Learning disability">learning disabilities</a>, mild differences in facial features, and recurrent <a href="/wiki/Infection" title="Infection">infections</a>. Infections are common in children due to problems with the <a href="/wiki/Immune_system" title="Immune system">immune system</a>'s <a href="/wiki/T_cell" title="T cell">T cell</a>-<a href="/wiki/Cell-mediated_immunity" title="Cell-mediated immunity">mediated response</a> that in some patients is due to an absent or <a href="/wiki/Hypoplastic" class="mw-redirect" title="Hypoplastic">hypoplastic</a> <a href="/wiki/Thymus" title="Thymus">thymus</a>. DiGeorge syndrome may be first spotted when an affected newborn has heart defects or convulsions from <a href="/wiki/Hypocalcemia" title="Hypocalcemia">hypocalcemia</a> due to malfunctioning <a href="/wiki/Parathyroid_glands" class="mw-redirect" title="Parathyroid glands">parathyroid glands</a> and low levels of parathyroid hormone (<a href="/wiki/Parathormone" class="mw-redirect" title="Parathormone">parathormone</a>).<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (May 2022)">citation needed</span></a></i>]</sup> </p><p>Affected individuals may also have other kinds of birth defects including kidney abnormalities and significant feeding difficulties as babies. Gastrointestinal issues are also very common in this patient population. Digestive motility issues may result in constipation.<sup id="cite_ref-pmid21200182_13-0" class="reference"><a href="#cite_note-pmid21200182-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> Disorders such as <a href="/wiki/Hypothyroidism" title="Hypothyroidism">hypothyroidism</a> and <a href="/wiki/Hypoparathyroidism" title="Hypoparathyroidism">hypoparathyroidism</a> or <a href="/wiki/Thrombocytopenia" title="Thrombocytopenia">thrombocytopenia</a> (low platelet levels), and <a href="/wiki/Psychiatric" class="mw-redirect" title="Psychiatric">psychiatric</a> illnesses are common late-occurring features.<sup id="cite_ref-Bebbane_2006_psychosis_14-0" class="reference"><a href="#cite_note-Bebbane_2006_psychosis-14"><span class="cite-bracket">[</span>14<span class="cite-bracket">]</span></a></sup> </p><p>Microdeletions in chromosomal region 22q11.2 are associated with a 20 to 30-fold increased risk of <a href="/wiki/Schizophrenia" title="Schizophrenia">schizophrenia</a>.<sup id="cite_ref-Horowitz_2005_SCHZ_15-0" class="reference"><a href="#cite_note-Horowitz_2005_SCHZ-15"><span class="cite-bracket">[</span>15<span class="cite-bracket">]</span></a></sup> Studies provide various rates of 22q11.2DS in schizophrenia, ranging from 0.5 to 2.0% and averaging about 1.0%, compared with the overall estimated 0.025% risk of the 22q11.2DS in the general population.<sup id="cite_ref-Horowitz_2005_survey_SCHZ_16-0" class="reference"><a href="#cite_note-Horowitz_2005_survey_SCHZ-16"><span class="cite-bracket">[</span>16<span class="cite-bracket">]</span></a></sup> </p><p>Salient features can be summarized using the mnemonic <i>CATCH-22</i> to describe 22q11.2DS, with the 22 signifying the chromosomal abnormality is found on the 22nd chromosome, as below:<sup id="cite_ref-Burn_1999_JMedGen_17-0" class="reference"><a href="#cite_note-Burn_1999_JMedGen-17"><span class="cite-bracket">[</span>17<span class="cite-bracket">]</span></a></sup> </p> <ul><li>Cardiac abnormality (commonly <a href="/wiki/Interrupted_aortic_arch" title="Interrupted aortic arch">interrupted aortic arch</a>, <a href="/wiki/Truncus_arteriosus" title="Truncus arteriosus">truncus arteriosus</a> and <a href="/wiki/Tetralogy_of_Fallot" title="Tetralogy of Fallot">tetralogy of Fallot</a>)</li> <li>Abnormal <a href="/wiki/Facies_(medical)" title="Facies (medical)">facies</a> (Hypertelorism, short down slanting palpebral fissures, tubular nose with anteverted nostrils, short philtrum, carp mouth, mandibular hypoplasia, cleft palate)</li> <li>Thymic <a href="/wiki/Aplasia" title="Aplasia">aplasia</a> or hypoplasia</li> <li>Cleft palate</li> <li>Hypocalcemia/hypoparathyroidism early in life</li></ul> <p>Individuals can have many possible features, ranging in number of associated features and from the mild to the very serious. Symptoms shown to be common include: </p> <style data-mw-deduplicate="TemplateStyles:r1184024115">.mw-parser-output .div-col{margin-top:0.3em;column-width:30em}.mw-parser-output .div-col-small{font-size:90%}.mw-parser-output .div-col-rules{column-rule:1px solid #aaa}.mw-parser-output .div-col dl,.mw-parser-output .div-col ol,.mw-parser-output .div-col ul{margin-top:0}.mw-parser-output .div-col li,.mw-parser-output .div-col dd{page-break-inside:avoid;break-inside:avoid-column}</style><div class="div-col" style="column-width: 30em;"> <ul><li><a href="/wiki/Congenital_heart_disease" class="mw-redirect" title="Congenital heart disease">Congenital heart disease</a> (40% of individuals), particularly <a href="/wiki/Bulbus_cordis" title="Bulbus cordis">conotruncal</a> malformations (<a href="/wiki/Interrupted_aortic_arch" title="Interrupted aortic arch">interrupted aortic arch</a> (50%), <a href="/wiki/Persistent_truncus_arteriosus" title="Persistent truncus arteriosus">persistent truncus arteriosus</a> (34%), tetralogy of Fallot, and <a href="/wiki/Ventricular_septal_defect" title="Ventricular septal defect">ventricular septal defect</a>)</li> <li><a href="/wiki/Cyanosis" title="Cyanosis">Cyanosis</a> (bluish skin due to poor circulation of oxygen-rich blood)</li> <li><a href="/wiki/Palatal" class="mw-redirect" title="Palatal">Palatal</a> abnormalities (50%), particularly <a href="/wiki/Velopharyngeal_incompetence" class="mw-redirect" title="Velopharyngeal incompetence">velopharyngeal incompetence</a>, submucosal <a href="/wiki/Cleft_palate" class="mw-redirect" title="Cleft palate">cleft palate</a>, and <a href="/wiki/Cleft_palate" class="mw-redirect" title="Cleft palate">cleft palate</a>; characteristic facial features (present in the majority of <a href="/wiki/Caucasian_race" title="Caucasian race">Caucasian</a> individuals) including <a href="/wiki/Hypertelorism" title="Hypertelorism">hypertelorism</a></li> <li><a href="/wiki/Learning_disabilities" class="mw-redirect" title="Learning disabilities">Learning difficulties</a> (90%), including <a href="/wiki/Cognitive_deficit" class="mw-redirect" title="Cognitive deficit">cognitive deficits</a>, <a href="/wiki/Attention_deficit_hyperactivity_disorder" title="Attention deficit hyperactivity disorder">attention deficit disorders</a><sup id="cite_ref-pmid11715041_18-0" class="reference"><a href="#cite_note-pmid11715041-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup></li> <li><a href="/wiki/Hypocalcemia" title="Hypocalcemia">Hypocalcemia</a> (50%)(due to hypoparathyroidism)</li> <li>Significant <a href="/wiki/Feeding_tube" title="Feeding tube">feeding</a> problems (30%)</li> <li><a href="/wiki/Renal" class="mw-redirect" title="Renal">Renal</a> anomalies (37%)</li> <li><a href="/wiki/Hearing_impairment" class="mw-redirect" title="Hearing impairment">Hearing loss</a> (both <a href="/wiki/Conductive" class="mw-redirect" title="Conductive">conductive</a> and <a href="/wiki/Sensorineural" class="mw-redirect" title="Sensorineural">sensorineural</a>) (<a href="/wiki/Hearing_loss_with_craniofacial_syndromes" title="Hearing loss with craniofacial syndromes">hearing loss with craniofacial syndromes</a>)</li> <li>Laryngotracheoesophageal anomalies</li> <li><a href="/wiki/Growth_hormone" title="Growth hormone">Growth hormone</a> deficiency</li> <li><a href="/wiki/Autoimmune_disorders" class="mw-redirect" title="Autoimmune disorders">Autoimmune disorders</a></li> <li><a href="/wiki/Immune_disorders" class="mw-redirect" title="Immune disorders">Immune disorders</a> due to reduced <a href="/wiki/T_cell" title="T cell">T cell</a> numbers</li> <li><a href="/wiki/Schizophrenia" title="Schizophrenia">Schizophrenia</a> develops in 25-30% by adulthood</li> <li><a href="/wiki/Seizures" class="mw-redirect" title="Seizures">Seizures</a> (with or without <a href="/wiki/Hypocalcemia" title="Hypocalcemia">hypocalcemia</a>)</li> <li><a href="/wiki/Skeletal" class="mw-redirect" title="Skeletal">Skeletal</a> abnormalities</li> <li><a href="/wiki/Psychiatric_disorders" class="mw-redirect" title="Psychiatric disorders">Psychiatric disorders</a><sup id="cite_ref-pmid11715041_18-1" class="reference"><a href="#cite_note-pmid11715041-18"><span class="cite-bracket">[</span>18<span class="cite-bracket">]</span></a></sup></li></ul></div> <p>This syndrome is characterized by <a href="/wiki/Incomplete_penetrance" class="mw-redirect" title="Incomplete penetrance">incomplete penetrance</a>. Therefore, there is a marked variability in clinical expression between the different patients. This often makes early diagnosis difficult.<sup id="cite_ref-pmid11180220_19-0" class="reference"><a href="#cite_note-pmid11180220-19"><span class="cite-bracket">[</span>19<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Cognitive_impairments">Cognitive impairments</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=DiGeorge_syndrome&action=edit&section=2" title="Edit section: Cognitive impairments"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Children with DiGeorge syndrome have a specific profile in neuropsychological tests. They usually have a below-borderline normal IQ, with most individuals having higher scores in the verbal than the nonverbal domains. Some are able to attend mainstream schools, while others are home-schooled or in special classes. The severity of hypocalcemia early in childhood is associated with autism-like behavioral difficulties.<sup id="cite_ref-pmid25267002_20-0" class="reference"><a href="#cite_note-pmid25267002-20"><span class="cite-bracket">[</span>20<span class="cite-bracket">]</span></a></sup> </p><p>Adults with DiGeorge syndrome are a specifically high-risk group for developing schizophrenia. About 30% have at least one episode of <a href="/wiki/Psychosis" title="Psychosis">psychosis</a> and about a quarter develop <a href="/wiki/Schizophrenia" title="Schizophrenia">schizophrenia</a> by adulthood.<sup id="cite_ref-21" class="reference"><a href="#cite_note-21"><span class="cite-bracket">[</span>21<span class="cite-bracket">]</span></a></sup> </p><p>Individuals with DiGeorge syndrome also have a higher risk of developing early onset <a href="/wiki/Parkinson%27s_disease" title="Parkinson's disease">Parkinson's disease</a> (PD). Diagnosis of Parkinson's can be delayed by up to 10 years due to the use of <a href="/wiki/Antipsychotics" class="mw-redirect" title="Antipsychotics">antipsychotics</a>, which can cause parkinsonian symptoms.<sup id="cite_ref-Butcher_2013_22-0" class="reference"><a href="#cite_note-Butcher_2013-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid27017469_23-0" class="reference"><a href="#cite_note-pmid27017469-23"><span class="cite-bracket">[</span>23<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Speech_and_language">Speech and language</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=DiGeorge_syndrome&action=edit&section=3" title="Edit section: Speech and language"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Current research demonstrates a unique profile of speech and language impairments is associated with 22q11.2DS. Children often perform lower on speech and language evaluations in comparison to their nonverbal IQ scores.<sup class="noprint Inline-Template" style="white-space:nowrap;">[<i><a href="/w/index.php?title=Cognitive_impairments_section&action=edit&redlink=1" class="new" title="Cognitive impairments section (page does not exist)"><span title="This text contradicts material at the article 'Cognitive impairments section'. (October 2010)">contradictory</span></a></i>]</sup> Common problems include hypernasality, language delays, and speech sound errors.<sup id="cite_ref-Dantonio_24-0" class="reference"><a href="#cite_note-Dantonio-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Scherer1999_25-0" class="reference"><a href="#cite_note-Scherer1999-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Scherer2001_26-0" class="reference"><a href="#cite_note-Scherer2001-26"><span class="cite-bracket">[</span>26<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Hypernasality" class="mw-redirect" title="Hypernasality">Hypernasality</a> occurs when air escapes through the nose during the production of oral speech sounds, resulting in reduced <a href="/wiki/Intelligibility_(communication)" title="Intelligibility (communication)">intelligibility</a>. This is a common characteristic in the speech and language profile because 69% of children have <a href="/wiki/Palatal" class="mw-redirect" title="Palatal">palatal</a> abnormalities. If the structure of the soft palate <a href="/wiki/Soft_palate" title="Soft palate">velum</a> is such that it does not stop the flow of air from going up to the <a href="/wiki/Nasal_cavity" title="Nasal cavity">nasal cavity</a>, it will cause <a href="/wiki/Hypernasal_speech" title="Hypernasal speech">hypernasal speech</a>. This phenomenon is referred as <a href="/wiki/Velopharyngeal_inadequacy" title="Velopharyngeal inadequacy">velopharyngeal inadequacy</a> (VPI). Hearing loss can also contribute to increased hypernasality because children with hearing impairments can have difficulty self monitoring their oral speech output. The treatment options available for VPI include prosthesis and surgery.<sup id="cite_ref-Dantonio_24-1" class="reference"><a href="#cite_note-Dantonio-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Scherer1999_25-1" class="reference"><a href="#cite_note-Scherer1999-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Eliez_27-0" class="reference"><a href="#cite_note-Eliez-27"><span class="cite-bracket">[</span>27<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Robin_28-0" class="reference"><a href="#cite_note-Robin-28"><span class="cite-bracket">[</span>28<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Solot_29-0" class="reference"><a href="#cite_note-Solot-29"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup> </p><p>Difficulties acquiring vocabulary and formulating spoken language (<a href="/wiki/Expressive_language" class="mw-redirect" title="Expressive language">expressive language</a> deficits) at the onset of language development are also part of the speech and language profile associated with the 22q11.2 deletion. <a href="/wiki/Vocabulary_acquisition" class="mw-redirect" title="Vocabulary acquisition">Vocabulary acquisition</a> is often severely delayed for preschool-age children. In some recent studies, children had a severely limited vocabulary or were still not verbal at 2–3 years of age. School-age children do make progress with expressive language as they mature, but many continue to have delays and demonstrate difficulty when presented with language tasks such as verbally recalling narratives and producing longer and more complex sentences. <a href="/wiki/Receptive_language" class="mw-redirect" title="Receptive language">Receptive language</a>, which is the ability to comprehend, retain, or process spoken language, can also be impaired, although not usually with the same severity as expressive language impairments.<sup id="cite_ref-Scherer1999_25-2" class="reference"><a href="#cite_note-Scherer1999-25"><span class="cite-bracket">[</span>25<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Robin_28-1" class="reference"><a href="#cite_note-Robin-28"><span class="cite-bracket">[</span>28<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Solot_29-1" class="reference"><a href="#cite_note-Solot-29"><span class="cite-bracket">[</span>29<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Persson_30-0" class="reference"><a href="#cite_note-Persson-30"><span class="cite-bracket">[</span>30<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Manner_of_articulation" title="Manner of articulation">Articulation</a> errors are commonly present in children with DiGeorge syndrome. These errors include a limited phonemic (speech sound) inventory and the use of compensatory articulation strategies resulting in reduced intelligibility. The <a href="/wiki/Phonemic" class="mw-redirect" title="Phonemic">phonemic</a> inventory typically produced consists of sounds made in the front or back of the oral cavity such as: <span class="IPA nowrap" lang="und-Latn-fonipa" title="Representation in the International Phonetic Alphabet (IPA)">/p/</span>, <span class="IPA nowrap" lang="und-Latn-fonipa" title="Representation in the International Phonetic Alphabet (IPA)">/w/</span>, <span class="IPA nowrap" lang="und-Latn-fonipa" title="Representation in the International Phonetic Alphabet (IPA)">/m/</span>, <span class="IPA nowrap" lang="und-Latn-fonipa" title="Representation in the International Phonetic Alphabet (IPA)">/n/</span>, and glottal stops. Sound made in the middle of the mouth are completely absent. Compensatory articulation errors made by this population of children include: <a href="/wiki/Glottal_stop" title="Glottal stop">glottal stops</a>, nasal substitutions, pharyngeal fricatives, linguapalatal sibilants, reduced pressure on consonant sounds, or a combination of these symptoms. Of these errors, glottal stops have the highest frequency of occurrence. It is reasoned that a limited <a href="/wiki/Phonemic_inventory" class="mw-redirect" title="Phonemic inventory">phonemic inventory</a> and the use of compensatory articulation strategies is present due to the structural abnormalities of the palate. The speech impairments exhibited by this population are more severe during the younger ages and show a trend of gradual improvement as the child matures.<sup id="cite_ref-Dantonio_24-2" class="reference"><a href="#cite_note-Dantonio-24"><span class="cite-bracket">[</span>24<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Robin_28-2" class="reference"><a href="#cite_note-Robin-28"><span class="cite-bracket">[</span>28<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Genetics">Genetics</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=DiGeorge_syndrome&action=edit&section=4" title="Edit section: Genetics"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size mw-halign-right" typeof="mw:File/Thumb"><a href="/wiki/File:Autosomal_dominant_-_en.svg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Autosomal_dominant_-_en.svg/220px-Autosomal_dominant_-_en.svg.png" decoding="async" width="220" height="376" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Autosomal_dominant_-_en.svg/330px-Autosomal_dominant_-_en.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/4/4e/Autosomal_dominant_-_en.svg/440px-Autosomal_dominant_-_en.svg.png 2x" data-file-width="738" data-file-height="1260" /></a><figcaption>DiGeorge syndrome is inherited in an <a href="/wiki/Autosomal_dominant" class="mw-redirect" title="Autosomal dominant">autosomal dominant</a> pattern.</figcaption></figure> <p>DiGeorge syndrome is caused by a <a href="/wiki/Heterozygous" class="mw-redirect" title="Heterozygous">heterozygous</a> deletion of part of the long arm (q) of chromosome 22, region 1, band 1, sub-band 2 (22q11.2). Approximately 80-90% of patients have a deletion of 3 <a href="/wiki/Base_pair#Length_measurements" title="Base pair">Mb</a> and 8% have a deletion of 1.5Mb.<sup id="cite_ref-OMIM_31-0" class="reference"><a href="#cite_note-OMIM-31"><span class="cite-bracket">[</span>31<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Packham_2003_32-0" class="reference"><a href="#cite_note-Packham_2003-32"><span class="cite-bracket">[</span>32<span class="cite-bracket">]</span></a></sup> The number of genes affected by the deletion has been cited as approximately 30 to 50.<sup id="cite_ref-Tang_2015_33-0" class="reference"><a href="#cite_note-Tang_2015-33"><span class="cite-bracket">[</span>33<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid18775783_34-0" class="reference"><a href="#cite_note-pmid18775783-34"><span class="cite-bracket">[</span>34<span class="cite-bracket">]</span></a></sup> Very rarely, patients with somewhat similar clinical features may have deletions on the short arm of chromosome 10.<sup id="cite_ref-Bartsch_2003_35-0" class="reference"><a href="#cite_note-Bartsch_2003-35"><span class="cite-bracket">[</span>35<span class="cite-bracket">]</span></a></sup> The disorder has an autosomal dominant inheritance pattern. </p><p>A French study of 749 people diagnosed between 1995 and 2013 found that the mutation was inherited in 15% of patients, of which 85.5% was from the mother.<sup id="cite_ref-pmid26508576_36-0" class="reference"><a href="#cite_note-pmid26508576-36"><span class="cite-bracket">[</span>36<span class="cite-bracket">]</span></a></sup> Other studies have found inheritance rates of 6–10%. The majority cases are a result of a <i>de novo</i> (new to the family) deletion.<sup id="cite_ref-pmid21200182_13-1" class="reference"><a href="#cite_note-pmid21200182-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> This is because the 22q11 region has a structure that makes it highly prone to rearrangements during sperm or egg formation.<sup id="cite_ref-37" class="reference"><a href="#cite_note-37"><span class="cite-bracket">[</span>37<span class="cite-bracket">]</span></a></sup> </p><p>The exact mechanism that causes all of the associated features of the syndrome is unknown.<sup id="cite_ref-OMIM_31-1" class="reference"><a href="#cite_note-OMIM-31"><span class="cite-bracket">[</span>31<span class="cite-bracket">]</span></a></sup> Of the 30–50 genes in the deleted region, a number have been identified as possibly playing a role in the development of some of the signs and symptoms. </p> <div class="mw-heading mw-heading3"><h3 id="TBX1"><i>TBX1</i></h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=DiGeorge_syndrome&action=edit&section=5" title="Edit section: TBX1"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p><a href="/wiki/Haploinsufficiency" title="Haploinsufficiency">Haploinsufficiency</a> of the <i><a href="/wiki/TBX1" title="TBX1">TBX1</a></i> gene (T-box transcription factor TBX1) is thought to be the cause of some of the symptoms observed. <a href="/wiki/Point_mutation" title="Point mutation">Point mutations</a> in this gene have also been observed in individuals with DiGeorge syndrome.<sup id="cite_ref-OMIM_31-2" class="reference"><a href="#cite_note-OMIM-31"><span class="cite-bracket">[</span>31<span class="cite-bracket">]</span></a></sup> <i>TBX1</i> is part of the <a href="/wiki/T-box" title="T-box">T-box</a> family of genes which have an important role in tissue and organ formation during embryonic development and it may have a role in the regulation of <a href="/wiki/Cellular_differentiation" title="Cellular differentiation">differentiation</a> of post migration <a href="/wiki/Neural_crest_cells" class="mw-redirect" title="Neural crest cells">neural crest cells</a>. The neural crest forms many of the structures affected in DiGeorge syndrome, including the skull bones, <a href="/wiki/Mesenchyme" title="Mesenchyme">mesenchyme</a> of the face and palate, the outflow tract of the heart, and the thymus and parathyroid <a href="/wiki/Stroma_(animal_tissue)" class="mw-redirect" title="Stroma (animal tissue)">stroma</a>. When there is a loss of expression of <i><a href="/wiki/FGF18" title="FGF18">FGF18</a></i> during the development of the <a href="/wiki/Pharyngeal_arches" class="mw-redirect" title="Pharyngeal arches">pharyngeal arches</a>, neural crest cell death is seen. Although neither <i>FGF18</i> or <i>TBX1</i> is expressed in the neural crest cells, <i>TBX1</i> might have a role in the regulation of FGF18 expression, ensuring that the differentiation of these cells in the pharyngeal region is correct. Therefore, dysfunction of <i>TBX1</i> may be responsible for some of the symptoms in DiGeorge syndrome.<sup id="cite_ref-Packham_2003_32-1" class="reference"><a href="#cite_note-Packham_2003-32"><span class="cite-bracket">[</span>32<span class="cite-bracket">]</span></a></sup> </p><p>Research in mouse models has shown that deletion of <i>Tbx1</i> leads to several defects similar to those seen in humans, mainly affecting development of the <a href="/wiki/Great_arteries" title="Great arteries">great arteries</a> and the <a href="/wiki/Thymus" title="Thymus">thymus</a>.<sup id="cite_ref-pmid11242110_38-0" class="reference"><a href="#cite_note-pmid11242110-38"><span class="cite-bracket">[</span>38<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid11242049_39-0" class="reference"><a href="#cite_note-pmid11242049-39"><span class="cite-bracket">[</span>39<span class="cite-bracket">]</span></a></sup> </p><p>The abnormalities seen in the great arteries of mice deficient of <i>Tbx1</i> are a consequence of abnormal formation and remodelling of the <a href="/wiki/Aortic_arches" title="Aortic arches">aortic arches</a> during early development. The role of <i>Tbx1</i> for correct formation and remodelling of the aortic arches has been extensively studied in various mouse models suggesting the key role of <i>Tbx1</i> for cardiovascular development and the phenotypes seen in DiGeorge syndrome. </p> <div class="mw-heading mw-heading3"><h3 id="DGCR8"><i>DGCR8</i></h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=DiGeorge_syndrome&action=edit&section=6" title="Edit section: DGCR8"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>In mice, haploinsufficiency of the <i><a href="/wiki/DGCR8" class="mw-redirect" title="DGCR8">Dgcr8</a></i> gene has been linked to improper regulation of the microRNA <a href="/wiki/MiR-338" title="MiR-338">miR-338</a> and 22q11.2 deletion phenotypes.