Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)
- 1 April 1990
- journal article
- research article
- Published by Wiley in American Journal of Medical Genetics
- Vol. 35 (4), 532-535
- https://doi.org/10.1002/ajmg.1320350419
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.Keywords
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