Congenital bile duct anomalies (biliary atresia) and chromosome 22 aneuploidy.
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.
Allotey
Jacqueline
J
Department of Pediatric Surgery, King's College Hospital, SE5 9RS London, United Kingdom.
Lacaille
Florence
F
Lees
Melissa M
MM
Strautnieks
Sandra
S
Thompson
Richard J
RJ
Davenport
Mark
M
D000782:Aneuploidy; D001656:Biliary Atresia / Q000235:genetics*; D002892:Chromosomes, Human, Pair 22 / Q000235:genetics*; D005260:Female; D006801:Humans; D007231:Infant, Newborn; D008297:Male