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瑞典北部某郡轻度智力发育迟缓儿童的染色体畸变

Chromosomal aberrations in mildly mentally retarded children in a northern Swedish county.

作者信息

Gustavson K H, Holmgren G, Blomquist H K

机构信息

Department of Clinical Genetics, University Hospital, Uppsala, Sweden.

出版信息

Ups J Med Sci Suppl. 1987;44:165-8.

PMID:2965442
Abstract

Few studies of the frequency of chromosomal aberrations in an unselected material of mildly mentally retarded children have been published. The present paper summarizes the chromosomal abnormalities in children with mild mental retardation (MMR) in Västerbotten in the northernmost part of Sweden. Chromosome analyses were carried out by routine methods. In addition, children whose MMR had no clear diagnosis or cause were investigated as regarding X-chromosomes with a fragile site and selected cases with banding techniques. Every mentally retarded child born between 1959 and 1970 in the county of Västerbotten was traced. Out of a total number of 40,871 individuals, 171, i.e. 4.2 per 1,000, were found to be mildly mentally retarded. Chromosomal aberrations were seen in 11.9% of the children with MMR, compared with 39.1% of the 161 children with severe mental retardation (SMR) in the same population. The proportion of cases with mental retardation of unknown etiology is high, especially amongst those with MMR. The use of high resolution banding and other modern cytogenetic methods should reduce this figure.

摘要

关于轻度智力发育迟缓儿童非选择性样本中染色体畸变频率的研究鲜有发表。本文总结了瑞典最北部韦斯特博滕地区轻度智力发育迟缓(MMR)儿童的染色体异常情况。采用常规方法进行染色体分析。此外,对那些MMR没有明确诊断或病因的儿童进行了X染色体脆性位点检测,并对部分病例采用了显带技术。追踪了1959年至1970年在韦斯特博滕县出生的每一名智力发育迟缓儿童。在总共40871人中,发现171人轻度智力发育迟缓,即每1000人中有4.2人。MMR儿童中11.9%存在染色体畸变,而同一人群中161名重度智力发育迟缓(SMR)儿童这一比例为39.1%。病因不明的智力发育迟缓病例比例很高,尤其是在MMR儿童中。使用高分辨率显带和其他现代细胞遗传学方法应能降低这一数字。

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