<sup id="cite_ref-pmid27892953_40-0" class="reference"><a href="#cite_note-pmid27892953-40"><span class="cite-bracket">[</span>40<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="TANGO2"><i>TANGO2</i></h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=DiGeorge_syndrome&action=edit&section=7" title="Edit section: TANGO2"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Transport and golgi organization 2 homolog (<a href="/wiki/TANGO2" title="TANGO2">TANGO2</a>) also known as chromosome 22 open reading frame 25 (C22orf25) is a protein that in humans is encoded by the <i>TANGO2</i> gene.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (May 2022)">citation needed</span></a></i>]</sup> </p><p>The gene coding for C22orf25 is located on chromosome 22 and the location q11.21, so it is often associated with 22q11.2 deletion syndrome.<sup id="cite_ref-autogenerated1_41-0" class="reference"><a href="#cite_note-autogenerated1-41"><span class="cite-bracket">[</span>41<span class="cite-bracket">]</span></a></sup> But with TANGO2 disorder being autosomal recessive, will not occur in all cases.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (September 2023)">citation needed</span></a></i>]</sup> </p><p>Mutations in the <i>TANGO2</i> gene may cause defects in mitochondrial <a href="/wiki/%CE%92-oxidation" class="mw-redirect" title="Β-oxidation">β-oxidation</a><sup id="cite_ref-Kremer_2016_42-0" class="reference"><a href="#cite_note-Kremer_2016-42"><span class="cite-bracket">[</span>42<span class="cite-bracket">]</span></a></sup> and increased <a href="/wiki/Endoplasmic_reticulum" title="Endoplasmic reticulum">endoplasmic reticulum</a> stress and a reduction in <a href="/wiki/Golgi_apparatus" title="Golgi apparatus">Golgi</a> volume density.<sup id="cite_ref-Lalani_2016_43-0" class="reference"><a href="#cite_note-Lalani_2016-43"><span class="cite-bracket">[</span>43<span class="cite-bracket">]</span></a></sup> These mutations results in early onset <a href="/wiki/Hypoglycemia" title="Hypoglycemia">hypoglycemia</a>, <a href="/wiki/Hyperammonemia" title="Hyperammonemia">hyperammonemia</a>, <a href="/wiki/Rhabdomyolysis" title="Rhabdomyolysis">rhabdomyolysis</a>, <a href="/wiki/Cardiac_arrhythmia" class="mw-redirect" title="Cardiac arrhythmia">cardiac arrhythmias</a>, and <a href="/wiki/Encephalopathy" title="Encephalopathy">encephalopathy</a> that later develops into cognitive impairment.<sup id="cite_ref-Kremer_2016_42-1" class="reference"><a href="#cite_note-Kremer_2016-42"><span class="cite-bracket">[</span>42<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-Lalani_2016_43-1" class="reference"><a href="#cite_note-Lalani_2016-43"><span class="cite-bracket">[</span>43<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading3"><h3 id="Parkinson's_disease_genes"><span id="Parkinson.27s_disease_genes"></span>Parkinson's disease genes</h3><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=DiGeorge_syndrome&action=edit&section=8" title="Edit section: Parkinson's disease genes"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>22q11.2DS has been associated with a higher risk of early onset <a href="/wiki/Parkinson%27s_disease" title="Parkinson's disease">Parkinson's disease</a> (PD). The neuropathology seen is similar to <a href="/wiki/LRRK2" title="LRRK2">LRRK2</a>-associated PD. None of the genes affected in individuals with 22q11.2DS have previously been linked to PD but there are a number that are likely candidates. These include <i>DGCR8</i>, which is important for biogenesis of brain microRNA, <i><a href="/wiki/SEPT5" title="SEPT5">SEPT5</a></i>, which encodes a protein that interacts with the <a href="/wiki/PARK2" class="mw-redirect" title="PARK2">PARK2</a> protein, <i><a href="/wiki/COMT" class="mw-redirect" title="COMT">COMT</a></i>, which is involved in regulating dopamine levels, and microRNA miR-185, which is thought to target known PD locus <i>LRRK2</i>.<sup id="cite_ref-Butcher_2013_22-1" class="reference"><a href="#cite_note-Butcher_2013-22"><span class="cite-bracket">[</span>22<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Diagnosis">Diagnosis</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=DiGeorge_syndrome&action=edit&section=9" title="Edit section: Diagnosis"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Fish_analysis_di_george_syndrome.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/9/96/Fish_analysis_di_george_syndrome.jpg/220px-Fish_analysis_di_george_syndrome.jpg" decoding="async" width="220" height="165" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/9/96/Fish_analysis_di_george_syndrome.jpg/330px-Fish_analysis_di_george_syndrome.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/9/96/Fish_analysis_di_george_syndrome.jpg/440px-Fish_analysis_di_george_syndrome.jpg 2x" data-file-width="1200" data-file-height="900" /></a><figcaption>Result of FISH analysis using LSI probe (TUPLE 1) from DiGeorge/velocardiofacial syndrome critical region. TUPLE 1 (<a href="/wiki/HIRA" title="HIRA">HIRA</a>) probe was labeled in Spectrum Orange and <a href="/wiki/Arylsulfatase_A" title="Arylsulfatase A">Arylsulfatase A</a> (ARSA) in Spectrum Green as control. Absence of the orange signal indicates deletion of the TUPLE 1 locus at 22q11.2.</figcaption></figure> <figure class="mw-default-size" typeof="mw:File/Thumb"><a href="/wiki/File:Brain_computer_tomography_cuts_of_the_patient_with_22q11.2_syndrome,_demonstrating_basal_ganglia_and_periventricular_calcification.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/e/ec/Brain_computer_tomography_cuts_of_the_patient_with_22q11.2_syndrome%2C_demonstrating_basal_ganglia_and_periventricular_calcification.jpg/220px-Brain_computer_tomography_cuts_of_the_patient_with_22q11.2_syndrome%2C_demonstrating_basal_ganglia_and_periventricular_calcification.jpg" decoding="async" width="220" height="122" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/e/ec/Brain_computer_tomography_cuts_of_the_patient_with_22q11.2_syndrome%2C_demonstrating_basal_ganglia_and_periventricular_calcification.jpg/330px-Brain_computer_tomography_cuts_of_the_patient_with_22q11.2_syndrome%2C_demonstrating_basal_ganglia_and_periventricular_calcification.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/e/ec/Brain_computer_tomography_cuts_of_the_patient_with_22q11.2_syndrome%2C_demonstrating_basal_ganglia_and_periventricular_calcification.jpg/440px-Brain_computer_tomography_cuts_of_the_patient_with_22q11.2_syndrome%2C_demonstrating_basal_ganglia_and_periventricular_calcification.jpg 2x" data-file-width="930" data-file-height="515" /></a><figcaption>Brain computer tomography cuts of the person, demonstrating basal ganglia and periventricular calcification<sup id="cite_ref-pmid18053182_44-0" class="reference"><a href="#cite_note-pmid18053182-44"><span class="cite-bracket">[</span>44<span class="cite-bracket">]</span></a></sup></figcaption></figure> <p>Diagnosis of DiGeorge syndrome can be difficult due to the number of potential symptoms and the variation in phenotypes between individuals. It is suspected in patients with one or more signs of the deletion. In these cases a diagnosis of 22q11.2DS is confirmed by observation of a deletion of part of the long arm (q) of chromosome 22, region 1, band 1, sub-band 2. Genetic analysis is normally performed using <a href="/wiki/Fluorescence_in_situ_hybridization" title="Fluorescence in situ hybridization">fluorescence <i>in situ</i> hybridization</a> (FISH), which is able to detect microdeletions that standard karyotyping (e.g. <a href="/wiki/G-banding" class="mw-redirect" title="G-banding">G-banding</a>) miss. Newer methods of analysis include <a href="/wiki/Multiplex_ligation-dependent_probe_amplification" title="Multiplex ligation-dependent probe amplification">multiplex ligation-dependent probe amplification</a> assay (MLPA) and <a href="/wiki/Quantitative_polymerase_chain_reaction" class="mw-redirect" title="Quantitative polymerase chain reaction">quantitative polymerase chain reaction</a> (qPCR), both of which can detect atypical deletions in 22q11.2 that are not detected by FISH.<sup id="cite_ref-45" class="reference"><a href="#cite_note-45"><span class="cite-bracket">[</span>45<span class="cite-bracket">]</span></a></sup> qPCR analysis is also quicker than FISH, which can have a turn around of 3 to 14 days.<sup id="cite_ref-pmid21200182_13-2" class="reference"><a href="#cite_note-pmid21200182-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> </p><p>A 2008 study of a new high-definition MLPA probe developed to detect <a href="/wiki/Copy_number_variation" title="Copy number variation">copy number variation</a> at 37 points on chromosome 22q found it to be as reliable as FISH in detecting normal 22q11.2 deletions. It was also able to detect smaller atypical deletions that are easily missed using FISH. These factors, along with the lower expense and easier testing mean that this MLPA probe could replace FISH in clinical testing.<sup id="cite_ref-pmid18033723_46-0" class="reference"><a href="#cite_note-pmid18033723-46"><span class="cite-bracket">[</span>46<span class="cite-bracket">]</span></a></sup> </p><p>Genetic testing using BACs-on-Beads has been successful in detecting deletions consistent with 22q11.2DS during prenatal testing.<sup id="cite_ref-pmid24795887_47-0" class="reference"><a href="#cite_note-pmid24795887-47"><span class="cite-bracket">[</span>47<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid24893808_48-0" class="reference"><a href="#cite_note-pmid24893808-48"><span class="cite-bracket">[</span>48<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Array-comparative_genomic_hybridization" class="mw-redirect" title="Array-comparative genomic hybridization">Array-comparative genomic hybridization</a> (array-CGH) uses a large number of probes embossed in a chip to screen the entire genome for deletions or duplications. It can be used in post and pre-natal diagnosis of 22q11.2.<sup id="cite_ref-pmid21549014_49-0" class="reference"><a href="#cite_note-pmid21549014-49"><span class="cite-bracket">[</span>49<span class="cite-bracket">]</span></a></sup> </p><p>Fewer than 5% of individuals with symptoms of DiGeorge syndrome have normal routine cytogenetic studies and negative FISH testing. In these cases, atypical deletions are the cause.<sup id="cite_ref-50" class="reference"><a href="#cite_note-50"><span class="cite-bracket">[</span>50<span class="cite-bracket">]</span></a></sup> Some cases of 22q11.2 deletion syndrome have defects in other chromosomes, notably a deletion in chromosome region 10p14.<sup id="cite_ref-Bartsch_2003_35-1" class="reference"><a href="#cite_note-Bartsch_2003-35"><span class="cite-bracket">[</span>35<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Treatment">Treatment</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=DiGeorge_syndrome&action=edit&section=10" title="Edit section: Treatment"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>No cure is known for DiGeorge syndrome. Certain individual features are treatable using standard treatments.<sup id="cite_ref-51" class="reference"><a href="#cite_note-51"><span class="cite-bracket">[</span>51<span class="cite-bracket">]</span></a></sup> The key is to identify each of the associated features and manage each using the best available treatments.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (May 2022)">citation needed</span></a></i>]</sup> </p><p>For example, in children, it is important that the immune problems are identified early, as special precautions are required regarding blood transfusion and immunization with live vaccines.<sup id="cite_ref-52" class="reference"><a href="#cite_note-52"><span class="cite-bracket">[</span>52<span class="cite-bracket">]</span></a></sup> <a href="/wiki/Thymus_transplantation" title="Thymus transplantation">Thymus transplantation</a> can be used to address absence of the thymus in the rare, so-called "complete" DiGeorge syndrome.<sup id="cite_ref-pmid17284531_53-0" class="reference"><a href="#cite_note-pmid17284531-53"><span class="cite-bracket">[</span>53<span class="cite-bracket">]</span></a></sup> Bacterial <a href="/wiki/Infections" class="mw-redirect" title="Infections">infections</a> are treated with <a href="/wiki/Antibiotics" class="mw-redirect" title="Antibiotics">antibiotics</a>. <a href="/wiki/Cardiac_surgery" title="Cardiac surgery">Cardiac surgery</a> is often required for congenital heart abnormalities. Hypoparathyroidism causing hypocalcaemia often requires lifelong vitamin D and calcium supplements. Specialty clinics that provide multi-system care allow for individuals with DiGeorge syndrome to be evaluated for all of their health needs and allow for careful monitoring of the patients. An example of this type of system is the 22q Deletion Clinic at <a href="/wiki/The_Hospital_for_Sick_Children,_Toronto" class="mw-redirect" title="The Hospital for Sick Children, Toronto">SickKids Hospital</a> in Toronto, Canada, which provides children with 22q11 deletion syndrome ongoing support, medical care and information from a team of health care workers.<sup id="cite_ref-54" class="reference"><a href="#cite_note-54"><span class="cite-bracket">[</span>54<span class="cite-bracket">]</span></a></sup> </p><p><a href="/wiki/Metirosine" class="mw-redirect" title="Metirosine">Metirosine</a> (methyltyrosine) is used as an off-label treatment for DiGeorge syndrome.<sup id="cite_ref-55" class="reference"><a href="#cite_note-55"><span class="cite-bracket">[</span>55<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Epidemiology">Epidemiology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=DiGeorge_syndrome&action=edit&section=11" title="Edit section: Epidemiology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>DiGeorge syndrome is estimated to affect between one in 2000 and one in 4000 live births.<sup id="cite_ref-pmid25569435_56-0" class="reference"><a href="#cite_note-pmid25569435-56"><span class="cite-bracket">[</span>56<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid14736631_57-0" class="reference"><a href="#cite_note-pmid14736631-57"><span class="cite-bracket">[</span>57<span class="cite-bracket">]</span></a></sup> This estimate is based on major birth defects and may be an underestimate, because some individuals with the deletion have few symptoms and may not have been formally diagnosed. It is one of the most common causes of <a href="/wiki/Intellectual_disability" title="Intellectual disability">intellectual disability</a> due to a genetic deletion syndrome.<sup id="cite_ref-pmid10706158_58-0" class="reference"><a href="#cite_note-pmid10706158-58"><span class="cite-bracket">[</span>58<span class="cite-bracket">]</span></a></sup> </p><p>The number of people affected has been expected to rise because of multiple reasons: (1) surgical and medical advances, an increasing number of people are surviving heart defects associated with the syndrome. These individuals are in turn having children. The chances of a person with DiGeorge syndrome having an affected child is 50% for each pregnancy; (2) Parents who have affected children, but who were unaware of their own genetic conditions, are now being diagnosed as genetic testing become available; (3) Molecular genetics techniques such as FISH (fluorescence in situ hybridization) have limitations and have not been able to detect all 22q11.2 deletions. Newer technologies have been able to detect these atypical deletions.<sup id="cite_ref-59" class="reference"><a href="#cite_note-59"><span class="cite-bracket">[</span>59<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Etymology">Etymology</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=DiGeorge_syndrome&action=edit&section=12" title="Edit section: Etymology"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>The signs and symptoms of DiGeorge syndrome are so varied that different groupings of its features were once regarded as separate conditions. These original classifications included velocardiofacial syndrome, Shprintzen syndrome, DiGeorge sequence/syndrome, Sedlackova syndrome, and conotruncal anomaly face syndrome. All are now understood to be presentations of a single syndrome. </p><p>ICD-10 2015 version mentions DiGeorge syndrome using two codes: D82.1 (Di George syndrome)<sup id="cite_ref-60" class="reference"><a href="#cite_note-60"><span class="cite-bracket">[</span>60<span class="cite-bracket">]</span></a></sup> and Q93.81 (Velo-cardio-facial syndrome).<sup id="cite_ref-Velo-cardio-facial_syndrome_61-0" class="reference"><a href="#cite_note-Velo-cardio-facial_syndrome-61"><span class="cite-bracket">[</span>61<span class="cite-bracket">]</span></a></sup> The ICD-11 Beta Draft discusses the syndrome under “LD50.P1 CATCH 22 phenotype".<sup id="cite_ref-Velo-cardio-facial_syndrome_61-1" class="reference"><a href="#cite_note-Velo-cardio-facial_syndrome-61"><span class="cite-bracket">[</span>61<span class="cite-bracket">]</span></a></sup> However, since this syndrome is caused by the deletion of a small piece of chromosome 22, some recommend that the name "22q11.2 deletion syndrome (22q11.2DS)" be used.<sup id="cite_ref-pmid21570089_62-0" class="reference"><a href="#cite_note-pmid21570089-62"><span class="cite-bracket">[</span>62<span class="cite-bracket">]</span></a></sup><sup id="cite_ref-pmid21200182_13-3" class="reference"><a href="#cite_note-pmid21200182-13"><span class="cite-bracket">[</span>13<span class="cite-bracket">]</span></a></sup> Some experts support changing the name of both DiGeorge and velocardiofacial syndromes to CATCH-22.<sup class="noprint Inline-Template Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:Citation_needed" title="Wikipedia:Citation needed"><span title="This claim needs references to reliable sources. (June 2017)">citation needed</span></a></i>]</sup> The International 22q11.2 Foundation, through its "Same Name Campaign", advocates for the name 22q11.2 deletion syndrome.<sup id="cite_ref-63" class="reference"><a href="#cite_note-63"><span class="cite-bracket">[</span>63<span class="cite-bracket">]</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="See_also">See also</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=DiGeorge_syndrome&action=edit&section=13" title="Edit section: See also"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1184024115"><div class="div-col" style="column-width: 20em;"> <ul><li><a href="/wiki/22q11.2_duplication_syndrome" title="22q11.2 duplication syndrome">22q11.2 duplication syndrome</a></li> <li><a href="/wiki/Asymmetric_crying_facies" title="Asymmetric crying facies">Asymmetric crying facies</a></li> <li><a href="/wiki/Contiguous_gene_syndrome" title="Contiguous gene syndrome">Contiguous gene syndrome</a></li> <li><i><a href="/wiki/DGCR2" title="DGCR2">DGCR2</a></i></li> <li><a href="/wiki/List_of_radiographic_findings_associated_with_cutaneous_conditions" title="List of radiographic findings associated with cutaneous conditions">List of radiographic findings associated with cutaneous conditions</a></li> <li><a href="/wiki/List_of_syndromes" title="List of syndromes">List of syndromes</a></li> <li><a href="/wiki/Characteristics_of_syndromic_ASD_conditions" class="mw-redirect" title="Characteristics of syndromic ASD conditions">Characteristics of syndromic ASD conditions</a></li> <li><a href="/wiki/Genetic_counseling" title="Genetic counseling">Genetic counseling</a></li> <li><a href="/wiki/Zellweger_syndrome" title="Zellweger syndrome">Zellweger syndrome</a></li> <li><a href="/wiki/CHARGE_syndrome" title="CHARGE syndrome">CHARGE syndrome</a></li></ul></div> <div class="mw-heading mw-heading2"><h2 id="References">References</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=DiGeorge_syndrome&action=edit&section=14" title="Edit section: References"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <style data-mw-deduplicate="TemplateStyles:r1239543626">.mw-parser-output .reflist{margin-bottom:0.5em;list-style-type:decimal}@media screen{.mw-parser-output .reflist{font-size:90%}}.mw-parser-output .reflist .references{font-size:100%;margin-bottom:0;list-style-type:inherit}.mw-parser-output .reflist-columns-2{column-width:30em}.mw-parser-output .reflist-columns-3{column-width:25em}.mw-parser-output .reflist-columns{margin-top:0.3em}.mw-parser-output .reflist-columns ol{margin-top:0}.mw-parser-output .reflist-columns li{page-break-inside:avoid;break-inside:avoid-column}.mw-parser-output .reflist-upper-alpha{list-style-type:upper-alpha}.mw-parser-output .reflist-upper-roman{list-style-type:upper-roman}.mw-parser-output .reflist-lower-alpha{list-style-type:lower-alpha}.mw-parser-output .reflist-lower-greek{list-style-type:lower-greek}.mw-parser-output .reflist-lower-roman{list-style-type:lower-roman}</style><div class="reflist"> <div class="mw-references-wrap mw-references-columns"><ol class="references"> <li id="cite_note-Bolognia-1"><span class="mw-cite-backlink"><b><a href="#cite_ref-Bolognia_1-0">^</a></b></span> <span class="reference-text"><style data-mw-deduplicate="TemplateStyles:r1238218222">.mw-parser-output cite.citation{font-style:inherit;word-wrap:break-word}.mw-parser-output .citation q{quotes:"\"""\"""'""'"}.mw-parser-output .citation:target{background-color:rgba(0,127,255,0.133)}.mw-parser-output .id-lock-free.id-lock-free a{background:url("//upload.wikimedia.org/wikipedia/commons/6/65/Lock-green.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-limited.id-lock-limited a,.mw-parser-output .id-lock-registration.id-lock-registration a{background:url("//upload.wikimedia.org/wikipedia/commons/d/d6/Lock-gray-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .id-lock-subscription.id-lock-subscription a{background:url("//upload.wikimedia.org/wikipedia/commons/a/aa/Lock-red-alt-2.svg")right 0.1em center/9px no-repeat}.mw-parser-output .cs1-ws-icon a{background:url("//upload.wikimedia.org/wikipedia/commons/4/4c/Wikisource-logo.svg")right 0.1em center/12px no-repeat}body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-free a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-limited a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-registration a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .id-lock-subscription a,body:not(.skin-timeless):not(.skin-minerva) .mw-parser-output .cs1-ws-icon a{background-size:contain;padding:0 1em 0 0}.mw-parser-output .cs1-code{color:inherit;background:inherit;border:none;padding:inherit}.mw-parser-output .cs1-hidden-error{display:none;color:var(--color-error,#d33)}.mw-parser-output .cs1-visible-error{color:var(--color-error,#d33)}.mw-parser-output .cs1-maint{display:none;color:#085;margin-left:0.3em}.mw-parser-output .cs1-kern-left{padding-left:0.2em}.mw-parser-output .cs1-kern-right{padding-right:0.2em}.mw-parser-output .citation .mw-selflink{font-weight:inherit}@media screen{.mw-parser-output .cs1-format{font-size:95%}html.skin-theme-clientpref-night .mw-parser-output .cs1-maint{color:#18911f}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .cs1-maint{color:#18911f}}</style><cite id="CITEREFRapini,_Ronald_P.Bolognia,_Jean_L.Jorizzo,_Joseph_L.2007" class="citation book cs1">Rapini, Ronald P.; Bolognia, Jean L.; Jorizzo, Joseph L. (2007). <i>Dermatology: 2-Volume Set</i>. St. Louis: Mosby. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-1-4160-2999-1" title="Special:BookSources/978-1-4160-2999-1"><bdi>978-1-4160-2999-1</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Dermatology%3A+2-Volume+Set&rft.place=St.+Louis&rft.pub=Mosby&rft.date=2007&rft.isbn=978-1-4160-2999-1&rft.au=Rapini%2C+Ronald+P.&rft.au=Bolognia%2C+Jean+L.&rft.au=Jorizzo%2C+Joseph+L.&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Andrews-2"><span class="mw-cite-backlink"><b><a href="#cite_ref-Andrews_2-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFJames,_William_D.Berger,_Timothy_G.2006" class="citation book cs1">James, William D.; Berger, Timothy G.; et al. (2006). <i>Andrews' Diseases of the Skin: clinical Dermatology</i>. Saunders Elsevier. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/978-0-7216-2921-6" title="Special:BookSources/978-0-7216-2921-6"><bdi>978-0-7216-2921-6</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Andrews%27+Diseases+of+the+Skin%3A+clinical+Dermatology&rft.pub=Saunders+Elsevier&rft.date=2006&rft.isbn=978-0-7216-2921-6&rft.au=James%2C+William+D.&rft.au=Berger%2C+Timothy+G.