与家族性易位相关的12q部分三体综合征
Partial trisomy 12q associated with a familial translocation.
作者信息
Hemming L, Brown R
出版信息
Clin Genet. 1979 Jul;16(1):25-8. doi: 10.1111/j.1399-0004.1979.tb00844.x.
Abstract
A case is described of a female infant, who was trisomic for the terminal bands of the long arm of chromosome 12. Congenital abnormalities were present. Cytogenetic analysis on the proband's parents revealed the father to have a rare, simple translocation involving chromosomes 12 and 18.
摘要
本文描述了一例女性婴儿，其12号染色体长臂末端带三体。该婴儿存在先天性异常。对先证者父母的细胞遗传学分析显示，父亲有一个罕见的涉及12号和18号染色体的简单易位。
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