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.
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页码：254 / 262
页数：9
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