&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-GARD2017-3"><span class="mw-cite-backlink">^ <a href="#cite_ref-GARD2017_3-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-GARD2017_3-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-GARD2017_3-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-GARD2017_3-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-GARD2017_3-4"><sup><i><b>e</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://rarediseases.info.nih.gov/diseases/10299/22q112-deletion-syndrome">"22q11.2 deletion syndrome"</a>. <i>Genetic and Rare Diseases Information Center (GARD)</i>. <a rel="nofollow" class="external text" href="https://web.archive.org/web/20170705002946/https://rarediseases.info.nih.gov/diseases/10299/22q112-deletion-syndrome">Archived</a> from the original on 5 July 2017<span class="reference-accessdate">. Retrieved <span class="nowrap">15 May</span> 2017</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=Genetic+and+Rare+Diseases+Information+Center+%28GARD%29&rft.atitle=22q11.2+deletion+syndrome&rft_id=https%3A%2F%2Frarediseases.info.nih.gov%2Fdiseases%2F10299%2F22q112-deletion-syndrome&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid272242-4"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid272242_4-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFShprintzenGoldbergLewinSidoti1978" class="citation journal cs1">Shprintzen RJ, Goldberg RB, Lewin ML, Sidoti EJ, Berkman MD, Argamaso RV, Young D (January 1978). "A new syndrome involving cleft palate, cardiac anomalies, typical facies, and learning disabilities: velo-cardio-facial syndrome". <i>Cleft Palate J</i>. <b>15</b> (1): 56–62. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/272242">272242</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Cleft+Palate+J&rft.atitle=A+new+syndrome+involving+cleft+palate%2C+cardiac+anomalies%2C+typical+facies%2C+and+learning+disabilities%3A+velo-cardio-facial+syndrome&rft.volume=15&rft.issue=1&rft.pages=56-62&rft.date=1978-01&rft_id=info%3Apmid%2F272242&rft.aulast=Shprintzen&rft.aufirst=RJ&rft.au=Goldberg%2C+RB&rft.au=Lewin%2C+ML&rft.au=Sidoti%2C+EJ&rft.au=Berkman%2C+MD&rft.au=Argamaso%2C+RV&rft.au=Young%2C+D&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-NORD2017-5"><span class="mw-cite-backlink">^ <a href="#cite_ref-NORD2017_5-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-NORD2017_5-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-NORD2017_5-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-NORD2017_5-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-NORD2017_5-4"><sup><i><b>e</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://rarediseases.org/rare-diseases/chromosome-22q11-2-deletion-syndrome/">"Chromosome 22q11.2 Deletion Syndrome - NORD (National Organization for Rare Disorders)"</a>. <i>NORD (National Organization for Rare Disorders)</i>. 2017. <a rel="nofollow" class="external text" href="https://web.archive.org/web/20170128152003/https://rarediseases.org/rare-diseases/chromosome-22q11-2-deletion-syndrome/">Archived</a> from the original on 28 January 2017<span class="reference-accessdate">. Retrieved <span class="nowrap">10 July</span> 2017</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=NORD+%28National+Organization+for+Rare+Disorders%29&rft.atitle=Chromosome+22q11.2+Deletion+Syndrome+-+NORD+%28National+Organization+for+Rare+Disorders%29&rft.date=2017&rft_id=https%3A%2F%2Frarediseases.org%2Frare-diseases%2Fchromosome-22q11-2-deletion-syndrome%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid8230157-6"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid8230157_6-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBurnTakaoWilsonCross1993" class="citation journal cs1">Burn J, Takao A, Wilson D, Cross I, Momma K, Wadey R, Scambler P, Goodship J (October 1993). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016562">"Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11"</a>. <i>J. Med. Genet</i>. <b>30</b> (10): 822–4. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1136%2Fjmg.30.10.822">10.1136/jmg.30.10.822</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1016562">1016562</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/8230157">8230157</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=J.+Med.+Genet.&rft.atitle=Conotruncal+anomaly+face+syndrome+is+associated+with+a+deletion+within+chromosome+22q11&rft.volume=30&rft.issue=10&rft.pages=822-4&rft.date=1993-10&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1016562%23id-name%3DPMC&rft_id=info%3Apmid%2F8230157&rft_id=info%3Adoi%2F10.1136%2Fjmg.30.10.822&rft.aulast=Burn&rft.aufirst=J&rft.au=Takao%2C+A&rft.au=Wilson%2C+D&rft.au=Cross%2C+I&rft.au=Momma%2C+K&rft.au=Wadey%2C+R&rft.au=Scambler%2C+P&rft.au=Goodship%2C+J&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1016562&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-GHR2013-7"><span class="mw-cite-backlink">^ <a href="#cite_ref-GHR2013_7-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-GHR2013_7-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-GHR2013_7-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-GHR2013_7-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-GHR2013_7-4"><sup><i><b>e</b></i></sup></a> <a href="#cite_ref-GHR2013_7-5"><sup><i><b>f</b></i></sup></a> <a href="#cite_ref-GHR2013_7-6"><sup><i><b>g</b></i></sup></a> <a href="#cite_ref-GHR2013_7-7"><sup><i><b>h</b></i></sup></a> <a href="#cite_ref-GHR2013_7-8"><sup><i><b>i</b></i></sup></a> <a href="#cite_ref-GHR2013_7-9"><sup><i><b>j</b></i></sup></a> <a href="#cite_ref-GHR2013_7-10"><sup><i><b>k</b></i></sup></a> <a href="#cite_ref-GHR2013_7-11"><sup><i><b>l</b></i></sup></a> <a href="#cite_ref-GHR2013_7-12"><sup><i><b>m</b></i></sup></a> <a href="#cite_ref-GHR2013_7-13"><sup><i><b>n</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome">"22q11.2 deletion syndrome"</a>. <i>Genetics Home Reference</i>. July 2013. <a rel="nofollow" class="external text" href="https://web.archive.org/web/20170513032315/https://ghr.nlm.nih.gov/condition/22q112-deletion-syndrome">Archived</a> from the original on 13 May 2017<span class="reference-accessdate">. Retrieved <span class="nowrap">15 May</span> 2017</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=Genetics+Home+Reference&rft.atitle=22q11.2+deletion+syndrome&rft.date=2013-07&rft_id=https%3A%2F%2Fghr.nlm.nih.gov%2Fcondition%2F22q112-deletion-syndrome&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-8"><span class="mw-cite-backlink"><b><a href="#cite_ref-8">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFShahSinnott2022" class="citation journal cs1">Shah, Anvay; Sinnott, Bridget (2022-02-06). <a rel="nofollow" class="external text" href="https://www.aaceclinicalcasereports.com/article/S2376-0605(22)00006-2/abstract">"Newly Diagnosed Hypoparathyroidism as the Initial Presentation of DiGeorge Syndrome in a 26-Year-Old Man"</a>. <i>AACE Clinical Case Reports</i>. <b>8</b> (4): 181–182. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.aace.2022.02.001">10.1016/j.aace.2022.02.001</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/2376-0605">2376-0605</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC9363511">9363511</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/35959083">35959083</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:246664448">246664448</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=AACE+Clinical+Case+Reports&rft.atitle=Newly+Diagnosed+Hypoparathyroidism+as+the+Initial+Presentation+of+DiGeorge+Syndrome+in+a+26-Year-Old+Man&rft.volume=8&rft.issue=4&rft.pages=181-182&rft.date=2022-02-06&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC9363511%23id-name%3DPMC&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A246664448%23id-name%3DS2CID&rft_id=info%3Adoi%2F10.1016%2Fj.aace.2022.02.001&rft.issn=2376-0605&rft_id=info%3Apmid%2F35959083&rft.aulast=Shah&rft.aufirst=Anvay&rft.au=Sinnott%2C+Bridget&rft_id=https%3A%2F%2Fwww.aaceclinicalcasereports.com%2Farticle%2FS2376-0605%2822%2900006-2%2Fabstract&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Sul2007-9"><span class="mw-cite-backlink"><b><a href="#cite_ref-Sul2007_9-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFKobrynskiSullivan2007" class="citation journal cs1">Kobrynski LJ, Sullivan KE (October 2007). "Velocardiofacial syndrome, DiGeorge syndrome: the chromosome 22q11.2 deletion syndromes". <i>Lancet</i>. <b>370</b> (9596): 1443–52. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2FS0140-6736%2807%2961601-8">10.1016/S0140-6736(07)61601-8</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/17950858">17950858</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:32595060">32595060</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Lancet&rft.atitle=Velocardiofacial+syndrome%2C+DiGeorge+syndrome%3A+the+chromosome+22q11.2+deletion+syndromes&rft.volume=370&rft.issue=9596&rft.pages=1443-52&rft.date=2007-10&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A32595060%23id-name%3DS2CID&rft_id=info%3Apmid%2F17950858&rft_id=info%3Adoi%2F10.1016%2FS0140-6736%2807%2961601-8&rft.aulast=Kobrynski&rft.aufirst=LJ&rft.au=Sullivan%2C+KE&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-10"><span class="mw-cite-backlink"><b><a href="#cite_ref-10">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFGoldmanSchafer2015" class="citation book cs1">Goldman, Lee; Schafer, Andrew I. (2015). <a rel="nofollow" class="external text" href="https://books.google.com/books?id=40Z9CAAAQBAJ&pg=PA702"><i>Goldman-Cecil Medicine E-Book</i></a>. Elsevier Health Sciences. p. 702. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/9780323322850" title="Special:BookSources/9780323322850"><bdi>9780323322850</bdi></a>. <a rel="nofollow" class="external text" href="https://web.archive.org/web/20171105195758/https://books.google.com/books?id=40Z9CAAAQBAJ&pg=PA702">Archived</a> from the original on 2017-11-05.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Goldman-Cecil+Medicine+E-Book&rft.pages=702&rft.pub=Elsevier+Health+Sciences&rft.date=2015&rft.isbn=9780323322850&rft.aulast=Goldman&rft.aufirst=Lee&rft.au=Schafer%2C+Andrew+I.&rft_id=https%3A%2F%2Fbooks.google.com%2Fbooks%3Fid%3D40Z9CAAAQBAJ%26pg%3DPA702&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-11"><span class="mw-cite-backlink"><b><a href="#cite_ref-11">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFDiGeorge1968" class="citation journal cs1">DiGeorge, A (1968). "Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism". <i>March of Dimes-Birth Defects Foundation</i>: 116–21.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=March+of+Dimes-Birth+Defects+Foundation&rft.atitle=Congenital+absence+of+the+thymus+and+its+immunologic+consequences%3A+concurrence+with+congenital+hypoparathyroidism.&rft.pages=116-21&rft.date=1968&rft.aulast=DiGeorge&rft.aufirst=A&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Ang2006-12"><span class="mw-cite-backlink">^ <a href="#cite_ref-Ang2006_12-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Ang2006_12-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFRestivoSarkozyDigilioDallapiccola2006" class="citation journal cs1">Restivo A, Sarkozy A, Digilio MC, Dallapiccola B, Marino B (February 2006). "22q11 deletion syndrome: a review of some developmental biology aspects of the cardiovascular system". <i>J Cardiovasc Med (Hagerstown)</i>. <b>7</b> (2): 77–85. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.2459%2F01.JCM.0000203848.90267.3e">10.2459/01.JCM.0000203848.90267.3e</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/16645366">16645366</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:25905258">25905258</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=J+Cardiovasc+Med+%28Hagerstown%29&rft.atitle=22q11+deletion+syndrome%3A+a+review+of+some+developmental+biology+aspects+of+the+cardiovascular+system&rft.volume=7&rft.issue=2&rft.pages=77-85&rft.date=2006-02&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A25905258%23id-name%3DS2CID&rft_id=info%3Apmid%2F16645366&rft_id=info%3Adoi%2F10.2459%2F01.JCM.0000203848.90267.3e&rft.aulast=Restivo&rft.aufirst=A&rft.au=Sarkozy%2C+A&rft.au=Digilio%2C+MC&rft.au=Dallapiccola%2C+B&rft.au=Marino%2C+B&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid21200182-13"><span class="mw-cite-backlink">^ <a href="#cite_ref-pmid21200182_13-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-pmid21200182_13-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-pmid21200182_13-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-pmid21200182_13-3"><sup><i><b>d</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMcDonald-McGinnSullivan2011" class="citation journal cs1">McDonald-McGinn DM, Sullivan KE (January 2011). <a rel="nofollow" class="external text" href="https://doi.org/10.1097%2FMD.0b013e3182060469">"Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome)"</a>. <i>Medicine (Baltimore)</i>. <b>90</b> (1): 1–18. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1097%2FMD.0b013e3182060469">10.1097/MD.0b013e3182060469</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/21200182">21200182</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:27954882">27954882</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Medicine+%28Baltimore%29&rft.atitle=Chromosome+22q11.2+deletion+syndrome+%28DiGeorge+syndrome%2Fvelocardiofacial+syndrome%29&rft.volume=90&rft.issue=1&rft.pages=1-18&rft.date=2011-01&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A27954882%23id-name%3DS2CID&rft_id=info%3Apmid%2F21200182&rft_id=info%3Adoi%2F10.1097%2FMD.0b013e3182060469&rft.aulast=McDonald-McGinn&rft.aufirst=DM&rft.au=Sullivan%2C+KE&rft_id=https%3A%2F%2Fdoi.org%2F10.1097%252FMD.0b013e3182060469&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Bebbane_2006_psychosis-14"><span class="mw-cite-backlink"><b><a href="#cite_ref-Bebbane_2006_psychosis_14-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFDebbanéGlaserDavidFeinstein2006" class="citation journal cs1">Debbané M, Glaser B, David MK, Feinstein C, Eliez S (2006). "Psychotic symptoms in children and adolescents with 22q11.2 deletion syndrome: Neuropsychological and behavioral implications". <i>Schizophr. Res</i>. <b>84</b> (2–3): 187–93. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.schres.2006.01.019">10.1016/j.schres.2006.01.019</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/16545541">16545541</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:9999210">9999210</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Schizophr.+Res.&rft.atitle=Psychotic+symptoms+in+children+and+adolescents+with+22q11.2+deletion+syndrome%3A+Neuropsychological+and+behavioral+implications&rft.volume=84&rft.issue=2%E2%80%933&rft.pages=187-93&rft.date=2006&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A9999210%23id-name%3DS2CID&rft_id=info%3Apmid%2F16545541&rft_id=info%3Adoi%2F10.1016%2Fj.schres.2006.01.019&rft.aulast=Debban%C3%A9&rft.aufirst=M&rft.au=Glaser%2C+B&rft.au=David%2C+MK&rft.au=Feinstein%2C+C&rft.au=Eliez%2C+S&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Horowitz_2005_SCHZ-15"><span class="mw-cite-backlink"><b><a href="#cite_ref-Horowitz_2005_SCHZ_15-0">^</a></b></span> <span class="reference-text"><sup class="noprint Inline-Template noprint Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:No_original_research#Primary,_secondary_and_tertiary_sources" title="Wikipedia:No original research"><span title="This claim needs references to reliable secondary sources. (April 2015)">non-primary source needed</span></a></i>]</sup> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBassettChowAbdelMalikGheorghiu2003" class="citation journal cs1">Bassett AS, Chow EW, AbdelMalik P, Gheorghiu M, Husted J, Weksberg R (2003). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276594">"The schizophrenia phenotype in 22q11 deletion syndrome"</a>. <i>Am J Psychiatry</i>. <b>160</b> (9): 1580–6. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1176%2Fappi.ajp.160.9.1580">10.1176/appi.ajp.160.9.1580</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3276594">3276594</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/12944331">12944331</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Am+J+Psychiatry&rft.atitle=The+schizophrenia+phenotype+in+22q11+deletion+syndrome&rft.volume=160&rft.issue=9&rft.pages=1580-6&rft.date=2003&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC3276594%23id-name%3DPMC&rft_id=info%3Apmid%2F12944331&rft_id=info%3Adoi%2F10.1176%2Fappi.ajp.160.9.1580&rft.aulast=Bassett&rft.aufirst=AS&rft.au=Chow%2C+EW&rft.au=AbdelMalik%2C+P&rft.au=Gheorghiu%2C+M&rft.au=Husted%2C+J&rft.au=Weksberg%2C+R&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC3276594&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Horowitz_2005_survey_SCHZ-16"><span class="mw-cite-backlink"><b><a href="#cite_ref-Horowitz_2005_survey_SCHZ_16-0">^</a></b></span> <span class="reference-text"><sup class="noprint Inline-Template noprint Template-Fact" style="white-space:nowrap;">[<i><a href="/wiki/Wikipedia:No_original_research#Primary,_secondary_and_tertiary_sources" title="Wikipedia:No original research"><span title="This claim needs references to reliable secondary sources. (April 2015)">non-primary source needed</span></a></i>]</sup> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFHorowitzShifmanRivlinPisanté2005" class="citation journal cs1">Horowitz A, Shifman S, Rivlin N, Pisanté A, Darvasi A (2005). "A survey of the 22q11 microdeletion in a large cohort of schizophrenia patients". <i>Schizophr. Res</i>. <b>73</b> (2–3): 263–7. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.schres.2004.02.008">10.1016/j.schres.2004.02.008</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/15653270">15653270</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:40678533">40678533</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Schizophr.+Res.&rft.atitle=A+survey+of+the+22q11+microdeletion+in+a+large+cohort+of+schizophrenia+patients&rft.volume=73&rft.issue=2%E2%80%933&rft.pages=263-7&rft.date=2005&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A40678533%23id-name%3DS2CID&rft_id=info%3Apmid%2F15653270&rft_id=info%3Adoi%2F10.1016%2Fj.schres.2004.02.008&rft.aulast=Horowitz&rft.aufirst=A&rft.au=Shifman%2C+S&rft.au=Rivlin%2C+N&rft.au=Pisant%C3%A9%2C+A&rft.au=Darvasi%2C+A&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Burn_1999_JMedGen-17"><span class="mw-cite-backlink"><b><a href="#cite_ref-Burn_1999_JMedGen_17-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBurn_J1999" class="citation journal cs1">Burn J (October 1999). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734243">"Closing time for CATCH22"</a>. <i>J. Med. Genet</i>. <b>36</b> (10): 737–8. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1136%2Fjmg.36.10.737">10.1136/jmg.36.10.737</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1734243">1734243</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/10528851">10528851</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=J.+Med.+Genet.&rft.atitle=Closing+time+for+CATCH22&rft.volume=36&rft.issue=10&rft.pages=737-8&rft.date=1999-10&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1734243%23id-name%3DPMC&rft_id=info%3Apmid%2F10528851&rft_id=info%3Adoi%2F10.1136%2Fjmg.36.10.737&rft.au=Burn+J&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1734243&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid11715041-18"><span class="mw-cite-backlink">^ <a href="#cite_ref-pmid11715041_18-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-pmid11715041_18-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFLindsay2001" class="citation journal cs1">Lindsay EA (November 2001). "Chromosomal microdeletions: dissecting del22q11 syndrome". <i>Nat. Rev. Genet</i>. <b>2</b> (11): 858–68. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038%2F35098574">10.1038/35098574</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/11715041">11715041</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:21395147">21395147</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Nat.+Rev.+Genet.&rft.atitle=Chromosomal+microdeletions%3A+dissecting+del22q11+syndrome&rft.volume=2&rft.issue=11&rft.pages=858-68&rft.date=2001-11&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A21395147%23id-name%3DS2CID&rft_id=info%3Apmid%2F11715041&rft_id=info%3Adoi%2F10.1038%2F35098574&rft.aulast=Lindsay&rft.aufirst=EA&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid11180220-19"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid11180220_19-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSwillenVogelsDevriendtFryns2000" class="citation journal cs1">Swillen A, Vogels A, Devriendt K, Fryns JP (2000). "Chromosome 22q11 deletion syndrome: update and review of the clinical features, cognitive-behavioral spectrum, and psychiatric complications". <i>Am. J. Med. Genet</i>. <b>97</b> (2): 128–35. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1002%2F1096-8628%28200022%2997%3A2%3C128%3A%3AAID-AJMG4%3E3.0.CO%3B2-Z">10.1002/1096-8628(200022)97:2<128::AID-AJMG4>3.0.CO;2-Z</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/11180220">11180220</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Am.+J.+Med.+Genet.&rft.atitle=Chromosome+22q11+deletion+syndrome%3A+update+and+review+of+the+clinical+features%2C+cognitive-behavioral+spectrum%2C+and+psychiatric+complications&rft.volume=97&rft.issue=2&rft.pages=128-35&rft.date=2000&rft_id=info%3Adoi%2F10.1002%2F1096-8628%28200022%2997%3A2%3C128%3A%3AAID-AJMG4%3E3.0.CO%3B2-Z&rft_id=info%3Apmid%2F11180220&rft.aulast=Swillen&rft.aufirst=A&rft.au=Vogels%2C+A&rft.au=Devriendt%2C+K&rft.au=Fryns%2C+JP&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid25267002-20"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid25267002_20-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMuldoonOusleyKobrynskiPatel2015" class="citation journal cs1">Muldoon M, Ousley OY, Kobrynski LJ, Patel S, Oster ME, Fernandez-Carriba S, Cubells JF, Coleman K, Pearce BD (September 2015). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4379129">"The effect of hypocalcemia in early childhood on autism-related social and communication skills in patients with 22q11 deletion syndrome"</a>. <i>Eur Arch Psychiatry Clin Neurosci</i>. <b>265</b> (6): 519–24. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1007%2Fs00406-014-0546-0">10.1007/s00406-014-0546-0</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4379129">4379129</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/25267002">25267002</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Eur+Arch+Psychiatry+Clin+Neurosci&rft.atitle=The+effect+of+hypocalcemia+in+early+childhood+on+autism-related+social+and+communication+skills+in+patients+with+22q11+deletion+syndrome&rft.volume=265&rft.issue=6&rft.pages=519-24&rft.date=2015-09&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4379129%23id-name%3DPMC&rft_id=info%3Apmid%2F25267002&rft_id=info%3Adoi%2F10.1007%2Fs00406-014-0546-0&rft.aulast=Muldoon&rft.aufirst=M&rft.au=Ousley%2C+OY&rft.au=Kobrynski%2C+LJ&rft.au=Patel%2C+S&rft.au=Oster%2C+ME&rft.au=Fernandez-Carriba%2C+S&rft.au=Cubells%2C+JF&rft.au=Coleman%2C+K&rft.au=Pearce%2C+BD&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4379129&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-21"><span class="mw-cite-backlink"><b><a href="#cite_ref-21">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFZinkstokvan_Amelsvoort2005" class="citation journal cs1">Zinkstok J, van Amelsvoort T (2005). "Neuropsychological profile and neuroimaging in patients with 22Q11.2 Deletion Syndrome: a review". <i>Child Neuropsychol</i>. <b>11</b> (1): 21–37. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1080%2F09297040590911194">10.1080/09297040590911194</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/15823981">15823981</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:13520713">13520713</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Child+Neuropsychol&rft.atitle=Neuropsychological+profile+and+neuroimaging+in+patients+with+22Q11.2+Deletion+Syndrome%3A+a+review&rft.volume=11&rft.issue=1&rft.pages=21-37&rft.date=2005&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A13520713%23id-name%3DS2CID&rft_id=info%3Apmid%2F15823981&rft_id=info%3Adoi%2F10.1080%2F09297040590911194&rft.aulast=Zinkstok&rft.aufirst=J&rft.au=van+Amelsvoort%2C+T&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Butcher_2013-22"><span class="mw-cite-backlink">^ <a href="#cite_ref-Butcher_2013_22-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Butcher_2013_22-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFButcherKiehlHazratiChow2013" class="citation journal cs1">Butcher NJ, Kiehl TR, Hazrati LN, Chow EW, Rogaeva E, Lang AE, Bassett AS (2013). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464823">"Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications"</a>. <i>JAMA Neurol</i>. <b>70</b> (11): 1359–66. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1001%2Fjamaneurol.2013.3646">10.1001/jamaneurol.2013.3646</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4464823">4464823</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/24018986">24018986</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=JAMA+Neurol.&rft.atitle=Association+between+early-onset+Parkinson+disease+and+22q11.2+deletion+syndrome%3A+identification+of+a+novel+genetic+form+of+Parkinson+disease+and+its+clinical+implications.&rft.volume=70&rft.issue=11&rft.pages=1359-66&rft.date=2013&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4464823%23id-name%3DPMC&rft_id=info%3Apmid%2F24018986&rft_id=info%3Adoi%2F10.1001%2Fjamaneurol.2013.3646&rft.aulast=Butcher&rft.aufirst=NJ&rft.au=Kiehl%2C+TR&rft.au=Hazrati%2C+LN&rft.au=Chow%2C+EW&rft.au=Rogaeva%2C+E&rft.au=Lang%2C+AE&rft.au=Bassett%2C+AS&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4464823&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid27017469-23"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid27017469_23-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMokSheerinSimón-SánchezSalaka2016" class="citation journal cs1">Mok KY, Sheerin U, Simón-Sánchez J, Salaka A, Chester L, Escott-Price V, et al. (May 2016). