Case Reports
doi: 10.1002/ajmg.1320350419.
Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)
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- PMID: 2333885
- DOI: 10.1002/ajmg.1320350419
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Case Reports
Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)
Am J Med Genet.
1990 Apr.
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.
Comment in
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Scope of Alagille syndrome.Am J Med Genet. 1991 May 1;39(2):225. doi: 10.1002/ajmg.1320390223. Am J Med Genet. 1991. PMID: 2063929 No abstract available.
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