一位母亲和两个儿子的4号染色体长臂末端缺失。
Terminal deletion of the long arm of chromosome 4 in a mother and two sons.
作者信息
Descartes M, Keppler-Noreuil K, Knops J, Longshore J W, Finley W H, Carroll A J
机构信息
Laboratory of Medical Genetics, University of Alabama at Birmingham 35294-2050, USA.
出版信息
Clin Genet. 1996 Dec;50(6):538-40. doi: 10.1111/j.1399-0004.1996.tb02733.x.
Abstract
Deletion of chromosome 4q31-->pter has been characterized as a distinctive malformation syndrome. We report a mother and two sons with deletion of the long arm (q) of chromosome 4 del(4)(q34.2).
摘要
4号染色体q31至末端缺失已被确定为一种独特的畸形综合征。我们报告了一位母亲和两个儿子，他们都存在4号染色体长臂（q）缺失，即del(4)(q34.2)。
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