Interstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch.
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.
Monash Newborn Monash Medical Centre Melbourne Victoria Australia.
Masitah
M
Ibrahim
Monash Genetics Monash Medical Centre Melbourne Victoria Australia; Department of Paediatrics Monash University Melbourne Victoria Australia.
Matthew
M
Hunter
Cytogenetics Laboratory, Pathology Monash Medical Centre Melbourne Victoria Australia.
Lucy
L
Gugasyan
Anatomical Pathology Services Monash Medical Centre Melbourne Victoria Australia.
Yuen
Y
Chan
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.
Atul
A
Malhotra
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.
Arvind
A
Sehgal
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.
Kenneth
K
Tan
1p21.1p12; chromosomal deletion; congenital diaphragmatic hernia; etiology; genetics; hydrops fetalis; interrupted aortic arch