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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Autores principales:	Ting-Ying Lei, Ru Li, Fang Fu, Jun-Hui Wan, Yong-Ling Zhang, Xiang-Yi Jing, Can Liao
Formato:	Artigo
Lenguaje:	Inglês
Publicado:	Elsevier 2016-12-01
Colección:	Taiwanese Journal of Obstetrics & Gynecology
Materias:	chromosome microarray analysis congenital heart defects increased nuchal translucency prenatal diagnosis Smith–Magenis syndrome
Acceso en línea:	http://www.sciencedirect.com/science/article/pii/S1028455916302054
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