218例染色体异常者的细胞遗传学分析

目的:对贵州省218例染色体异常者进行细胞遗传学分析,了解染色体异常情况,指导优生优育,提高出生人口素质。方法:对受检者常规询问病史、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:218例异常核型中常染色体数目、结构异常者150例(占68.8%),性染色体数目、结构异常者50例(占22.94%),染色体多态性18例(占8.26%)。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。进行孕前优生遗传咨询,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。

Cytogenetical analysis on 218 cases with chromosomal abnormality

Objective:To carry out cytogenetical analysis on 218 cases with chromosomal abnormality,understand the status of chromosomal abnormality in Guizhou,direct bearing and rearing better children and improve the quality of newborn babies.Methods:All the patients received history-taking and physical examination,then the cytogenetical analysis was carried out,the sequence was cultivation of lymphocytes from 1.5 milliliters venous blood,staining smear examination of metaphase chromosome,G binding and karyotype analysis.Results:Chromosomal abnormalities included: 150 cases of autosomal number and structural abnormality (68.8%),50 cases of heterosomal number and structural abnormality (22.94%),18 cases of chromosomal polymorphism (8.26%).Conclusion:Chromosomal abnormality is related to the history of adverse pregnancy,sterility and dysgenesis,feeblemindedness,abnormality of sexual development and primary amenorrhea.Genetic counseling of pregestational prepotency and understanding the status of chromosomal abnormality are important to clinical treatment and direct bearing and rearing better children.