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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