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Chromosome 21 humain — Wikipédia

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id="toc-Maladies_chromosomiques_décrites_du_chromosome" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Maladies_chromosomiques_décrites_du_chromosome"> <div class="vector-toc-text"> <span class="vector-toc-numb">2</span> <span>Maladies chromosomiques décrites du chromosome</span> </div> </a> <ul id="toc-Maladies_chromosomiques_décrites_du_chromosome-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Gènes_localisés_sur_le_chromosome_21" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Gènes_localisés_sur_le_chromosome_21"> <div class="vector-toc-text"> <span class="vector-toc-numb">3</span> <span>Gènes localisés sur le chromosome 21</span> </div> </a> <ul id="toc-Gènes_localisés_sur_le_chromosome_21-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Maladies_localisées_sur_le_chromosome_21" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Maladies_localisées_sur_le_chromosome_21"> <div class="vector-toc-text"> <span class="vector-toc-numb">4</span> <span>Maladies localisées sur le chromosome 21</span> </div> </a> <ul id="toc-Maladies_localisées_sur_le_chromosome_21-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Les_autres_chromosomes" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Les_autres_chromosomes"> <div class="vector-toc-text"> <span class="vector-toc-numb">5</span> <span>Les autres chromosomes</span> </div> </a> <ul id="toc-Les_autres_chromosomes-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Notes_et_références" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Notes_et_références"> <div class="vector-toc-text"> <span class="vector-toc-numb">6</span> <span>Notes et références</span> </div> </a> <ul id="toc-Notes_et_références-sublist" class="vector-toc-list"> </ul> </li> <li id="toc-Liens_externes" class="vector-toc-list-item vector-toc-level-1 vector-toc-list-item-expanded"> <a class="vector-toc-link" href="#Liens_externes"> <div class="vector-toc-text"> <span class="vector-toc-numb">7</span> <span>Liens externes</span> </div> </a> <ul id="toc-Liens_externes-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="Sommaire" 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="Basculer la table des matières" > <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">Basculer la table des matières</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">Chromosome 21 humain</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="Aller à un article dans une autre langue. Disponible en 31 langues." > <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-31" 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">31 langues</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/%D8%B5%D8%A8%D8%BA%D9%8A_21" title="صبغي 21 – arabe" lang="ar" hreflang="ar" data-title="صبغي 21" data-language-autonym="العربية" data-language-local-name="arabe" class="interlanguage-link-target"><span>العربية</span></a></li><li class="interlanguage-link interwiki-bn mw-list-item"><a href="https://bn.wikipedia.org/wiki/%E0%A7%A8%E0%A7%A7_%E0%A6%A8%E0%A6%82_%E0%A6%95%E0%A7%8D%E0%A6%B0%E0%A7%8B%E0%A6%AE%E0%A7%8B%E0%A6%9C%E0%A7%8B%E0%A6%AE_(%E0%A6%AE%E0%A6%BE%E0%A6%A8%E0%A6%AC%E0%A6%A6%E0%A7%87%E0%A6%B9)" title="২১ নং ক্রোমোজোম (মানবদেহ) – bengali" lang="bn" hreflang="bn" data-title="২১ নং ক্রোমোজোম (মানবদেহ)" data-language-autonym="বাংলা" data-language-local-name="bengali" class="interlanguage-link-target"><span>বাংলা</span></a></li><li class="interlanguage-link interwiki-bs mw-list-item"><a href="https://bs.wikipedia.org/wiki/Hromosom_21" title="Hromosom 21 – bosniaque" lang="bs" hreflang="bs" data-title="Hromosom 21" data-language-autonym="Bosanski" data-language-local-name="bosniaque" class="interlanguage-link-target"><span>Bosanski</span></a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/Cromosoma_21" title="Cromosoma 21 – catalan" lang="ca" hreflang="ca" data-title="Cromosoma 