Congenital diaphragmatic hernia in 22q11.2 deletion syndrome.


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… (More)
DOI: 10.1002/ajmg.a.37980


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