FAMILIAL PARTIAL TRISOMY-8P WITHOUT DYSMORPHIC FEATURES AND ONLY MILD MENTAL-RETARDATION

被引：32

作者：

ENGELEN, JJM ^{[1
]}

DEDIESMULDERS, CEM ^{[1
]}

SIJSTERMANS, JMJ ^{[1
]}

MEERS, LEC ^{[1
]}

ALBRECHTS, JCM ^{[1
]}

HAMERS, AJH ^{[1
]}

机构：

[1] DE WEVER HOSP,DEPT PEDIAT,HEERLEN,NETHERLANDS

来源：

JOURNAL OF MEDICAL GENETICS | 1995年 / 32卷 / 10期

关键词：

D O I：

10.1136/jmg.32.10.792

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

We report on a mother and her two sons who had a direct duplication of chromosome region 8p22-8p23.1 without dysmorphic features and only mild mental retardation. The patients have been studied using G banding, chromosome painting, and FISH using cosmid probes specific for the region 8p23.1-8pter. Comparison of the phenotypes of our patients and of published patients with an inversion duplication of the short arm of chromosome 8 indicates that trisomy for chromosome band 8p21 causes the more severe clinical picture in the latter.

引用

页码：792 / 795

页数：4

共 31 条

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