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Congenital diaphragmatic hernia in 22q11.2 deletion syndrome
Author(s) -
Unolt Marta,
DiCairano Lauren,
Schlechtweg Kathryn,
Barry Jessica,
Howell Lori,
Kasperski Stefanie,
Nance Michael,
Adzick N. Scott,
Zackai Elaine H.,
McDonaldMcGinn Donna M.
Publication year - 2017
Publication title -
american journal of medical genetics part a
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.064
H-Index - 112
eISSN - 1552-4833
pISSN - 1552-4825
DOI - 10.1002/ajmg.a.37980
Subject(s) - congenital diaphragmatic hernia , diaphragmatic hernia , medicine , digeorge syndrome , deletion syndrome , hernia , diaphragmatic breathing , pediatrics , population , cohort , fetus , surgery , pathology , genetics , pregnancy , biology , psychiatry , gene , phenotype , environmental health , alternative medicine
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.