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828586">"Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data"</a>. <i>Lancet Neurol</i>. <b>15</b> (6): 585–96. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2FS1474-4422%2816%2900071-5">10.1016/S1474-4422(16)00071-5</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4828586">4828586</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/27017469">27017469</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Lancet+Neurol&rft.atitle=Deletions+at+22q11.2+in+idiopathic+Parkinson%27s+disease%3A+a+combined+analysis+of+genome-wide+association+data&rft.volume=15&rft.issue=6&rft.pages=585-96&rft.date=2016-05&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4828586%23id-name%3DPMC&rft_id=info%3Apmid%2F27017469&rft_id=info%3Adoi%2F10.1016%2FS1474-4422%2816%2900071-5&rft.aulast=Mok&rft.aufirst=KY&rft.au=Sheerin%2C+U&rft.au=Sim%C3%B3n-S%C3%A1nchez%2C+J&rft.au=Salaka%2C+A&rft.au=Chester%2C+L&rft.au=Escott-Price%2C+V&rft.au=Mantripragada%2C+K&rft.au=Doherty%2C+KM&rft.au=Noyce%2C+AJ&rft.au=Mencacci%2C+NE&rft.au=Lubbe%2C+SJ&rft.au=Williams-Gray%2C+CH&rft.au=Barker%2C+RA&rft.au=van+Dijk%2C+KD&rft.au=Berendse%2C+HW&rft.au=Heutink%2C+P&rft.au=Corvol%2C+JC&rft.au=Cormier%2C+F&rft.au=Lesage%2C+S&rft.au=Brice%2C+A&rft.au=Brockmann%2C+K&rft.au=Schulte%2C+C&rft.au=Gasser%2C+T&rft.au=Foltynie%2C+T&rft.au=Limousin%2C+P&rft.au=Morrison%2C+KE&rft.au=Clarke%2C+CE&rft.au=Sawcer%2C+S&rft.au=Warner%2C+TT&rft.au=Lees%2C+AJ&rft.au=Morris%2C+HR&rft.au=Nalls%2C+MA&rft.au=Singleton%2C+AB&rft.au=Hardy%2C+J&rft.au=Abramov%2C+AY&rft.au=Plagnol%2C+V&rft.au=Williams%2C+NM&rft.au=Wood%2C+NW&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4828586&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Dantonio-24"><span class="mw-cite-backlink">^ <a href="#cite_ref-Dantonio_24-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Dantonio_24-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-Dantonio_24-2"><sup><i><b>c</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFD'AntonioSchererMillerKalbfleisch2001" class="citation journal cs1">D'Antonio LL, Scherer NJ, Miller LL, Kalbfleisch JH, Bartley JA (2001). "Analysis of speech characteristics in children with velocardiofacial syndrome (VCFS) and children with phenotypic overlap without VCFS". <i>Cleft Palate Craniofac. J</i>. <b>38</b> (5): 455–67. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1597%2F1545-1569%282001%29038%3C0455%3AAOSCIC%3E2.0.CO%3B2">10.1597/1545-1569(2001)038<0455:AOSCIC>2.0.CO;2</a>. <a href="/wiki/ISSN_(identifier)" class="mw-redirect" title="ISSN (identifier)">ISSN</a> <a rel="nofollow" class="external text" href="https://search.worldcat.org/issn/1545-1569">1545-1569</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/11522167">11522167</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Cleft+Palate+Craniofac.+J.&rft.atitle=Analysis+of+speech+characteristics+in+children+with+velocardiofacial+syndrome+%28VCFS%29+and+children+with+phenotypic+overlap+without+VCFS&rft.volume=38&rft.issue=5&rft.pages=455-67&rft.date=2001&rft.issn=1545-1569&rft_id=info%3Apmid%2F11522167&rft_id=info%3Adoi%2F10.1597%2F1545-1569%282001%29038%3C0455%3AAOSCIC%3E2.0.CO%3B2&rft.aulast=D%27Antonio&rft.aufirst=LL&rft.au=Scherer%2C+NJ&rft.au=Miller%2C+LL&rft.au=Kalbfleisch%2C+JH&rft.au=Bartley%2C+JA&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Scherer1999-25"><span class="mw-cite-backlink">^ <a href="#cite_ref-Scherer1999_25-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Scherer1999_25-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-Scherer1999_25-2"><sup><i><b>c</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSchererD'AntonioKalbfleisch1999" class="citation journal cs1">Scherer NJ, D'Antonio LL, Kalbfleisch JH (1999). <a rel="nofollow" class="external text" href="https://doi.org/10.1002%2F%28SICI%291096-8628%2819991215%2988%3A6%3C714%3A%3AAID-AJMG24%3E3.0.CO%3B2-B">"Early speech and language development in children with velocardiofacial syndrome"</a>. <i>Am. J. Med. Genet</i>. <b>88</b> (6): 714–23. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1002%2F%28SICI%291096-8628%2819991215%2988%3A6%3C714%3A%3AAID-AJMG24%3E3.0.CO%3B2-B">10.1002/(SICI)1096-8628(19991215)88:6<714::AID-AJMG24>3.0.CO;2-B</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/10581495">10581495</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Am.+J.+Med.+Genet.&rft.atitle=Early+speech+and+language+development+in+children+with+velocardiofacial+syndrome&rft.volume=88&rft.issue=6&rft.pages=714-23&rft.date=1999&rft_id=info%3Adoi%2F10.1002%2F%28SICI%291096-8628%2819991215%2988%3A6%3C714%3A%3AAID-AJMG24%3E3.0.CO%3B2-B&rft_id=info%3Apmid%2F10581495&rft.aulast=Scherer&rft.aufirst=NJ&rft.au=D%27Antonio%2C+LL&rft.au=Kalbfleisch%2C+JH&rft_id=https%3A%2F%2Fdoi.org%2F10.1002%252F%2528SICI%25291096-8628%252819991215%252988%253A6%253C714%253A%253AAID-AJMG24%253E3.0.CO%253B2-B&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Scherer2001-26"><span class="mw-cite-backlink"><b><a href="#cite_ref-Scherer2001_26-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSchererD'AntonioRodgers2001" class="citation journal cs1">Scherer NJ, D'Antonio LL, Rodgers JR (2001). <a rel="nofollow" class="external text" href="https://doi.org/10.1097%2F00125817-200101000-00016">"Profiles of communication disorder in children with velocardiofacial syndrome: comparison to children with Down syndrome"</a>. <i>Genet. Med</i>. <b>3</b> (1): 72–8. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1097%2F00125817-200101000-00016">10.1097/00125817-200101000-00016</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/11339384">11339384</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Genet.+Med.&rft.atitle=Profiles+of+communication+disorder+in+children+with+velocardiofacial+syndrome%3A+comparison+to+children+with+Down+syndrome&rft.volume=3&rft.issue=1&rft.pages=72-8&rft.date=2001&rft_id=info%3Adoi%2F10.1097%2F00125817-200101000-00016&rft_id=info%3Apmid%2F11339384&rft.aulast=Scherer&rft.aufirst=NJ&rft.au=D%27Antonio%2C+LL&rft.au=Rodgers%2C+JR&rft_id=https%3A%2F%2Fdoi.org%2F10.1097%252F00125817-200101000-00016&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Eliez-27"><span class="mw-cite-backlink"><b><a href="#cite_ref-Eliez_27-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFEliezPalacio-EspasaSpira2000" class="citation journal cs1">Eliez S, Palacio-Espasa F, Spira A (2000). "Young children with Velo-Cardio-Facial syndrome (CATCH-22). Psychological and language phenotypes". <i>Eur Child Adolesc Psychiatry</i>. <b>9</b> (2): 109–14. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1007%2Fs007870050005">10.1007/s007870050005</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/10926060">10926060</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:12082383">12082383</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Eur+Child+Adolesc+Psychiatry&rft.atitle=Young+children+with+Velo-Cardio-Facial+syndrome+%28CATCH-22%29.+Psychological+and+language+phenotypes&rft.volume=9&rft.issue=2&rft.pages=109-14&rft.date=2000&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A12082383%23id-name%3DS2CID&rft_id=info%3Apmid%2F10926060&rft_id=info%3Adoi%2F10.1007%2Fs007870050005&rft.aulast=Eliez&rft.aufirst=S&rft.au=Palacio-Espasa%2C+F&rft.au=Spira%2C+A&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Robin-28"><span class="mw-cite-backlink">^ <a href="#cite_ref-Robin_28-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Robin_28-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-Robin_28-2"><sup><i><b>c</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFRobinShprintzen2005" class="citation journal cs1">Robin NH, Shprintzen RJ (2005). "Defining the clinical spectrum of deletion 22q11.2". <i>J. Pediatr</i>. <b>147</b> (1): 90–6. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.jpeds.2005.03.007">10.1016/j.jpeds.2005.03.007</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/16027702">16027702</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=J.+Pediatr.&rft.atitle=Defining+the+clinical+spectrum+of+deletion+22q11.2&rft.volume=147&rft.issue=1&rft.pages=90-6&rft.date=2005&rft_id=info%3Adoi%2F10.1016%2Fj.jpeds.2005.03.007&rft_id=info%3Apmid%2F16027702&rft.aulast=Robin&rft.aufirst=NH&rft.au=Shprintzen%2C+RJ&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Solot-29"><span class="mw-cite-backlink">^ <a href="#cite_ref-Solot_29-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Solot_29-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFSolotKnightlyHandler2000" class="citation journal cs1">Solot CB, Knightly C, Handler SD (2000). "Communication disorders in the 22Q11.2 microdeletion syndrome". <i>J Commun Disord</i>. <b>33</b> (3): 187–203, quiz 203–4. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2FS0021-9924%2800%2900018-6">10.1016/S0021-9924(00)00018-6</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/10907715">10907715</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=J+Commun+Disord&rft.atitle=Communication+disorders+in+the+22Q11.2+microdeletion+syndrome&rft.volume=33&rft.issue=3&rft.pages=187-203%2C+quiz+203-4&rft.date=2000&rft_id=info%3Adoi%2F10.1016%2FS0021-9924%2800%2900018-6&rft_id=info%3Apmid%2F10907715&rft.aulast=Solot&rft.aufirst=CB&rft.au=Knightly%2C+C&rft.au=Handler%2C+SD&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Persson-30"><span class="mw-cite-backlink"><b><a href="#cite_ref-Persson_30-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFPerssonNiklassonOskarsdóttirJohansson2006" class="citation journal cs1">Persson C, Niklasson L, Oskarsdóttir S, Johansson S, Jönsson R, Söderpalm E (2006). "Language skills in 5-8-year-old children with 22q11 deletion syndrome". <i>Int J Lang Commun Disord</i>. <b>41</b> (3): 313–33. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1080%2F13682820500361497">10.1080/13682820500361497</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/16702096">16702096</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Int+J+Lang+Commun+Disord&rft.atitle=Language+skills+in+5-8-year-old+children+with+22q11+deletion+syndrome&rft.volume=41&rft.issue=3&rft.pages=313-33&rft.date=2006&rft_id=info%3Adoi%2F10.1080%2F13682820500361497&rft_id=info%3Apmid%2F16702096&rft.aulast=Persson&rft.aufirst=C&rft.au=Niklasson%2C+L&rft.au=Oskarsd%C3%B3ttir%2C+S&rft.au=Johansson%2C+S&rft.au=J%C3%B6nsson%2C+R&rft.au=S%C3%B6derpalm%2C+E&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-OMIM-31"><span class="mw-cite-backlink">^ <a href="#cite_ref-OMIM_31-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-OMIM_31-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-OMIM_31-2"><sup><i><b>c</b></i></sup></a></span> <span class="reference-text"><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">Online Mendelian Inheritance in Man</a> (OMIM): <a rel="nofollow" class="external text" href="https://omim.org/entry/#188400">#188400</a></span> </li> <li id="cite_note-Packham_2003-32"><span class="mw-cite-backlink">^ <a href="#cite_ref-Packham_2003_32-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Packham_2003_32-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFPackhamBrook2003" class="citation journal cs1 cs1-prop-long-vol">Packham EA, Brook JD (April 2003). <a rel="nofollow" class="external text" href="https://doi.org/10.1093%2Fhmg%2Fddg077">"T-box genes in human disorders"</a>. <i>Hum. Mol. Genet</i>. 12 Spec No 1 (90001): R37–44. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1093%2Fhmg%2Fddg077">10.1093/hmg/ddg077</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/12668595">12668595</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Hum.+Mol.+Genet.&rft.atitle=T-box+genes+in+human+disorders&rft.volume=12+Spec+No+1&rft.issue=90001&rft.pages=R37-44&rft.date=2003-04&rft_id=info%3Adoi%2F10.1093%2Fhmg%2Fddg077&rft_id=info%3Apmid%2F12668595&rft.aulast=Packham&rft.aufirst=EA&rft.au=Brook%2C+JD&rft_id=https%3A%2F%2Fdoi.org%2F10.1093%252Fhmg%252Fddg077&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Tang_2015-33"><span class="mw-cite-backlink"><b><a href="#cite_ref-Tang_2015_33-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFTangAntshelFremontKates2015" class="citation journal cs1">Tang KL, Antshel KM, Fremont WP, Kates WR (October 2015). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4586411">"Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome"</a>. <i>J Dev Behav Pediatr</i>. <b>36</b> (8): 639–50. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1097%2FDBP.0000000000000210">10.1097/DBP.0000000000000210</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4586411">4586411</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/26372046">26372046</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=J+Dev+Behav+Pediatr&rft.atitle=Behavioral+and+Psychiatric+Phenotypes+in+22q11.2+Deletion+Syndrome&rft.volume=36&rft.issue=8&rft.pages=639-50&rft.date=2015-10&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4586411%23id-name%3DPMC&rft_id=info%3Apmid%2F26372046&rft_id=info%3Adoi%2F10.1097%2FDBP.0000000000000210&rft.aulast=Tang&rft.aufirst=KL&rft.au=Antshel%2C+KM&rft.au=Fremont%2C+WP&rft.au=Kates%2C+WR&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4586411&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid18775783-34"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid18775783_34-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMaynardMeechanDudevoirGopalakrishna2008" class="citation journal cs1">Maynard TM, Meechan DW, Dudevoir ML, Gopalakrishna D, Peters AZ, Heindel CC, Sugimoto TJ, Wu Y, Lieberman JA, Lamantia AS (November 2008). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2729512">"Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes"</a>. <i>Mol. Cell. Neurosci</i>. <b>39</b> (3): 439–51. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.mcn.2008.07.027">10.1016/j.mcn.2008.07.027</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2729512">2729512</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/18775783">18775783</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Mol.+Cell.+Neurosci.&rft.atitle=Mitochondrial+localization+and+function+of+a+subset+of+22q11+deletion+syndrome+candidate+genes&rft.volume=39&rft.issue=3&rft.pages=439-51&rft.date=2008-11&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2729512%23id-name%3DPMC&rft_id=info%3Apmid%2F18775783&rft_id=info%3Adoi%2F10.1016%2Fj.mcn.2008.07.027&rft.aulast=Maynard&rft.aufirst=TM&rft.au=Meechan%2C+DW&rft.au=Dudevoir%2C+ML&rft.au=Gopalakrishna%2C+D&rft.au=Peters%2C+AZ&rft.au=Heindel%2C+CC&rft.au=Sugimoto%2C+TJ&rft.au=Wu%2C+Y&rft.au=Lieberman%2C+JA&rft.au=Lamantia%2C+AS&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2729512&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Bartsch_2003-35"><span class="mw-cite-backlink">^ <a href="#cite_ref-Bartsch_2003_35-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Bartsch_2003_35-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBartschNemeckováKocárekWagner2003" class="citation journal cs1">Bartsch O, Nemecková M, Kocárek E, Wagner A, Puchmajerová A, Poppe M, Ounap K, Goetz P (February 2003). "DiGeorge/velocardiofacial syndrome: FISH studies of chromosomes 22q11 and 10p14, and clinical reports on the proximal 22q11 deletion". <i>Am. J. Med. Genet. A</i>. <b>117A</b> (1): 1–5. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1002%2Fajmg.a.10914">10.1002/ajmg.a.10914</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/12548732">12548732</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:35570263">35570263</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Am.+J.+Med.+Genet.+A&rft.atitle=DiGeorge%2Fvelocardiofacial+syndrome%3A+FISH+studies+of+chromosomes+22q11+and+10p14%2C+and+clinical+reports+on+the+proximal+22q11+deletion&rft.volume=117A&rft.issue=1&rft.pages=1-5&rft.date=2003-02&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A35570263%23id-name%3DS2CID&rft_id=info%3Apmid%2F12548732&rft_id=info%3Adoi%2F10.1002%2Fajmg.a.10914&rft.aulast=Bartsch&rft.aufirst=O&rft.au=Nemeckov%C3%A1%2C+M&rft.au=Koc%C3%A1rek%2C+E&rft.au=Wagner%2C+A&rft.au=Puchmajerov%C3%A1%2C+A&rft.au=Poppe%2C+M&rft.au=Ounap%2C+K&rft.au=Goetz%2C+P&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid26508576-36"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid26508576_36-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFPoirsierBesseau-AyasseSchluth-BolardToutain2016" class="citation journal cs1">Poirsier C, Besseau-Ayasse J, Schluth-Bolard C, Toutain J, Missirian C, Le Caignec C, et al. (June 2016). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867458">"A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH"</a>. <i>Eur. J. Hum. Genet</i>. <b>24</b> (6): 844–51. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038%2Fejhg.2015.219">10.1038/ejhg.2015.219</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4867458">4867458</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/26508576">26508576</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Eur.+J.+Hum.+Genet.&rft.atitle=A+French+multicenter+study+of+over+700+patients+with+22q11+deletions+diagnosed+using+FISH+or+aCGH&rft.volume=24&rft.issue=6&rft.pages=844-51&rft.date=2016-06&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4867458%23id-name%3DPMC&rft_id=info%3Apmid%2F26508576&rft_id=info%3Adoi%2F10.1038%2Fejhg.2015.219&rft.aulast=Poirsier&rft.aufirst=C&rft.au=Besseau-Ayasse%2C+J&rft.au=Schluth-Bolard%2C+C&rft.au=Toutain%2C+J&rft.au=Missirian%2C+C&rft.au=Le+Caignec%2C+C&rft.au=Bazin%2C+A&rft.au=de+Blois%2C+MC&rft.au=Kuentz%2C+P&rft.au=Catty%2C+M&rft.au=Choiset%2C+A&rft.au=Plessis%2C+G&rft.au=Basinko%2C+A&rft.au=Letard%2C+P&rft.au=Flori%2C+E&rft.au=Jimenez%2C+M&rft.au=Valduga%2C+M&rft.au=Landais%2C+E&rft.au=Lallaoui%2C+H&rft.au=Cartault%2C+F&rft.au=Lespinasse%2C+J&rft.au=Martin-Coignard%2C+D&rft.au=Callier%2C+P&rft.au=Pebrel-Richard%2C+C&rft.au=Portnoi%2C+MF&rft.au=Busa%2C+T&rft.au=Receveur%2C+A&rft.au=Amblard%2C+F&rft.au=Yardin%2C+C&rft.au=Harbuz%2C+R&rft.au=Prieur%2C+F&rft.au=Le+Meur%2C+N&rft.au=Pipiras%2C+E&rft.au=Kleinfinger%2C+P&rft.au=Vialard%2C+F&rft.au=Doco-Fenzy%2C+M&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4867458&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-37"><span class="mw-cite-backlink"><b><a href="#cite_ref-37">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFEdelmannPanditaSpiteriFunke1999" class="citation journal cs1">Edelmann L, Pandita RK, Spiteri E, Funke B, Goldberg R, Palanisamy N, Chaganti RS, Magenis E, Shprintzen RJ, Morrow BE (1999). "A common molecular basis for rearrangement disorders on chromosome 22q11". <i>Hum Mol Genet</i>. <b>8</b> (7): 1157–67. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1093%2Fhmg%2F8.7.1157">10.1093/hmg/8.7.1157</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/10369860">10369860</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Hum+Mol+Genet&rft.atitle=A+common+molecular+basis+for+rearrangement+disorders+on+chromosome+22q11.&rft.volume=8&rft.issue=7&rft.pages=1157-67&rft.date=1999&rft_id=info%3Adoi%2F10.1093%2Fhmg%2F8.7.1157&rft_id=info%3Apmid%2F10369860&rft.aulast=Edelmann&rft.aufirst=L&rft.au=Pandita%2C+RK&rft.au=Spiteri%2C+E&rft.au=Funke%2C+B&rft.au=Goldberg%2C+R&rft.au=Palanisamy%2C+N&rft.au=Chaganti%2C+RS&rft.au=Magenis%2C+E&rft.au=Shprintzen%2C+RJ&rft.au=Morrow%2C+BE&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid11242110-38"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid11242110_38-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFJeromePapaioannou2001" class="citation journal cs1">Jerome LA, Papaioannou VE (March 2001). "DiGeorge syndrome phenotype in mice mutant for the T-box gene, Tbx1". <i>Nat. Genet</i>. <b>27</b> (3): 286–91. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038%2F85845">10.1038/85845</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/11242110">11242110</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:21030663">21030663</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Nat.+Genet.&rft.atitle=DiGeorge+syndrome+phenotype+in+mice+mutant+for+the+T-box+gene%2C+Tbx1&rft.volume=27&rft.issue=3&rft.pages=286-91&rft.date=2001-03&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A21030663%23id-name%3DS2CID&rft_id=info%3Apmid%2F11242110&rft_id=info%3Adoi%2F10.1038%2F85845&rft.aulast=Jerome&rft.aufirst=LA&rft.au=Papaioannou%2C+VE&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid11242049-39"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid11242049_39-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFLindsayVitelliSuMorishima2001" class="citation journal cs1">Lindsay EA, Vitelli F, Su H, Morishima M, Huynh T, Pramparo T, Jurecic V, Ogunrinu G, Sutherland HF, Scambler PJ, Bradley A, Baldini A (March 2001). "Tbx1 haploinsufficieny in the DiGeorge syndrome region causes aortic arch defects in mice". <i>Nature</i>. <b>410</b> (6824): 97–101. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038%2F35065105">10.1038/35065105</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/11242049">11242049</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:41144744">41144744</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Nature&rft.atitle=Tbx1+haploinsufficieny+in+the+DiGeorge+syndrome+region+causes+aortic+arch+defects+in+mice&rft.volume=410&rft.issue=6824&rft.pages=97-101&rft.date=2001-03&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A41144744%23id-name%3DS2CID&rft_id=info%3Apmid%2F11242049&rft_id=info%3Adoi%2F10.1038%2F35065105&rft.aulast=Lindsay&rft.aufirst=EA&rft.au=Vitelli%2C+F&rft.au=Su%2C+H&rft.au=Morishima%2C+M&rft.au=Huynh%2C+T&rft.au=Pramparo%2C+T&rft.au=Jurecic%2C+V&rft.au=Ogunrinu%2C+G&rft.au=Sutherland%2C+HF&rft.au=Scambler%2C+PJ&rft.au=Bradley%2C+A&rft.au=Baldini%2C+A&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid27892953-40"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid27892953_40-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFChunDuWestmorelandHan2017" class="citation journal cs1">Chun S, Du F, Westmoreland JJ, Han SB, Wang YD, Eddins D, et al. (January 2017). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5218899">"Thalamic miR-338-3p mediates auditory thalamocortical disruption and its late onset in models of 22q11.2 microdeletion"</a>. <i>Nat. Med</i>. <b>23</b> (1): 39–48. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038%2Fnm.4240">10.1038/nm.4240</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC5218899">5218899</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/27892953">27892953</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Nat.+Med.&rft.atitle=Thalamic+miR-338-3p+mediates+auditory+thalamocortical+disruption+and+its+late+onset+in+models+of+22q11.2+microdeletion&rft.volume=23&rft.issue=1&rft.pages=39-48&rft.date=2017-01&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC5218899%23id-name%3DPMC&rft_id=info%3Apmid%2F27892953&rft_id=info%3Adoi%2F10.1038%2Fnm.4240&rft.aulast=Chun&rft.aufirst=S&rft.au=Du%2C+F&rft.au=Westmoreland%2C+JJ&rft.au=Han%2C+SB&rft.au=Wang%2C+YD&rft.au=Eddins%2C+D&rft.au=Bayazitov%2C+IT&rft.au=Devaraju%2C+P&rft.au=Yu%2C+J&rft.au=Mellado+Lagarde%2C+MM&rft.au=Anderson%2C+K&rft.au=Zakharenko%2C+SS&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC5218899&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-autogenerated1-41"><span class="mw-cite-backlink"><b><a href="#cite_ref-autogenerated1_41-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/gene/128989">"TANGO2 transport and golgi organization 2 homolog [Homo sapiens (human)] - Gene - NCBI"</a>. <i>www.ncbi.nlm.nih.gov</i>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=www.ncbi.nlm.nih.gov&rft.atitle=TANGO2+transport+and+golgi+organization+2+homolog+%5BHomo+sapiens+%28human%29%5D+-+Gene+-+NCBI&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fgene%2F128989&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Kremer_2016-42"><span class="mw-cite-backlink">^ <a href="#cite_ref-Kremer_2016_42-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Kremer_2016_42-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFKremerDistelmaierAlhaddadHempel2016" class="citation journal cs1">Kremer LS, Distelmaier F, Alhaddad B, Hempel M, Iuso A, Küpper C, et al. (2016). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746337">"Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy"</a>. <i>American Journal of Human Genetics</i>. <b>98</b> (2): 358–62. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.ajhg.2015.12.009">10.1016/j.ajhg.2015.12.009</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746337">4746337</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/26805782">26805782</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=American+Journal+of+Human+Genetics&rft.atitle=Bi-allelic+Truncating+Mutations+in+TANGO2+Cause+Infancy-Onset+Recurrent+Metabolic+Crises+with+Encephalocardiomyopathy&rft.volume=98&rft.issue=2&rft.pages=358-62&rft.date=2016&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4746337%23id-name%3DPMC&rft_id=info%3Apmid%2F26805782&rft_id=info%3Adoi%2F10.1016%2Fj.ajhg.2015.12.009&rft.aulast=Kremer&rft.aufirst=LS&rft.au=Distelmaier%2C+F&rft.au=Alhaddad%2C+B&rft.au=Hempel%2C+M&rft.au=Iuso%2C+A&rft.au=K%C3%BCpper%2C+C&rft.au=M%C3%BChlhausen%2C+C&rft.au=Kovacs-Nagy%2C+R&rft.au=Satanovskij%2C+R&rft.au=Graf%2C+E&rft.au=Berutti%2C+R&rft.au=Eckstein%2C+G&rft.au=Durbin%2C+R&rft.au=Sauer%2C+S&rft.au=Hoffmann%2C+GF&rft.au=Strom%2C+TM&rft.au=Santer%2C+R&rft.au=Meitinger%2C+T&rft.au=Klopstock%2C+T&rft.au=Prokisch%2C+H&rft.au=Haack%2C+TB&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4746337&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Lalani_2016-43"><span class="mw-cite-backlink">^ <a href="#cite_ref-Lalani_2016_43-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Lalani_2016_43-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFLalaniLiuRosenfeldWatkin2016" class="citation journal cs1">Lalani SR, Liu P, Rosenfeld JA, Watkin LB, Chiang T, Leduc MS, et al. (2016). