瑞典北部一个县轻度智障儿童的染色体畸变。

K H Gustavson, G Holmgren, H K Blomquist
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摘要

很少有关于轻度智障儿童染色体畸变频率的未选择材料的研究已发表。本文总结了瑞典最北部Västerbotten轻度智力迟钝(MMR)儿童的染色体异常情况。染色体分析按常规方法进行。此外,对没有明确诊断或原因的MMR患儿进行了关于脆性位点的x染色体的调查,并选择了带带技术。对Västerbotten县1959年至1970年间出生的每一个智障儿童进行了追踪。在总共40,871个人中,171人(即每1,000人中有4.2人)被发现患有轻度智力迟钝。染色体畸变在MMR患儿中占11.9%,而在同一人群的161名重度智力迟钝患儿中占39.1%。病因不明的智力迟钝的病例比例很高,特别是在MMR患者中。使用高分辨率条带和其他现代细胞遗传学方法应该可以减少这个数字。
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Chromosomal aberrations in mildly mentally retarded children in a northern Swedish county.

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.

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