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.


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.

Keywords: 22q11.2 deletion syndrome; 22q11.2DS; DiGeorge syndrome; chromosome 22q11.2 deletion; congenital diaphragmatic hernia; conotruncal anomaly face syndrome; microdeletion syndromes; prenatal diagnosis; velocardiofacial syndrome.

MeSH terms

  • Chromosome Deletion
  • Chromosomes, Human, Pair 22
  • Comparative Genomic Hybridization
  • DiGeorge Syndrome / diagnosis*
  • DiGeorge Syndrome / genetics*
  • Female
  • Genetic Association Studies*
  • Hernias, Diaphragmatic, Congenital / diagnosis*
  • Hernias, Diaphragmatic, Congenital / genetics*
  • Hernias, Diaphragmatic, Congenital / surgery
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Infant, Newborn
  • Male
  • Morbidity
  • Phenotype
  • Pregnancy
  • Prenatal Diagnosis
  • Retrospective Studies