Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH

被引：134

作者：

Pober, Barbara R. ^{[1
]}

机构：

[1] Harvard Univ, Sch Med, Cambridge, MA 02138 USA

来源：

AMERICAN JOURNAL OF MEDICAL GENETICS PART C-SEMINARS IN MEDICAL GENETICS | 2007年 / 145C卷 / 02期

关键词：

congenital diaphragmatic hernia; Bochdalek hernia; Morgagni hernia; classification; mortality; epidemiology; isolated CDH; syndromic CDH; genetic syndromes; multiplex families; chromosome abnormalities;

D O I：

10.1002/ajmg.c.30126

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Congenital diaphragmatic hernia (CDH) is a common and well-studied birth defect. The etiology of most cases remains unknown but increasing evidence points to genetic causation. The data supporting genetic etiologies which are detailed below include the association of CDH with recurring chromosome abnormalities, the existence of CDH-multiplex families, and the co-occurrence of CDH with additional congenital malformations. (C) 2007 Wiley-Liss, Inc.

引用

页码：158 / 171

页数：14

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