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Fragiele-X-syndroom - Wikipedia

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data-event-name="ui.dropdown-vector-page-titlebar-toc" class="vector-dropdown-checkbox " aria-label="Inhoudsopgave omschakelen" > <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">Inhoudsopgave omschakelen</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">Fragiele-X-syndroom</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" 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Beschikbaar in 33 talen" > <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-33" 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">33 talen</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%A7%D9%84%D8%B5%D8%A8%D8%BA%D9%8A_X_%D8%A7%D9%84%D9%87%D8%B4" title="متلازمة الصبغي X الهش – Arabisch" lang="ar" hreflang="ar" data-title="متلازمة الصبغي X الهش" data-language-autonym="العربية" data-language-local-name="Arabisch" 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/Martin-Bell_sindromu" title="Martin-Bell sindromu – Azerbeidzjaans" lang="az" hreflang="az" data-title="Martin-Bell sindromu" data-language-autonym="Azərbaycanca" data-language-local-name="Azerbeidzjaans" class="interlanguage-link-target"><span>Azərbaycanca</span></a></li><li class="interlanguage-link interwiki-ca mw-list-item"><a href="https://ca.wikipedia.org/wiki/S%C3%ADndrome_X_fr%C3%A0gil" title="Síndrome X fràgil – Catalaans" lang="ca" hreflang="ca" data-title="Síndrome X fràgil" data-language-autonym="Català" data-language-local-name="Catalaans" class="interlanguage-link-target"><span>Català</span></a></li><li class="interlanguage-link interwiki-de badge-Q17437796 badge-featuredarticle mw-list-item" title="uitgelicht artikel"><a href="https://de.wikipedia.org/wiki/Fragiles-X-Syndrom" title="Fragiles-X-Syndrom – Duits" lang="de" hreflang="de" data-title="Fragiles-X-Syndrom" data-language-autonym="Deutsch" data-language-local-name="Duits" class="interlanguage-link-target"><span>Deutsch</span></a></li><li class="interlanguage-link interwiki-el mw-list-item"><a href="https://el.wikipedia.org/wiki/%CE%A3%CF%8D%CE%BD%CE%B4%CF%81%CE%BF%CE%BC%CE%BF_%CE%B5%CF%85%CE%B8%CF%81%CE%B1%CF%8D%CF%83%CF%84%CE%BF%CF%85_%CF%87%CF%81%CF%89%CE%BC%CE%BF%CF%84%CE%BF%CF%83%CF%8E%CE%BC%CE%B1%CF%84%CE%BF%CF%82_X" title="Σύνδρομο ευθραύστου χρωμοτοσώματος X – Grieks" lang="el" hreflang="el" data-title="Σύνδρομο ευθραύστου χρωμοτοσώματος X" data-language-autonym="Ελληνικά" data-language-local-name="Grieks" class="interlanguage-link-target"><span>Ελληνικά</span></a></li><li class="interlanguage-link interwiki-en mw-list-item"><a href="https://en.wikipedia.org/wiki/Fragile_X_syndrome" title="Fragile X syndrome – Engels" lang="en" hreflang="en" data-title="Fragile X syndrome" data-language-autonym="English" data-language-local-name="Engels" class="interlanguage-link-target"><span>English</span></a></li><li class="interlanguage-link interwiki-eo mw-list-item"><a href="https://eo.wikipedia.org/wiki/Fragila_X_sindromo" title="Fragila X sindromo – Esperanto" lang="eo" hreflang="eo" data-title="Fragila X sindromo" data-language-autonym="Esperanto" data-language-local-name="Esperanto" class="interlanguage-link-target"><span>Esperanto</span></a></li><li class="interlanguage-link interwiki-es mw-list-item"><a href="https://es.wikipedia.org/wiki/S%C3%ADndrome_X_fr%C3%A1gil" title="Síndrome X frágil – Spaans" lang="es" hreflang="es" data-title="Síndrome X frágil" data-language-autonym="Español" data-language-local-name="Spaans" class="interlanguage-link-target"><span>Español</span></a></li><li class="interlanguage-link interwiki-eu mw-list-item"><a href="https://eu.wikipedia.org/wiki/X_hauskorraren_sindrome" title="X hauskorraren sindrome – Baskisch" lang="eu" hreflang="eu" data-title="X hauskorraren sindrome" data-language-autonym="Euskara" data-language-local-name="Baskisch" class="interlanguage-link-target"><span>Euskara</span></a></li><li class="interlanguage-link interwiki-fa mw-list-item"><a href="https://fa.wikipedia.org/wiki/%D8%B3%D9%86%D8%AF%D8%B1%D9%85_%D8%A7%DB%8C%DA%A9%D8%B3_%D8%B4%DA%A9%D9%86%D9%86%D8%AF%D9%87" title="سندرم ایکس شکننده – Perzisch" lang="fa" hreflang="fa" data-title="سندرم ایکس شکننده" data-language-autonym="فارسی" data-language-local-name="Perzisch" class="interlanguage-link-target"><span>فارسی</span></a></li><li class="interlanguage-link interwiki-fi mw-list-item"><a href="https://fi.wikipedia.org/wiki/Fragile-X-oireyhtym%C3%A4" title="Fragile-X-oireyhtymä – Fins" lang="fi" hreflang="fi" data-title="Fragile-X-oireyhtymä" data-language-autonym="Suomi" data-language-local-name="Fins" class="interlanguage-link-target"><span>Suomi</span></a></li><li class="interlanguage-link interwiki-fr mw-list-item"><a href="https://fr.wikipedia.org/wiki/Syndrome_de_l%27X_fragile" title="Syndrome de l&#039;X fragile – Frans" lang="fr" hreflang="fr" data-title="Syndrome de l&#039;X fragile" data-language-autonym="Français" data-language-local-name="Frans" class="interlanguage-link-target"><span>Français</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_X_%D7%A9%D7%91%D7%99%D7%A8" title="תסמונת X שביר – Hebreeuws" lang="he" hreflang="he" data-title="תסמונת X שביר" data-language-autonym="עברית" data-language-local-name="Hebreeuws" class="interlanguage-link-target"><span>עברית</span></a></li><li class="interlanguage-link interwiki-hu mw-list-item"><a href="https://hu.wikipedia.org/wiki/T%C3%B6r%C3%A9keny_X-szindr%C3%B3ma" title="Törékeny X-szindróma – Hongaars" lang="hu" hreflang="hu" data-title="Törékeny X-szindróma" data-language-autonym="Magyar" data-language-local-name="Hongaars" class="interlanguage-link-target"><span>Magyar</span></a></li><li class="interlanguage-link