一名6岁女孩的8号染色体短臂21.3至23.1区间的间质缺失
Interstitial deletion 8p21.3----p23.1 in a 6-year-old girl.
作者信息
Morrison P J, Jones J, Nevin N C
机构信息
Department of Medical Genetics, Queen's University of Belfast, Northern Ireland.
出版信息
Am J Med Genet. 1992 Mar 1;42(5):678-80. doi: 10.1002/ajmg.1320420510.
PMID:1632437
Abstract
We present a 6-year-old mentally retarded girl. Chromosome analysis showed an interstitial deletion of chromosome 8; 46,XX,del(8) (pter----p23.1::p21.3----qter). The proposita had normal activities of glutathione synthetase reductase (GSR) and factor VII. Parental chromosomes were normal.
摘要
我们报告一名6岁的智力发育迟缓女孩。染色体分析显示8号染色体存在中间缺失；核型为46,XX,del(8)(pter----p23.1::p21.3----qter)。该患者谷胱甘肽合成酶还原酶（GSR）和凝血因子VII活性正常。其父母染色体正常。
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