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本文收集了自1984～1994 10年间小儿染色体110例的资料,用全血微量培养法及G显带。检测方法,检出染色体异常病例16例,异常率14.1％。染色体异常中有13例21三体综合片,占总异常病例13/16(异常率82％),3例性染色体异常。 本资料中临床拟诊的15例先天愚型,经染色体核型分析确诊13例,检出率及符合率最高。性染色体异常在110例中亦发现了3例。检查例数最多。最集中的弱智不能上学、学习困难、反应慢、注意力不集中、多功能症等染色体的正常,说明并非与遗传因素有关,却反映了家长对优生优育重视的程度。本文染色体检测目的能够发现异常病例,并对优生优育,提高人口素质有着重要的指导意义。
This article collected from 1984 to 1994 10 years pediatric chromosome data, using whole blood micro-culture method and G banding. Detection method, detected chromosomal abnormalities in 16 cases, the abnormal rate of 14.1%. Chromosomal abnormalities in 13 cases of trisomy 21, the total abnormal cases 13/16 (abnormal rate of 82%), 3 cases of chromosomal abnormalities. This information clinically diagnosed 15 cases of Down’s syndrome, confirmed by chromosome karyotype analysis of 13 cases, the detection rate and the highest coincidence rate. Sex chromosome abnormalities in 110 cases were also found in 3 cases. The largest number of examinations. The most concentrated mentally retarded can not go to school, learning difficulties, slow response, inattention, polyfunction and other chromosomes normal, indicating that genetic factors are not related, but reflects the degree of parental attention to prenatal and postnatal care. In this paper, chromosomal detection can detect abnormal cases, and prenatal and postnatal care, improve the quality of the population has an important guiding significance.