阿拉吉耶综合征与20号染色体短臂缺失
Alagille syndrome and deletion of 20p.
作者信息
Anad F, Burn J, Matthews D, Cross I, Davison B C, Mueller R, Sands M, Lillington D M, Eastham E
机构信息
Division of Human Genetics, University of Newcastle upon Tyne.
出版信息
J Med Genet. 1990 Dec;27(12):729-37. doi: 10.1136/jmg.27.12.729.
Abstract
We add five cases of 20p deletion to the 10 cases already published. Four had craniofacial, vertebral, ocular, and cardiovascular features of Alagille syndrome, which adds weight to the assignment of this disorder to the short arm of chromosome 20. Included in our series is the first report of familial transmission of a 20p deletion.
摘要
我们在已发表的10例病例基础上又增加了5例20号染色体短臂缺失病例。其中4例具有阿拉吉列综合征的颅面、脊柱、眼部和心血管特征，这进一步支持了将该疾病定位于20号染色体短臂的观点。我们的系列病例中还包括首例20号染色体短臂缺失家族性遗传的报告。
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