{"id":3322,"date":"2025-10-06T05:52:40","date_gmt":"2025-10-06T05:52:40","guid":{"rendered":"https:\/\/genoks.com.tr\/docs\/rett-syndrome-az\/"},"modified":"2026-05-02T05:14:21","modified_gmt":"2026-05-02T05:14:21","password":"","slug":"rett-syndrome-az","status":"publish","type":"docs","link":"https:\/\/genoks.com.tr\/az\/docs\/rett-syndrome-az\/","title":{"rendered":"Rett Sindromu n\u0259dir? Nec\u0259 \u00f6z\u00fcn\u00fc g\u00f6st\u0259rir?"},"content":{"rendered":"<p><!--genoks-intro-az:start--><\/p>\n<p><strong>Rett Sindromu.<\/strong> \u018fsas\u0259n qad\u0131nlar\u0131 t\u0259sir ed\u0259n (ki\u015fil\u0259rd\u0259 dem\u0259k olar prenatal letal) MECP2 genind\u0259ki mutasyalardan qaynaqlanan X-d\u0259 ba\u011fl\u0131 dominant neyroinki\u015faf poz\u011funlu\u011fu. Klassik x\u00fcsusiyy\u0259tl\u0259r: normal erk\u0259n inki\u015faf (6-18 ay), sonra m\u0259qs\u0259dli \u0259l istifad\u0259sinin itirilm\u0259si il\u0259 geril\u0259m\u0259, stereotip \u0259l burma, add\u0131m apraksisi, mikrosefali, q\u0131colmalar, otonom disfunksiya. Diaqnostika: klinik meyarlar (Neul 2010) + MECP2 sekvenslama\/MLPA. M\u00fcalic\u0259: d\u0259st\u0259kl\u0259yici \u00e7oxsah\u0259li qulluq, trofinetide (FDA-da 2023-d\u0259 t\u0259sdiql\u0259nmi\u015f).<\/p>\n<p><!--genoks-intro-az:end--><\/p>\n<p style=\"text-align: justify\">Rett Sendromu X kromozomu \u00fczerinde bulunan MECP2 gen mutasyonlar\u0131na ba\u011fl\u0131 olarak ortaya \u00e7\u0131kan n\u00f6rolojik bozukluktur. Hemen hemen her zaman k\u0131z \u00e7ocuklarda g\u00f6r\u00fcl\u00fcr, bozukluk olan erkek fet\u00fcsler nadiren do\u011far. Rett Sendromu durumunda do\u011fum s\u0131ras\u0131nda herhangi bir sorun olmamas\u0131na ra\u011fmen\u00a0 alt\u0131 ile on sekiz ay aras\u0131nda geli\u015fme gerili\u011fi ba\u015flar. Sonras\u0131nda dil ve motor beceri geli\u015fmesi geriler, ama\u00e7l\u0131 el kullan\u0131m\u0131 kaybolur ve bazen mikrosefaliye kadar giden ba\u015f b\u00fcy\u00fcme h\u0131z\u0131nda azalma g\u00f6r\u00fcl\u00fcr. N\u00f6betler ve bili\u015fsel yetersizlik e\u015flik eder.<\/p>\n<div id=\"attachment_1563\" style=\"width: 2570px\" class=\"wp-caption alignnone\"><img loading=\"lazy\" decoding=\"async\" aria-describedby=\"caption-attachment-1563\" class=\"size-full wp-image-1563\" src=\"https:\/\/genoks.com.tr\/wp-content\/uploads\/2023\/04\/holding-hands-scaled.jpg\" alt=\"Rett Sendromu\" width=\"2560\" height=\"1773\" \/><p id=\"caption-attachment-1563\" class=\"wp-caption-text\">Rett Sendromu<\/p><\/div>\n<table>\n<tbody>\n<tr>\n<td><strong>Gen :<\/strong><\/td>\n<td>MECP2<\/td>\n<\/tr>\n<tr>\n<td><strong>Y\u00f6ntem :<\/strong><\/td>\n<td>T\u00fcm Gen Dizi Analizi<\/td>\n<\/tr>\n<tr>\n<td><strong>Raporlama S\u00fcresi :<\/strong><\/td>\n<td>6-8 Hafta (+\/- 2 Hafta)<\/td>\n<\/tr>\n<tr>\n<td><strong><strong>Prenatal\/ Postnatal:<\/strong><\/strong><\/td>\n<td>Postnatal<\/td>\n<\/tr>\n<tr>\n<td><strong>Gerekli Numune<\/strong>:<\/td>\n<td>EDTA&#8217;l\u0131 Kan (2-4 ml)<\/td>\n<\/tr>\n<tr>\n<td><strong>Saklama \/ Ta\u015f\u0131ma S\u0131cakl\u0131\u011f\u0131:<\/strong><\/td>\n<td>+ 4C\u00b0\/ + 24C\u00b0<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>T\u00fcm genetik testlerimiz <strong>&#8220;Hasta Onam Formu&#8221;<\/strong> ve <strong>&#8220;KVKK Formu&#8221;<\/strong>nun imzalanmas\u0131n\u0131n ard\u0131ndan \u00e7al\u0131\u015f\u0131lmaya ba\u015flan\u0131r.