X-15 TRANSLOCATION IN A RETARDED GIRL - X INACTIVATION PATTERN AND ATTEMPT TO LOCALIZE THE HEXOSAMINIDASE-A AND OTHER LOCI

被引：25

作者：

BERNSTEIN, R

DAWSON, B

KOHL, R

JENKINS, T

机构：

[1] UNIV WITWATERSRAND,JOHANNESBURG 2001,SOUTH AFRICA

[2] STATE HOSP WINDHOEK,DEPT PAEDIAT,WINDHOEK,NAMIBIA

来源：

JOURNAL OF MEDICAL GENETICS | 1979年 / 16卷 / 04期

关键词：

D O I：

10.1136/jmg.16.4.254

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Cytogenetic studies on a retarded girl showed a complex X;15 translocation, karyotype 45,X,-15,+t(X;15). The translocation X chromosome was non-randomly partially inactivated, the inactivation being mainly confined to the X segment and in some cells only to the X long arm. Gene marker studies failed to show anomalous segregation of the hexosaminidase A gene or any other gene markers tested.

引用

页码：254 / 262

页数：9

共 30 条

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