DELETION 9P AND SEX REVERSAL

被引：136

作者：

BENNETT, CP

DOCHERTY, Z

ROBB, SA

RAMANI, P

HAWKINS, JR

GRANT, D

机构：

[1] GUYS HOSP,SE THAMES REG GENET CTR,LONDON SE1 9RT,ENGLAND

[2] UNIV CAMBRIDGE,DEPT GENET,CAMBRIDGE CB2 2EH,ENGLAND

[3] HOSP SICK CHILDREN,LONDON WC1N 3JH,ENGLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1993年 / 30卷 / 06期

关键词：

D O I：

10.1136/jmg.30.6.518

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report a case of a female infant with a de novo deletion of the short arm of chromosome 9, sex reversal, and an apparently intact SRY gene. Sex reversal has been reported in a number of subjects with a normal Y chromosome and a deletion of the terminal segment of the short arm of chromosome 9. The factors controlling early development of the male testes are unknown. There are likely to be many genes involved and we present additional evidence that one of these is situated on the end of the short arm of chromosome 9.

引用

页码：518 / 520

页数：3

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