Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy.

Abstract

Biliary atresia is a disease of unknown etiology but not usually thought to have a significant genetic predisposition. We report 5 infants with various forms of chromosome 22 aneuploidy as follows: 2 infants who have classical cat-eye syndrome, 2 who have partial duplication of chromosome 22 (supernumerary der(22) syndrome), and 1 who is mosaic for trisomy 22. All of these infants had significant congenital bile duct anomalies (specifically biliary atresia, n = 4)-that was the most important component of their clinical presentation. We consider whether this has possible implications about the genetic contribution to the etiology of biliary atresia.

• Authors: Jacqueline Allotey, Florence Lacaille, Melissa M Lees, Sandra Strautnieks, Richard J Thompson, Mark Davenport
• Journal: Journal of pediatric surgery (J Pediatr Surg) Vol. 43 Issue 9 Pg. 1736-40 (Sep 2008) ISSN: 1531-5037 [Electronic] United States
• PMID: 18779018 (Publication Type: Case Reports, Journal Article)

Topics

• Aneuploidy
• Biliary Atresia (genetics)
• Chromosomes, Human, Pair 22 (genetics)
• Female
• Humans
• Infant, Newborn
• Male