首页   按字顺浏览 期刊浏览 卷期浏览 Fragility of the Centromeric Region of Chromosome 1 Associated with Combined Immunodefi...
Fragility of the Centromeric Region of Chromosome 1 Associated with Combined Immunodeficiency in Siblings A Recessively Inherited Entity?

 

作者: A. FASTH,   E. FORESTIER,   E. HOLMBERG,   G. HOLMGREN,   I. NORDENSON,   T. SÖDERSTRÖM,   J. WAHLSTRÖM,  

 

期刊: Acta Pædiatrica  (WILEY Available online 1990)
卷期: Volume 79, issue 6‐7  

页码: 605-612

 

ISSN:0803-5253

 

年代: 1990

 

DOI:10.1111/j.1651-2227.1990.tb11524.x

 

出版商: Blackwell Publishing Ltd

 

关键词: chromosome instability;multiradials;combined immunodeficiency

 

数据来源: WILEY

 

摘要:

ABSTRACT.Instability of the centromeric region of chromosome 1, and multibranched configurations formed by the short and long arms were seen in a brother and sister with facial dysmorphism, mental retardation and recurrent infections. No chromosomal abnormalities were seen in the parents, who were first cousins. The fragility of chromosome 1 was identified in amniotic fluid cells of the sister. A combined immunodeficiency characterized by a lack of immunoglobulin production, low numbers of T cells and a lack of cells with NK cell markers was diagnosed. This is the first report of familial occurrence of this unique chromosomal aberration. The cause may be an autosomal recessive gene defect.

 

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