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