21" data-language-autonym="Català" data-language-local-name="catalan" class="interlanguage-link-target"><span>Català</span></a></li><li class="interlanguage-link interwiki-de mw-list-item"><a href="https://de.wikipedia.org/wiki/Chromosom_21_(Mensch)" title="Chromosom 21 (Mensch) – allemand" lang="de" hreflang="de" data-title="Chromosom 21 (Mensch)" data-language-autonym="Deutsch" data-language-local-name="allemand" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-en mw-list-item"><a href="https://en.wikipedia.org/wiki/Chromosome_21" title="Chromosome 21 – anglais" lang="en" hreflang="en" data-title="Chromosome 21" data-language-autonym="English" data-language-local-name="anglais" class="interlanguage-link-target"><span>English</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/Cromosoma_21_(humano)" title="Cromosoma 21 (humano) – espagnol" lang="es" hreflang="es" data-title="Cromosoma 21 (humano)" data-language-autonym="Español" data-language-local-name="espagnol" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-et mw-list-item"><a href="https://et.wikipedia.org/wiki/21._kromosoom" title="21. kromosoom – estonien" lang="et" hreflang="et" data-title="21. kromosoom" data-language-autonym="Eesti" data-language-local-name="estonien" class="interlanguage-link-target"><span>Eesti</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%DA%A9%D8%B1%D9%88%D9%85%D9%88%D8%B2%D9%88%D9%85_%DB%B2%DB%B1_(%D8%A7%D9%86%D8%B3%D8%A7%D9%86)" title="کروموزوم ۲۱ (انسان) – persan" lang="fa" hreflang="fa" data-title="کروموزوم ۲۱ (انسان)" data-language-autonym="فارسی" data-language-local-name="persan" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-gl mw-list-item"><a href="https://gl.wikipedia.org/wiki/Cromosoma_21" title="Cromosoma 21 – galicien" lang="gl" hreflang="gl" data-title="Cromosoma 21" data-language-autonym="Galego" data-language-local-name="galicien" class="interlanguage-link-target"><span>Galego</span></a></li><li class="interlanguage-link interwiki-hr mw-list-item"><a href="https://hr.wikipedia.org/wiki/Kromosom_21_(%C4%8Dovjek)" title="Kromosom 21 (čovjek) – croate" lang="hr" hreflang="hr" data-title="Kromosom 21 (čovjek)" data-language-autonym="Hrvatski" data-language-local-name="croate" class="interlanguage-link-target"><span>Hrvatski</span></a></li><li class="interlanguage-link interwiki-hu mw-list-item"><a href="https://hu.wikipedia.org/wiki/Hum%C3%A1n_21-es_kromosz%C3%B3ma" title="Humán 21-es kromoszóma – hongrois" lang="hu" hreflang="hu" data-title="Humán 21-es kromoszóma" data-language-autonym="Magyar" data-language-local-name="hongrois" class="interlanguage-link-target"><span>Magyar</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Cromosoma_21" title="Cromosoma 21 – italien" lang="it" hreflang="it" data-title="Cromosoma 21" data-language-autonym="Italiano" data-language-local-name="italien" class="interlanguage-link-target"><span>Italiano</span></a></li><li class="interlanguage-link interwiki-ja mw-list-item"><a href="https://ja.wikipedia.org/wiki/21%E7%95%AA%E6%9F%93%E8%89%B2%E4%BD%93_(%E3%83%92%E3%83%88)" title="21番染色体 (ヒト) – japonais" lang="ja" hreflang="ja" data-title="21番染色体 (ヒト)" data-language-autonym="日本語" data-language-local-name="japonais" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-la mw-list-item"><a href="https://la.wikipedia.org/wiki/Chromosoma_21_(homo)" title="Chromosoma 21 (homo) – latin" lang="la" hreflang="la" data-title="Chromosoma 21 (homo)" data-language-autonym="Latina" data-language-local-name="latin" class="interlanguage-link-target"><span>Latina</span></a></li><li class="interlanguage-link interwiki-nl mw-list-item"><a href="https://nl.wikipedia.org/wiki/Chromosoom_21" title="Chromosoom 21 – néerlandais" lang="nl" hreflang="nl" data-title="Chromosoom 21" data-language-autonym="Nederlands" data-language-local-name="néerlandais" class="interlanguage-link-target"><span>Nederlands</span></a></li><li class="interlanguage-link interwiki-no