interwiki-hy mw-list-item"><a href="https://hy.wikipedia.org/wiki/%D5%93%D5%AD%D6%80%D5%B8%D6%82%D5%B6_X_%D5%B0%D5%A1%D5%B4%D5%A1%D5%AD%D5%BF%D5%A1%D5%B6%D5%AB%D5%B7" title="Փխրուն X համախտանիշ – Armeens" lang="hy" hreflang="hy" data-title="Փխրուն X համախտանիշ" data-language-autonym="Հայերեն" data-language-local-name="Armeens" class="interlanguage-link-target"><span>Հայերեն</span></a></li><li class="interlanguage-link interwiki-it mw-list-item"><a href="https://it.wikipedia.org/wiki/Sindrome_dell%27X_fragile" title="Sindrome dell&#039;X fragile – Italiaans" lang="it" hreflang="it" data-title="Sindrome dell&#039;X fragile" data-language-autonym="Italiano" data-language-local-name="Italiaans" 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/%E8%84%86%E5%BC%B1X%E7%97%87%E5%80%99%E7%BE%A4" title="脆弱X症候群 – Japans" lang="ja" hreflang="ja" data-title="脆弱X症候群" data-language-autonym="日本語" data-language-local-name="Japans" class="interlanguage-link-target"><span>日本語</span></a></li><li class="interlanguage-link interwiki-ka mw-list-item"><a href="https://ka.wikipedia.org/wiki/%E1%83%9B%E1%83%A7%E1%83%98%E1%83%A4%E1%83%94_X_%E1%83%A1%E1%83%98%E1%83%9C%E1%83%93%E1%83%A0%E1%83%9D%E1%83%9B%E1%83%98" title="მყიფე X სინდრომი – Georgisch" lang="ka" hreflang="ka" data-title="მყიფე X სინდრომი" data-language-autonym="ქართული" data-language-local-name="Georgisch" class="interlanguage-link-target"><span>ქართული</span></a></li><li class="interlanguage-link interwiki-ko mw-list-item"><a href="https://ko.wikipedia.org/wiki/%EC%B7%A8%EC%95%BD_X_%EC%A6%9D%ED%9B%84%EA%B5%B0" title="취약 X 증후군 – Koreaans" lang="ko" hreflang="ko" data-title="취약 X 증후군" data-language-autonym="한국어" data-language-local-name="Koreaans" class="interlanguage-link-target"><span>한국어</span></a></li><li class="interlanguage-link interwiki-no mw-list-item"><a href="https://no.wikipedia.org/wiki/Fragilt_X-syndrom" title="Fragilt X-syndrom – Noors - Bokmål" lang="nb" hreflang="nb" data-title="Fragilt X-syndrom" data-language-autonym="Norsk bokmål" data-language-local-name="Noors - 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%AB%E0%AD%8D%E0%AC%B0%E0%AC%BE%E0%AC%9C%E0%AC%BE%E0%AC%87%E0%AC%B2_%E0%AC%8F%E0%AC%95%E0%AD%8D%E0%AC%B8_%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="ଫ୍ରାଜାଇଲ ଏକ୍ସ ସିଣ୍ଡ୍ରୋମ – Odia" lang="or" hreflang="or" data-title="ଫ୍ରାଜାଇଲ ଏକ୍ସ 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_%C5%82amliwego_chromosomu_X" title="Zespół łamliwego chromosomu X – Pools" lang="pl" hreflang="pl" data-title="Zespół łamliwego chromosomu X" data-language-autonym="Polski" data-language-local-name="Pools" 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_do_X_fr%C3%A1gil" title="Síndrome do X frágil – Portugees" lang="pt" hreflang="pt" data-title="Síndrome do X frágil" data-language-autonym="Português" data-language-local-name="Portugees" 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%9C%D0%B0%D1%80%D1%82%D0%B8%D0%BD%D0%B0_%E2%80%94_%D0%91%D0%B5%D0%BB%D0%BB" title="Синдром Мартина — Белл – Russisch" lang="ru" hreflang="ru" data-title="Синдром Мартина — Белл" data-language-autonym="Русский" data-language-local-name="Russisch" 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/Fragile_X_syndrome" title="Fragile X syndrome – Simple English" lang="en-simple" hreflang="en-simple" data-title="Fragile X 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%9C%D0%B0%D1%80%D1%82%D0%B8%D0%BD-%D0%91%D0%B5%D0%BB_%D1%81%D0%B8%D0%BD%D0%B4%D1%80%D0%BE%D0%BC" title="Мартин-Бел синдром – Servisch" lang="sr" hreflang="sr" data-title="Мартин-Бел синдром" data-language-autonym="Српски / srpski" data-language-local-name="Servisch" 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/Fragil_X-syndromet" title="Fragil X-syndromet – Zweeds" lang="sv" hreflang="sv" data-title="Fragil X-syndromet" data-language-autonym="Svenska" data-language-local-name="Zweeds" 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%A8%E0%AE%B2%E0%AE%BF%E0%AE%A8%E0%AF%8D%E0%AE%A4_%E0%AE%8E%E0%AE%95%E0%AF%8D%E0%AE%9A%E0%AF%81_%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="நலிந்த எக்சு நோய்த்தொகை – Tamil" lang="ta" hreflang="ta" data-title="நலிந்த எக்சு 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%B9%82%E0%B8%84%E0%B8%A3%E0%B9%82%E0%B8%A1%E0%B9%82%E0%B8%8B%E0%B8%A1%E0%B9%80%E0%B8%AD%E0%B8%81%E0%B8%8B%E0%B9%8C%E0%B9%80%E0%B8%9B%E0%B8%A3%E0%B8%B2%E0%B8%B0%E0%B8%9A%E0%B8%B2%E0%B8%87" title="กลุ่มอาการโครโมโซมเอกซ์เปราะบาง – Thai" lang="th" hreflang="th" data-title="กลุ่มอาการโครโมโซมเอกซ์เปราะบาง" 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/Frajil_X_sendromu" title="Frajil X sendromu – Turks" lang="tr" hreflang="tr" data-title="Frajil X sendromu" data-language-autonym="Türkçe" data-language-local-name="Turks" 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%BB%D0%B0%D0%BC%D0%BA%D0%BE%D1%97_X-%D1%85%D1%80%D0%BE%D0%BC%D0%BE%D1%81%D0%BE%D0%BC%D0%B8" title="Синдром ламкої X-хромосоми – Oekraïens" lang="uk" hreflang="uk" data-title="Синдром ламкої X-хромосоми" data-language-autonym="Українська" data-language-local-name="Oekraïens" 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_fragile_X" title="Hội chứng fragile X – Vietnamees" lang="vi" hreflang="vi" data-title="Hội chứng fragile X" data-language-autonym="Tiếng Việt" data-language-local-name="Vietnamees" 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/X%E6%9F%93%E8%89%B2%E9%AB%94%E6%98%93%E8%A3%82%E7%97%87" title="X染色體易裂症 – Chinees" lang="zh" hreflang="zh" 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srcset="//upload.wikimedia.org/wikipedia/commons/thumb/6/66/Esculaap4.svg/40px-Esculaap4.