MECP2 Duplication Syndrome

被引：112

作者：

Van Esch, H. ^{[1
]}

机构：

[1] Univ Hosp Leuven, Ctr Human Genet, Herestraat 49, BE-3000 Leuven, Belgium

来源：

MOLECULAR SYNDROMOLOGY | 2011年 / 2卷 / 3-5期

关键词：

Array comparative genomic hybridization; Duplication; Epilepsy; Hypotonia; Intellectual disability; MECP2; Recurrent infections; Spasticity; X chromosome; Xq28;

D O I：

10.1159/000329580

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Since the initial report that clearly established a causal role between duplication of the MECP2 gene and a severe syndromic form of intellectual disability, many new patients have been identified and reported, and the etiology in already published families solved. This has led to the establishment of a clinically recognizable disorder. Here, we review the clinical data of 129 reported and nonreported male patients with MECP2 duplication syndrome. Copyright (C) 2011 S. Karger AG, Basel

引用

页码：128 / 136

页数：9

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