Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.
Publication/Presentation Date
1-1-2017
Abstract
We report the important association of congenital diaphragmatic hernia (CDH) and 22q11.2 deletion syndrome (22q11.2DS). The prevalence of CDH in our cohort of patients with 22q11.2DS is 0.8% (10/1246), which is greater than in the general population (0.025%). This observation suggests that 22q11.2DS should be considered when a child or fetus presents with CDH, in particular when other clinical findings associated with the 22q11.2DS are present, such as congenital cardiac defects. Furthermore, this finding may lead to the identification of an additional locus for diaphragmatic hernia in the general population. © 2016 Wiley Periodicals, Inc.
Volume
173
Issue
1
First Page
135
Last Page
142
ISSN
1552-4833
Published In/Presented At
Unolt M, DiCairano L, Schlechtweg K, Barry J, Howell L, Kasperski S, Nance M, Adzick NS, Zackai EH, McDonald-McGinn DM. Congenital diaphragmatic hernia in 22q11.2 deletion syndrome. Am J Med Genet A. 2017 Jan;173(1):135-142. doi: 10.1002/ajmg.a.37980. Epub 2016 Sep 28. PMID: 27682988.
Disciplines
Medicine and Health Sciences
PubMedID
27682988
Department(s)
Department of Obstetrics and Gynecology
Document Type
Article