title: Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)
abstract: 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.
authors.affiliation: Center for Human Genetics, University of Leuven, Belgium.
authors.forename: E
authors.initials: E
authors.lastname: Legius
authors.forename: J P
authors.initials: JP
authors.lastname: Fryns
authors.forename: B
authors.initials: B
authors.lastname: Eyskens
authors.forename: E
authors.initials: E
authors.lastname: Eggermont
authors.forename: V
authors.initials: V
authors.lastname: Desmet
authors.forename: G
authors.initials: G
authors.lastname: de Bethune
authors.forename: H
authors.initials: H
authors.lastname: Van den Berghe
mesh_terms: 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