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
|