Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)
Alagille syndrome (arteriohepatic dysplasia) and del(20)(p11.2)
复制标题
Alagille 综合征（肝动脉发育不良）和 del(20)(p11.2)
DOI：
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发表时间：
1990
期刊：
影响因子：
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通讯作者：
H. V. D. Berghe
中科院分区：
文献类型：
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作者：
Eric Legius;J. Fryns;B. Eyskens;Ephren Eggermont;Valeer Desmet;Guy de Bethune;H. V. D. Berghe
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.
