贵州省2083例遗传咨询者的细胞遗传学研究和分析

Cytogenetical study and analysis on 2083 cases of genetic counseling in Guizhou

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 cytogenetics of 2 083 cases of genetic counseling in Guizhou.Methods：The cases received conventional medical history inquiry and physical examination,1.5 milliliters venous blood were taken for lymphocyte culture,metaphase chromosome preparation section,G-banding technique was performed;30 karyotypes were counted under microscope for each case,more than 3 karyotypes were analyzed,the count and analytical dose were increased for the cases with abnormal results,naming was performed according to ISCN（1985）.Results：Among 2 083 cases of genetic counseling,840 cases had the history of abnormal pregnancy,631 cases were infertile,108 cases suffered from sexual abnormality,90 cases had primary amenorrhea,241 cases had children with mental retardation,173 cases received birth health counseling before pregnancy,1 954 cases were found with normal chromosomal karyotype,and 129 cases（6.19%） were found with abnormal chromosomal karyotype,including 47 cases of loss of fetus during pregnancy,27 infertile cases,13 cases of sexual abnormality,11 cases of primary amenorrhea,29 cases with mental retardation children and 2 cases receiving birth health counseling before pregnancy.Conclusion：The history of abnormal pregnancy and infertility are the most common causes of genetic counseling,the main type of chromosomal abnormalities is balanced translocation;for the cases with sexual abnormality,dysplasia of secondary sexual characteristics is the main reason of visiting hospital,the main abnormal chromosomal karyotype is 47,XXY.Most of the cases with primary amenorrhea are Turner syndrome;most of the children with mental retardation suffer from 21-trisomy;publicizing and spreading birth health genetic counseling before pregnancy actively,understanding chromosomal abnormalities timely and participating in prenatal diagnosis may give birth to healthy offsprings selectively.