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/6/66/Esculaap4.svg/53px-Esculaap4.svg.png 2x" data-file-width="200" data-file-height="300" /></a></span></div> <div style="text-wrap:balance;"><small>Neem het <a href="/wiki/Wikipedia:Voorbehoud_bij_medische_informatie" title="Wikipedia:Voorbehoud bij medische informatie"><i><b>voorbehoud bij medische informatie</b></i></a> in acht.<br />Raadpleeg bij gezondheidsklachten een <a href="/wiki/Arts" title="Arts">arts</a>.</small></div> </div></div> <table class="infobox" cellpadding="1" cellspacing="1"> <tbody><tr> <th class="infobox-kop notheme" style="color:inherit; text-align:center; font-size:120%;" colspan="3">Fragiele-X-syndroom </th></tr> <tr> <td style="text-align:center; padding:0;" colspan="3"><span typeof="mw:File"><a href="/wiki/Bestand:Fragx-2.jpg" class="mw-file-description"><img alt="Jongen met het fragiele-X-syndroom" src="//upload.wikimedia.org/wikipedia/commons/thumb/1/1f/Fragx-2.jpg/266px-Fragx-2.jpg" decoding="async" width="266" height="266" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/1/1f/Fragx-2.jpg/399px-Fragx-2.jpg 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/1/1f/Fragx-2.jpg/532px-Fragx-2.jpg 2x" data-file-width="1512" data-file-height="1512" /></a></span> </td></tr> <tr> <td style="text-align:center;" colspan="3"><div style="font-size:90%">Jongen met het fragiele-X-syndroom</div> </td></tr> <tr> <td style="text-align:center; padding:0;" colspan="3"><span typeof="mw:File"><a href="/wiki/Bestand:Fmr1.jpeg" class="mw-file-description"><img alt="Locatie van het FMR1-gen" src="//upload.wikimedia.org/wikipedia/commons/thumb/f/fc/Fmr1.jpeg/266px-Fmr1.jpeg" decoding="async" width="266" height="125" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/f/fc/Fmr1.jpeg 1.5x" data-file-width="390" data-file-height="183" /></a></span> </td></tr> <tr> <td style="text-align:center;" colspan="3"><div style="font-size:90%">Locatie van het FMR1-gen</div> </td></tr> <tr> <th class="infobox-kop notheme" style="color:inherit;" colspan="3">Coderingen </th></tr> <tr> <th><a href="/wiki/ICD-10" title="ICD-10">ICD-10</a><br /><a href="/wiki/ICD-9" title="ICD-9">ICD-9</a> </th> <td colspan="2"><a href="/wiki/ICD10_Hoofdstuk_XVII" class="mw-redirect" title="ICD10 Hoofdstuk XVII">Q</a><a rel="nofollow" class="external text" href="https://icd.who.int/browse10/2019/en#/Q99.2">99.2</a><br /><a rel="nofollow" class="external text" href="http://icd9.chrisendres.com/index.php?action=search&amp;srchtext=759.83">759.83</a> </td></tr> <tr> <th><a href="/wiki/Mendelian_Inheritance_in_Man" title="Mendelian Inheritance in Man">OMIM</a> </th> <td colspan="2"><a rel="nofollow" class="external text" href="http://www.ncbi.nlm.nih.gov/omim/309550">309550</a><br /> </td></tr> <tr> <th><a href="/wiki/Diseases_Database" title="Diseases Database">DiseasesDB</a> </th> <td colspan="2"><a rel="nofollow" class="external text" href="http://www.diseasesdatabase.com/ddb4973.htm">4973</a><br /> </td></tr> <tr> <th><a href="/wiki/EMedicine" title="EMedicine">eMedicine</a> </th> <td colspan="2"><a rel="nofollow" class="external text" href="http://www.emedicine.com/ped/topic800.htm">ped/800</a><br /> </td></tr> <tr> <th><a href="/wiki/Medical_Subject_Headings" title="Medical Subject Headings">MeSH</a> </th> <td colspan="2"><a rel="nofollow" class="external text" href="https://meshb.nlm.nih.gov/record/ui?ui=D005600">D005600</a> </td></tr> <tr> <td class="infobox-kop notheme center" style="color:inherit;" colspan="3"> <table cellspacing="0" cellpadding="0"> <tbody><tr> <td style="vertical-align:middle;"><b>Portaal</b>&#160; <span class="noviewer" typeof="mw:File"><a href="/wiki/Bestand:Portal.svg" class="mw-file-description" title="Portaalicoon"><img alt="Portaalicoon" src="//upload.wikimedia.org/wikipedia/commons/thumb/c/c9/Portal.svg/22px-Portal.svg.png" decoding="async" width="22" height="20" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/c/c9/Portal.svg/33px-Portal.svg.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/c/c9/Portal.svg/44px-Portal.svg.png 2x" data-file-width="36" data-file-height="32" /></a></span> &#160; </td> <td class="ta-left"><b><a href="/wiki/Portaal:Geneeskunde" title="Portaal:Geneeskunde">Geneeskunde</a> </b> </td></tr></tbody></table> </td></tr> </tbody></table> <p>Het <b>fragiele-X-syndroom</b> (<b>FXS</b>) is een <a href="/wiki/Erfelijke_aandoening" title="Erfelijke aandoening">erfelijke aandoening</a> die gepaard gaat met een milde tot matige <a href="/wiki/Mentale_retardatie" class="mw-redirect" title="Mentale retardatie">verstandelijke handicap</a> en op <a href="/wiki/Autisme" title="Autisme">autisme</a> gelijkend gedrag. Verder zijn er dikwijls bepaalde uiterlijke kenmerken, waaronder een lang, smal gezicht en grote oren. Het syndroom wordt veroorzaakt doordat een mutatie in het <a href="/wiki/X-chromosoom" title="X-chromosoom">X-chromosoom</a> ervoor zorgt dat er een deel van het FMR1-<a href="/wiki/Gen" title="Gen">gen</a> gekopieerd is, waardoor er niet genoeg FMRP-eiwit gemaakt kan worden.<sup id="cite_ref-NIH2012GHR_1-0" class="reference"><a href="#cite_note-NIH2012GHR-1"><span class="cite-bracket">&#91;</span>1<span class="cite-bracket">&#93;</span></a></sup> </p><p>Er bestaat geen specifiek op fragiele-X-syndroom gerichte medicatie, al wordt er gebruik gemaakt van middelen tegen aandachtsproblemen, hyperactiviteit, angst en agressie.<sup id="cite_ref-NIH2016Tx_2-0" class="reference"><a href="#cite_note-NIH2016Tx-2"><span class="cite-bracket">&#91;</span>2<span class="cite-bracket">&#93;</span></a></sup> </p><p>Ongeveer 1 op de 4.000 mannen en 1 op de 6.000 vrouwen heeft dit syndroom. In Nederland zijn er ongeveer 2.900 mensen met het fragiele-X-syndroom.