由于母亲的相互易位rcp(9;21)(p11;q11)出现不同的3:1分离，导致兄弟姐妹中出现9号染色体短臂三体和异常易位型唐氏综合征。
Trisomy 9p and unusual translocation mongolism in siblings due to different 3:1 segregations of maternal translocation rcp(9;21)(p11;q11).
作者信息
Habedank M, Faust J
出版信息
Hum Genet. 1978 Jun 27;42(3):251-6. doi: 10.1007/BF00291304.
PMID:149755
Abstract
Two sisters are described, each with a specific retardation syndrome due to a balanced reciprocal translocation 9p;21q in the mother. As a result of different 3:1 segregations, one of them has a trisomy 9p with all typical features; the other one reveals a typical Down's syndrome having an unusual translocation karyotype.
摘要
本文描述了一对姐妹，她们各自患有特定的发育迟缓综合征，病因是母亲存在9号染色体短臂与21号染色体长臂的平衡易位。由于不同的3:1分离，其中一个患有具有所有典型特征的9号染色体短臂三体；另一个则表现出具有异常易位核型的典型唐氏综合征。
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