Alagille syndrome with de novo del(20) (p11.2).
We report on an Arab boy with Alagille syndrome and a de novo deletion of the short arm of chromosome 20 with a 46,XY, del(20)(p11.2) chromosome constitution. Other reported cases are briefly reviewed.
Teebi
A S
AS
Kuwait Medical Genetics Center, Maternity Hospital.
Murthy
D S
DS
Ismail
E A
EA
Redha
A A
AA
D016738:Alagille Syndrome / Q000235:genetics*; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20; D006801:Humans; D007223:Infant; D008297:Male; D010641:Phenotype