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Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)

✍ Scribed by Legius, Eric ;Fryns, Jean-Pierre ;Eyskens, Benedict ;Eggermont, Ephren ;Desmet, Valeer ;de Bethune, Guy ;Van den Berghe, Herman

Publisher
John Wiley and Sons
Year
1990
Tongue
English
Weight
430 KB
Volume
35
Category
Article
ISSN
0148-7299

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✦ Synopsis

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,de1(20)(p11.2) chromosome constitution. This is the second report of a del(2Op) in a patient with Alagille syndrome. The possible localisation of this autosomal dominant syndrome on 20p is discussed.

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