<sup id="cite_ref-FXS-NL_3-0" class="reference"><a href="#cite_note-FXS-NL-3"><span class="cite-bracket">&#91;</span>3<span class="cite-bracket">&#93;</span></a></sup> Jaarlijks worden 20 jongetjes en 15 meisjes geboren met het fragiele-X-syndroom. Daarmee is het, op het <a href="/wiki/Syndroom_van_Down" title="Syndroom van Down">syndroom van Down</a> na, de meest voorkomende <a href="/wiki/Genetica" title="Genetica">genetische</a> oorzaak van <a href="/wiki/Mentale_retardatie" class="mw-redirect" title="Mentale retardatie">mentale retardatie</a>.<sup class="noprint nopopups"><a href="/wiki/Wikipedia:Bronvermelding#Bron_gevraagd" title="Wikipedia:Bronvermelding"><span title="Voor deze uitspraak is sinds 28 maart 2017 een bronvermelding gewenst.">&#91;bron?&#93;</span></a></sup> </p> <meta property="mw:PageProp/toc" /> <div class="mw-heading mw-heading2"><h2 id="Geschiedenis_en_naam">Geschiedenis en naam</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fragiele-X-syndroom&amp;veaction=edit&amp;section=1" title="Bewerk dit kopje: Geschiedenis en naam" class="mw-editsection-visualeditor"><span>bewerken</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fragiele-X-syndroom&amp;action=edit&amp;section=1" title="De broncode bewerken van de sectie: Geschiedenis en naam"><span>brontekst bewerken</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>In 1943 beschreven Martin en Bell een familie met een geslachtsgebonden (dat wil zeggen dat de aandoening vooral jongens treft) overervende vorm van <a href="/wiki/Mentale_retardatie" class="mw-redirect" title="Mentale retardatie">mentale retardatie</a>.<sup id="cite_ref-4" class="reference"><a href="#cite_note-4"><span class="cite-bracket">&#91;</span>4<span class="cite-bracket">&#93;</span></a></sup> Later kon worden aangetoond, dat deze familie aan het fragiele-X-syndroom leed. In 1969 werd ontdekt dat dit syndroom gepaard ging met een eigenaardigheid van het <a href="/wiki/X-chromosoom" title="X-chromosoom">X-chromosoom</a>.<sup id="cite_ref-5" class="reference"><a href="#cite_note-5"><span class="cite-bracket">&#91;</span>5<span class="cite-bracket">&#93;</span></a></sup> Als cellen uit bijvoorbeeld bloed of huid van patiënten met het fragiele-X-syndroom worden gekweekt op een voedingsbodem met weinig foliumzuur, treedt in het <a href="/wiki/X-chromosoom" title="X-chromosoom">X-chromosoom</a> van een deel van de gekweekte cellen een breuk op aan het einde van de lange arm. Hier bevindt zich dus een <i>fragile site</i>, een kwetsbare plek waaraan het syndroom zijn naam ontleent. In 1991 werd ten slotte het FMR1-<a href="/wiki/Gen" title="Gen">gen</a> ontdekt dat zich op die plek bevindt en de afwijking die het syndroom veroorzaakt. </p> <div class="mw-heading mw-heading2"><h2 id="Oorzaak">Oorzaak</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fragiele-X-syndroom&amp;veaction=edit&amp;section=2" title="Bewerk dit kopje: Oorzaak" class="mw-editsection-visualeditor"><span>bewerken</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fragiele-X-syndroom&amp;action=edit&amp;section=2" title="De broncode bewerken van de sectie: Oorzaak"><span>brontekst bewerken</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>Het fragiele-X-syndroom wordt veroorzaakt door een verandering, een <a href="/wiki/Mutatie_(biologie)" title="Mutatie (biologie)">mutatie</a> in het FMR1-<a href="/wiki/Gen" title="Gen">gen</a> dat zich bevindt op het <a href="/wiki/X-chromosoom" title="X-chromosoom">X-chromosoom</a> op band q 27.3, dat is bijna aan het eind van de lange arm. Het <a href="/wiki/Desoxyribonucle%C3%AFnezuur" class="mw-redirect" title="Desoxyribonucleïnezuur">DNA</a> van dit gen codeert voor een deel van het FMRP eiwit, dat een belangrijke rol speelt in de hersenen. <a href="/wiki/Desoxyribonucle%C3%AFnezuur" class="mw-redirect" title="Desoxyribonucleïnezuur">DNA</a> geeft die code aan door middel van de volgorde van vier chemische stoffen, A,G,C en T, die als letters in een alfabet fungeren. Reeksen van drie letters coderen telkens voor één bepaald aminozuur, een van de bouwstenen van een eiwit, dat dus opgebouwd wordt volgens de code van het DNA. </p><p>Bij het fragiele-X-syndroom is er een verandering (<a href="/wiki/Mutatie_(biologie)" title="Mutatie (biologie)">mutatie</a>) ontstaan in het DNA van het FMR1 gen; de letter-CGG heeft zich eindeloos gekopieerd en komt meer dan 200 keer achter elkaar voor (meer dan 200 <i>repeats</i>). Hierdoor kan het gen niet meer functioneren en treedt de stoornis op. Het normale <a href="/wiki/Gen" title="Gen">gen</a> bevat tussen de 6 en de 43 CGG–<i>repeats</i>. Als er tussen de 55 en de 200 CGG-<i>repeats</i> zijn (een premutatie), kan het gen nog functioneren, maar als het aantal <i>repeats</i> bij de vorming van de eicel toeneemt, wordt de mutatie doorgegeven en treedt het syndroom in de volgende generatie op. Als het FMR1-gen niet functioneert, zal er een tekort ontstaan aan het eiwit FMRP, het eiwit waarvoor het codeert. Het ontbreken van dit eiwit lijkt er toe te leiden dat <a href="/wiki/Zenuwcel" title="Zenuwcel">zenuwcellen</a> te sterk reageren op bepaalde <a href="/wiki/Neurotransmitter" class="mw-redirect" title="Neurotransmitter">transmitters</a>, met name glutamaat.