<\/p>\n<hr \/>\n<p><strong>Detayl\u0131 Bilgi Almak \u0130\u00e7in Bize Mesaj Atabilirsiniz.<\/strong><\/p>\n<table>\n<tbody>\n<tr>\n<td>[contact-form-7 id=&#8221;710&#8243; title=&#8221;genetik ba\u015fvuru&#8221;]<\/td>\n<\/tr>\n<\/tbody>\n<\/table>\n<p>Genoks Genetik Hastal\u0131klar De\u011ferlendirme Merkezi T.C. Sa\u011fl\u0131k Bankanl\u0131\u011f\u0131nca denetlenen ve GHDM-SM\/06.15\/01 ruhsat numaras\u0131 ile hizmet veren sa\u011fl\u0131k kurulu\u015fudur. genoks.com.tr web sayfas\u0131nda bulunan bilgiler, genetik de\u011ferlendirme ve\/veya tan\u0131-te\u015fhis ama\u00e7l\u0131 kullan\u0131lmamal\u0131d\u0131r. T\u00fcm i\u00e7erikler bilgilendirme ama\u00e7l\u0131d\u0131r.<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Rett Sindromu. \u018fsas\u0259n qad\u0131nlar\u0131 t\u0259sir ed\u0259n (ki\u015fil\u0259rd\u0259 dem\u0259k olar prenatal letal) MECP2 genind\u0259ki mutasyalardan qaynaqlanan X-d\u0259 ba\u011fl\u0131 dominant neyroinki\u015faf poz\u011funlu\u011fu. Klassik x\u00fcsusiyy\u0259tl\u0259r: normal erk\u0259n inki\u015faf (6-18 ay), sonra m\u0259qs\u0259dli \u0259l istifad\u0259sinin itirilm\u0259si il\u0259 geril\u0259m\u0259, stereotip \u0259l burma, add\u0131m apraksisi, mikrosefali,<span class=\"excerpt-hellip\"> [\u2026]<\/span><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","template":"","meta":{"footnotes":""},"doc_category":[205],"doc_tag":[],"class_list":["post-3322","docs","type-docs","status-publish","hentry","doc_category-genoks-gdhm-genetik-testler-az"],"aioseo_notices":[],"year_month":"2026-05","word_count":328,"total_views":0,"reactions":{"happy":0,"normal":0,"sad":0},"author_info":{"name":"admin","author_nicename":"admin","author_url":"https:\/\/genoks.com.tr\/az\/author\/admin\/"},"doc_category_info":[{"term_name":"Genoks GDHM Genetik Testl\u0259r","term_url":"https:\/\/genoks.com.tr\/az\/docs-category\/genoks-gdhm-genetik-testler-az\/"}],"doc_tag_info":[],"aioseo_head":"\n\t\t<!-- All in One SEO Pro 4.9.5.2 - aioseo.com -->\n\t<meta name=\"description\" content=\"Rett Sindromu. \u018fsas\u0259n qad\u0131nlar\u0131 t\u0259sir ed\u0259n (ki\u015fil\u0259rd\u0259 dem\u0259k olar prenatal letal) MECP2 genind\u0259ki mutasyalardan qaynaqlanan X-d\u0259 ba\u011fl\u0131 dominant neyroinki\u015faf poz\u011funlu\u011fu. 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Nec\\u0259 \\u00f6z\\u00fcn\\u00fc g\\u00f6st\\u0259rir? - Genoks Genetika | NIPT, Da\\u015f\\u0131y\\u0131c\\u0131 Tarama, Onkogenetika v\\u0259 WES Xidm\\u0259tl\\u0259ri\",\"description\":\"Rett Sindromu. \\u018fsas\\u0259n qad\\u0131nlar\\u0131 t\\u0259sir ed\\u0259n (ki\\u015fil\\u0259rd\\u0259 dem\\u0259k olar prenatal letal) MECP2 genind\\u0259ki mutasyalardan qaynaqlanan X-d\\u0259 ba\\u011fl\\u0131 dominant neyroinki\\u015faf poz\\u011funlu\\u011fu. Klassik x\\u00fcsusiyy\\u0259tl\\u0259r: normal erk\\u0259n inki\\u015faf (6-18 ay), sonra m\\u0259qs\\u0259dli \\u0259l istifad\\u0259sinin itirilm\\u0259si il\\u0259 geril\\u0259m\\u0259, stereotip \\u0259l burma, add\\u0131m apraksisi, mikrosefali, q\\u0131colmalar, otonom disfunksiya. Diaqnostika: klinik meyarlar (Neul 2010) + MECP2 sekvenslama\\\/MLPA. 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