mw-list-item"><a href="https://no.wikipedia.org/wiki/Kromosom_21" title="Kromosom 21 – norvégien bokmål" lang="nb" hreflang="nb" data-title="Kromosom 21" data-language-autonym="Norsk bokmål" data-language-local-name="norvégien bokmål" class="interlanguage-link-target"><span>Norsk bokmål</span></a></li><li class="interlanguage-link interwiki-pl mw-list-item"><a href="https://pl.wikipedia.org/wiki/Chromosom_21" title="Chromosom 21 – polonais" lang="pl" hreflang="pl" data-title="Chromosom 21" data-language-autonym="Polski" data-language-local-name="polonais" 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/Cromossoma_21" title="Cromossoma 21 – portugais" lang="pt" hreflang="pt" data-title="Cromossoma 21" data-language-autonym="Português" data-language-local-name="portugais" class="interlanguage-link-target"><span>Português</span></a></li><li class="interlanguage-link interwiki-ro mw-list-item"><a href="https://ro.wikipedia.org/wiki/Cromozomul_uman_21" title="Cromozomul uman 21 – roumain" lang="ro" hreflang="ro" data-title="Cromozomul uman 21" data-language-autonym="Română" data-language-local-name="roumain" class="interlanguage-link-target"><span>Română</span></a></li><li class="interlanguage-link interwiki-ru mw-list-item"><a href="https://ru.wikipedia.org/wiki/21-%D1%8F_%D1%85%D1%80%D0%BE%D0%BC%D0%BE%D1%81%D0%BE%D0%BC%D0%B0_%D1%87%D0%B5%D0%BB%D0%BE%D0%B2%D0%B5%D0%BA%D0%B0" title="21-я хромосома человека – russe" lang="ru" hreflang="ru" data-title="21-я хромосома человека" data-language-autonym="Русский" data-language-local-name="russe" class="interlanguage-link-target"><span>Русский</span></a></li><li class="interlanguage-link interwiki-sh mw-list-item"><a href="https://sh.wikipedia.org/wiki/Hromozom_21_(%C4%8Dovek)" title="Hromozom 21 (čovek) – serbo-croate" lang="sh" hreflang="sh" data-title="Hromozom 21 (čovek)" data-language-autonym="Srpskohrvatski / српскохрватски" data-language-local-name="serbo-croate" class="interlanguage-link-target"><span>Srpskohrvatski / српскохрватски</span></a></li><li class="interlanguage-link interwiki-simple mw-list-item"><a href="https://simple.wikipedia.org/wiki/Chromosome_21" title="Chromosome 21 – Simple English" lang="en-simple" hreflang="en-simple" data-title="Chromosome 21" 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%A5%D1%80%D0%BE%D0%BC%D0%BE%D0%B7%D0%BE%D0%BC_21_(%D1%87%D0%BE%D0%B2%D0%B5%D0%BA)" title="Хромозом 21 (човек) – serbe" lang="sr" hreflang="sr" data-title="Хромозом 21 (човек)" data-language-autonym="Српски / srpski" data-language-local-name="serbe" class="interlanguage-link-target"><span>Српски / srpski</span></a></li><li class="interlanguage-link interwiki-sv mw-list-item"><a href="https://sv.wikipedia.org/wiki/Kromosom_21" title="Kromosom 21 – suédois" lang="sv" hreflang="sv" data-title="Kromosom 21" data-language-autonym="Svenska" data-language-local-name="suédois" class="interlanguage-link-target"><span>Svenska</span></a></li><li class="interlanguage-link interwiki-tl mw-list-item"><a href="https://tl.wikipedia.org/wiki/Kromosomang_21_(tao)" title="Kromosomang 21 (tao) – tagalog" lang="tl" hreflang="tl" data-title="Kromosomang 21 (tao)" data-language-autonym="Tagalog" data-language-local-name="tagalog" class="interlanguage-link-target"><span>Tagalog</span></a></li><li class="interlanguage-link interwiki-tr mw-list-item"><a href="https://tr.wikipedia.org/wiki/Kromozom_21_(insan)" title="Kromozom 21 (insan) – turc" lang="tr" hreflang="tr" data-title="Kromozom 21 (insan)" data-language-autonym="Türkçe" data-language-local-name="turc" 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%A5%D1%80%D0%BE%D0%BC%D0%BE%D1%81%D0%BE%D0%BC%D0%B0_21_(%D0%BB%D1%8E%D0%B4%D0%B8%D0%BD%D0%B0)" title="Хромосома 21 (людина) – ukrainien" lang="uk" hreflang="uk" data-title="Хромосома 21 (людина)" data-language-autonym="Українська" data-language-local-name="ukrainien" 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/Nhi%E1%BB%85m_s%E1%BA%AFc_th%E1%BB%83_s%E1%BB%91_21" title="Nhiễm