Open AccessInterstitial deletion of chromosome 1 (1p21.1p12) in an infant with congenital diaphragmatic hernia, hydrops fetalis, and interrupted aortic arch
Author(s) -
Ibrahim Masitah,
Hunter Matthew,
Gugasyan Lucy,
Chan Yuen,
Malhotra Atul,
Sehgal Arvind,
Tan Kenneth
Publication year - 2017
Publication title -
clinical case reports
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 0.21
H-Index - 9
ISSN - 2050-0904
DOI - 10.1002/ccr3.759
Subject(s) - medicine , hydrops fetalis , congenital diaphragmatic hernia , interrupted aortic arch , diaphragmatic hernia , diaphragmatic breathing , aortic arch , fetus , anatomy , hernia , surgery , pathology , aorta , pregnancy , genetics , alternative medicine , biology
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 .