X-INACTIVATION IN GIRLS WITH RETT SYNDROME

被引：0

作者：

KORMANNBORTOLOTTO, MH

WOODS, CG

GREEN, SH

WEBB, T

机构：

[1] UNIV BIRMINGHAM,DEPT CLIN GENET,BIRMINGHAM B15 2TT,W MIDLANDS,ENGLAND

[2] UNIV BIRMINGHAM,DEPT PAEDIAT,BIRMINGHAM B15 2TT,W MIDLANDS,ENGLAND

[3] CHURCHILL HOSP,DEPT MED GENET,OXFORD OX3 7LJ,ENGLAND

来源：

CLINICAL GENETICS | 1992年 / 42卷 / 06期

关键词：

RETT SYNDROME; X-INACTIVATION;

D O I：

暂无

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

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.

引用

页码：296 / 301

页数：6