Congenital diaphragmatic hernia in 22q11.2 deletion syndrome

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• 作者：Marta Unolt ; Lauren DiCairano ; Kathryn Schlechtweg ; Jessica Barry ; Lori Howell ; Stefanie Kasperski ; Michael Nance ; N. Scott Adzick ; Elaine H. Zackai and Donna M. McDonald-McGinn
• 刊名：American Journal of Medical Genetics Part A
• 出版年：2017
• 出版时间：January 2017
• 年：2017
• 卷：173
• 期：1
• 页码：135-142
• 全文大小：106K
• ISSN：1552-4833

文摘

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.