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目的:对贵州省131例染色体异常者进行细胞遗传学分析,以指导优生优育。方法:对受检者询问病史、体格检查、抽取静脉血进行淋巴细胞培养,中期染色体制片、G显带处理,每例患者镜下计数30个核型,分析核型3个以上,对异常者加大计数和分析量,并按人类细胞遗传学国际命名体制(ISCN,1985)的标准命名。结果:131例异常核型中常染色体数目、结构异常者97例(占74.05%),性染色体数目、结构异常者30例(占22.9%),染色体多态性4例(占3.1%)。结论:染色体异常与不良孕产史、不孕不育、智力低下、性发育异常、原发性闭经等有密切关系。孕前优生遗传咨询,及时了解染色体异常情况,对临床治疗及优生具有极其重要的指导意义。
Objective: Cytogenetic analysis was performed on 131 cases of chromosomal abnormalities in Guizhou Province to guide prenatal and postnatal care. Methods: The subjects were asked for medical history, physical examination, venous blood for lymphocyte culture, metaphase chromosome preparation and G-banding treatment. Each patient counted 30 karyotypes microscopically, analyzed more than 3 karyotypes, Increased counting and analysis, according to the standard of the International Naming System for Human Cytogenetics (ISCN, 1985). Results: There were 97 cases (accounting for 74.05%) of the 131 cases with abnormal karyotype, 30 cases (22.9%) with sex chromosome abnormalities, and 4 cases (3.1%) with chromosomal polymorphism. Conclusion: Chromosomal abnormalities are closely related to the history of adverse pregnancy, infertility, mental retardation, sexual dysplasia and primary amenorrhea. Prenatal genetic counseling, timely understanding of chromosomal abnormalities, clinical treatment and eugenics has an extremely important guiding significance.