Rasmussen K, Nielsen J, Dahl G
Clin Genet. 1982 Nov;22(5):244-55. doi: 10.1111/j.1399-0004.1982.tb01441.x.
A cytogenetic survey of an unselected group of mentally retarded persons in a geographically limited area was made in order to establish the frequency of chromosome abnormalities within this group. In the area there were 2,157 patients, both institutionalized and living at home. A chromosome analysis was performed in 1905 cases; 359 (18.8%) of these had a chromosome anomaly: 281 (14.7%) Down's syndrome, 45 (2.4%) autosomal anomaly other than Down's, and 33 (1.8%) sex chromosome anomaly. The frequency of chromosome aberrations in relation to the whole group was higher compared with similar surveys, which leads to the conclusion that the total number of mentally retarded persons living within a limited area is determined by many factors. This means that a comparison between frequencies of abnormal chromosomes in an unselected group of mentally retarded persons is only relevant when related to the whole population living in the investigation area.
为确定某一地理区域内未经挑选的智障人群中染色体异常的发生率,我们对该群体进行了细胞遗传学调查。该地区共有2157名患者,包括在机构照料的和居家生活的。对其中1905例进行了染色体分析;其中359例(18.8%)存在染色体异常:281例(14.7%)为唐氏综合征,45例(2.4%)为非唐氏综合征的常染色体异常,33例(1.8%)为性染色体异常。与类似调查相比,该群体中染色体畸变的发生率更高,由此得出结论,有限区域内智障人群的总数受多种因素影响。这意味着,未经挑选的智障人群中异常染色体频率的比较,只有在与调查区域内的全体人口相关时才有意义。