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746334">"Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations"</a>. <i>American Journal of Human Genetics</i>. <b>98</b> (2): 347–57. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.ajhg.2015.12.008">10.1016/j.ajhg.2015.12.008</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4746334">4746334</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/26805781">26805781</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=American+Journal+of+Human+Genetics&rft.atitle=Recurrent+Muscle+Weakness+with+Rhabdomyolysis%2C+Metabolic+Crises%2C+and+Cardiac+Arrhythmia+Due+to+Bi-allelic+TANGO2+Mutations&rft.volume=98&rft.issue=2&rft.pages=347-57&rft.date=2016&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4746334%23id-name%3DPMC&rft_id=info%3Apmid%2F26805781&rft_id=info%3Adoi%2F10.1016%2Fj.ajhg.2015.12.008&rft.aulast=Lalani&rft.aufirst=SR&rft.au=Liu%2C+P&rft.au=Rosenfeld%2C+JA&rft.au=Watkin%2C+LB&rft.au=Chiang%2C+T&rft.au=Leduc%2C+MS&rft.au=Zhu%2C+W&rft.au=Ding%2C+Y&rft.au=Pan%2C+S&rft.au=Vetrini%2C+F&rft.au=Miyake%2C+CY&rft.au=Shinawi%2C+M&rft.au=Gambin%2C+T&rft.au=Eldomery%2C+MK&rft.au=Akdemir%2C+ZH&rft.au=Emrick%2C+L&rft.au=Wilnai%2C+Y&rft.au=Schelley%2C+S&rft.au=Koenig%2C+MK&rft.au=Memon%2C+N&rft.au=Farach%2C+LS&rft.au=Coe%2C+BP&rft.au=Azamian%2C+M&rft.au=Hernandez%2C+P&rft.au=Zapata%2C+G&rft.au=Jhangiani%2C+SN&rft.au=Muzny%2C+DM&rft.au=Lotze%2C+T&rft.au=Clark%2C+G&rft.au=Wilfong%2C+A&rft.au=Northrup%2C+H&rft.au=Adesina%2C+A&rft.au=Bacino%2C+CA&rft.au=Scaglia%2C+F&rft.au=Bonnen%2C+PE&rft.au=Crosson%2C+J&rft.au=Duis%2C+J&rft.au=Maegawa%2C+GH&rft.au=Coman%2C+D&rft.au=Inwood%2C+A&rft.au=McGill%2C+J&rft.au=Boerwinkle%2C+E&rft.au=Graham%2C+B&rft.au=Beaudet%2C+A&rft.au=Eng%2C+CM&rft.au=Hanchard%2C+NA&rft.au=Xia%2C+F&rft.au=Orange%2C+JS&rft.au=Gibbs%2C+RA&rft.au=Lupski%2C+JR&rft.au=Yang%2C+Y&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4746334&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid18053182-44"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid18053182_44-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFTonelliKosuriWeiChick2007" class="citation journal cs1">Tonelli AR, Kosuri K, Wei S, Chick D (2007). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222674">"Seizures as the first manifestation of chromosome 22q11.2 deletion syndrome in a 40-year old man: a case report"</a>. <i>J Med Case Rep</i>. <b>1</b>: 167. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1186%2F1752-1947-1-167">10.1186/1752-1947-1-167</a></span>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2222674">2222674</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/18053182">18053182</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=J+Med+Case+Rep&rft.atitle=Seizures+as+the+first+manifestation+of+chromosome+22q11.2+deletion+syndrome+in+a+40-year+old+man%3A+a+case+report&rft.volume=1&rft.pages=167&rft.date=2007&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2222674%23id-name%3DPMC&rft_id=info%3Apmid%2F18053182&rft_id=info%3Adoi%2F10.1186%2F1752-1947-1-167&rft.aulast=Tonelli&rft.aufirst=AR&rft.au=Kosuri%2C+K&rft.au=Wei%2C+S&rft.au=Chick%2C+D&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2222674&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-45"><span class="mw-cite-backlink"><b><a href="#cite_ref-45">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMiller,_Kimberley_A.2008" class="citation journal cs1">Miller, Kimberley A. (2008). "FISH Diagnosis of 22q11.2 Deletion Syndrome". <i>Newborn and Infant Nursing Reviews</i>. <b>8</b> (1): e11–e19. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1053%2Fj.nainr.2007.12.006">10.1053/j.nainr.2007.12.006</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Newborn+and+Infant+Nursing+Reviews&rft.atitle=FISH+Diagnosis+of+22q11.2+Deletion+Syndrome&rft.volume=8&rft.issue=1&rft.pages=e11-e19&rft.date=2008&rft_id=info%3Adoi%2F10.1053%2Fj.nainr.2007.12.006&rft.au=Miller%2C+Kimberley+A.&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid18033723-46"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid18033723_46-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFJalaliVorstmanErramiVijzelaar2008" class="citation journal cs1">Jalali GR, Vorstman JA, Errami A, Vijzelaar R, Biegel J, Shaikh T, Emanuel BS (March 2008). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2664158">"Detailed analysis of 22q11.2 with a high density MLPA probe set"</a>. <i>Hum. Mutat</i>. <b>29</b> (3): 433–40. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1002%2Fhumu.20640">10.1002/humu.20640</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC2664158">2664158</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/18033723">18033723</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Hum.+Mutat.&rft.atitle=Detailed+analysis+of+22q11.2+with+a+high+density+MLPA+probe+set&rft.volume=29&rft.issue=3&rft.pages=433-40&rft.date=2008-03&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2664158%23id-name%3DPMC&rft_id=info%3Apmid%2F18033723&rft_id=info%3Adoi%2F10.1002%2Fhumu.20640&rft.aulast=Jalali&rft.aufirst=GR&rft.au=Vorstman%2C+JA&rft.au=Errami%2C+A&rft.au=Vijzelaar%2C+R&rft.au=Biegel%2C+J&rft.au=Shaikh%2C+T&rft.au=Emanuel%2C+BS&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC2664158&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid24795887-47"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid24795887_47-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFGarcía-HerreroCampos-GalindoMartínez-ConejeroSerra2014" class="citation journal cs1">García-Herrero S, Campos-Galindo I, Martínez-Conejero JA, Serra V, Olmo I, Lara C, Simón C, Rubio C (2014). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3985206">"BACs-on-Beads technology: a reliable test for rapid detection of aneuploidies and microdeletions in prenatal diagnosis"</a>. <i>Biomed Res Int</i>. <b>2014</b>: 590298. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1155%2F2014%2F590298">10.1155/2014/590298</a></span>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3985206">3985206</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/24795887">24795887</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Biomed+Res+Int&rft.atitle=BACs-on-Beads+technology%3A+a+reliable+test+for+rapid+detection+of+aneuploidies+and+microdeletions+in+prenatal+diagnosis&rft.volume=2014&rft.pages=590298&rft.date=2014&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC3985206%23id-name%3DPMC&rft_id=info%3Apmid%2F24795887&rft_id=info%3Adoi%2F10.1155%2F2014%2F590298&rft.aulast=Garc%C3%ADa-Herrero&rft.aufirst=S&rft.au=Campos-Galindo%2C+I&rft.au=Mart%C3%ADnez-Conejero%2C+JA&rft.au=Serra%2C+V&rft.au=Olmo%2C+I&rft.au=Lara%2C+C&rft.au=Sim%C3%B3n%2C+C&rft.au=Rubio%2C+C&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC3985206&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid24893808-48"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid24893808_48-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFChoyKwokChengWong2014" class="citation journal cs1">Choy KW, Kwok YK, Cheng YK, Wong KM, Wong HK, Leung KO, Suen KW, Adler K, Wang CC, Lau TK, Schermer MJ, Lao TT, Leung TY (September 2014). "Diagnostic accuracy of the BACs-on-Beads™ assay versus karyotyping for prenatal detection of chromosomal abnormalities: a retrospective consecutive case series". <i>BJOG</i>. <b>121</b> (10): 1245–52. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1111%2F1471-0528.12873">10.1111/1471-0528.12873</a>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/24893808">24893808</a>. <a href="/wiki/S2CID_(identifier)" class="mw-redirect" title="S2CID (identifier)">S2CID</a> <a rel="nofollow" class="external text" href="https://api.semanticscholar.org/CorpusID:206905761">206905761</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=BJOG&rft.atitle=Diagnostic+accuracy+of+the+BACs-on-Beads%E2%84%A2+assay+versus+karyotyping+for+prenatal+detection+of+chromosomal+abnormalities%3A+a+retrospective+consecutive+case+series&rft.volume=121&rft.issue=10&rft.pages=1245-52&rft.date=2014-09&rft_id=https%3A%2F%2Fapi.semanticscholar.org%2FCorpusID%3A206905761%23id-name%3DS2CID&rft_id=info%3Apmid%2F24893808&rft_id=info%3Adoi%2F10.1111%2F1471-0528.12873&rft.aulast=Choy&rft.aufirst=KW&rft.au=Kwok%2C+YK&rft.au=Cheng%2C+YK&rft.au=Wong%2C+KM&rft.au=Wong%2C+HK&rft.au=Leung%2C+KO&rft.au=Suen%2C+KW&rft.au=Adler%2C+K&rft.au=Wang%2C+CC&rft.au=Lau%2C+TK&rft.au=Schermer%2C+MJ&rft.au=Lao%2C+TT&rft.au=Leung%2C+TY&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid21549014-49"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid21549014_49-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFParkJungRyuKang2011" class="citation journal cs1">Park SJ, Jung EH, Ryu RS, Kang HW, Ko JM, Kim HJ, Cheon CK, Hwang SH, Kang HY (May 2011). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3114015">"Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases"</a>. <i>Mol Cytogenet</i>. <b>4</b>: 12. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://doi.org/10.1186%2F1755-8166-4-12">10.1186/1755-8166-4-12</a></span>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3114015">3114015</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/21549014">21549014</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Mol+Cytogenet&rft.atitle=Clinical+implementation+of+whole-genome+array+CGH+as+a+first-tier+test+in+5080+pre+and+postnatal+cases&rft.volume=4&rft.pages=12&rft.date=2011-05&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC3114015%23id-name%3DPMC&rft_id=info%3Apmid%2F21549014&rft_id=info%3Adoi%2F10.1186%2F1755-8166-4-12&rft.aulast=Park&rft.aufirst=SJ&rft.au=Jung%2C+EH&rft.au=Ryu%2C+RS&rft.au=Kang%2C+HW&rft.au=Ko%2C+JM&rft.au=Kim%2C+HJ&rft.au=Cheon%2C+CK&rft.au=Hwang%2C+SH&rft.au=Kang%2C+HY&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC3114015&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-50"><span class="mw-cite-backlink"><b><a href="#cite_ref-50">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMupanemunda,_Richard_H.Watkinson,_Michael2004" class="citation book cs1">Mupanemunda, Richard H.; Watkinson, Michael (2004). <i>Key Topics in Neonatology</i>. CRC Press. p. 82. <a href="/wiki/ISBN_(identifier)" class="mw-redirect" title="ISBN (identifier)">ISBN</a> <a href="/wiki/Special:BookSources/9781859962343" title="Special:BookSources/9781859962343"><bdi>9781859962343</bdi></a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=book&rft.btitle=Key+Topics+in+Neonatology&rft.pages=82&rft.pub=CRC+Press&rft.date=2004&rft.isbn=9781859962343&rft.au=Mupanemunda%2C+Richard+H.&rft.au=Watkinson%2C+Michael&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-51"><span class="mw-cite-backlink"><b><a href="#cite_ref-51">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/diagnosis-treatment/drc-20353548">"DiGeorge syndrome (22q11.2 deletion syndrome)"</a>. Mayo Clinic<span class="reference-accessdate">. Retrieved <span class="nowrap">22 May</span> 2020</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=unknown&rft.btitle=DiGeorge+syndrome+%2822q11.2+deletion+syndrome%29&rft.pub=Mayo+Clinic&rft_id=https%3A%2F%2Fwww.mayoclinic.org%2Fdiseases-conditions%2Fdigeorge-syndrome%2Fdiagnosis-treatment%2Fdrc-20353548&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-52"><span class="mw-cite-backlink"><b><a href="#cite_ref-52">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="https://www.uptodate.com/contents/digeorge-22q11-2-deletion-syndrome-management-and-prognosis#H12685874">"DiGeorge (22q11.2 deletion) syndrome: Management and prognosis"</a>. <i>www.uptodate.com</i><span class="reference-accessdate">. Retrieved <span class="nowrap">2018-10-30</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=www.uptodate.com&rft.atitle=DiGeorge+%2822q11.2+deletion%29+syndrome%3A+Management+and+prognosis&rft_id=https%3A%2F%2Fwww.uptodate.com%2Fcontents%2Fdigeorge-22q11-2-deletion-syndrome-management-and-prognosis%23H12685874&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid17284531-53"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid17284531_53-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMarkertDevlinAlexieffLi2007" class="citation journal cs1">Markert ML, Devlin BH, Alexieff MJ, Li J, McCarthy EA, Gupton SE, et al. (May 2007). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1885498">"Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants"</a>. <i>Blood</i>. <b>109</b> (10): 4539–47. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1182%2Fblood-2006-10-048652">10.1182/blood-2006-10-048652</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1885498">1885498</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/17284531">17284531</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Blood&rft.atitle=Review+of+54+patients+with+complete+DiGeorge+anomaly+enrolled+in+protocols+for+thymus+transplantation%3A+outcome+of+44+consecutive+transplants&rft.volume=109&rft.issue=10&rft.pages=4539-47&rft.date=2007-05&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1885498%23id-name%3DPMC&rft_id=info%3Apmid%2F17284531&rft_id=info%3Adoi%2F10.1182%2Fblood-2006-10-048652&rft.aulast=Markert&rft.aufirst=ML&rft.au=Devlin%2C+BH&rft.au=Alexieff%2C+MJ&rft.au=Li%2C+J&rft.au=McCarthy%2C+EA&rft.au=Gupton%2C+SE&rft.au=Chinn%2C+IK&rft.au=Hale%2C+LP&rft.au=Kepler%2C+TB&rft.au=He%2C+M&rft.au=Sarzotti%2C+M&rft.au=Skinner%2C+MA&rft.au=Rice%2C+HE&rft.au=Hoehner%2C+JC&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1885498&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-54"><span class="mw-cite-backlink"><b><a href="#cite_ref-54">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="http://www.sickkids.ca/CGenetics/What-we-do/22q-deletion-syndrome-clinic/About-our-clinic/index.html">"Clinical and Metabolic Genetics- The 22q Deletion Clinic"</a>. <i>The Hospital for Sick Children</i>. <a rel="nofollow" class="external text" href="https://web.archive.org/web/20160407204522/http://www.sickkids.ca/CGenetics/What-we-do/22q-deletion-syndrome-clinic/About-our-clinic/index.html">Archived</a> from the original on 2016-04-07.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=The+Hospital+for+Sick+Children&rft.atitle=Clinical+and+Metabolic+Genetics-+The+22q+Deletion+Clinic&rft_id=http%3A%2F%2Fwww.sickkids.ca%2FCGenetics%2FWhat-we-do%2F22q-deletion-syndrome-clinic%2FAbout-our-clinic%2Findex.html&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-55"><span class="mw-cite-backlink"><b><a href="#cite_ref-55">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation news cs1"><a rel="nofollow" class="external text" href="https://www.washingtonpost.com/health/teenage-psychosis-genetic-condition/2021/04/30/65133794-6be5-11eb-9ead-673168d5b874_story.html">"Doctors said the boy was suffering from teenage psychosis. What he really had was a rare genetic condition"</a>. <i>The Washington Post</i>. 30 April 2021.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=The+Washington+Post&rft.atitle=Doctors+said+the+boy+was+suffering+from+teenage+psychosis.+What+he+really+had+was+a+rare+genetic+condition.&rft.date=2021-04-30&rft_id=https%3A%2F%2Fwww.washingtonpost.com%2Fhealth%2Fteenage-psychosis-genetic-condition%2F2021%2F04%2F30%2F65133794-6be5-11eb-9ead-673168d5b874_story.html&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid25569435-56"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid25569435_56-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFFungButcherCostainAndrade2015" class="citation journal cs1">Fung WL, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EW, et al. (August 2015). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526275">"Practical guidelines for managing adults with 22q11.2 deletion syndrome"</a>. <i>Genet. Med</i>. <b>17</b> (8): 599–609. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1038%2Fgim.2014.175">10.1038/gim.2014.175</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC4526275">4526275</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/25569435">25569435</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Genet.+Med.&rft.atitle=Practical+guidelines+for+managing+adults+with+22q11.2+deletion+syndrome&rft.volume=17&rft.issue=8&rft.pages=599-609&rft.date=2015-08&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4526275%23id-name%3DPMC&rft_id=info%3Apmid%2F25569435&rft_id=info%3Adoi%2F10.1038%2Fgim.2014.175&rft.aulast=Fung&rft.aufirst=WL&rft.au=Butcher%2C+NJ&rft.au=Costain%2C+G&rft.au=Andrade%2C+DM&rft.au=Boot%2C+E&rft.au=Chow%2C+EW&rft.au=Chung%2C+B&rft.au=Cytrynbaum%2C+C&rft.au=Faghfoury%2C+H&rft.au=Fishman%2C+L&rft.au=Garc%C3%ADa-Mi%C3%B1a%C3%BAr%2C+S&rft.au=George%2C+S&rft.au=Lang%2C+AE&rft.au=Repetto%2C+G&rft.au=Shugar%2C+A&rft.au=Silversides%2C+C&rft.au=Swillen%2C+A&rft.au=van+Amelsvoort%2C+T&rft.au=McDonald-McGinn%2C+DM&rft.au=Bassett%2C+AS&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC4526275&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid14736631-57"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid14736631_57-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFOskarsdóttirVujicFasth2004" class="citation journal cs1">Oskarsdóttir S, Vujic M, Fasth A (2004). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1719787">"Incidence and prevalence of the 22q11 deletion syndrome: a population-based study in Western Sweden"</a>. <i>Arch. Dis. Child</i>. <b>89</b> (2): 148–51. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1136%2Fadc.2003.026880">10.1136/adc.2003.026880</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC1719787">1719787</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/14736631">14736631</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Arch.+Dis.+Child.&rft.atitle=Incidence+and+prevalence+of+the+22q11+deletion+syndrome%3A+a+population-based+study+in+Western+Sweden&rft.volume=89&rft.issue=2&rft.pages=148-51&rft.date=2004&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1719787%23id-name%3DPMC&rft_id=info%3Apmid%2F14736631&rft_id=info%3Adoi%2F10.1136%2Fadc.2003.026880&rft.aulast=Oskarsd%C3%B3ttir&rft.aufirst=S&rft.au=Vujic%2C+M&rft.au=Fasth%2C+A&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC1719787&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid10706158-58"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid10706158_58-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFDailyArdingerHolmes2000" class="citation journal cs1">Daily DK, Ardinger HH, Holmes GE (February 2000). "Identification and evaluation of mental retardation". <i>Am Fam Physician</i>. <b>61</b> (4): 1059–67, 1070. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/10706158">10706158</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=Am+Fam+Physician&rft.atitle=Identification+and+evaluation+of+mental+retardation&rft.volume=61&rft.issue=4&rft.pages=1059-67%2C+1070&rft.date=2000-02&rft_id=info%3Apmid%2F10706158&rft.aulast=Daily&rft.aufirst=DK&rft.au=Ardinger%2C+HH&rft.au=Holmes%2C+GE&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-59"><span class="mw-cite-backlink"><b><a href="#cite_ref-59">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="http://22q.ca/medicalprofessionals/the-genetics-of-22q112ds/#demographics">"The Genetics of 22q11.2 DS: Demographics"</a>. <i>Information for Medical Professionals</i>. The Dalglish Family Hearts and Minds Clinic for Adults with 22q11.2 Deletion Syndrome. <a rel="nofollow" class="external text" href="https://web.archive.org/web/20160309104617/http://22q.ca/medicalprofessionals/the-genetics-of-22q112ds/#demographics">Archived</a> from the original on 9 March 2016<span class="reference-accessdate">. Retrieved <span class="nowrap">26 August</span> 2015</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=Information+for+Medical+Professionals&rft.atitle=The+Genetics+of+22q11.2+DS%3A+Demographics&rft_id=http%3A%2F%2F22q.ca%2Fmedicalprofessionals%2Fthe-genetics-of-22q112ds%2F%23demographics&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-60"><span class="mw-cite-backlink"><b><a href="#cite_ref-60">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="http://www.icd10data.com/ICD10CM/Codes/D50-D89/D80-D89/D82-/D82.1">"Di George's syndrome"</a>. <i>icd10data.com</i>. 2015 ICD-10-CM Diagnosis Code D82.1. <a rel="nofollow" class="external text" href="https://web.archive.org/web/20150924032516/http://www.icd10data.com/ICD10CM/Codes/D50-D89/D80-D89/D82-/D82.1">Archived</a> from the original on 24 September 2015<span class="reference-accessdate">. Retrieved <span class="nowrap">26 August</span> 2015</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=icd10data.com&rft.atitle=Di+George%27s+syndrome&rft_id=http%3A%2F%2Fwww.icd10data.com%2FICD10CM%2FCodes%2FD50-D89%2FD80-D89%2FD82-%2FD82.1&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-Velo-cardio-facial_syndrome-61"><span class="mw-cite-backlink">^ <a href="#cite_ref-Velo-cardio-facial_syndrome_61-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-Velo-cardio-facial_syndrome_61-1"><sup><i><b>b</b></i></sup></a></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation web cs1"><a rel="nofollow" class="external text" href="http://www.icd10data.com/ICD10CM/Codes/Q00-Q99/Q90-Q99/Q93-/Q93.81">"Velo-cardio-facial syndrome"</a>. <i>icd10data.com</i>. 2015 ICD-10-CM Diagnosis Code Q93.81. <a rel="nofollow" class="external text" href="https://web.archive.org/web/20150924032628/http://www.icd10data.com/ICD10CM/Codes/Q00-Q99/Q90-Q99/Q93-/Q93.81">Archived</a> from the original on 24 September 2015<span class="reference-accessdate">. Retrieved <span class="nowrap">26 August</span> 2015</span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=unknown&rft.jtitle=icd10data.com&rft.atitle=Velo-cardio-facial+syndrome&rft_id=http%3A%2F%2Fwww.icd10data.com%2FICD10CM%2FCodes%2FQ00-Q99%2FQ90-Q99%2FQ93-%2FQ93.81&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-pmid21570089-62"><span class="mw-cite-backlink"><b><a href="#cite_ref-pmid21570089_62-0">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFBassettMcDonald-McGinnDevriendtDigilio2011" class="citation journal cs1">Bassett AS, McDonald-McGinn DM, Devriendt K, Digilio MC, Goldenberg P, Habel A, Marino B, Oskarsdottir S, Philip N, Sullivan K, Swillen A, Vorstman J (August 2011). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197829">"Practical guidelines for managing patients with 22q11.2 deletion syndrome"</a>. <i>J. Pediatr</i>. <b>159</b> (2): 332–9.e1. <a href="/wiki/Doi_(identifier)" class="mw-redirect" title="Doi (identifier)">doi</a>:<a rel="nofollow" class="external text" href="https://doi.org/10.1016%2Fj.jpeds.2011.02.039">10.1016/j.jpeds.2011.02.039</a>. <a href="/wiki/PMC_(identifier)" class="mw-redirect" title="PMC (identifier)">PMC</a> <span class="id-lock-free" title="Freely accessible"><a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3197829">3197829</a></span>. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/21570089">21570089</a>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=J.+Pediatr.&rft.atitle=Practical+guidelines+for+managing+patients+with+22q11.2+deletion+syndrome&rft.volume=159&rft.issue=2&rft.pages=332-9.e1&rft.date=2011-08&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC3197829%23id-name%3DPMC&rft_id=info%3Apmid%2F21570089&rft_id=info%3Adoi%2F10.1016%2Fj.jpeds.2011.02.039&rft.aulast=Bassett&rft.aufirst=AS&rft.au=McDonald-McGinn%2C+DM&rft.au=Devriendt%2C+K&rft.au=Digilio%2C+MC&rft.au=Goldenberg%2C+P&rft.au=Habel%2C+A&rft.au=Marino%2C+B&rft.au=Oskarsdottir%2C+S&rft.au=Philip%2C+N&rft.au=Sullivan%2C+K&rft.au=Swillen%2C+A&rft.au=Vorstman%2C+J&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fpmc%2Farticles%2FPMC3197829&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> <li id="cite_note-63"><span class="mw-cite-backlink"><b><a href="#cite_ref-63">^</a></b></span> <span class="reference-text"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite class="citation news cs1"><a rel="nofollow" class="external text" href="http://www.22q.org/awareness-events/awareness/same-name-campaign/">"Same Name Campaign"</a>. <i>22q.org</i>. <a rel="nofollow" class="external text" href="https://web.archive.org/web/20170610065340/http://www.22q.org/awareness-events/awareness/same-name-campaign/">Archived</a> from the original on 2017-06-10<span class="reference-accessdate">. Retrieved <span class="nowrap">2017-06-18</span></span>.