PARTIAL MONOSOMY-8P WITH MINIMAL DYSMORPHIC SIGNS

被引：34

作者：

BLENNOW, E ^{[1
]}

BRONDUMNIELSEN, K ^{[1
]}

机构：

[1] KAROLINSKA HOSP,DEPT CLIN GENET,POB 60500,S-10401 STOCKHOLM 60,SWEDEN

来源：

JOURNAL OF MEDICAL GENETICS | 1990年 / 27卷 / 05期

关键词：

D O I：

10.1136/jmg.27.5.327

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

A female patient with a 46,XX,del(8)(p23→pter) karyotype is presented. She was mentally retarded and showed a few dysmorphic features. Her red cell glutathione reductase level was within normal limits. This terminal deletion, on the short arm of chromosome 8, appears to be the smallest segment hitherto reported.

引用

页码：327 / 329

页数：3

共 13 条

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