摘要
目的对贵州省1218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、抽取外周血,在含25％小牛血清的1640份培养基中培养68-72小时, 低渗、固定、制片、G显带,每例镜下观察30个分裂像,分析3个核型,对异常者加大记数和分析量。结果在1218例遗传咨询中因妊娠胎儿丢失者495例;不孕不育者365例;性发育异常者63例,原发性闭经者53例;智力低下儿143例,孕前进行优生咨询者99例,其中检出染色体核型正常者1142 例,异常者76例,占6．24％。76例异常者中因妊娠胎儿丢失者29例,不孕不育者13例,性发育异常者8例,原发性闭经者7例,智力低下儿18例,孕前进行优生咨询者1例。结论妊娠胎儿丢失、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 in the 1218 cases of genetic counseling in Guizhou province. Methods 1 218 cases were carried on a routine medical inquiry about disease history and physical examination, the sample of blood were incubated for 68--72 hours in 1 640 culture medi- urn which contains 25% calf serum, low osmosis, fixation, make specimen, G staining, 30 division image were observed by microscope for each case, analyse 3 karyotype, and enlarge numeration and the analytic quantity to those abnormal karyotype. Results Among 1 218 cases of genetic counseling, foetus loss because of gestation 495, sterility and infertility 365, abnormal sexual development 63, primary amenorrhea 53, children of mental retardation 143, eugenics counseling before pregnancy 99. Among those cases, normal chromosome karyotype takes up 1 142, abnormal chromosome karyotype takes up 76 （6. 24 %）. In 76 cases of abnormality foetus loss because of gestation 29, sterility and infertility 13, abnormal sexual development 8, primary amenorrhea 7, children of mental retardation 18, eugenics counseling before pregnancy 1. Conclusion Genetic counseling about eugenics before pregnancy, timely knowing of chromosome abnormality and participating in prenatal diagnosis are very important and they can selectively grow healthy offspring.
出处
《贵州医药》
CAS
2006年第3期214-216,共3页
Guizhou Medical Journal
关键词
遗传
咨询
染色体
Heredity Counseling Chromosome
