患有雷特综合征女孩的X染色体失活

X-inactivation in girls with Rett syndrome.

作者信息

Kormann-Bortolotto M H, Woods C G, Green S H, Webb T

机构信息

Department of Clinical Genetics, University of Birmingham, U.K.

出版信息

Clin Genet. 1992 Dec;42(6):296-301. doi: 10.1111/j.1399-0004.1992.tb03259.x.

DOI:10.1111/j.1399-0004.1992.tb03259.x

PMID:1283565

Abstract

Cytogenetic studies have been carried out on a series of nine girls with Rett syndrome, six of their mothers and nine normal female controls. No abnormality of the X-chromosome has been observed in any subject. X-inactivation studies using various methods of detecting the timing of individual band replication were performed. The overall pattern seen was essentially the same in all subjects, but in the patients with Rett syndrome there may be an alteration in the timing of the X-inactivation process in the region Xp11.3 or 4-->Xp21.

摘要

对一系列9名患有雷特综合征的女孩、其中6名女孩的母亲以及9名正常女性对照进行了细胞遗传学研究。在任何受试者中均未观察到X染色体异常。使用各种检测单个条带复制时间的方法进行了X染色体失活研究。所有受试者中观察到的总体模式基本相同，但在雷特综合征患者中，Xp11.3或4至Xp21区域的X染色体失活过程时间可能存在改变。