Congenital diaphragmatic hernia is part of the new 15q24 microdeletion syndrome

被引：30

作者：

Van Esch, Hilde ^{[1
]}

Backx, Liesbeth ^{[1
]}

Pijkels, Elly ^{[1
]}

Fryns, Jean-Pierre ^{[1
]}

机构：

[1] Univ Hosp Leuven, Ctr Human Genet, B-3000 Louvain, Belgium

来源：

EUROPEAN JOURNAL OF MEDICAL GENETICS | 2009年 / 52卷 / 2-3期

关键词：

15q24; Diaphragmatic hernia; Mental retardation; Recurrent; Microdeletion; ARRAY; HYBRIDIZATION;

D O I：

10.1016/j.ejmg.2009.02.003

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

The recurrent microdeletion 15q24 syndrome is rare with only 5 cases reported thus far. Here we describe an additional patient with this deletion, presenting with many features common to this syndrome, including developmental delay, loose connective tissue, digital and genital anomalies and a distinct facial gestalt. Interestingly, in addition, this patient has a large congenital diaphragmatic hernia, as was described in one other patient with a 15q24 microdeletion, indicating that this feature might be part of the syndrome. Chromosome 15q24 has a highly polymorphic architecture that is prone to genomic rearrangements underlying this novel microdeletion syndrome. (C) 2009 Elsevier Masson SAS. All rights reserved.

引用

页码：153 / 156

页数：4

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