Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch.

ABSTRACT: We report a case of an infant with congenital diaphragmatic hernia (CDH) and hydrops fetalis who died from hypoxic respiratory failure. Autopsy revealed type B interrupted aortic arch (IAA). Microarray revealed a female karyotype with deletion of chromosome 1p21.1p12. There may be an association between 1p microdeletion, CDH, and IAA.

SUBMITTER: Ibrahim M 

PROVIDER: S-EPMC5290521 | biostudies-literature | 2017 Feb

REPOSITORIES: biostudies-literature