sắc thể số 21 – vietnamien" lang="vi" hreflang="vi" data-title="Nhiễm sắc thể số 21" data-language-autonym="Tiếng Việt" data-language-local-name="vietnamien" 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/21%E8%99%9F%E6%9F%93%E8%89%B2%E9%AB%94" title="21號染色體 – chinois" lang="zh" hreflang="zh" data-title="21號染色體" data-language-autonym="中文" data-language-local-name="chinois" class="interlanguage-link-target"><span>中文</span></a></li><li class="interlanguage-link interwiki-zh-min-nan mw-list-item"><a href="https://zh-min-nan.wikipedia.org/wiki/21_h%C5%8D_ji%C3%A1m-sek-th%C3%A9_(l%C3%A2ng)" title="21 hō jiám-sek-thé (lâng) – minnan" lang="nan" hreflang="nan" data-title="21 hō jiám-sek-thé (lâng)" data-language-autonym="閩南語 / Bân-lâm-gú" data-language-local-name="minnan" 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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">Apparence</div> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-pin-button" data-event-name="pinnable-header.vector-appearance.pin">déplacer vers la barre latérale</button> <button class="vector-pinnable-header-toggle-button vector-pinnable-header-unpin-button" data-event-name="pinnable-header.vector-appearance.unpin">masquer</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">Un article de Wikipédia, l&#039;encyclopédie libre.</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="fr" dir="ltr"><figure class="mw-default-size mw-halign-right" typeof="mw:File"><a href="/wiki/Fichier:Chromosome_21.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/7/7f/Chromosome_21.png" decoding="async" width="90" height="171" class="mw-file-element" data-file-width="90" data-file-height="171" /></a><figcaption></figcaption></figure> <p>Le <b>chromosome 21</b> est le plus petit des <span class="nowrap">23 paires</span> de <a href="/wiki/Chromosomes_humains" title="Chromosomes humains">chromosomes humains</a>. C'est un des <span class="nowrap">22 <a href="/wiki/Autosome" title="Autosome">autosomes</a></span> et l'un des cinq chromosomes acrocentriques. </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Caractéristiques_du_chromosome_21"><span id="Caract.C3.A9ristiques_du_chromosome_21"></span>Caractéristiques du chromosome 21</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Chromosome_21_humain&amp;veaction=edit&amp;section=1" title="Modifier la section : Caractéristiques du chromosome 21" class="mw-editsection-visualeditor"><span>modifier</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Chromosome_21_humain&amp;action=edit&amp;section=1" title="Modifier le code source de la section : Caractéristiques du chromosome 21"><span>modifier le code</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li>Nombre de <a href="/wiki/Paire_de_base" class="mw-redirect" title="Paire de base">paires de base</a>&#160;: 46&#160;944&#160;323</li> <li>Nombre de <a href="/wiki/G%C3%A8ne" title="Gène">gènes</a>&#160;: 271</li> <li>Nombre de gènes connus&#160;: 243</li> <li>Nombre de <a href="/wiki/Pseudog%C3%A8ne" title="Pseudogène">pseudogènes</a>&#160;: 87</li> <li>Nombre de variations des <a href="/wiki/Nucl%C3%A9otide" title="Nucléotide">nucléotides</a> (S.N.P ou single nucleotide polymorphisme)&#160;: 131&#160;740</li></ul> <div class="mw-heading mw-heading2"><h2 id="Maladies_chromosomiques_décrites_du_chromosome"><span id="Maladies_chromosomiques_d.C3.A9crites_du_chromosome"></span>Maladies chromosomiques décrites du chromosome</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Chromosome_21_humain&amp;veaction=edit&amp;section=2" title="Modifier la section : Maladies chromosomiques décrites du chromosome" class="mw-editsection-visualeditor"><span>modifier</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Chromosome_21_humain&amp;action=edit&amp;section=2" title="Modifier le code source de la section : Maladies chromosomiques décrites du chromosome"><span>modifier le code</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li>La <a href="/wiki/Trisomie_21" title="Trisomie 21">trisomie 21</a> (présence de trois chromosomes 21 au lieu de deux) est l'anomalie chromosomique la plus connue et la plus fréquente, responsable du <a href="/wiki/Syndrome_de_Down" class="mw-redirect" title="Syndrome de Down">syndrome de Down</a>.