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Ajournal&rft.genre=article&rft.jtitle=22q.org&rft.atitle=Same+Name+Campaign&rft_id=http%3A%2F%2Fwww.22q.org%2Fawareness-events%2Fawareness%2Fsame-name-campaign%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></span> </li> </ol></div></div> <p><i>This article incorporates public domain text from <a rel="nofollow" class="external text" href="http://ghr.nlm.nih.gov">The U.S. National Library of Medicine</a></i> </p> <div class="mw-heading mw-heading2"><h2 id="External_links">External links</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=DiGeorge_syndrome&action=edit&section=15" title="Edit section: External links"><span>edit</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="navbox-styles"><style data-mw-deduplicate="TemplateStyles:r1236075235">.mw-parser-output .navbox{box-sizing:border-box;border:1px solid #a2a9b1;width:100%;clear:both;font-size:88%;text-align:center;padding:1px;margin:1em auto 0}.mw-parser-output .navbox .navbox{margin-top:0}.mw-parser-output .navbox+.navbox,.mw-parser-output .navbox+.navbox-styles+.navbox{margin-top:-1px}.mw-parser-output .navbox-inner,.mw-parser-output .navbox-subgroup{width:100%}.mw-parser-output .navbox-group,.mw-parser-output .navbox-title,.mw-parser-output .navbox-abovebelow{padding:0.25em 1em;line-height:1.5em;text-align:center}.mw-parser-output .navbox-group{white-space:nowrap;text-align:right}.mw-parser-output .navbox,.mw-parser-output .navbox-subgroup{background-color:#fdfdfd}.mw-parser-output .navbox-list{line-height:1.5em;border-color:#fdfdfd}.mw-parser-output .navbox-list-with-group{text-align:left;border-left-width:2px;border-left-style:solid}.mw-parser-output tr+tr>.navbox-abovebelow,.mw-parser-output tr+tr>.navbox-group,.mw-parser-output tr+tr>.navbox-image,.mw-parser-output tr+tr>.navbox-list{border-top:2px solid #fdfdfd}.mw-parser-output .navbox-title{background-color:#ccf}.mw-parser-output .navbox-abovebelow,.mw-parser-output .navbox-group,.mw-parser-output .navbox-subgroup .navbox-title{background-color:#ddf}.mw-parser-output .navbox-subgroup .navbox-group,.mw-parser-output .navbox-subgroup .navbox-abovebelow{background-color:#e6e6ff}.mw-parser-output .navbox-even{background-color:#f7f7f7}.mw-parser-output .navbox-odd{background-color:transparent}.mw-parser-output .navbox .hlist td dl,.mw-parser-output .navbox .hlist td ol,.mw-parser-output .navbox .hlist td ul,.mw-parser-output .navbox td.hlist dl,.mw-parser-output .navbox td.hlist ol,.mw-parser-output .navbox td.hlist ul{padding:0.125em 0}.mw-parser-output .navbox .navbar{display:block;font-size:100%}.mw-parser-output .navbox-title .navbar{float:left;text-align:left;margin-right:0.5em}body.skin--responsive .mw-parser-output .navbox-image img{max-width:none!important}@media print{body.ns-0 .mw-parser-output .navbox{display:none!important}}</style><style data-mw-deduplicate="TemplateStyles:r1129693374">.mw-parser-output .hlist dl,.mw-parser-output .hlist ol,.mw-parser-output .hlist ul{margin:0;padding:0}.mw-parser-output .hlist dd,.mw-parser-output .hlist dt,.mw-parser-output .hlist li{margin:0;display:inline}.mw-parser-output .hlist.inline,.mw-parser-output .hlist.inline dl,.mw-parser-output .hlist.inline ol,.mw-parser-output .hlist.inline ul,.mw-parser-output .hlist dl dl,.mw-parser-output .hlist dl ol,.mw-parser-output .hlist dl ul,.mw-parser-output .hlist ol dl,.mw-parser-output .hlist ol ol,.mw-parser-output .hlist ol ul,.mw-parser-output .hlist ul dl,.mw-parser-output .hlist ul ol,.mw-parser-output .hlist ul ul{display:inline}.mw-parser-output .hlist .mw-empty-li{display:none}.mw-parser-output .hlist dt::after{content:": "}.mw-parser-output .hlist dd::after,.mw-parser-output .hlist li::after{content:" · ";font-weight:bold}.mw-parser-output .hlist dd:last-child::after,.mw-parser-output .hlist dt:last-child::after,.mw-parser-output .hlist li:last-child::after{content:none}.mw-parser-output .hlist dd dd:first-child::before,.mw-parser-output .hlist dd dt:first-child::before,.mw-parser-output .hlist dd li:first-child::before,.mw-parser-output .hlist dt dd:first-child::before,.mw-parser-output .hlist dt dt:first-child::before,.mw-parser-output .hlist dt li:first-child::before,.mw-parser-output .hlist li dd:first-child::before,.mw-parser-output .hlist li dt:first-child::before,.mw-parser-output .hlist li li:first-child::before{content:" (";font-weight:normal}.mw-parser-output .hlist dd dd:last-child::after,.mw-parser-output .hlist dd dt:last-child::after,.mw-parser-output .hlist dd li:last-child::after,.mw-parser-output .hlist dt dd:last-child::after,.mw-parser-output .hlist dt dt:last-child::after,.mw-parser-output .hlist dt li:last-child::after,.mw-parser-output .hlist li dd:last-child::after,.mw-parser-output .hlist li dt:last-child::after,.mw-parser-output .hlist li li:last-child::after{content:")";font-weight:normal}.mw-parser-output .hlist ol{counter-reset:listitem}.mw-parser-output .hlist ol>li{counter-increment:listitem}.mw-parser-output .hlist ol>li::before{content:" "counter(listitem)"\a0 "}.mw-parser-output .hlist dd ol>li:first-child::before,.mw-parser-output .hlist dt ol>li:first-child::before,.mw-parser-output .hlist li ol>li:first-child::before{content:" ("counter(listitem)"\a0 "}</style><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"></div><div role="navigation" class="navbox" aria-label="Navbox" style="width:100%; margin:0.5em 0 0.5em 0;;padding:3px"><table class="nowraplinks navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">Classification</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><div style="position:relative; float:right; font-size:0.8em;"><a href="https://www.wikidata.org/wiki/Q525642" class="extiw" title="d:Q525642">D</a></div><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-11" title="ICD-11">11</a></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse/latest-release/mms/en#1868156761">LD44.N0</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/ICD-10" title="ICD-10">10</a></b>: <a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/D82.1">D82.1</a></li><li><b><a href="/wiki/International_Statistical_Classification_of_Diseases_and_Related_Health_Problems" class="mw-redirect" title="International Statistical Classification of Diseases and Related Health Problems">ICD</a>-<a href="/wiki/List_of_ICD-9_codes" title="List of ICD-9 codes">9-CM</a></b>: <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=279.11">279.11</a>, <a rel="nofollow" class="external text" href="http://www.icd9data.com/getICD9Code.ashx?icd9=758.32">758.32</a></li><li><b><a href="/wiki/Online_Mendelian_Inheritance_in_Man" title="Online Mendelian Inheritance in Man">OMIM</a></b>: <a rel="nofollow" class="external text" href="https://omim.org/entry/188400">188400</a></li><li><b><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a></b>: <a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=D004062">D004062</a></li><li><b><a href="/wiki/Diseases_Database" title="Diseases Database">DiseasesDB</a></b>: <a rel="nofollow" class="external text" href="http://www.diseasesdatabase.com/ddb3631.htm">3631</a></li></ul></div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%;background: #EAECF0;color:black;">External resources</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"><div class="hlist" style="text-align:left;"><ul><li><b><a href="/wiki/EMedicine" title="EMedicine">eMedicine</a></b>: <a rel="nofollow" class="external text" href="https://emedicine.medscape.com/med/567-overview">med/567</a> <a rel="nofollow" class="external text" href="https://www.emedicine.com/ped/topic589.htm#">ped/589</a><a rel="nofollow" class="external text" href="https://www.emedicine.com/derm/topic716.htm#">derm/716</a></li><li><b><a href="/wiki/Patient_UK" title="Patient UK">Patient UK</a></b>: <a rel="nofollow" class="external text" href="https://patient.info/doctor/digeorge-syndrome">DiGeorge syndrome</a></li><li><b><a href="/wiki/GeneReviews" title="GeneReviews">GeneReviews</a></b>: <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1523/">22q11.2 Deletion Syndrome</a></li><li><b><a href="/wiki/National_Organization_for_Rare_Disorders" title="National Organization for Rare Disorders">NORD</a></b>: <a rel="nofollow" class="external text" href="https://rarediseases.org/rare-diseases/chromosome-22q11-2-deletion-syndrome">chromosome-22q11-2-deletion-syndrome</a></li><li><b><a href="/wiki/GARD" class="mw-redirect" title="GARD">GARD</a></b>: <a rel="nofollow" class="external text" href="https://rarediseases.info.nih.gov/diseases/10299/22q112-deletion-syndrome">22q112-deletion-syndrome</a></li><li><b><a href="/wiki/Orphanet" title="Orphanet">Orphanet</a></b>: <a rel="nofollow" class="external text" href="https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=567">567</a></li></ul></div></div></td></tr></tbody></table></div> <style data-mw-deduplicate="TemplateStyles:r1235681985">.mw-parser-output .side-box{margin:4px 0;box-sizing:border-box;border:1px solid #aaa;font-size:88%;line-height:1.25em;background-color:var(--background-color-interactive-subtle,#f8f9fa);display:flow-root}.mw-parser-output .side-box-abovebelow,.mw-parser-output .side-box-text{padding:0.25em 0.9em}.mw-parser-output .side-box-image{padding:2px 0 2px 0.9em;text-align:center}.mw-parser-output .side-box-imageright{padding:2px 0.9em 2px 0;text-align:center}@media(min-width:500px){.mw-parser-output .side-box-flex{display:flex;align-items:center}.mw-parser-output .side-box-text{flex:1;min-width:0}}@media(min-width:720px){.mw-parser-output .side-box{width:238px}.mw-parser-output .side-box-right{clear:right;float:right;margin-left:1em}.mw-parser-output .side-box-left{margin-right:1em}}</style><style data-mw-deduplicate="TemplateStyles:r1237033735">@media print{body.ns-0 .mw-parser-output .sistersitebox{display:none!important}}@media screen{html.skin-theme-clientpref-night .mw-parser-output .sistersitebox img[src*="Wiktionary-logo-en-v2.svg"]{background-color:white}}@media screen and (prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .sistersitebox img[src*="Wiktionary-logo-en-v2.svg"]{background-color:white}}</style><div class="side-box side-box-right plainlinks sistersitebox"><style data-mw-deduplicate="TemplateStyles:r1126788409">.mw-parser-output .plainlist ol,.mw-parser-output .plainlist ul{line-height:inherit;list-style:none;margin:0;padding:0}.mw-parser-output .plainlist ol li,.mw-parser-output .plainlist ul li{margin-bottom:0}</style> <div class="side-box-flex"> <div class="side-box-image"><span class="noviewer" typeof="mw:File"><span><img alt="" src="//upload.wikimedia.org/wikipedia/en/thumb/4/4a/Commons-logo.svg/30px-Commons-logo.svg.png" decoding="async" width="30" height="40" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/4/4a/Commons-logo.svg/45px-Commons-logo.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/4/4a/Commons-logo.svg/59px-Commons-logo.svg.png 2x" data-file-width="1024" data-file-height="1376" /></span></span></div> <div class="side-box-text plainlist">Wikimedia Commons has media related to <span style="font-weight: bold; font-style: italic;"><a href="https://commons.wikimedia.org/wiki/Category:DiGeorge_syndrome" class="extiw" title="commons:Category:DiGeorge syndrome">DiGeorge syndrome</a></span>.</div></div> </div> <ul><li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFMcDonald-McGinnEmanuelZackai2005" class="citation book cs1">McDonald-McGinn DM, Emanuel BS, Zackai EH (December 16, 2005). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK1523/">"22q11.2 Deletion Syndrome"</a>. In Pagon RA, Bird TD, Dolan CR, Stephens K (eds.). <i>GeneReviews</i>. University of Washington, Seattle. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20301696">20301696</a>. NBK1523.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=bookitem&rft.atitle=22q11.2+Deletion+Syndrome&rft.btitle=GeneReviews&rft.pub=University+of+Washington%2C+Seattle&rft.date=2005-12-16&rft_id=info%3Apmid%2F20301696&rft.aulast=McDonald-McGinn&rft.aufirst=DM&rft.au=Emanuel%2C+BS&rft.au=Zackai%2C+EH&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fbooks%2FNBK1523%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></li> <li><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1238218222"><cite id="CITEREFFirth_HV2009" class="citation book cs1">Firth HV (February 17, 2009). <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/books/NBK3823/">"22q11.2 Duplication"</a>. In Pagon RA, Bird TD, Dolan CR, Stephens K (eds.). <i>GeneReviews</i>. University of Washington, Seattle. <a href="/wiki/PMID_(identifier)" class="mw-redirect" title="PMID (identifier)">PMID</a> <a rel="nofollow" class="external text" href="https://pubmed.ncbi.nlm.nih.gov/20301749">20301749</a>. NBK3823.</cite><span title="ctx_ver=Z39.88-2004&rft_val_fmt=info%3Aofi%2Ffmt%3Akev%3Amtx%3Abook&rft.genre=bookitem&rft.atitle=22q11.2+Duplication&rft.btitle=GeneReviews&rft.pub=University+of+Washington%2C+Seattle&rft.date=2009-02-17&rft_id=info%3Apmid%2F20301749&rft.au=Firth+HV&rft_id=https%3A%2F%2Fwww.ncbi.nlm.nih.gov%2Fbooks%2FNBK3823%2F&rfr_id=info%3Asid%2Fen.wikipedia.org%3ADiGeorge+syndrome" class="Z3988"></span></li></ul> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Autism" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><style data-mw-deduplicate="TemplateStyles:r1239400231">.mw-parser-output .navbar{display:inline;font-size:88%;font-weight:normal}.mw-parser-output .navbar-collapse{float:left;text-align:left}.mw-parser-output .navbar-boxtext{word-spacing:0}.mw-parser-output .navbar ul{display:inline-block;white-space:nowrap;line-height:inherit}.mw-parser-output .navbar-brackets::before{margin-right:-0.125em;content:"[ "}.mw-parser-output .navbar-brackets::after{margin-left:-0.125em;content:" ]"}.mw-parser-output .navbar li{word-spacing:-0.125em}.mw-parser-output .navbar a>span,.mw-parser-output .navbar a>abbr{text-decoration:inherit}.mw-parser-output .navbar-mini abbr{font-variant:small-caps;border-bottom:none;text-decoration:none;cursor:inherit}.mw-parser-output .navbar-ct-full{font-size:114%;margin:0 7em}.mw-parser-output .navbar-ct-mini{font-size:114%;margin:0 4em}html.skin-theme-clientpref-night .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}@media(prefers-color-scheme:dark){html.skin-theme-clientpref-os .mw-parser-output .navbar li a abbr{color:var(--color-base)!important}}@media print{.mw-parser-output .navbar{display:none!important}}</style><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Autism" title="Template:Autism"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Autism" title="Template talk:Autism"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Autism" title="Special:EditPage/Template:Autism"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Autism" style="font-size:114%;margin:0 4em"><a href="/wiki/Autism" title="Autism">Autism</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%">Main</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Causes_of_autism" title="Causes of autism">Causes</a></li> <li><a href="/wiki/Diagnosis_of_autism" title="Diagnosis of autism">Diagnosis</a></li> <li><a href="/wiki/Epidemiology_of_autism" title="Epidemiology of autism">Epidemiology</a></li> <li><a href="/wiki/Epigenetics_of_autism" title="Epigenetics of autism">Epigenetics</a></li> <li><a href="/wiki/Heritability_of_autism" title="Heritability of autism">Heritability</a></li> <li><a href="/wiki/History_of_autism" title="History of autism">History</a></li> <li><a href="/wiki/Autism_and_memory" title="Autism and memory">Memory</a></li> <li><a href="/wiki/Pathophysiology_of_autism" class="mw-redirect" title="Pathophysiology of autism">Pathophysiology</a></li> <li><a href="/wiki/Sex_and_gender_differences_in_autism" title="Sex and gender differences in autism">Sex and gender</a></li> <li><a href="/wiki/Societal_and_cultural_aspects_of_autism" title="Societal and cultural aspects of autism">Societal and cultural aspects</a></li> <li><a href="/wiki/Autism_therapies" title="Autism therapies">Therapies</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Diagnoses</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Pervasive_developmental_disorder" title="Pervasive developmental disorder">Pervasive developmental disorder</a> <ul><li><a href="/wiki/Classic_autism" title="Classic autism">Autistic disorder</a></li> <li><a href="/wiki/Asperger_syndrome" title="Asperger syndrome">Asperger syndrome</a></li> <li><a href="/wiki/Pervasive_developmental_disorder_not_otherwise_specified" title="Pervasive developmental disorder not otherwise specified">Pervasive developmental disorder not otherwise specified</a></li> <li><a href="/wiki/Childhood_disintegrative_disorder" title="Childhood disintegrative disorder">Childhood disintegrative disorder</a></li></ul></li> <li><a href="/wiki/High-functioning_autism" title="High-functioning autism">High-functioning autism</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Associated conditions<br />and phenomena</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Alexithymia" title="Alexithymia">Alexithymia</a></li> <li><a href="/wiki/Autism_and_LGBTQ_identities" title="Autism and LGBTQ identities">Autism and LGBTQ identities</a></li> <li><a href="/wiki/Autistic_burnout" title="Autistic burnout">Autistic burnout</a></li> <li><a href="/wiki/Autistic_catatonia" title="Autistic catatonia">Autistic catatonia</a></li> <li><a href="/wiki/Autistic_masking" title="Autistic masking">Autistic masking</a></li> <li><a href="/wiki/Autistic_meltdown" title="Autistic meltdown">Autistic meltdown</a></li> <li><a href="/wiki/Echolalia" title="Echolalia">Echolalia</a></li> <li><a href="/wiki/Echopraxia" title="Echopraxia">Echopraxia</a></li> <li><a href="/wiki/Emotional_dysregulation" title="Emotional dysregulation">Emotional dysregulation</a></li> <li><a href="/wiki/Hyperlexia" title="Hyperlexia">Hyperlexia</a></li> <li><a href="/wiki/Infodumping" title="Infodumping">Infodumping</a></li> <li><a href="/wiki/Late_talker" title="Late talker">Late talker</a></li> <li><a href="/wiki/Monotropism" title="Monotropism">Monotropism</a></li> <li><a href="/wiki/Nonverbal_autism" title="Nonverbal autism">Nonverbal autism</a></li> <li><a href="/wiki/Pathological_demand_avoidance" title="Pathological demand avoidance">Pathological demand avoidance</a></li> <li><a href="/wiki/Pronoun_reversal" title="Pronoun reversal">Pronoun reversal</a></li> <li><a href="/wiki/Savant_syndrome" title="Savant syndrome">Savant syndrome</a></li> <li><a href="/wiki/Special_interest_(autism)" title="Special interest (autism)">Special interests</a></li> <li><a href="/wiki/Stimming" title="Stimming">Stimming</a></li> <li><a href="/wiki/Sensory_overload" title="Sensory overload">Sensory overload</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Conditions_comorbid_to_autism" title="Conditions comorbid to autism">Comorbid conditions</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Avoidant/restrictive_food_intake_disorder" title="Avoidant/restrictive food intake disorder">Avoidant/restrictive food intake disorder</a></li> <li><a href="/wiki/Attention_deficit_hyperactivity_disorder" title="Attention deficit hyperactivity disorder">Attention deficit hyperactivity disorder</a></li> <li><a href="/wiki/Anxiety_disorder" title="Anxiety disorder">Anxiety disorder</a> <ul><li><a href="/wiki/Obsessive%E2%80%93compulsive_disorder" title="Obsessive–compulsive disorder">obsessive–compulsive disorder</a></li></ul></li> <li><a href="/wiki/Developmental_coordination_disorder" title="Developmental coordination disorder">Developmental coordination disorder</a></li> <li><a href="/wiki/Epilepsy" title="Epilepsy">Epilepsy</a></li> <li><a href="/wiki/Intellectual_disability" title="Intellectual disability">Intellectual disability</a></li> <li><a href="/wiki/Sensory_processing_disorder" title="Sensory processing disorder">Sensory processing disorder</a></li> <li><a href="/wiki/Global_developmental_delay" title="Global developmental delay">Global developmental delay</a></li> <li><a href="/wiki/Developmental_verbal_dyspraxia" title="Developmental verbal dyspraxia">Developmental verbal dyspraxia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Syndromic_autism" title="Syndromic autism">Associated syndromes</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/22q13_deletion_syndrome" title="22q13 deletion syndrome">22q13 deletion syndrome</a></li> <li><a href="/wiki/Angelman_syndrome" title="Angelman syndrome">Angelman syndrome</a></li> <li><a href="/wiki/CHARGE_syndrome" title="CHARGE syndrome">CHARGE syndrome</a></li> <li><a href="/wiki/Cohen_syndrome" title="Cohen syndrome">Cohen syndrome</a></li> <li><a href="/wiki/Cornelia_de_Lange_syndrome" title="Cornelia de Lange syndrome">Cornelia de Lange syndrome</a></li> <li><a class="mw-selflink selflink">DiGeorge syndrome</a></li> <li><a href="/wiki/Down_syndrome" title="Down syndrome">Down syndrome</a></li> <li><a href="/wiki/Fetal_valproate_spectrum_disorder" title="Fetal valproate spectrum disorder">Fetal valproate spectrum disorder</a></li> <li><a href="/wiki/Fragile_X_syndrome" title="Fragile X syndrome">Fragile X syndrome</a></li> <li><a href="/wiki/MECP2_duplication_syndrome" title="MECP2 duplication syndrome">MECP2 duplication syndrome</a></li> <li><a href="/wiki/Neurofibromatosis_type_I" title="Neurofibromatosis type I">Neurofibromatosis type I</a></li> <li><a href="/wiki/Noonan_syndrome" title="Noonan syndrome">Noonan syndrome</a></li> <li><a href="/wiki/Multiple_hamartoma_syndrome" title="Multiple hamartoma syndrome">Multiple hamartoma syndrome</a></li> <li><a href="/wiki/Rett_syndrome" title="Rett syndrome">Rett syndrome</a></li> <li><a href="/wiki/Smith%E2%80%93Lemli%E2%80%93Opitz_syndrome" title="Smith–Lemli–Opitz syndrome">Smith–Lemli–Opitz syndrome</a></li> <li><a href="/wiki/Timothy_syndrome" title="Timothy syndrome">Timothy syndrome</a></li> <li><a href="/wiki/Tuberous_sclerosis" title="Tuberous sclerosis">Tuberous sclerosis</a></li> <li><a href="/wiki/Williams_syndrome" title="Williams syndrome">Williams syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Related issues</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Autism_rights_movement" title="Autism rights movement">Autism rights movement</a></li> <li><a href="/wiki/Critical_autism_studies" title="Critical autism studies">Critical autism studies</a></li> <li><a href="/wiki/Discrimination_against_autistic_people" title="Discrimination against autistic people">Discrimination</a></li> <li><a href="/wiki/Double_empathy_problem" title="Double empathy problem">Double empathy problem</a></li> <li><a href="/wiki/Employment_of_autistic_people" title="Employment of autistic people">Employment</a></li> <li><a href="/wiki/Multiple_complex_developmental_disorder" title="Multiple complex developmental disorder">Multiple complex developmental disorder</a></li> <li><a href="/wiki/Neurodiversity" title="Neurodiversity">Neurodiversity</a></li> <li><a href="/wiki/Treatment_and_Education_of_Autistic_and_Related_Communication_Handicapped_Children" title="Treatment and Education of Autistic and Related Communication Handicapped Children">TEACCH program</a></li> <li><a href="/wiki/Twice_exceptional" title="Twice exceptional">Twice exceptional</a></li> <li><a href="/wiki/Violence_and_autism" title="Violence and autism">Violence and autism</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Controversies_in_autism" title="Controversies in autism">Controversies</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Facilitated_communication" title="Facilitated communication">Facilitated communication</a></li> <li><a href="/wiki/Lancet_MMR_autism_fraud" title="Lancet MMR autism fraud">Lancet MMR autism fraud</a></li> <li><a href="/wiki/MMR_vaccine_and_autism" title="MMR vaccine and autism">MMR vaccine</a></li> <li><a href="/wiki/Rapid_prompting_method" title="Rapid prompting method">Rapid prompting method</a></li> <li><a href="/wiki/Thiomersal_and_vaccines" title="Thiomersal and vaccines">Thiomersal</a> <ul><li><a href="/wiki/Chelation_therapy" title="Chelation therapy">Chelation</a></li></ul></li> <li><a href="/wiki/Combating_Autism_Act" title="Combating Autism Act">Combating Autism Act</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Diagnostic scales</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Autism_Diagnostic_Interview" title="Autism Diagnostic Interview">Autism Diagnostic Interview</a></li> <li><a href="/wiki/Autism_Diagnostic_Observation_Schedule" title="Autism Diagnostic Observation Schedule">Autism Diagnostic Observation Schedule</a></li> <li><a href="/wiki/Childhood_Autism_Rating_Scale" title="Childhood Autism Rating Scale">Childhood Autism Rating Scale</a></li> <li><a href="/wiki/Gilliam_Asperger%27s_disorder_scale" title="Gilliam Asperger's disorder scale">Gilliam Asperger's disorder scale</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Screening scales</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Autism-spectrum_quotient" title="Autism-spectrum quotient">Autism-spectrum quotient</a></li> <li><a href="/wiki/Childhood_Autism_Spectrum_Test" title="Childhood Autism Spectrum Test">Childhood Autism Spectrum Test</a></li> <li><a href="/wiki/Ritvo_Autism_and_Asperger_Diagnostic_Scale" title="Ritvo Autism and Asperger Diagnostic Scale">Ritvo Autism and Asperger Diagnostic Scale</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Lists</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Outline_of_autism" title="Outline of autism">Autism-related topics</a></li> <li><a href="/wiki/List_of_autistic_fictional_characters" title="List of autistic fictional characters">Fictional characters</a></li> <li><a href="/wiki/List_of_schools_for_people_on_the_autism_spectrum" title="List of schools for people on the autism spectrum">Schools</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Accommodations</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Autism-friendly" title="Autism-friendly">Autism-friendly</a></li> <li><a href="/wiki/Sensory_friendly" title="Sensory friendly">Sensory friendly</a></li></ul> </div></td></tr><tr><td class="navbox-abovebelow hlist" colspan="2"><div> <ul><li><span class="noviewer" typeof="mw:File"><span title="Category"><img alt="" src="//upload.wikimedia.org/wikipedia/en/thumb/9/96/Symbol_category_class.svg/16px-Symbol_category_class.svg.png" decoding="async" width="16" height="16" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/9/96/Symbol_category_class.svg/23px-Symbol_category_class.