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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

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

Ibrahim Masitah M Hunter Matthew M Gugasyan Lucy L Chan Yuen Y Malhotra Atul A Sehgal Arvind A Tan Kenneth K

Clinical case reports 20170123 2

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. ...[more]

PMID: 28174644

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