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人类染色体核型多态性。III. 正常成年人和智力发育迟缓儿童染色体的常规银染荧光显微镜检查

Human karyotype polymorphism. III. Routine ank fluorescence microscopic investigation of chromosomes in normal adults and mentally retarded children.

作者信息

Mikelsaar A V, Käosaar M E, Tüür S J, Viikmaa M H, Talvik T A, Lääts J

出版信息

Humangenetik. 1975;26(1):1-23. doi: 10.1007/BF00280281.

Abstract

The results of a routine and fluorescence microscopic investigation of chromosomes are presented in 208 normal adults and 141 mentally retarded children (80 with diagnosis of "mental retardation of unknown etiology" and 61 with Down's syndrome). The occurence of both real chromosome aberrations and chromosome variants are presented, with special attention being paid to the chromosome variants. The data obtained show that in all groups studied there is considerable polymorphism of heterochromatic regions that appears to be dependent on sex and connected with the origin of some pathologic conditions.

摘要

本文呈现了对208名正常成年人和141名智力发育迟缓儿童(80名诊断为“病因不明的智力发育迟缓”,61名患有唐氏综合征)进行的常规和荧光显微镜染色体检查结果。文中展示了实际染色体畸变和染色体变异的发生情况,并特别关注了染色体变异。所获数据表明,在所有研究组中,异染色质区域存在相当大的多态性,这种多态性似乎取决于性别,并与某些病理状况的起因有关。

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