</li></ul> <div class="mw-heading mw-heading2"><h2 id="Gènes_localisés_sur_le_chromosome_21"><span id="G.C3.A8nes_localis.C3.A9s_sur_le_chromosome_21"></span>Gènes localisés sur le chromosome 21</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Chromosome_21_humain&amp;veaction=edit&amp;section=3" title="Modifier la section : Gènes localisés sur le chromosome 21" class="mw-editsection-visualeditor"><span>modifier</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Chromosome_21_humain&amp;action=edit&amp;section=3" title="Modifier le code source de la section : Gènes localisés sur le chromosome 21"><span>modifier le code</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li>gène SOD1 qui code la <a href="/wiki/SOD1" title="SOD1">superoxide dismutase [Cu-Zn]</a></li></ul> <div class="mw-heading mw-heading2"><h2 id="Maladies_localisées_sur_le_chromosome_21"><span id="Maladies_localis.C3.A9es_sur_le_chromosome_21"></span>Maladies localisées sur le chromosome 21</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Chromosome_21_humain&amp;veaction=edit&amp;section=4" title="Modifier la section : Maladies localisées sur le chromosome 21" class="mw-editsection-visualeditor"><span>modifier</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Chromosome_21_humain&amp;action=edit&amp;section=4" title="Modifier le code source de la section : Maladies localisées sur le chromosome 21"><span>modifier le code</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li>La nomenclature utilisée pour localiser un <a href="/wiki/G%C3%A8ne" title="Gène">gène</a> est décrite dans l'article de celui-ci</li> <li>Les maladies en rapport avec des anomalies génétiques localisées sur le chromosome 21 sont&#160;:</li></ul> <table width="100%" class="wikitable" style="page-break-before: always; page-break-inside: avoid"> <tbody><tr> <th colspan="6" style="background-color:#b3b3b3">Maladies localisées sur le chromosome 21 </th></tr> <tr style="background-color:#b3b3b3"> <td width="37%">Pathologie </td> <td width="10%">Transmission </td> <td width="9%">O.M.I.M </td> <td width="4%">Locus </td> <td width="10%">Gène </td> <td width="30%">Protéine codée par le gène </td></tr> <tr> <th colspan="6" style="background-color:#d3d3d3">Bras long </th></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>q23 </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>q23 </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td><a href="/wiki/Maladie_d%27Unverricht-Lundborg" title="Maladie d&#39;Unverricht-Lundborg">Maladie d'Unverricht-Lundborg</a> </td> <td><a href="/wiki/Transmission_autosomique_r%C3%A9cessive" title="Transmission autosomique récessive">Récessive</a> </td> <td>&#160; </td> <td>q22.3 </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td><a href="/wiki/Homocystinurie" title="Homocystinurie">Homocystinurie par déficit en cystathionine bêta-synthase</a> </td> <td><a href="/wiki/Transmission_autosomique_r%C3%A9cessive" title="Transmission autosomique récessive">Récessive</a> </td> <td>236200<sup id="cite_ref-1" class="reference"><a href="#cite_note-1"><span class="cite_crochet">[</span>1<span class="cite_crochet">]</span></a></sup> </td> <td>q22.3 </td> <td><a href="/w/index.php?title=CBS_(G%C3%A8ne)&amp;action=edit&amp;redlink=1" class="new" title="CBS (Gène) (page inexistante)">CBS</a> </td> <td>Cystathionine beta-synthase </td></tr> <tr> <td><a href="/wiki/Maladies_en_rapport_avec_le_collag%C3%A8ne_type_VI" class="mw-redirect" title="Maladies en rapport avec le collagène type VI">Myopathie de Bethlem</a> </td> <td><a href="/wiki/Transmission_autosomique_dominante" title="Transmission autosomique dominante">Dominante</a> </td> <td>158810<sup