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/9/96/Symbol_category_class.svg/31px-Symbol_category_class.svg.png 2x" data-file-width="180" data-file-height="185" /></span></span> <a href="/wiki/Category:Autism" title="Category:Autism">Category</a></li></ul> </div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Lymphoid_and_complement_disorders_causing_immunodeficiency" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Lymphoid_and_complement_immunodeficiency" title="Template:Lymphoid and complement immunodeficiency"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Lymphoid_and_complement_immunodeficiency" title="Template talk:Lymphoid and complement immunodeficiency"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Lymphoid_and_complement_immunodeficiency" title="Special:EditPage/Template:Lymphoid and complement immunodeficiency"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Lymphoid_and_complement_disorders_causing_immunodeficiency" style="font-size:114%;margin:0 4em"><a href="/wiki/Lymphatic_system" title="Lymphatic system">Lymphoid</a> and <a href="/wiki/Complement_system" title="Complement system">complement</a> disorders causing <a href="/wiki/Immunodeficiency" title="Immunodeficiency">immunodeficiency</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Primary_immunodeficiency" title="Primary immunodeficiency">Primary</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Antibody" title="Antibody">Antibody</a>/<a href="/wiki/Humoral_immune_deficiency" title="Humoral immune deficiency">humoral</a><br />(<a href="/wiki/B_cell" title="B cell">B</a>)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Hypogammaglobulinemia" title="Hypogammaglobulinemia">Hypogammaglobulinemia</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/X-linked_agammaglobulinemia" title="X-linked agammaglobulinemia">X-linked agammaglobulinemia</a></li> <li><a href="/wiki/Transient_hypogammaglobulinemia_of_infancy" title="Transient hypogammaglobulinemia of infancy">Transient hypogammaglobulinemia of infancy</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Dysgammaglobulinemia" title="Dysgammaglobulinemia">Dysgammaglobulinemia</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Selective_immunoglobulin_A_deficiency" title="Selective immunoglobulin A deficiency">IgA deficiency</a></li> <li><a href="/wiki/IgG_deficiency" title="IgG deficiency">IgG deficiency</a></li> <li><a href="/wiki/Immunoglobulin_M_deficiency" class="mw-redirect" title="Immunoglobulin M deficiency">IgM deficiency</a></li> <li><a href="/wiki/Hyper_IgM_syndrome" title="Hyper IgM syndrome">Hyper IgM syndrome</a> (<a href="/wiki/Hyper-IgM_syndrome_type_1" title="Hyper-IgM syndrome type 1">1</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_2" title="Hyper-IgM syndrome type 2">2</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_3" title="Hyper-IgM syndrome type 3">3</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_4" title="Hyper-IgM syndrome type 4">4</a></li> <li><a href="/wiki/Hyper-IgM_syndrome_type_5" title="Hyper-IgM syndrome type 5">5</a>)</li> <li><a href="/wiki/Wiskott%E2%80%93Aldrich_syndrome" title="Wiskott–Aldrich syndrome">Wiskott–Aldrich syndrome</a></li> <li><a href="/wiki/Hyperimmunoglobulin_E_syndrome" title="Hyperimmunoglobulin E syndrome">Hyper-IgE syndrome</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Common_variable_immunodeficiency" title="Common variable immunodeficiency">Common variable immunodeficiency</a></li> <li><a href="/wiki/ICF_syndrome" class="mw-redirect" title="ICF syndrome">ICF syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/T_cell_deficiency" title="T cell deficiency">T cell deficiency</a><br />(<a href="/wiki/T_cell" title="T cell">T</a>)</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/Thymic_hypoplasia" title="Thymic hypoplasia">thymic hypoplasia</a>:</i> <i>hypoparathyroid</i> (<a class="mw-selflink selflink">Di George's syndrome</a>)</li> <li><i>euparathyroid</i> (<a href="/wiki/Nezelof_syndrome" title="Nezelof syndrome">Nezelof syndrome</a></li> <li><a href="/wiki/Ataxia%E2%80%93telangiectasia" title="Ataxia–telangiectasia">Ataxia–telangiectasia</a>)</li></ul> <p><i>peripheral:</i> <a href="/wiki/Purine_nucleoside_phosphorylase_deficiency" title="Purine nucleoside phosphorylase deficiency">Purine nucleoside phosphorylase deficiency</a> </p> <ul><li><a href="/wiki/Hyper_IgM_syndrome" title="Hyper IgM syndrome">Hyper IgM syndrome</a> (<a href="/wiki/Hyper-IgM_syndrome_type_1" title="Hyper-IgM syndrome type 1">1</a>)</li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Severe_combined_immunodeficiency" title="Severe combined immunodeficiency">Severe</a> <a href="/wiki/Combined_immunodeficiencies" title="Combined immunodeficiencies">combined</a><br />(B+T)</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i>x-linked:</i> <a href="/wiki/X-linked_severe_combined_immunodeficiency" title="X-linked severe combined immunodeficiency">X-SCID</a><br /><i>autosomal:</i> <a href="/wiki/Adenosine_deaminase_deficiency" title="Adenosine deaminase deficiency">Adenosine deaminase deficiency</a></li> <li><a href="/wiki/Omenn_syndrome" title="Omenn syndrome">Omenn syndrome</a></li> <li><a href="/wiki/ZAP70_deficiency" title="ZAP70 deficiency">ZAP70 deficiency</a></li> <li><a href="/wiki/Bare_lymphocyte_syndrome" title="Bare lymphocyte syndrome">Bare lymphocyte syndrome</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Immunodeficiency#acquired" title="Immunodeficiency">Acquired</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/HIV/AIDS" title="HIV/AIDS">HIV/AIDS</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Leukopenia" title="Leukopenia">Leukopenia</a>:<br /><a href="/wiki/Lymphocytopenia" title="Lymphocytopenia">Lymphocytopenia</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Idiopathic_CD4%2B_lymphocytopenia" title="Idiopathic CD4+ lymphocytopenia">Idiopathic CD4+ lymphocytopenia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Complement_deficiency" title="Complement deficiency">Complement<br />deficiency</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><i><a href="/wiki/C1-inhibitor" title="C1-inhibitor">C1-inhibitor</a></i> (<a href="/wiki/Angioedema" title="Angioedema">Angioedema</a>/<a href="/wiki/Hereditary_angioedema" title="Hereditary angioedema">Hereditary angioedema</a>)</li> <li><a href="/wiki/Complement_2_deficiency" title="Complement 2 deficiency">Complement 2 deficiency</a>/<a href="/wiki/Complement_4_deficiency" title="Complement 4 deficiency">Complement 4 deficiency</a></li> <li><a href="/wiki/MBL_deficiency" title="MBL deficiency">MBL deficiency</a></li> <li><a href="/wiki/Properdin_deficiency" title="Properdin deficiency">Properdin deficiency</a></li> <li><a href="/wiki/Complement_3_deficiency" title="Complement 3 deficiency">Complement 3 deficiency</a></li> <li><a href="/wiki/Terminal_complement_pathway_deficiency" title="Terminal complement pathway deficiency">Terminal complement pathway deficiency</a></li> <li><a href="/wiki/Paroxysmal_nocturnal_hemoglobinuria" title="Paroxysmal nocturnal hemoglobinuria">Paroxysmal nocturnal hemoglobinuria</a></li> <li><a href="/wiki/Complement_receptor_deficiency" class="mw-redirect" title="Complement receptor deficiency">Complement receptor deficiency</a></li></ul> </div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Lymphatic_disease:_organ_and_vessel_diseases" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Lymphatic_organ_and_vessel_disease" title="Template:Lymphatic organ and vessel disease"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Lymphatic_organ_and_vessel_disease" title="Template talk:Lymphatic organ and vessel disease"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Lymphatic_organ_and_vessel_disease" title="Special:EditPage/Template:Lymphatic organ and vessel disease"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Lymphatic_disease:_organ_and_vessel_diseases" style="font-size:114%;margin:0 4em"><a href="/wiki/Lymphatic_disease" title="Lymphatic disease">Lymphatic disease</a>: organ and vessel diseases</div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Thymus" title="Thymus">Thymus</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Abscess_of_thymus" title="Abscess of thymus">Abscess</a></li> <li><a href="/wiki/Thymus_hyperplasia" title="Thymus hyperplasia">Hyperplasia</a></li> <li><a href="/wiki/Thymic_hypoplasia" title="Thymic hypoplasia">Hypoplasia</a> <ul><li><a class="mw-selflink selflink">DiGeorge syndrome</a></li></ul></li> <li><a href="/wiki/Ectopic_thymus" title="Ectopic thymus">Ectopic thymus</a></li> <li><a href="/wiki/Thymoma" title="Thymoma">Thymoma</a></li> <li><a href="/wiki/Thymic_carcinoma" title="Thymic carcinoma">Thymic carcinoma</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Spleen#Clinical_significance" title="Spleen">Spleen</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Asplenia" title="Asplenia">Asplenia</a> <ul><li><a href="/wiki/Asplenia_with_cardiovascular_anomalies" title="Asplenia with cardiovascular anomalies">Asplenia with cardiovascular anomalies</a></li></ul></li> <li><a href="/wiki/Accessory_spleen" title="Accessory spleen">Accessory spleen</a></li> <li><a href="/wiki/Polysplenia" title="Polysplenia">Polysplenia</a></li> <li><a href="/wiki/Wandering_spleen" title="Wandering spleen">Wandering spleen</a></li> <li><a href="/wiki/Splenomegaly" title="Splenomegaly">Splenomegaly</a> <ul><li><a href="/wiki/Banti%27s_syndrome" title="Banti's syndrome">Banti's syndrome</a></li></ul></li> <li><a href="/wiki/Splenic_infarction" title="Splenic infarction">Splenic infarction</a></li> <li><a href="/wiki/Splenic_tumor" title="Splenic tumor">Splenic tumor</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Lymph_node" title="Lymph node">Lymph node</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Lymphadenopathy" title="Lymphadenopathy">Lymphadenopathy</a></li> <li><a href="/wiki/Generalized_lymphadenopathy" title="Generalized lymphadenopathy">Generalized lymphadenopathy</a></li> <li><a href="/wiki/Castleman%27s_disease" class="mw-redirect" title="Castleman's disease">Castleman's disease</a></li> <li><a href="/wiki/Intranodal_palisaded_myofibroblastoma" title="Intranodal palisaded myofibroblastoma">Intranodal palisaded myofibroblastoma</a></li> <li><a href="/wiki/Kikuchi_disease" title="Kikuchi disease">Kikuchi disease</a></li> <li><a href="/wiki/Tonsils" class="mw-redirect" title="Tonsils">Tonsils</a> <ul><li>see <a href="/wiki/Template:Respiratory_pathology" title="Template:Respiratory pathology">Template:Respiratory pathology</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Lymphatic_vessel" title="Lymphatic vessel">Lymphatic vessels</a></th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Lymphangitis" title="Lymphangitis">Lymphangitis</a></li> <li><a href="/wiki/Lymphangiectasia" title="Lymphangiectasia">Lymphangiectasia</a></li> <li><a href="/wiki/Lymphedema" title="Lymphedema">Lymphedema</a></li> <li><a href="/wiki/Primary_lymphedema" title="Primary lymphedema">Primary lymphedema</a> <ul><li><a href="/wiki/Congenital_lymphedema" class="mw-redirect" title="Congenital lymphedema">Congenital lymphedema</a></li> <li><a href="/wiki/Lymphedema_praecox" title="Lymphedema praecox">Lymphedema praecox</a></li> <li><a href="/wiki/Lymphedema_tarda" class="mw-redirect" title="Lymphedema tarda">Lymphedema tarda</a></li> <li><a href="/wiki/Lymphedema%E2%80%93distichiasis_syndrome" title="Lymphedema–distichiasis syndrome">Lymphedema–distichiasis syndrome</a></li> <li><a href="/wiki/Milroy%27s_disease" title="Milroy's disease">Milroy's disease</a></li></ul></li> <li><a href="/wiki/Secondary_lymphedema" title="Secondary lymphedema">Secondary lymphedema</a> <ul><li><a href="/wiki/Bullous_lymphedema" title="Bullous lymphedema">Bullous lymphedema</a></li> <li><a href="/wiki/Factitial_lymphedema" title="Factitial lymphedema">Factitial lymphedema</a></li> <li><a href="/wiki/Postinflammatory_lymphedema" title="Postinflammatory lymphedema">Postinflammatory lymphedema</a></li> <li><a href="/wiki/Postmastectomy_lymphangiosarcoma" class="mw-redirect" title="Postmastectomy lymphangiosarcoma">Postmastectomy lymphangiosarcoma</a></li></ul></li> <li><a href="/wiki/Waldmann_disease" title="Waldmann disease">Waldmann disease</a></li></ul> </div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Chromosome_abnormalities" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Chromosomal_abnormalities" title="Template:Chromosomal abnormalities"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Chromosomal_abnormalities" title="Template talk:Chromosomal abnormalities"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Chromosomal_abnormalities" title="Special:EditPage/Template:Chromosomal abnormalities"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Chromosome_abnormalities" style="font-size:114%;margin:0 4em"><a href="/wiki/Chromosome_abnormality" title="Chromosome abnormality">Chromosome abnormalities</a></div></th></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Autosome" title="Autosome">Autosomal</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Duplications,<br />including <a href="/wiki/Trisomy" title="Trisomy">trisomies</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/1q21.1_duplication_syndrome" title="1q21.1 duplication syndrome">1q21.1 duplication syndrome</a></li> <li><a href="/wiki/Syndactyly-nystagmus_syndrome_due_to_2q31.1_microduplication" title="Syndactyly-nystagmus syndrome due to 2q31.1 microduplication">2q31.1 microduplication</a></li> <li><a href="/wiki/Trisomy_8" title="Trisomy 8">Trisomy 8</a></li> <li><a href="/wiki/Trisomy_9" title="Trisomy 9">Trisomy 9</a></li> <li><a href="/wiki/Tetrasomy_9p" title="Tetrasomy 9p">Tetrasomy 9p</a></li> <li><a href="/wiki/Distal_trisomy_10q" title="Distal trisomy 10q">Distal trisomy 10q</a></li> <li><a href="/wiki/Patau_syndrome" title="Patau syndrome">Patau syndrome</a> <ul><li><a href="/wiki/Chromosome_13" title="Chromosome 13">13</a></li></ul></li> <li><a href="/wiki/Trisomy_16" title="Trisomy 16">Trisomy 16</a></li> <li><a href="/wiki/16p11.2_duplication_syndrome" title="16p11.2 duplication syndrome">16p11.2 duplication syndrome</a></li> <li><a href="/wiki/Trisomy_18" title="Trisomy 18">Trisomy 18</a></li> <li><a href="/wiki/Down_syndrome" title="Down syndrome">Down syndrome</a> <ul><li><a href="/wiki/Chromosome_21" title="Chromosome 21">21</a></li></ul></li> <li><a href="/wiki/22q11.2_duplication_syndrome" title="22q11.2 duplication syndrome">22q11.2 duplication syndrome</a></li> <li><a href="/wiki/Trisomy_22" title="Trisomy 22">Trisomy 22</a></li> <li><a href="/wiki/Cat_eye_syndrome" title="Cat eye syndrome">Cat-eye syndrome</a> <ul><li><a href="/wiki/Chromosome_22" title="Chromosome 22">22</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Deletion_(genetics)" title="Deletion (genetics)">Deletions</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li>(<a href="/wiki/1q21.1_copy_number_variations" title="1q21.1 copy number variations">1q21.1 copy number variations</a>/<a href="/wiki/1q21.1_deletion_syndrome" title="1q21.1 deletion syndrome">1q21.1 deletion syndrome</a>/<a href="/wiki/1q21.1_duplication_syndrome" title="1q21.1 duplication syndrome">1q21.1 duplication syndrome</a>/<a href="/wiki/TAR_syndrome" title="TAR syndrome">TAR syndrome</a>/<a href="/wiki/1p36_deletion_syndrome" title="1p36 deletion syndrome">1p36 deletion syndrome</a>) <ul><li><a href="/wiki/Chromosome_1" title="Chromosome 1">1</a></li></ul></li> <li><a href="/wiki/Wolf%E2%80%93Hirschhorn_syndrome" title="Wolf–Hirschhorn syndrome">Wolf–Hirschhorn syndrome</a> <ul><li><a href="/wiki/Chromosome_4" title="Chromosome 4">4</a></li></ul></li> <li><a href="/wiki/Cri_du_chat_syndrome" title="Cri du chat syndrome">Cri du chat syndrome</a>/<a href="/wiki/Chromosome_5q_deletion_syndrome" title="Chromosome 5q deletion syndrome">Chromosome 5q deletion syndrome</a> <ul><li><a href="/wiki/Chromosome_5" title="Chromosome 5">5</a></li></ul></li> <li><a href="/wiki/Williams_syndrome" title="Williams syndrome">Williams syndrome</a> <ul><li><a href="/wiki/Chromosome_7" title="Chromosome 7">7</a></li></ul></li> <li><a href="/wiki/Jacobsen_syndrome" title="Jacobsen syndrome">Jacobsen syndrome</a> <ul><li><a href="/wiki/Chromosome_11" title="Chromosome 11">11</a></li></ul></li> <li><a href="/wiki/Miller%E2%80%93Dieker_syndrome" title="Miller–Dieker syndrome">Miller–Dieker syndrome</a>/<a href="/wiki/Smith%E2%80%93Magenis_syndrome" title="Smith–Magenis syndrome">Smith–Magenis syndrome</a>/<a href="/wiki/17q12_microdeletion_syndrome" title="17q12 microdeletion syndrome">17q12 microdeletion syndrome</a> <ul><li><a href="/wiki/Chromosome_17" title="Chromosome 17">17</a></li></ul></li> <li><a class="mw-selflink selflink">DiGeorge syndrome</a> <ul><li><a href="/wiki/Chromosome_22" title="Chromosome 22">22</a></li></ul></li> <li><a href="/wiki/22q11.2_distal_deletion_syndrome" title="22q11.2 distal deletion syndrome">22q11.2 distal deletion syndrome</a> <ul><li><a href="/wiki/Chromosome_22" title="Chromosome 22">22</a></li></ul></li> <li><a href="/wiki/22q13_deletion_syndrome" title="22q13 deletion syndrome">22q13 deletion syndrome</a> <ul><li><a href="/wiki/Chromosome_22" title="Chromosome 22">22</a></li></ul></li></ul> <ul><li><i><a href="/wiki/Genomic_imprinting" title="Genomic imprinting">genomic imprinting</a></i> <ul><li><a href="/wiki/Angelman_syndrome" title="Angelman syndrome">Angelman syndrome</a>/<a href="/wiki/Prader%E2%80%93Willi_syndrome" title="Prader–Willi syndrome">Prader–Willi syndrome</a> (<a href="/wiki/Chromosome_15" title="Chromosome 15">15</a>)</li></ul></li></ul> <ul><li><a href="/wiki/Distal_18q-" title="Distal 18q-">Distal 18q-</a>/<a href="/wiki/Proximal_18q-" title="Proximal 18q-">Proximal 18q-</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/X_chromosome" title="X chromosome">X</a>/<a href="/wiki/Y_chromosome" title="Y chromosome">Y</a> linked</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Monosomy" title="Monosomy">Monosomies</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Turner_syndrome" title="Turner syndrome">Turner syndrome (45,X)</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Trisomy" title="Trisomy">Trisomies</a>/<a href="/wiki/Tetrasomy" title="Tetrasomy">tetrasomies</a>,<br /><a href="/wiki/Aneuploidy" title="Aneuploidy">other karyotypes</a>/<a href="/wiki/Mosaic_(genetics)" title="Mosaic (genetics)">mosaics</a></th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Klinefelter_syndrome" title="Klinefelter syndrome">Klinefelter syndrome (47,XXY)</a></li> <li><a href="/wiki/XXYY_syndrome" title="XXYY syndrome">XXYY syndrome (48,XXYY)</a></li> <li><a href="/wiki/XXXY_syndrome" title="XXXY syndrome">XXXY syndrome (48,XXXY)</a></li> <li><a href="/wiki/XXXYY_syndrome" title="XXXYY syndrome">XXXYY syndrome (49,XXXYY)</a></li> <li><a href="/wiki/XXXXY_syndrome" title="XXXXY syndrome">XXXXY syndrome (49,XXXXY)</a></li></ul> <ul><li><a href="/wiki/Trisomy_X" title="Trisomy X">Trisomy X (47,XXX)</a></li> <li><a href="/wiki/Tetrasomy_X" title="Tetrasomy X">Tetrasomy X (48,XXXX)</a></li> <li><a href="/wiki/Pentasomy_X" title="Pentasomy X">Pentasomy X (49,XXXXX)</a></li></ul> <ul><li><a href="/wiki/XYY_syndrome" title="XYY syndrome">XYY syndrome (47,XYY)</a></li> <li><a href="/wiki/XYYY_syndrome" title="XYYY syndrome">XYYY syndrome (48,XYYY)</a></li> <li><a href="/wiki/XYYYY_syndrome" title="XYYYY syndrome">XYYYY syndrome (49,XYYYY)</a></li></ul> <ul><li><a href="/wiki/45,X/46,XY_mosaicism" title="45,X/46,XY mosaicism">45,X/46,XY</a></li> <li><a href="/wiki/46,XX/46,XY" title="46,XX/46,XY">46,XX/46,XY</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Chromosomal_translocation" title="Chromosomal translocation">Translocations</a></th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Leukemia" title="Leukemia">Leukemia</a>/<a href="/wiki/Lymphoma" title="Lymphoma">lymphoma</a></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Lymphoid</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Burkitt_lymphoma" title="Burkitt lymphoma">Burkitt lymphoma</a> t(8 <a href="/wiki/Myc" title="Myc">MYC</a>;14 <a href="/wiki/IGH@" title="IGH@">IGH</a>)</li> <li><a href="/wiki/Follicular_lymphoma" title="Follicular lymphoma">Follicular lymphoma</a> t(14 <a href="/wiki/IGH@" title="IGH@">IGH</a>;18 <a href="/wiki/Bcl-2" title="Bcl-2">BCL2</a>)</li> <li><a href="/wiki/Mantle_cell_lymphoma" title="Mantle cell lymphoma">Mantle cell lymphoma</a>/<a href="/wiki/Multiple_myeloma" title="Multiple myeloma">Multiple myeloma</a> <a href="/wiki/T(11:14)" title="T(11:14)">t(11 CCND1:14 IGH)</a></li> <li><a href="/wiki/Anaplastic_large-cell_lymphoma" title="Anaplastic large-cell lymphoma">Anaplastic large-cell lymphoma </a> t(2 <a href="/wiki/Anaplastic_lymphoma_kinase" title="Anaplastic lymphoma kinase">ALK</a>;5 <a href="/wiki/NPM1" title="NPM1">NPM1</a>)</li> <li><a href="/wiki/Acute_lymphoblastic_leukemia" title="Acute lymphoblastic leukemia">Acute lymphoblastic leukemia</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Myeloid</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Philadelphia_chromosome" title="Philadelphia chromosome">Philadelphia chromosome</a> t(9 <a href="/wiki/ABL_(gene)" title="ABL (gene)">ABL</a>; 22 <a href="/wiki/BCR_(gene)" title="BCR (gene)">BCR</a>)</li> <li><a href="/wiki/Acute_myeloblastic_leukemia_with_maturation" title="Acute myeloblastic leukemia with maturation">Acute myeloblastic leukemia with maturation</a> t(8 <a href="/wiki/RUNX1T1" title="RUNX1T1">RUNX1T1</a>;21 <a href="/wiki/RUNX1" title="RUNX1">RUNX1</a>)</li> <li><a href="/wiki/Acute_promyelocytic_leukemia" title="Acute promyelocytic leukemia">Acute promyelocytic leukemia</a> t(15 <a href="/wiki/Promyelocytic_leukemia_protein" title="Promyelocytic leukemia protein">PML</a>,17 <a href="/wiki/Retinoic_acid_receptor_alpha" title="Retinoic acid receptor alpha">RARA</a>)</li> <li><a href="/wiki/Acute_megakaryoblastic_leukemia" title="Acute megakaryoblastic leukemia">Acute megakaryoblastic leukemia</a> t(1 <a href="/wiki/RBM15" title="RBM15">RBM15</a>;22 <a href="/wiki/MKL1" title="MKL1">MKL1</a>)</li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Ewing_sarcoma" title="Ewing sarcoma">Ewing sarcoma</a> t(11 <a href="/wiki/FLI1" title="FLI1">FLI1</a>; 22 <a href="/wiki/RNA-binding_protein_EWS" title="RNA-binding protein EWS">EWS</a>)</li> <li><a href="/wiki/Synovial_sarcoma" title="Synovial sarcoma">Synovial sarcoma</a> t(x <a href="/wiki/SYT1" title="SYT1">SYT</a>;18 <a href="/wiki/Synovial_sarcoma,_X_breakpoint" title="Synovial sarcoma, X breakpoint">SSX</a>)</li> <li><a href="/wiki/Dermatofibrosarcoma_protuberans" title="Dermatofibrosarcoma protuberans">Dermatofibrosarcoma protuberans</a> t(17 <a href="/wiki/Collagen,_type_I,_alpha_1" title="Collagen, type I, alpha 1">COL1A1</a>;22 <a href="/wiki/PDGFB" title="PDGFB">PDGFB</a>)</li> <li><a href="/wiki/Myxoid_liposarcoma" title="Myxoid liposarcoma">Myxoid liposarcoma</a> t(12 <a href="/wiki/DNA_damage-inducible_transcript_3" title="DNA damage-inducible transcript 3">DDIT3</a>; 16 <a href="/wiki/RNA-binding_protein_FUS" title="RNA-binding protein FUS">FUS</a>)</li> <li><a href="/wiki/Desmoplastic_small-round-cell_tumor" title="Desmoplastic small-round-cell tumor">Desmoplastic small-round-cell tumor</a> t(11 <a href="/wiki/Wilms_tumor_protein" title="Wilms tumor protein">WT1</a>; 22 <a href="/wiki/RNA-binding_protein_EWS" title="RNA-binding protein EWS">EWS</a>)</li> <li><a href="/wiki/Alveolar_rhabdomyosarcoma" title="Alveolar rhabdomyosarcoma">Alveolar rhabdomyosarcoma</a> t(2 <a href="/wiki/PAX3" title="PAX3">PAX3</a>; 13 <a href="/wiki/Forkhead_box_protein_O1" title="Forkhead box protein O1">FOXO1</a>) t (1 <a href="/wiki/PAX7" title="PAX7">PAX7</a>; 13 <a href="/wiki/Forkhead_box_protein_O1" title="Forkhead box protein O1">FOXO1</a>)</li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Other</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Fragile_X_syndrome" title="Fragile X syndrome">Fragile X syndrome</a></li> <li><a href="/wiki/Uniparental_disomy" title="Uniparental disomy">Uniparental disomy</a></li> <li><a href="/wiki/XX_male_syndrome" title="XX male syndrome">XX male syndrome</a>/<a href="/wiki/XX_male_syndrome" title="XX male syndrome">46,XX testicular disorders of sex development</a></li> <li><a href="/wiki/Marker_chromosome" title="Marker chromosome">Marker chromosome</a></li> <li><a href="/wiki/Ring_chromosome" title="Ring chromosome">Ring chromosome</a> <ul><li><a href="/w/index.php?title=Ring_chromosome_6&action=edit&redlink=1" class="new" title="Ring