Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)
We report on a boy with Alagille syndrome. Chromosome analysis on a peripheral blood lymphocyte culture showed a de novo deletion of the short arm of chromosome 20 with a 46,XY,del(20)(p11.2) chromosome constitution. This is the second report of a del(20p) in a patient with Alagille syndrome. The possible localisation of this autosomal dominant syndrome on 20p is discussed.
Legius
E
E
Center for Human Genetics, University of Leuven, Belgium.
Fryns
J P
JP
Eyskens
B
B
Eggermont
E
E
Desmet
V
V
de Bethune
G
G
Van den Berghe
H
H
D000015:Abnormalities, Multiple / Q000175:diagnosis*; D002779:Cholestasis; D002872:Chromosome Deletion; D002890:Chromosomes, Human, Pair 20; D005145:Face / Q000002:abnormalities; D005183:Failure to Thrive; D006801:Humans; D007231:Infant, Newborn; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D011666:Pulmonary Valve Stenosis; D013131:Spine / Q000002:abnormalities; D013577:Syndrome