Nijmegen breakage syndrome

被引：158

作者：

vanderBurgt, I

Chrzanowska, KH

Smeets, D

Weemaes, C

机构：

[1] UNIV NIJMEGEN HOSP,DEPT PAEDIAT,6500 HB NIJMEGEN,NETHERLANDS

[2] MEM HOSP WARSAW,CHILD HLTH CTR,DEPT HUMAN GENET,WARSAW,POLAND

来源：

JOURNAL OF MEDICAL GENETICS | 1996年 / 33卷 / 02期

关键词：

Nijmegen breakage syndrome; ataxia telangiectasia;

D O I：

10.1136/jmg.33.2.153

中图分类号：

Q3 [遗传学];

学科分类号：

071007 ; 090102 ;

摘要：

Nijmegen breakage syndrome (NBS), a rare autosomal recessive condition also known as ataxia telangiectasia (AT) variants V1 and V2, is characterised by microcephaly, typical facies, short stature, immunodeficiency, and chromosomal instability. We report the clinical, immunological, chromosomal, and cell biological findings in 42 patients who are included in the NBS Registry in Nijmegen. The immunological, chromosomal, and cell biological findings resemble those in AT, but the clinical findings are quite different. NBS appears to be a separate entity not allelic with AT.

引用

页码：153 / 156

页数：4

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