chromosome 6 (page does not exist)">6</a>; <a href="/w/index.php?title=Ring_chromosome_9&action=edit&redlink=1" class="new" title="Ring chromosome 9 (page does not exist)">9</a>; <a href="/wiki/Ring_chromosome_14_syndrome" title="Ring chromosome 14 syndrome">14</a>; <a href="/wiki/Ring_chromosome_15" title="Ring chromosome 15">15</a>; <a href="/wiki/Ring_chromosome_18" title="Ring chromosome 18">18</a>; <a href="/wiki/Ring_chromosome_20_syndrome" title="Ring chromosome 20 syndrome">20</a>; <a href="/w/index.php?title=Ring_chromosome_21&action=edit&redlink=1" class="new" title="Ring chromosome 21 (page does not exist)">21</a>, <a href="/wiki/Ring_chromosome_22" title="Ring chromosome 22">22</a></li></ul></li></ul> </div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox" aria-labelledby="Disability" style="padding:3px"><table class="nowraplinks mw-collapsible autocollapse navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="col" class="navbox-title" colspan="2" style="background-color: #bbbbff; box-shadow: inset 1px 1px 0 #000055, inset -1px -1px 0 #000055;;"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1239400231"><div class="navbar plainlinks hlist navbar-mini"><ul><li class="nv-view"><a href="/wiki/Template:Disability_navbox" title="Template:Disability navbox"><abbr title="View this template">v</abbr></a></li><li class="nv-talk"><a href="/wiki/Template_talk:Disability_navbox" title="Template talk:Disability navbox"><abbr title="Discuss this template">t</abbr></a></li><li class="nv-edit"><a href="/wiki/Special:EditPage/Template:Disability_navbox" title="Special:EditPage/Template:Disability navbox"><abbr title="Edit this template">e</abbr></a></li></ul></div><div id="Disability" style="font-size:114%;margin:0 4em"><a href="/wiki/Disability" title="Disability">Disability</a></div></th></tr><tr><th scope="row" class="navbox-group" style="background-color: #bbbbff; box-shadow: inset 1px 1px 0 #000055, inset -1px -1px 0 #000055;;;width:1%">Main topics</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Disability" title="Disability">Disability</a></li> <li><a href="/wiki/Disability_studies" title="Disability studies">Disability studies</a></li> <li><a href="/wiki/Medical_model_of_disability" title="Medical model of disability">Medical model</a></li> <li><a href="/wiki/Social_model_of_disability" title="Social model of disability">Social model</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="background-color: #bbbbff; box-shadow: inset 1px 1px 0 #000055, inset -1px -1px 0 #000055;;;width:1%">Approaches</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Individualized_Education_Program" title="Individualized Education Program">IEP</a></li> <li><a href="/wiki/Inclusion_(disability_rights)" title="Inclusion (disability rights)">Inclusion</a></li> <li><a href="/wiki/Learning_disability" title="Learning disability">Learning disability</a></li> <li><a href="/wiki/Mainstreaming_(education)" title="Mainstreaming (education)">Mainstreaming</a></li> <li><a href="/wiki/Physical_therapy" title="Physical therapy">Physical therapy</a> <ul><li><a href="/wiki/Driver_rehabilitation" title="Driver rehabilitation">driver rehabilitation</a></li></ul></li> <li><a href="/wiki/Special_needs" title="Special needs">Special needs</a> <ul><li><a href="/wiki/Special_school" class="mw-redirect" title="Special school">school</a></li> <li><a href="/wiki/Special_education" title="Special education">education</a></li></ul></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="background-color: #bbbbff; box-shadow: inset 1px 1px 0 #000055, inset -1px -1px 0 #000055;;;width:1%">Rights, law, support</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"></div><table class="nowraplinks navbox-subgroup" style="border-spacing:0"><tbody><tr><th scope="row" class="navbox-group" style="width:1%">Rights</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Ableism" title="Ableism">Ableism/disablism</a></li> <li><a href="/wiki/Disability_rights_movement" title="Disability rights movement">Disability rights</a></li> <li><a href="/wiki/List_of_disability-related_terms_that_developed_negative_connotations" class="mw-redirect" title="List of disability-related terms that developed negative connotations">Pejorative terms</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Law</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Accessibility_for_Ontarians_with_Disabilities_Act,_2005" title="Accessibility for Ontarians with Disabilities Act, 2005">AODA</a></li> <li><a href="/wiki/Americans_with_Disabilities_Act_of_1990" title="Americans with Disabilities Act of 1990">ADA</a></li> <li><a href="/wiki/Convention_on_the_Rights_of_Persons_with_Disabilities" title="Convention on the Rights of Persons with Disabilities">Convention on the Rights of Persons with Disabilities</a></li> <li><a href="/wiki/Declaration_on_the_Rights_of_Disabled_Persons" title="Declaration on the Rights of Disabled Persons">Declaration on the Rights of Disabled Persons</a></li> <li><a href="/wiki/International_Classification_of_Functioning,_Disability_and_Health" title="International Classification of Functioning, Disability and Health">International Classification of Functioning, Disability and Health</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Services</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Services_for_mental_disorders" title="Services for mental disorders">Services for mental disorders</a></li> <li><a href="/wiki/Services_and_supports_for_people_with_disabilities" title="Services and supports for people with disabilities">Services for disabled people</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Support</th><td class="navbox-list-with-group navbox-list navbox-even" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Disability_Living_Allowance" title="Disability Living Allowance">DLA</a></li> <li><a href="/wiki/Ontario_Disability_Support_Program" title="Ontario Disability Support Program">ODSP</a></li> <li><a href="/wiki/Disabled_Persons_Railcard" title="Disabled Persons Railcard">Rail</a></li> <li><a href="/wiki/Social_Security_Disability_Insurance" title="Social Security Disability Insurance">SSDI</a></li> <li><a href="/wiki/Supplemental_Security_Income" title="Supplemental Security Income">SSI</a></li> <li><a href="/wiki/Disabled_students_allowance" class="mw-redirect" title="Disabled students allowance">Students</a></li> <li><a href="/wiki/CNIB_Foundation" title="CNIB Foundation">CNIB</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="width:1%">Activist groups</th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Council_for_Canadians_with_Disabilities" title="Council for Canadians with Disabilities">CCD</a></li> <li><a href="/wiki/Disabled_Peoples%27_International" title="Disabled Peoples' International">DPI</a></li> <li><a href="/wiki/Movement_for_the_Intellectually_Disabled_of_Singapore" title="Movement for the Intellectually Disabled of Singapore">MINDS</a></li> <li><a href="/wiki/Reach_Canada" title="Reach Canada">Reach Canada</a></li></ul> </div></td></tr></tbody></table><div></div></td></tr><tr><th scope="row" class="navbox-group" style="background-color: #bbbbff; box-shadow: inset 1px 1px 0 #000055, inset -1px -1px 0 #000055;;;width:1%">Structural and assistive</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Accessible_toilet" title="Accessible toilet">Accessible toilet</a></li> <li><a href="/wiki/Activities_of_daily_living" title="Activities of daily living">Activities of daily living</a></li> <li><a href="/wiki/Assistive_technology" title="Assistive technology">Assistive technology</a></li> <li><a href="/wiki/Independent_living" title="Independent living">Independent living</a></li> <li><a href="/wiki/Mobility_aid" title="Mobility aid">Mobility aid</a></li> <li><a href="/wiki/Orthotics" title="Orthotics">Orthotics and braces</a></li> <li><a href="/wiki/Unlicensed_assistive_personnel" title="Unlicensed assistive personnel">Personal Care Assistant</a></li> <li><a href="/wiki/Accessibility" title="Accessibility">Physical accessibility</a></li> <li><a href="/wiki/Prosthesis" title="Prosthesis">Prosthetics</a></li> <li><a href="/wiki/Universal_design" title="Universal design">Universal design</a></li> <li><a href="/wiki/Web_accessibility" title="Web accessibility">Web accessibility</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="background-color: #bbbbff; box-shadow: inset 1px 1px 0 #000055, inset -1px -1px 0 #000055;;;width:1%">Social issues</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Augmentative_and_alternative_communication" title="Augmentative and alternative communication">Augmentative and alternative communication</a></li> <li><a href="/wiki/Emotional_or_behavioral_disability" title="Emotional or behavioral disability">Emotional or behavioral disability</a></li> <li><a href="/wiki/Invisible_disability" title="Invisible disability">Invisible disability</a></li> <li><a href="/wiki/Disability_and_disasters" title="Disability and disasters">Disability and disasters</a></li> <li><a href="/wiki/Disability_and_LGBT_identities" class="mw-redirect" title="Disability and LGBT identities">Disability and LGBT identities</a></li> <li><a href="/wiki/Disability_and_religion" title="Disability and religion">Disability and religion</a></li> <li><a href="/wiki/Disability_and_poverty" title="Disability and poverty">Disability and poverty</a></li> <li><a href="/wiki/Disproportionality_in_special_education" title="Disproportionality in special education">Disproportionality in special education</a></li> <li><a href="/wiki/Sexuality_and_disability" title="Sexuality and disability">Sexuality and disability</a></li> <li><a href="/wiki/Youth_and_disability" title="Youth and disability">Youth and disability</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="background-color: #bbbbff; box-shadow: inset 1px 1px 0 #000055, inset -1px -1px 0 #000055;;;width:1%">Disability studies</th><td class="navbox-list-with-group navbox-list navbox-even hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Models_of_disability" title="Models of disability">Models of disability</a></li> <li><a href="/wiki/Inspiration_porn" title="Inspiration porn">Inspiration porn</a></li> <li><a href="/wiki/Bodymind_(disability_studies)" title="Bodymind (disability studies)">Bodymind</a></li> <li><a href="/wiki/Crip_(disability_term)#Crip_theory" title="Crip (disability term)">Crip as verb</a></li> <li><a href="/wiki/Neuroqueer_theory" title="Neuroqueer theory">Neuroqueer theory</a></li> <li><a href="/wiki/Deaf_studies" title="Deaf studies">Deaf studies</a></li> <li><a href="/wiki/Eugenics" title="Eugenics">Eugenics</a></li> <li><a href="/wiki/Disability_anthropology" title="Disability anthropology">Anthropology</a></li> <li><a href="/wiki/Geography_of_disability" title="Geography of disability">Geography</a></li> <li><a href="/wiki/Disability_studies_in_education" title="Disability studies in education">Education</a></li> <li><a href="/wiki/List_of_disability_studies_journals" title="List of disability studies journals">Journals</a></li></ul> </div></td></tr><tr><th scope="row" class="navbox-group" style="background-color: #bbbbff; box-shadow: inset 1px 1px 0 #000055, inset -1px -1px 0 #000055;;;width:1%">Arts, media, culture, sport</th><td class="navbox-list-with-group navbox-list navbox-odd hlist" style="width:100%;padding:0"><div style="padding:0 0.25em"> <ul><li><a href="/wiki/Disability_culture" title="Disability culture">Disability culture</a></li> <li><a href="/wiki/Disability_art" title="Disability art">Disability art</a></li> <li><a href="/wiki/Disability_in_the_arts" title="Disability in the arts">Disability in the arts</a> <ul><li><a href="/wiki/Disability_in_children%27s_literature" title="Disability in children's literature">Disability in children's literature</a></li> <li><a href="/wiki/Disability_in_horror_films" title="Disability in horror films">Disability in horror films</a></li></ul></li> <li><a href="/wiki/Disability_in_the_media" title="Disability in the media">Disability in the media</a></li> <li><a href="/wiki/Parasports" title="Parasports">Parasports</a> <ul><li><a href="/wiki/Deaflympics" title="Deaflympics">Deaflympics</a></li> <li><a href="/wiki/Paralympic_Games" title="Paralympic Games">Paralympics</a></li> <li><a href="/wiki/Special_Olympics" title="Special Olympics">Special Olympics</a></li></ul></li></ul> </div></td></tr><tr><td class="navbox-abovebelow hlist" colspan="2" style="background-color: #bbbbff; box-shadow: inset 1px 1px 0 #000055, inset -1px -1px 0 #000055;;"><div> <ul><li><span class="noviewer" typeof="mw:File"><span title="Category"><img alt="" src="//upload.wikimedia.org/wikipedia/en/thumb/9/96/Symbol_category_class.svg/16px-Symbol_category_class.svg.png" decoding="async" width="16" height="16" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/9/96/Symbol_category_class.svg/23px-Symbol_category_class.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/9/96/Symbol_category_class.svg/31px-Symbol_category_class.svg.png 2x" data-file-width="180" data-file-height="185" /></span></span> <a href="/wiki/Category:Disability" title="Category:Disability">Category</a></li> <li><span class="noviewer" typeof="mw:File"><span title="List-Class article"><img alt="" src="//upload.wikimedia.org/wikipedia/en/thumb/d/db/Symbol_list_class.svg/16px-Symbol_list_class.svg.png" decoding="async" width="16" height="16" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/d/db/Symbol_list_class.svg/23px-Symbol_list_class.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/d/db/Symbol_list_class.svg/31px-Symbol_list_class.svg.png 2x" data-file-width="180" data-file-height="185" /></span></span> <a href="/wiki/Category:Disability-related_lists" title="Category:Disability-related lists">Lists</a></li></ul> </div></td></tr></tbody></table></div> <div class="navbox-styles"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1129693374"><link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r1236075235"></div><div role="navigation" class="navbox authority-control" aria-label="Navbox" style="padding:3px"><table class="nowraplinks hlist navbox-inner" style="border-spacing:0;background:transparent;color:inherit"><tbody><tr><th scope="row" class="navbox-group" style="width:1%"><a href="/wiki/Help:Authority_control" title="Help:Authority control">Authority control databases</a>: National <span class="mw-valign-text-top noprint" typeof="mw:File/Frameless"><a href="https://www.wikidata.org/wiki/Q525642#identifiers" title="Edit this at Wikidata"><img alt="Edit this at Wikidata" src="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/10px-OOjs_UI_icon_edit-ltr-progressive.svg.png" decoding="async" width="10" height="10" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/15px-OOjs_UI_icon_edit-ltr-progressive.svg.png 1.5x, //upload.wikimedia.org/wikipedia/en/thumb/8/8a/OOjs_UI_icon_edit-ltr-progressive.svg/20px-OOjs_UI_icon_edit-ltr-progressive.svg.png 2x" data-file-width="20" data-file-height="20" /></a></span></th><td class="navbox-list-with-group navbox-list navbox-odd" style="width:100%;padding:0"><div style="padding:0 0.25em"><ul><li><span class="uid"><a rel="nofollow" class="external text" href="https://id.loc.gov/authorities/sh2005005439">United States</a></span></li><li><span class="uid"><a rel="nofollow" class="external text" href="http://olduli.nli.org.il/F/?func=find-b&local_base=NLX10&find_code=UID&request=987007563901705171">Israel</a></span></li></ul></div></td></tr></tbody></table></div>    </div><noscript><img src="https://login.wikimedia.org/wiki/Special:CentralAutoLogin/start?type=1x1" alt="" width="1" height="1" style="border: none; position: absolute;"></noscript> <div class="printfooter" data-nosnippet="">Retrieved from "<a dir="ltr" href="https://en.wikipedia.org/w/index.php?title=DiGeorge_syndrome&oldid=1233227644">https://en.wikipedia.org/w/index.php?title=DiGeorge_syndrome&oldid=1233227644</a>"</div></div> <div id="catlinks" class="catlinks" data-mw="interface"><div id="mw-normal-catlinks" class="mw-normal-catlinks"><a href="/wiki/Help:Category" title="Help:Category">Categories</a>: <ul><li><a href="/wiki/Category:Autosomal_dominant_disorders" title="Category:Autosomal dominant disorders">Autosomal dominant disorders</a></li><li><a href="/wiki/Category:IUIS-PID_table_3_immunodeficiencies" title="Category:IUIS-PID table 3 immunodeficiencies">IUIS-PID table 3 immunodeficiencies</a></li><li><a href="/wiki/Category:Noninfectious_immunodeficiency-related_cutaneous_conditions" title="Category:Noninfectious immunodeficiency-related cutaneous conditions">Noninfectious immunodeficiency-related cutaneous conditions</a></li><li><a href="/wiki/Category:Syndromes_affecting_the_heart" title="Category:Syndromes affecting the heart">Syndromes affecting the heart</a></li><li><a href="/wiki/Category:Autosomal_monosomies_and_deletions" title="Category:Autosomal monosomies and deletions">Autosomal monosomies and deletions</a></li><li><a href="/wiki/Category:Genetic_anomalies" title="Category:Genetic anomalies">Genetic anomalies</a></li><li><a href="/wiki/Category:Syndromes_affecting_teeth" title="Category:Syndromes affecting teeth">Syndromes affecting teeth</a></li><li><a href="/wiki/Category:Syndromic_autism" title="Category:Syndromic autism">Syndromic autism</a></li><li><a href="/wiki/Category:Syndromes_with_craniofacial_abnormalities" title="Category:Syndromes with craniofacial abnormalities">Syndromes with craniofacial abnormalities</a></li><li><a href="/wiki/Category:Medical_mnemonics" title="Category:Medical mnemonics">Medical mnemonics</a></li></ul></div><div id="mw-hidden-catlinks" class="mw-hidden-catlinks mw-hidden-cats-hidden">Hidden categories: <ul><li><a href="/wiki/Category:All_pages_needing_factual_verification" title="Category:All pages needing factual verification">All pages needing factual verification</a></li><li><a href="/wiki/Category:Wikipedia_articles_needing_factual_verification_from_April_2015" title="Category:Wikipedia articles needing factual verification from April 2015">Wikipedia articles needing factual verification from April 2015</a></li><li><a href="/wiki/Category:CS1:_long_volume_value" title="Category:CS1: long volume value">CS1: long volume value</a></li><li><a href="/wiki/Category:Articles_with_short_description" title="Category:Articles with short description">Articles with short description</a></li><li><a href="/wiki/Category:Short_description_is_different_from_Wikidata" title="Category:Short description is different from Wikidata">Short description is different from Wikidata</a></li><li><a href="/wiki/Category:All_articles_with_unsourced_statements" title="Category:All articles with unsourced statements">All articles with unsourced statements</a></li><li><a href="/wiki/Category:Articles_with_unsourced_statements_from_May_2022" title="Category:Articles with unsourced statements from May 2022">Articles with unsourced statements from May 2022</a></li><li><a href="/wiki/Category:Articles_contradicting_other_articles" title="Category:Articles contradicting other articles">Articles contradicting other articles</a></li><li><a href="/wiki/Category:Pages_with_plain_IPA" title="Category:Pages with plain IPA">Pages with plain IPA</a></li><li><a href="/wiki/Category:Articles_with_unsourced_statements_from_September_2023" title="Category:Articles with unsourced statements from September 2023">Articles with unsourced statements from September 2023</a></li><li><a href="/wiki/Category:Articles_with_unsourced_statements_from_June_2017" title="Category:Articles with unsourced statements from June 2017">Articles with unsourced statements from June 2017</a></li><li><a href="/wiki/Category:Commons_category_link_from_Wikidata" title="Category:Commons category link from Wikidata">Commons category link from Wikidata</a></li><li><a href="/wiki/Category:Wikipedia_medicine_articles_ready_to_translate" title="Category:Wikipedia medicine articles ready to translate">Wikipedia medicine articles ready to translate</a></li></ul></div></div> </div> </main> </div> <div class="mw-footer-container"> <footer id="footer" class="mw-footer" > <ul id="footer-info"> <li id="footer-info-lastmod"> This page was last edited on 7 July 2024, at 23:49<span class="anonymous-show"> (UTC)</span>.</li> <li id="footer-info-copyright">Text is available under the <a href="/wiki/Wikipedia:Text_of_the_Creative_Commons_Attribution-ShareAlike_4.0_International_License" title="Wikipedia:Text of the Creative Commons Attribution-ShareAlike 4.0 International License">Creative Commons Attribution-ShareAlike 4.0 License</a>; additional terms may apply. By using this site, you agree to the <a href="https://foundation.wikimedia.org/wiki/Special:MyLanguage/Policy:Terms_of_Use" class="extiw" title="foundation:Special:MyLanguage/Policy:Terms of Use">Terms of Use</a> and <a href="https://foundation.wikimedia.org/wiki/Special:MyLanguage/Policy:Privacy_policy" class="extiw" title="foundation:Special:MyLanguage/Policy:Privacy policy">Privacy Policy</a>. Wikipedia® is a registered trademark of the <a rel="nofollow" class="external text" href="https://wikimediafoundation.org/">Wikimedia Foundation, Inc.</a>, a non-profit organization.</li> </ul> <ul id="footer-places"> <li id="footer-places-privacy"><a href="https://foundation.wikimedia.org/wiki/Special:MyLanguage/Policy:Privacy_policy">Privacy policy</a></li> <li id="footer-places-about"><a href="/wiki/Wikipedia:About">About Wikipedia</a></li> <li id="footer-places-disclaimers"><a href="/wiki/Wikipedia:General_disclaimer">Disclaimers</a></li> <li id="footer-places-contact"><a href="//en.wikipedia.org/wiki/Wikipedia:Contact_us">Contact Wikipedia</a></li> <li id="footer-places-wm-codeofconduct"><a href="https://foundation.wikimedia.org/wiki/Special:MyLanguage/Policy:Universal_Code_of_Conduct">Code of Conduct</a></li> <li id="footer-places-developers"><a href="https://developer.wikimedia.org">Developers</a></li> <li id="footer-places-statslink"><a href="https://stats.wikimedia.org/#/en.wikipedia.org">Statistics</a></li> <li id="footer-places-cookiestatement"><a href="https://foundation.wikimedia.org/wiki/Special:MyLanguage/Policy:Cookie_statement">Cookie statement</a></li> <li id="footer-places-mobileview"><a href="//en.m.wikipedia.org/w/index.php?title=DiGeorge_syndrome&mobileaction=toggle_view_mobile" class="noprint stopMobileRedirectToggle">Mobile view</a></li> </ul> <ul id="footer-icons" class="noprint"> <li id="footer-copyrightico"><a href="https://wikimediafoundation.org/" class="cdx-button cdx-button--fake-button cdx-button--size-large cdx-button--fake-button--enabled"><img src="/static/images/footer/wikimedia-button.svg" width="84" height="29" alt="Wikimedia Foundation" loading="lazy"></a></li> <li id="footer-poweredbyico"><a href="https://www.mediawiki.org/" class="cdx-button cdx-button--fake-button cdx-button--size-large cdx-button--fake-button--enabled"><img src="/w/resources/assets/poweredby_mediawiki.svg" alt="Powered by MediaWiki" width="88" height="31" loading="lazy"></a></li> </ul> </footer> </div> </div> </div> <div class="vector-settings" id="p-dock-bottom"> <ul></ul> </div><script>(RLQ=window.RLQ||[]).push(function(){mw.config.set({"wgHostname":"mw-web.codfw.main-f69cdc8f6-9s56p","wgBackendResponseTime":153,"wgPageParseReport":{"limitreport":{"cputime":"1.384","walltime":"1.680","ppvisitednodes":{"value":6909,"limit":1000000},"postexpandincludesize":{"value":325645,"limit":2097152},"templateargumentsize":{"value":14456,"limit":2097152},"expansiondepth":{"value":14,"limit":100},"expensivefunctioncount":{"value":5,"limit":500},"unstrip-depth":{"value":1,"limit":20},"unstrip-size":{"value":320499,"limit":5000000},"entityaccesscount":{"value":1,"limit":400},"timingprofile":["100.00% 1435.242 1 -total"," 39.80% 571.248 1 Template:Reflist"," 21.58% 309.793 11 Template:Navbox"," 20.31% 291.493 46 Template:Cite_journal"," 17.24% 247.433 1 Template:Medical_resources"," 14.05% 201.667 2 Template:Hlist"," 9.98% 143.236 2 Template:Short_description"," 9.17% 131.666 6 Template:Cite_book"," 8.61% 123.635 1 Template:ICD11"," 6.52% 93.564 1 Template:Infobox_medical_condition_(new)"]},"scribunto":{"limitreport-timeusage":{"value":"0.867","limit":"10.000"},"limitreport-memusage":{"value":21803854,"limit":52428800}},"cachereport":{"origin":"mw-web.codfw.main-f69cdc8f6-7ztkk","timestamp":"20241122152738","ttl":2592000,"transientcontent":false}}});});</script> <script type="application/ld+json">{"@context":"https:\/\/schema.org","@type":"Article","name":"DiGeorge syndrome","url":"https:\/\/en.wikipedia.org\/wiki\/DiGeorge_syndrome","sameAs":"http:\/\/www.wikidata.org\/entity\/Q525642","mainEntity":"http:\/\/www.wikidata.org\/entity\/Q525642","author":{"@type":"Organization","name":"Contributors to Wikimedia projects"},"publisher":{"@type":"Organization","name":"Wikimedia Foundation, Inc.","logo":{"@type":"ImageObject","url":"https:\/\/www.wikimedia.org\/static\/images\/wmf-hor-googpub.png"}},"datePublished":"2001-08-03T23:19:34Z","dateModified":"2024-07-07T23:49:14Z","image":"https:\/\/upload.wikimedia.org\/wikipedia\/commons\/c\/cb\/DiGeorge_syndrome1.jpg","headline":"T cell deficiency disease that is the result of a large deletion of chromosome 22, which includes the DGS gene needed for development of the thymus and related glands with subsequent lack of T-cell production"}</script> </body> </html>