id="cite_ref-2" class="reference"><a href="#cite_note-2"><span class="cite_crochet">[</span>2<span class="cite_crochet">]</span></a></sup> </td> <td>q22.3 </td> <td><a href="/w/index.php?title=COL6A1_(G%C3%A8ne)&amp;action=edit&amp;redlink=1" class="new" title="COL6A1 (Gène) (page inexistante)">COL6A1</a>-<a href="/w/index.php?title=COL6A2_(G%C3%A8ne)&amp;action=edit&amp;redlink=1" class="new" title="COL6A2 (Gène) (page inexistante)">COL6A2</a> </td> <td>&#160; </td></tr> <tr> <td><a href="/wiki/Maladies_en_rapport_avec_le_collag%C3%A8ne_type_VI" class="mw-redirect" title="Maladies en rapport avec le collagène type VI">Dystrophie congénitale musculaire d'Ullrich</a> </td> <td><a href="/wiki/Transmission_autosomique_r%C3%A9cessive" title="Transmission autosomique récessive">Récessive</a> </td> <td>254090<sup id="cite_ref-3" class="reference"><a href="#cite_note-3"><span class="cite_crochet">[</span>3<span class="cite_crochet">]</span></a></sup> </td> <td>q22.3 </td> <td><a href="/w/index.php?title=COL6A1_(G%C3%A8ne)&amp;action=edit&amp;redlink=1" class="new" title="COL6A1 (Gène) (page inexistante)">COL6A1</a>-<a href="/w/index.php?title=COL6A2_(G%C3%A8ne)&amp;action=edit&amp;redlink=1" class="new" title="COL6A2 (Gène) (page inexistante)">COL6A2</a> </td> <td>&#160; </td></tr> <tr> <td><a href="/wiki/Syndrome_de_Romano-Ward" title="Syndrome de Romano-Ward">Syndrome de Romano-Ward</a> </td> <td><a href="/wiki/Transmission_autosomique_dominante" title="Transmission autosomique dominante">Dominante</a> </td> <td>&#160; </td> <td>q22.1 </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td><a href="/wiki/Syndrome_de_Jervell_et_Lange-Nielsen" title="Syndrome de Jervell et Lange-Nielsen">Syndrome de Jervell et Lange-Nielsen</a> </td> <td><a href="/wiki/Transmission_autosomique_r%C3%A9cessive" title="Transmission autosomique récessive">Récessive</a> </td> <td>220400<sup id="cite_ref-4" class="reference"><a href="#cite_note-4"><span class="cite_crochet">[</span>4<span class="cite_crochet">]</span></a></sup> </td> <td>q22 </td> <td><a href="/w/index.php?title=KCNE1(G%C3%A8ne)&amp;action=edit&amp;redlink=1" class="new" title="KCNE1(Gène) (page inexistante)">KCNE1</a> </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>q22 </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td><a href="/wiki/Syndrome_d%27Usher" title="Syndrome d&#39;Usher">Syndrome d'Usher type 1</a> </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>q21 </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>q13 </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>q12 </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>q11 </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <th colspan="6" style="background-color:#d3d3d3">Bras court </th></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>p11 </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>p12 </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>p13 </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr> <tr> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td> <td>&#160; </td></tr></tbody></table> <div class="mw-heading mw-heading2"><h2 id="Les_autres_chromosomes">Les autres chromosomes</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Chromosome_21_humain&amp;veaction=edit&amp;section=5" title="Modifier la section : Les autres chromosomes" class="mw-editsection-visualeditor"><span>modifier</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Chromosome_21_humain&amp;action=edit&amp;section=5" title="Modifier le code source de la section : Les autres chromosomes"><span>modifier le code</span></a><span class="mw-editsection-bracket">]</span></span></div> <table class="navbox collapsible noprint autocollapse" style=""> <tbody><tr><th class="navbox-title" colspan="2" style=""><div style="float:left; width:6em; text-align:left"><div class="noprint plainlinks nowrap tnavbar" style="padding:0; font-size:xx-small; color:var(--color-emphasized, #000000);"><a