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 Sehgal; Kenneth Tan

doi:10.1002/ccr3.759

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

Clin Case Rep. 2017 Jan 23;5(2):164-169. doi: 10.1002/ccr3.759. eCollection 2017 Feb.

Authors

Masitah Ibrahim¹, Matthew Hunter², Lucy Gugasyan³, Yuen Chan⁴, Atul Malhotra⁵, Arvind Sehgal⁵, Kenneth Tan⁵

Affiliations

¹ Monash Newborn Monash Medical Centre Melbourne Victoria Australia.
² Monash Genetics Monash Medical Centre Melbourne Victoria Australia; Department of Paediatrics Monash University Melbourne Victoria Australia.
³ Cytogenetics Laboratory, Pathology Monash Medical Centre Melbourne Victoria Australia.
⁴ Anatomical Pathology Services Monash Medical Centre Melbourne Victoria Australia.
⁵ Monash Newborn Monash Medical Centre Melbourne Victoria Australia; Department of Paediatrics Monash University Melbourne Victoria Australia; The Ritchie Centre Hudson Institute of Medical Research Clayton Victoria Australia.

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.

Keywords: 1p21.1p12; chromosomal deletion; congenital diaphragmatic hernia; etiology; genetics; hydrops fetalis; interrupted aortic arch.

Publication types

Case Reports