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

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

Author information

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

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