Frajil X Sendromu Olduklarından Şüphelenilen Çocuklarda Sitogenetik ve Moleküler Araştırmalar

Frajil X Sendromu Olduklarından Şüphelenilen Çocuklarda Sitogenetik ve Moleküler Araştırmalar

Amaç: Kalıtımla geçen mental retardasyonun en yaygın nedeni Frajil X sendromudur (FXS). X kromozomu üzerinde bulunan FMR1 geninde meydana gelen bir mutasyon, bu sendroma yol açmaktadır. Tanı için kromozom analizi ve moleküler genetik testlerden birine veya her ikisine birden başvurulabilmektedir....

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Bibliographic Details
Main Authors:	Onur ÖZER, Osman DEMİRHAN, Erdal TUNC, Hüseyin BAĞCI, Dilara KARAHAN, Nilgün TANRİVERDİ, Bertan YILMAZ, Ali İrfan GÜZEL, İbrahim KESER
Format:	Article
Language:	English
Published:	Cukurova University 2012-06-01
Series:	Cukurova Medical Journal
Subjects:	- fragile x syndrome fmr1 gene cytogenetic and molecular screenings frajil x sendromu fmr1 geni sitogenetik ve moleküler taramalar
Online Access:	https://dergipark.org.tr/tr/pub/cumj/issue/4199/55372?publisher=cu

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