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

Masitah Ibrahim, Matthew Hunter, Lucy Gugasyan, Yuen Chan, Atul Malhotra, Arvind Seghal, Kenneth Tan

Research output: Contribution to journalArticleOtherpeer-review

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.
Original languageEnglish
Pages (from-to)164-169
Number of pages6
JournalClinical Case Reports
Volume5
Issue number2
DOIs
Publication statusPublished - Feb 2017

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