<sup id="cite_ref-FXS-NL_3-1" class="reference"><a href="#cite_note-FXS-NL-3"><span class="cite-bracket">&#91;</span>3<span class="cite-bracket">&#93;</span></a></sup> </p> <div class="mw-heading mw-heading2"><h2 id="Erfelijkheid">Erfelijkheid</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fragiele-X-syndroom&amp;veaction=edit&amp;section=3" title="Bewerk dit kopje: Erfelijkheid" class="mw-editsection-visualeditor"><span>bewerken</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fragiele-X-syndroom&amp;action=edit&amp;section=3" title="De broncode bewerken van de sectie: Erfelijkheid"><span>brontekst bewerken</span></a><span class="mw-editsection-bracket">]</span></span></div> <figure typeof="mw:File/Thumb"><a href="/wiki/Bestand:XlinkRecessive.jpg" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/a/a3/XlinkRecessive.jpg/250px-XlinkRecessive.jpg" decoding="async" width="250" height="322" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/a/a3/XlinkRecessive.jpg 1.5x" data-file-width="307" data-file-height="396" /></a><figcaption>X-gebonden overervende aandoening</figcaption></figure> <p>Vrouwen hebben in iedere cel twee X chromosomen, mannen slechts één en een <a href="/wiki/Y-chromosoom" title="Y-chromosoom">Y-chromosoom</a>. Bij vrouwen wordt in de meeste cellen een van de twee X-chromosomen inactief gemaakt (<a href="/w/index.php?title=Lyonisatie&amp;action=edit&amp;redlink=1" class="new" title="Lyonisatie (de pagina bestaat niet)">lyonisatie</a>). Daardoor is in de helft van de cellen een gezond X-chromosoom actief. Vrouwen met fragiele X hebben dus in de regel een veel minder ernstige handicap dan mannen en kunnen vaak een gezonde draagster zijn. Mannen kunnen het beschadigde <a href="/wiki/X-chromosoom" title="X-chromosoom">X-chromosoom</a> alleen van hun moeder erven (van hun vader erven zij het <a href="/wiki/Y-chromosoom" title="Y-chromosoom">Y-chromosoom</a>). </p><p>Het patroon van gezonde draagsters die aangedane zonen krijgen, is geslachtsgebonden of X-gebonden overerving. Het schema uit de illustratie hiernaast gaat echter niet geheel op, omdat veel draagsters van fragiele-X wel gehandicapt zijn. Een premutatie gaat niet gepaard met een verstandelijke beperking en kan generaties lang in een familie aanwezig zijn, zonder over te gaan in een mutatie. De overgang naar een <a href="/wiki/Mutatie_(biologie)" title="Mutatie (biologie)">mutatie</a> van meer dan 230 <i>repeats</i> treedt alleen op bij doorgifte door een vrouw, die dan dus zelf in het geheel geen verschijnselen heeft. </p> <figure class="mw-halign-left" typeof="mw:File/Thumb"><a href="/wiki/Bestand:Fragile_x_syndrom.png" class="mw-file-description"><img src="//upload.wikimedia.org/wikipedia/commons/thumb/b/b3/Fragile_x_syndrom.png/150px-Fragile_x_syndrom.png" decoding="async" width="150" height="179" class="mw-file-element" srcset="//upload.wikimedia.org/wikipedia/commons/thumb/b/b3/Fragile_x_syndrom.png/225px-Fragile_x_syndrom.png 1.5x, //upload.wikimedia.org/wikipedia/commons/thumb/b/b3/Fragile_x_syndrom.png/300px-Fragile_x_syndrom.png 2x" data-file-width="583" data-file-height="694" /></a><figcaption>Kenmerkende gelaatstrekken van het syndroom: lang gelaat, grote, vaak afstaande oren</figcaption></figure> <div class="mw-heading mw-heading2"><h2 id="Verschijnselen">Verschijnselen</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fragiele-X-syndroom&amp;veaction=edit&amp;section=4" title="Bewerk dit kopje: Verschijnselen" class="mw-editsection-visualeditor"><span>bewerken</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fragiele-X-syndroom&amp;action=edit&amp;section=4" title="De broncode bewerken van de sectie: Verschijnselen"><span>brontekst bewerken</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>De meeste jonge kinderen met fragiele-X-syndroom vertonen geen fysieke kenmerken.<sup id="cite_ref-FXS-NL_3-2" class="reference"><a href="#cite_note-FXS-NL-3"><span class="cite-bracket">&#91;</span>3<span class="cite-bracket">&#93;</span></a></sup> Deze kenmerken ontwikkelen zich vaak pas in de puberteit. Behalve een verstandelijke beperking, zijn de meest kenmerkende symptomen onder andere een langgerekt gezicht, grote of uitstekende oren, platte voeten, vergrote <a href="/wiki/Testikel" class="mw-redirect" title="Testikel">testikels</a> en een <a href="/wiki/Spierhypotonie" title="Spierhypotonie">verlaagde spierspanning</a>.<sup id="cite_ref-FXS-NL_3-3" class="reference"><a href="#cite_note-FXS-NL-3"><span class="cite-bracket">&#91;</span>3<span class="cite-bracket">&#93;</span></a></sup><sup id="cite_ref-McLennan_6-0" class="reference"><a href="#cite_note-McLennan-6"><span class="cite-bracket">&#91;</span>6<span class="cite-bracket">&#93;</span></a></sup><sup id="cite_ref-Garber_7-0" class="reference"><a href="#cite_note-Garber-7"><span class="cite-bracket">&#91;</span>7<span class="cite-bracket">&#93;</span></a></sup> Gedurende hun jeugd krijgen kinderen met FXS regelmatig last van <a href="/wiki/Middenoorontsteking" title="Middenoorontsteking">middenoorontsteking</a> en <a href="/wiki/Bijholteontsteking" title="Bijholteontsteking">bijholteontsteking</a>. Daarnaast hebben sommige mensen met FXS taalafwijkingen, waaronder een warrige, onsamenhangende spraak.<sup id="cite_ref-FXS-NL_3-4" class="reference"><a href="#cite_note-FXS-NL-3"><span class="cite-bracket">&#91;</span>3<span class="cite-bracket">&#93;</span></a></sup> Kenmerkend gedrag bestaat uit stereotiepe bewegingen, zoals het fladderen met de handen bij opwinding of stress.<sup id="cite_ref-NIH2012GHR_1-1" class="reference"><a href="#cite_note-NIH2012GHR-1"><span class="cite-bracket">&#91;</span>1<span class="cite-bracket">&#93;</span></a></sup> </p><p>Verder vertonen mensen met FXS vaak schuw gedrag en vermijden ze oogcontact; dit wordt wel <a href="/w/index.php?title=Autistiform&amp;action=edit&amp;redlink=1" class="new" title="Autistiform (de pagina bestaat niet)">autistiform</a> genoemd. Sommigen voldoen aan de diagnostische criteria voor <a href="/wiki/Autisme" title="Autisme">autisme</a>. Ook het geheugen en het vermogen om gezichten in het geheugen op te slaan lijken te zijn aangedaan.