Oesophageal atresia with a terminal deletion of chromosome 2q37.1.
We herein report the case of a newborn girl with oesophageal atresia associated with cardiac and gastrointestinal anomalies, including patent ductus arteriosus, tracheomalacia, and gastro-oesophageal reflux with hiatus hernia. In addition, she had a terminal deletion of the long arm of chromosome 2, with a breakpoint of 2q37.1. The patient died following a cardiac arrest at 90 days of age. No cause of death was identified at autopsy.
Masumoto
Kouji
K
Departments of Pediatric Surgery, Reproductive and Developmental Medicine, Graduate School of Medicine, Kyushu University, Fukuoka, Japan.
Suita
Sachiyo
S
Taguchi
Tomoaki
T
D000015:Abnormalities, Multiple / Q000235:genetics; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002889:Chromosomes, Human, Pair 2 / Q000235:genetics*; D004374:Ductus Arteriosus, Patent / Q000235:genetics; D004933:Esophageal Atresia / Q000235:genetics*; D017809:Fatal Outcome; D005260:Female; D006551:Hernia, Hiatal / Q000235:genetics; D006801:Humans; D007223:Infant; D007231:Infant, Newborn; D014133:Tracheal Diseases / Q000151:congenital / Q000235:genetics