Molecular genetic characterization of a prenatally detected 1.484-Mb Xq13.3-q21.1 duplication encompassing ATRX and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1

Objective: We present prenatal diagnosis of dup(X)(q13.3q21.1) in a male fetus and molecular genetic analysis in three generations and a literature review of syndromic intellectual disability and congenital abnormalities in males with a duplication at Xq13.3-q21.1. Case report: A 35-year-old, primig...

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Autores principales:	Chih-Ping Chen, Hoi-Kin Yip, Liang-Kai Wang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Wayseen Wang
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Elsevier 2017-06-01
Colección:	Taiwanese Journal of Obstetrics & Gynecology
Materias:	ATRX Prenatal diagnosis Xq13.3-q21.1 duplication Xq duplication
Acceso en línea:	http://www.sciencedirect.com/science/article/pii/S1028455917300931
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