<sup id="cite_ref-NIH2012GHR_1-2" class="reference"><a href="#cite_note-NIH2012GHR-1"><span class="cite-bracket">&#91;</span>1<span class="cite-bracket">&#93;</span></a></sup> </p><p><a href="/wiki/ADHD" title="ADHD">ADHD</a>-achtig gedrag komt bij mannen met fragiele-X vaak voor. Bij vrouwen komen soms <a href="/wiki/Klinische_depressie" class="mw-redirect" title="Klinische depressie">depressies</a> voor. </p> <div class="mw-heading mw-heading2"><h2 id="Diagnose">Diagnose</h2><span class="mw-editsection"><span class="mw-editsection-bracket">[</span><a href="/w/index.php?title=Fragiele-X-syndroom&amp;veaction=edit&amp;section=5" title="Bewerk dit kopje: Diagnose" class="mw-editsection-visualeditor"><span>bewerken</span></a><span class="mw-editsection-divider"> | </span><a href="/w/index.php?title=Fragiele-X-syndroom&amp;action=edit&amp;section=5" title="De broncode bewerken van de sectie: Diagnose"><span>brontekst bewerken</span></a><span class="mw-editsection-bracket">]</span></span></div> <p>De diagnose fragiele-X-syndroom wordt vermoed bij mensen met een <a href="/wiki/Mentale_retardatie" class="mw-redirect" title="Mentale retardatie">verstandelijke handicap</a> en de typische kenmerken. Maar ook, wanneer de typische kenmerken ontbreken, zal bij mannen of jongens met een verstandelijke handicap, waarvan de oorzaak niet bekend is, al snel onderzoek worden ingezet naar het fragiele-X-syndroom. In het <a href="/wiki/Desoxyribonucle%C3%AFnezuur" class="mw-redirect" title="Desoxyribonucleïnezuur">DNA</a> van de <a href="/wiki/Lymfocyt" title="Lymfocyt">lymfocyten</a> uit een buisje bloed wordt gekeken naar de verlenging van het gen die optreedt als het aantal <i>repeats</i> is toegenomen. Zo kan worden vastgesteld of de mutatie aanwezig is.<sup class="noprint nopopups"><a href="/wiki/Wikipedia:Bronvermelding#Bron_gevraagd" title="Wikipedia:Bronvermelding"><span title="Voor deze uitspraak is sinds 28 maart 2017 een bronvermelding gewenst.">&#91;bron?&#93;</span></a></sup> Dit onderzoek kan ook plaatsvinden in <a href="/wiki/Vruchtwaterpunctie" title="Vruchtwaterpunctie">vruchtwater</a> of <a href="/wiki/Vlokkentest" title="Vlokkentest">placentavlokken</a>. </p> <div class="toccolours appendix" role="presentation" style="font-size:90%; margin:1em 0 -0.5em; clear:both;"> <div></div> <p><b>Externe links</b> </p> <ul><li><a rel="nofollow" class="external text" href="http://www.fragielex.nl">Fragiele X Vereniging Nederland</a></li> <li><a rel="nofollow" class="external text" href="https://www.facebook.com/groups/FragieleXVlaanderen">Fragiele X Vlaanderen</a></li></ul> <hr /> <p><b>Referenties</b> </p> <div class="reflist" style="list-style-type: decimal;"><div class="mw-references-wrap"><ol class="references"> <li id="cite_note-NIH2012GHR-1"><span class="mw-cite-backlink">↑ <a href="#cite_ref-NIH2012GHR_1-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-NIH2012GHR_1-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-NIH2012GHR_1-2"><sup><i><b>c</b></i></sup></a></span> <span class="reference-text"><span class="citation" id="CITEREF2012"><a rel="nofollow" class="external text" href="https://ghr.nlm.nih.gov/condition/fragile-x-syndrome">fragile X syndrome</a>.&#32;<i>Genetics Home Reference</i>&#32;(april 2012).&#32;<a rel="nofollow" class="external text" href="https://web.archive.org/web/20161009162713/https://ghr.nlm.nih.gov/condition/fragile-x-syndrome">Gearchiveerd</a> op <span class="mw-formatted-date" title="2016-10-09">9 oktober 2016</span>.&#32;Geraadpleegd op <span class="mw-formatted-date" title="2017-03-28">28 maart 2017</span>. </span></span> </li> <li id="cite_note-NIH2016Tx-2"><span class="mw-cite-backlink"><a href="#cite_ref-NIH2016Tx_2-0">↑</a></span> <span class="reference-text"><span class="citation"><a rel="nofollow" class="external text" href="https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/treatments.aspx">What are the treatments for Fragile X syndrome?</a>.&#32;<i>www.nichd.nih.gov</i>.&#32;<a rel="nofollow" class="external text" href="https://web.archive.org/web/20161121233205/https://www.nichd.nih.gov/health/topics/fragilex/conditioninfo/Pages/treatments.aspx">Gearchiveerd</a> op <span class="mw-formatted-date" title="2016-11-21">21 november 2016</span>.&#32;Geraadpleegd op <span class="mw-formatted-date" title="2017-03-28">28 maart 2017</span>. </span></span> </li> <li id="cite_note-FXS-NL-3"><span class="mw-cite-backlink">↑ <a href="#cite_ref-FXS-NL_3-0"><sup><i><b>a</b></i></sup></a> <a href="#cite_ref-FXS-NL_3-1"><sup><i><b>b</b></i></sup></a> <a href="#cite_ref-FXS-NL_3-2"><sup><i><b>c</b></i></sup></a> <a href="#cite_ref-FXS-NL_3-3"><sup><i><b>d</b></i></sup></a> <a href="#cite_ref-FXS-NL_3-4"><sup><i><b>e</b></i></sup></a></span> <span class="reference-text"><span class="citation"><span style="font-variant:small-caps;">Fragiele X Vereniging Nederland</span>,&#32;<a rel="nofollow" class="external text" href="https://www.fragielex.nl/informatie/de-eerste-jaren-fragiele-x-diagnose/kenmerken/">Kenmerken fragiele X</a>.&#32;<a rel="nofollow" class="external text" href="https://web.archive.org/web/20170329050954/https://www.fragielex.nl/informatie/de-eerste-jaren-fragiele-x-diagnose/kenmerken/">Gearchiveerd</a> op 29-3-2017.&#32;Geraadpleegd op 28-03-2017. </span></span> </li> <li id="cite_note-4"><span class="mw-cite-backlink"><a href="#cite_ref-4">↑</a></span> <span class="reference-text"><span class="citation" id="CITEREFMartin,_J.P._&amp;_Bell,_J."><span style="font-variant:small-caps;">Martin, J.P. &amp; Bell, J.</span>.&#32;<cite>A pedigree of mental defect showing sex-linkage</cite>. <i>Journal of neurology, neurosurgery, and psychiatry</i>&#32;<b>1943</b>&#32;(6): 154-157&#32;(BMJ Publishing Group). </span></span> </li> <li id="cite_note-5"><span class="mw-cite-backlink"><a href="#cite_ref-5">↑</a></span> <span class="reference-text"><span class="citation" id="CITEREFLubs,_H.1969"><span style="font-variant:small-caps;">Lubs, H.