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

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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Bibliographic Details
Main Authors: Chih-Ping Chen, Hoi-Kin Yip, Liang-Kai Wang, Schu-Rern Chern, Shin-Wen Chen, Shih-Ting Lai, Peih-Shan Wu, Wayseen Wang
Format: Article
Language:English
Published: Elsevier 2017-06-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
ATRX
Prenatal diagnosis
Xq13.3-q21.1 duplication
Xq duplication
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455917300931

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http://www.sciencedirect.com/science/article/pii/S1028455917300931

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