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Overview of epidemiology, genetics, birth defects, and chromosome abnormalities associated with CDH
Author(s) -
Pober Barbara R.
Publication year - 2007
Publication title -
american journal of medical genetics part c: seminars in medical genetics
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.419
H-Index - 101
eISSN - 1552-4876
pISSN - 1552-4868
DOI - 10.1002/ajmg.c.30126
Subject(s) - congenital diaphragmatic hernia , etiology , congenital malformations , genetics , chromosome , causation , medicine , biology , pathology , fetus , gene , pregnancy , political science , law
Abstract 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. © 2007 Wiley‐Liss, Inc.