</span>&#32;(1969).&#32;<cite>A marker X chromosome</cite>. <i>Am Hum Genet</i>&#32;(21): 231. </span></span> </li> <li id="cite_note-McLennan-6"><span class="mw-cite-backlink"><a href="#cite_ref-McLennan_6-0">↑</a></span> <span class="reference-text"><span class="citation" id="CITEREFMcLennan,_Y.,_Polussa,_J.,_Tassone,_F.,_&amp;_Hagerman,_R.2011"><span style="font-variant:small-caps;">McLennan, Y., Polussa, J., Tassone, F., &amp; Hagerman, R.</span>&#32;(2011).&#32;<cite>Fragile X Syndrome</cite>. <i>Current Genomics</i>&#32;<b>12</b>&#32;(3): 216–224. <a href="/wiki/PubMed" title="PubMed">PMID</a> <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pubmed/22043169">22043169</a>. <a href="/wiki/PubMed_Central" title="PubMed Central">PMC</a> <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3137006">3137006</a>. <a href="/wiki/Digital_object_identifier" title="Digital object identifier">DOI</a>: <a rel="nofollow" class="external text" href="https://doi.org/10.2174/138920211795677886">10.2174/138920211795677886</a>. </span></span> </li> <li id="cite_note-Garber-7"><span class="mw-cite-backlink"><a href="#cite_ref-Garber_7-0">↑</a></span> <span class="reference-text"><span class="citation" id="CITEREFGarber,_K.B.,_Visootsak,_J.,_&amp;_Warren,_S.T.2008"><span style="font-variant:small-caps;">Garber, K.B., Visootsak, J., &amp; Warren, S.T.</span>&#32;(2008).&#32;<cite>Fragile X syndrome</cite>. <i>European Journal of Human Genetics</i>&#32;<b>16</b>&#32;(6): 666–72. <a href="/wiki/PubMed" title="PubMed">PMID</a> <a rel="nofollow" class="external text" href="https://www.ncbi.nlm.nih.gov/pubmed/18398441">18398441</a>. <a href="/wiki/Digital_object_identifier" title="Digital object identifier">DOI</a>: <a rel="nofollow" class="external text" href="https://doi.org/10.1038/ejhg.2008.61">10.1038/ejhg.2008.61</a>. </span></span> </li> </ol></div></div> </div> <style data-mw-deduplicate="TemplateStyles:r67837862">.mw-parser-output .navigatie{position:relative;clear:both;overflow:auto;margin:1em auto -0.5em;padding:2px;background-color:var(--background-color-neutral-subtle,#f8f9fa);border:1px solid var(--border-color-base,#a2a9b1);text-align:center;font-size:87%}.mw-parser-output .navigatie-bewerken{margin-left:0.5em}.mw-parser-output .navigatie-bewerken .mw-ui-icon::before{background-size:0.9em}.mw-parser-output .navigatie-afb-links,.mw-parser-output .navigatie-afb-rechts{position:absolute}.mw-parser-output .navigatie-afb-rechts{right:2px}.mw-parser-output .navigatie-afb-groot{float:right;padding-left:0.5em}.mw-parser-output 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cellspacing="0" style=""><tbody><tr><td class="links" style=""><b>Diagnoses:</b></td><td class="rechts"><a href="/wiki/Autisme" title="Autisme">Autisme</a> <br /><a href="/wiki/Autismespectrumstoornis" title="Autismespectrumstoornis">Autismespectrumstoornis</a> (ASS) · (<a href="/wiki/Hoogfunctionerend_autisme" title="Hoogfunctionerend autisme">Hoogfunctionerend autisme</a> · <a href="/wiki/Autistische_stoornis" title="Autistische stoornis">Autistische stoornis</a> ('Klassiek autisme') · <a href="/wiki/Syndroom_van_Asperger" title="Syndroom van Asperger">Syndroom van Asperger</a> · <a href="/wiki/PDD-NOS" title="PDD-NOS">PDD-NOS</a> · <a href="/wiki/Desintegratiestoornis_van_de_kinderleeftijd" title="Desintegratiestoornis van de kinderleeftijd">Desintegratiestoornis van de kinderleeftijd</a> · <a href="/wiki/Syndroom_van_Rett" title="Syndroom van Rett">Syndroom van Rett</a> · <a href="/wiki/Atypisch_autisme" title="Atypisch autisme">Atypisch autisme</a>)</td></tr><tr><td class="links"><b><span class="nowrap">Verwante aandoeningen:</span></b></td><td class="rechts"><a href="/wiki/Alexithymie" title="Alexithymie">Alexithymie</a> · <a href="/wiki/ADHD_(hoofdbetekenis)" class="mw-redirect" title="ADHD (hoofdbetekenis)">ADHD</a> · <a href="/wiki/Angststoornis" title="Angststoornis">Angststoornis</a> (<a href="/wiki/Obsessieve-compulsieve_stoornis" title="Obsessieve-compulsieve stoornis">Obsessieve-compulsieve stoornis</a>) · <a href="/wiki/Antisociale_gedragsstoornis" title="Antisociale gedragsstoornis">Antisociale gedragsstoornis</a> · <a href="/w/index.php?title=Late_talker&amp;action=edit&amp;redlink=1" class="new" title="Late talker (de pagina bestaat niet)">Late talker</a> · <a class="mw-selflink selflink">Fragiele-X-syndroom</a> · <a href="/wiki/Hyperlexie" title="Hyperlexie">Hyperlexie</a> · <a href="/wiki/Savantsyndroom" title="Savantsyndroom">Savantsyndroom</a> · <a href="/w/index.php?title=Sensorische_integratiestoornis&amp;action=edit&amp;redlink=1" class="new" title="Sensorische integratiestoornis (de pagina bestaat niet)">Sensorische integratiestoornis</a> · <a href="/wiki/Verstandelijke_beperking" title="Verstandelijke beperking">Verstandelijke beperking</a> · <a href="/wiki/Dyspraxie" class="mw-redirect" title="Dyspraxie">Dyspraxie</a> · <a href="/wiki/Meervoudig_complexe_ontwikkelingsstoornis" title="Meervoudig complexe ontwikkelingsstoornis">Meervoudig complexe ontwikkelingsstoornis</a> · <a href="/wiki/Oppositioneel-opstandige_gedragsstoornis" title="Oppositioneel-opstandige gedragsstoornis">ODD</a> · <a href="/wiki/Niet-verbale_leerstoornis" title="Niet-verbale leerstoornis">NLD</a> · <a href="/wiki/IDIC-15" title="IDIC-15">Isodicentrisch chromosoom 15</a> · <a href="/wiki/Ontwijkende_persoonlijkheidsstoornis" class="mw-redirect" title="Ontwijkende persoonlijkheidsstoornis">Ontwijkende persoonlijkheidsstoornis</a></td></tr><tr><td class="links"><b>Controverses:</b></td><td class="rechts"><a href="/w/index.php?title=Autistic_enterocolitis&amp;action=edit&amp;redlink=1" class="new" title="Autistic enterocolitis (de pagina bestaat niet)">Autistic enterocolitis</a> · <a