Prenatal diagnosis of Smith–Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects

Prenatal diagnosis of Smith–Magenis syndrome in two fetuses with increased nuchal translucency, mild lateral ventriculomegaly, and congenital heart defects

Objective: Smith–Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation disorder characterized by an interstitial deletion involving chromosome 17p11.2 containing the retinoic acid-induced 1 (RAI1) gene or due to mutation of RAI1. Few cases have been reported in the medical lit...

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Bibliographic Details
Main Authors: Ting-Ying Lei, Ru Li, Fang Fu, Jun-Hui Wan, Yong-Ling Zhang, Xiang-Yi Jing, Can Liao
Format: Article
Language:English
Published: Elsevier 2016-12-01
Series:Taiwanese Journal of Obstetrics & Gynecology
Subjects:
chromosome microarray analysis
congenital heart defects
increased nuchal translucency
prenatal diagnosis
Smith–Magenis syndrome
Online Access:http://www.sciencedirect.com/science/article/pii/S1028455916302054

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