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目的:对贵州省2083例遗传咨询者进行细胞遗传学研究和分析。方法:对受检者进行常规病史询问、体格检查、抽取静脉血1.5ml进行淋巴细胞培养,中期染色体制片、G显带处理,每例患者镜下分别计数30个核型,分析核型3个以上,对异常者加大记数和分析量,并按人类细胞遗传学国际命名体制(ISCN,1985)的标准命名。结果:在2083例遗传咨询中不良孕产史者840例;不孕不育者631例;性发育异常者108例;原发性闭经者90例;智力低下儿241例;孕前进行优生咨询者173例;其中检出染色体核型正常者1954例;异常者129例,占6.19%。129例异常者中因妊娠胎儿丢失者47例;不孕不育者27例;性发育异常者13例;原发性闭经者11例;智力低下儿29例;孕前进行优生咨询者2例。结论:不良孕产史、不孕不育是遗传咨询最常见的原因,其染色体异常又以平衡易位为主。性发育异常者,一般以第二性征发育不良为就诊原因,异常染色体核型主要为47,XXY。原发性闭经患者主要为Turner综合征。智力低下儿大部分为21-三体综合征患者。因此,应积极宣传推广孕前进行优生遗传咨询,及时了解染色体异常情况,并参与产前诊断可选择性生育健康后代。
Objective: To study and analyze the genetics of 2083 cases of genetic counseling in Guizhou Province. Methods: The subjects were routine medical history examination, physical examination, 1.5ml venous blood was drawn for lymphocyte culture, metaphase chromosome preparation, G banding treatment, each patient were counted under the microscope karyotype 3, analysis of karyotype 3 Or more, to increase the number of anomalies and analysis of the amount, according to the International Naming System of Human Cytogenetics (ISCN, 1985) standard naming. Results: In the 2083 cases of genetic counseling, 840 cases of adverse pregnancy history, 631 cases of infertility infertility, 108 cases of sexual dysplasia, 90 cases of primary amenorrhea, 241 cases of mental retardation, prenatal counseling 173 cases were detected; 1954 cases with normal karyotype were detected; 129 cases were abnormal, accounting for 6.19%. Among the 129 cases with abnormal fetus, 47 cases were lost due to pregnancy, 27 were infertile, 13 were abnormal sexual development, 11 were primary amenorrhea, 29 were mental retardation, and 2 were prenatal consultation. Conclusion: Maternal history of infertility and infertility are the most common causes of genetic counseling. Chromosomal abnormalities are predominantly balanced translocations. Sexual dysplasia, generally secondary sexual dysplasia for treatment, abnormal karyotype mainly 47, XXY. Primary amenorrhea patients mainly Turner syndrome. Mental retardation most of the 21-trisomy syndrome patients. Therefore, we should actively promote prenatal genetic counseling for prenatal education, timely understanding of chromosomal abnormalities, and participate in prenatal diagnosis of selective reproduction of healthy offspring.