href="/wiki/Mod%C3%A8le:Palette_Chromosome_humain" title="Modèle:Palette Chromosome humain"><abbr class="abbr" title="Voir ce modèle.">v</abbr></a>&#160;· <a class="external text" href="https://fr.wikipedia.org/w/index.php?title=Mod%C3%A8le:Palette_Chromosome_humain&amp;action=edit"><abbr class="abbr" title="Modifier ce modèle. Merci de prévisualiser avant de sauvegarder.">m</abbr></a></div></div><div style="font-size:110%"><a href="/wiki/Chromosome" title="Chromosome">Chromosome</a> - <a href="/wiki/Chromosomes_humains" title="Chromosomes humains">Chromosome humain</a></div></th> </tr> <tr> <th class="navbox-group" style=""><a href="/wiki/Autosome" title="Autosome">Autosome</a></th> <td class="navbox-list" style="text-align:center;"><div class="liste-horizontale"> <ul><li><a href="/wiki/Chromosome_1_humain" title="Chromosome 1 humain">1</a></li> <li><a href="/wiki/Chromosome_2_humain" title="Chromosome 2 humain">2</a></li> <li><a href="/wiki/Chromosome_3_humain" title="Chromosome 3 humain">3</a></li> <li><a href="/wiki/Chromosome_4_humain" title="Chromosome 4 humain">4</a></li> <li><a href="/wiki/Chromosome_5_humain" title="Chromosome 5 humain">5</a></li> <li><a href="/wiki/Chromosome_6_humain" title="Chromosome 6 humain">6</a></li> <li><a href="/wiki/Chromosome_7_humain" title="Chromosome 7 humain">7</a></li> <li><a href="/wiki/Chromosome_8_humain" title="Chromosome 8 humain">8</a></li> <li><a href="/wiki/Chromosome_9_humain" title="Chromosome 9 humain">9</a></li> <li><a href="/wiki/Chromosome_10_humain" title="Chromosome 10 humain">10</a></li> <li><a href="/wiki/Chromosome_11_humain" title="Chromosome 11 humain">11</a></li> <li><a href="/wiki/Chromosome_12_humain" title="Chromosome 12 humain">12</a></li> <li><a href="/wiki/Chromosome_13_humain" title="Chromosome 13 humain">13</a></li> <li><a href="/wiki/Chromosome_14_humain" title="Chromosome 14 humain">14</a></li> <li><a href="/wiki/Chromosome_15_humain" title="Chromosome 15 humain">15</a></li> <li><a href="/wiki/Chromosome_16_humain" title="Chromosome 16 humain">16</a></li> <li><a href="/wiki/Chromosome_17_humain" title="Chromosome 17 humain">17</a></li> <li><a href="/wiki/Chromosome_18_humain" title="Chromosome 18 humain">18</a></li> <li><a href="/wiki/Chromosome_19_humain" title="Chromosome 19 humain">19</a></li> <li><a href="/wiki/Chromosome_20_humain" title="Chromosome 20 humain">20</a></li> <li><a class="mw-selflink selflink">21</a></li> <li><a href="/wiki/Chromosome_22_humain" title="Chromosome 22 humain">22</a></li></ul> </div></td> </tr> <tr> <th class="navbox-group" style=""><a href="/wiki/Gonosome" title="Gonosome">Chromosome sexuel</a></th> <td class="navbox-list navbox-even" style="text-align:center;"><div class="liste-horizontale"> <ul><li><a href="/wiki/Chromosome_X" title="Chromosome X">Chromosome X</a></li> <li><a href="/wiki/Chromosome_Y" title="Chromosome Y">Chromosome Y</a></li></ul> </div></td> </tr> </tbody></table> <div class="mw-heading mw-heading2"><h2 id="Notes_et_références"><span id="Notes_et_r.C3.A9f.C3.A9rences"></span>Notes et références</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Chromosome_21_humain&amp;veaction=edit&amp;section=6" title="Modifier la section : Notes et références" class="mw-editsection-visualeditor"><span>modifier</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Chromosome_21_humain&amp;action=edit&amp;section=6" title="Modifier le code source de la section : Notes et références"><span>modifier le code</span></a><span class="mw-editsection-bracket">]</span></span></div> <div class="references-small decimal" style=""><div class="mw-references-wrap"><ol class="references"> <li id="cite_note-1"><span class="mw-cite-backlink noprint"><a href="#cite_ref-1">↑</a> </span><span class="reference-text"><a href="/wiki/Universit%C3%A9_Johns-Hopkins" title="Université Johns-Hopkins">Université Johns-Hopkins</a>, <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/omim/236200">236200</a>, <i><a href="/wiki/H%C3%A9ritage_mend%C3%A9lien_chez_l%27humain" title="Héritage mendélien chez l&#39;humain">Héritage mendélien chez l'humain</a></i>.