href="/w/index.php?title=Gefasciliteerde_communicatie&amp;action=edit&amp;redlink=1" class="new" title="Gefasciliteerde communicatie (de pagina bestaat niet)">Gefasciliteerde communicatie</a> · <a href="/wiki/BMR-vaccin#Weerlegde_theorie_BMR-vaccin_als_oorzaak_autisme" title="BMR-vaccin">BMR-vaccin</a> · <a href="/w/index.php?title=Rapid_prompting_method&amp;action=edit&amp;redlink=1" class="new" title="Rapid prompting method (de pagina bestaat niet)">Rapid prompting method</a> · <a href="/wiki/Thiomersal" title="Thiomersal">Thiomersal</a> (<a href="/wiki/Chelatietherapie" title="Chelatietherapie">Chelatietherapie</a>) · <a href="/wiki/Discriminatie_tegen_autistische_mensen" title="Discriminatie tegen autistische mensen">Discriminatie tegen autistische mensen</a></td></tr><tr><td class="links"><b><span class="nowrap">Diagnostiek:</span></b></td><td class="rechts"><a href="/wiki/Autismespectrumquoti%C3%ABnt" title="Autismespectrumquotiënt">Autismespectrumquotiënt</a> · <a href="/wiki/Childhood_Autism_Rating_Scale" title="Childhood Autism Rating Scale">Childhood Autism Rating Scale</a> · <a href="/wiki/ICD-10" title="ICD-10">ICD-10</a> · <a href="/wiki/Diagnostic_and_Statistical_Manual_of_Mental_Disorders" title="Diagnostic and Statistical Manual of Mental Disorders">Diagnostic and Statistical Manual of Mental Disorders</a> · <a href="/w/index.php?title=Gilliam_Asperger%27s_disorder_scale&amp;action=edit&amp;redlink=1" class="new" title="Gilliam Asperger&#39;s disorder scale (de pagina bestaat niet)">Gilliam Asperger's disorder scale</a> · <a href="/w/index.php?title=Autism_Diagnostic_Observation_Schedule&amp;action=edit&amp;redlink=1" class="new" title="Autism Diagnostic Observation Schedule (de pagina bestaat niet)">Autism Diagnostic Observation Schedule</a> · <a href="/w/index.php?title=Autism_Diagnostic_Interview&amp;action=edit&amp;redlink=1" class="new" title="Autism Diagnostic Interview (de pagina bestaat niet)">Autism Diagnostic Interview</a></td></tr><tr><td class="links"><b>Patiëntenverenigingen:</b></td><td class="rechts"><a href="/wiki/Personen_met_een_Autisme_Spectrum_Stoornis" title="Personen met een Autisme Spectrum Stoornis">Personen met een Autisme Spectrum Stoornis (PASS)</a> <small><b>(BE)</b></small> · <a href="/wiki/Vlaamse_Vereniging_Autisme" title="Vlaamse Vereniging Autisme">Vlaamse Vereniging Autisme</a> <small><b>(BE)</b></small> · <a href="/wiki/Stichting_Papageno" title="Stichting Papageno">Stichting Papageno</a> <small><b>(NL)</b></small> · <a href="/wiki/Personen_uit_het_Autisme_Spectrum" title="Personen uit het Autisme Spectrum">Personen uit het Autisme Spectrum (PAS)</a> <small><b>(NL)</b></small> · <a href="/wiki/Nederlandse_Vereniging_voor_Autisme" title="Nederlandse Vereniging voor Autisme">Nederlandse Vereniging voor Autisme (NVA)</a> <small><b>(NL)</b></small></td></tr><tr><td class="links"><b><span class="nowrap">Professionele ondersteuning:</span></b></td><td class="rechts"><a href="/wiki/Koninklijk_Instituut_Spermalie" title="Koninklijk Instituut Spermalie">Koninklijk Instituut Spermalie</a> <small><b>(BE)</b></small> · <a href="/wiki/Kentalis" title="Kentalis">Kentalis</a> <small><b>(NL)</b></small> · <a href="/wiki/Dr._Leo_Kannerhuis" title="Dr. Leo Kannerhuis">Dr. Leo Kannerhuis</a> <small><b>(NL)</b></small> · <a href="/wiki/De_Steiger" title="De Steiger">De Steiger</a> <small><b>(NL)</b></small></td></tr><tr><td class="links"><b><span class="nowrap">Sociale beweging:</span></b></td><td class="rechts"><a href="/wiki/Autismebeweging" title="Autismebeweging">Autismebeweging</a></td></tr><tr><td class="links"><b><span class="nowrap">Overlap:</span></b></td><td class="rechts"><a href="/wiki/Autisme_en_LHBT-identiteiten" class="mw-redirect" title="Autisme en LHBT-identiteiten">Autisme en LHBT-identiteiten</a></td></tr></tbody></table> </div></div> <link rel="mw-deduplicated-inline-style" href="mw-data:TemplateStyles:r67837862"><div class="navigatie mw-collapsible mw-collapsed" role="navigation" aria-labelledby="Bibliografische informatie" data-collapsetext="Inklappen" data-expandtext="Uitklappen"><div id="Bibliografische_informatie" class="navigatie-titel"><a href="/wiki/Wikipedia:Bibliografische_informatie" title="Wikipedia:Bibliografische informatie">Bibliografische informatie</a></div><div class="navigatie-inhoud mw-collapsible-content plainlist ta-left"><ul style="column-width:36em"><li><b><a href="/wiki/Biblioth%C3%A8que_nationale_de_France" title="Bibliothèque nationale de France">Bibliothèque nationale de France</a>:</b> <span class="uid"><a rel="nofollow" class="external text" href="https://catalogue.bnf.fr/ark:/12148/cb12261022k">cb12261022k</a> <a rel="nofollow" class="external text" href="https://data.bnf.fr/ark:/12148/cb12261022k">(data)</a></span></li><li><b><a href="/wiki/Gemeinsame_Normdatei" title="Gemeinsame Normdatei">Gemeinsame Normdatei</a>:</b> <span class="uid"><a rel="nofollow" class="external text" href="https://d-nb.info/gnd/4324268-6">4324268-6</a></span></li><li><b><a href="/wiki/Library_of_Congress_Control_Number" title="Library of Congress Control Number">Library of Congress Control Number</a>:</b> <span class="uid"><a rel="nofollow" class="external text" href="https://id.loc.gov/authorities/subjects/sh85051162">sh85051162</a></span></li><li><b><a href="/wiki/Nationale_Bibliotheek_van_Tsjechi%C3%AB" title="Nationale Bibliotheek van Tsjechië">Nationale Bibliotheek van Tsjechië</a>:</b> <span class="uid"><a rel="nofollow" class="external text" href="https://aleph.nkp.cz/F/?func=find-c&amp;local_base=aut&amp;ccl_term=ica=ph1141096&amp;CON_LNG=ENG">ph1141096</a></span></li><li><b><a href="/wiki/Nationale_Bibliotheek_van_Isra%C3%ABl" title="Nationale 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