Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch. Issue 2 (23rd January 2017)

• Record Type: Journal Article
• Authors: Ibrahim, Masitah; Hunter, Matthew; Gugasyan, Lucy; Chan, Yuen; Malhotra, Atul; Sehgal, Arvind; Tan, Kenneth
• Is Part Of: Clinical case reports. Volume 5:Issue 2(2017)
• Page Start: 164
• Page End: 169
• Publication Date: 2017-01-23
• Subjects: 1p21.1p12 -- chromosomal deletion -- congenital diaphragmatic hernia -- etiology -- genetics -- hydrops fetalis -- interrupted aortic arch; Medicine -- Periodicals; 616.09
• DOI: 10.1002/ccr3.759
• Languages: English
• ISSNs: 2050-0904

Abstract

Key Clinical Message: 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. 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.