</span> </li> <li id="cite_note-2"><span class="mw-cite-backlink noprint"><a href="#cite_ref-2">↑</a> </span><span class="reference-text"><a href="/wiki/Universit%C3%A9_Johns-Hopkins" title="Université Johns-Hopkins">Université Johns-Hopkins</a>, <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/omim/158810">158810</a>, <i><a href="/wiki/H%C3%A9ritage_mend%C3%A9lien_chez_l%27humain" title="Héritage mendélien chez l&#39;humain">Héritage mendélien chez l'humain</a></i>.</span> </li> <li id="cite_note-3"><span class="mw-cite-backlink noprint"><a href="#cite_ref-3">↑</a> </span><span class="reference-text"><a href="/wiki/Universit%C3%A9_Johns-Hopkins" title="Université Johns-Hopkins">Université Johns-Hopkins</a>, <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/omim/254090">254090</a>, <i><a href="/wiki/H%C3%A9ritage_mend%C3%A9lien_chez_l%27humain" title="Héritage mendélien chez l&#39;humain">Héritage mendélien chez l'humain</a></i>.</span> </li> <li id="cite_note-4"><span class="mw-cite-backlink noprint"><a href="#cite_ref-4">↑</a> </span><span class="reference-text"><a href="/wiki/Universit%C3%A9_Johns-Hopkins" title="Université Johns-Hopkins">Université Johns-Hopkins</a>, <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/omim/220400">220400</a>, <i><a href="/wiki/H%C3%A9ritage_mend%C3%A9lien_chez_l%27humain" title="Héritage mendélien chez l&#39;humain">Héritage mendélien chez l'humain</a></i>.</span> </li> </ol></div> </div> <div class="mw-heading mw-heading2"><h2 id="Liens_externes">Liens externes</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Chromosome_21_humain&amp;veaction=edit&amp;section=7" title="Modifier la section : Liens externes" class="mw-editsection-visualeditor"><span>modifier</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Chromosome_21_humain&amp;action=edit&amp;section=7" title="Modifier le code source de la section : Liens externes"><span>modifier le code</span></a><span class="mw-editsection-bracket">]</span></span></div> <ul><li><abbr class="abbr indicateur-langue" title="Langue : anglais">(en)</abbr> <a rel="nofollow" class="external text" href="http://www.ensembl.org/"><i>Ensemble Genome Browser</i></a></li> <li><abbr class="abbr indicateur-langue" title="Langue : anglais">(en)</abbr> <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/entrez/query.fcgi?db=OMIM"><i>Online Mendelian Inheritance in Man</i></a>, OMIM (TM). <a href="/wiki/Universit%C3%A9_Johns-Hopkins" title="Université Johns-Hopkins">université Johns-Hopkins</a>, Baltimore, MD.</li></ul> <ul id="bandeau-portail" class="bandeau-portail"><li><span class="bandeau-portail-element"><span class="bandeau-portail-icone"><span class="noviewer" typeof="mw:File"><a href="/wiki/Portail:M%C3%A9decine" title="Portail de la médecine"><img alt="icône décorative" src="//upload.wikimedia.org/wikipedia/commons/thumb/5/5b/Star_of_life2.svg/24px-Star_of_life2.svg.png" decoding="async" width="24" height="24" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/5/5b/Star_of_life2.svg/36px-Star_of_life2.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/5/5b/Star_of_life2.svg/48px-Star_of_life2.svg.png 2x" data-file-width="192" data-file-height="192" /></a></span></span> <span class="bandeau-portail-texte"><a href="/wiki/Portail:M%C3%A9decine" title="Portail:Médecine">Portail de la médecine</a></span> </span></li> </ul> <!-- NewPP limit report Parsed by mw‐web.eqiad.main‐5695644f9d‐bvwd4 Cached time: 20241128001820 Cache expiry: 2592000 Reduced expiry: false Complications: [show‐toc] CPU time usage: 0.098 seconds Real time usage: 0.146 seconds Preprocessor visited node count: 607/1000000 Post‐expand include size: 12051/2097152 bytes Template argument size: 2763/2097152 bytes Highest expansion depth: 12/100 Expensive 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