新疆地区4000例遗传咨询患者细胞遗传学分析

目的统计遗传咨询患者染色体异常的类型和发生概率，研究细胞遗传学检查在临床诊断中的应用价值。方法采用常规外周血淋巴细胞培养及染色体制备，G显带，镜下核型分析。结果4000例遗传咨询患者中共检出染色体异常核型540例，检出率为13.50％。其中唐氏综合征92例，占总数的2.30％；特纳综合征22例，占总数的0.55％；平衡易位38例，占总数的0.95％；罗氏易位12例，占总数的0.30％；染色体倒位76例，占总数的1.90％；常染色体多态性变异216例，占总数的5.40％；Y染色体多态性变异70例，占总数的1.75％；另见染色体部分缺失6例，标记染色体3例，衍生染色体2例。结论染色体核型分析结果是临床诊断及优生优育的重要参考依据；进行遗传咨询、产前筛查和产前诊断可有效降低出生缺陷。

Cytogenetic analysis on 4000 cases of genetic counseling in Xinjiang district

Objective： To analyze the type and incidence rate of chromosomal aberration in cases of genetic counseling and explore the application value of cytogenetic examination in clinical diagnosis. Methods： Cultivate lymphocyte in peripheral blood in nutritive medium, karyotype analysis using G-banding under the microscope. Results： 540 cases of abnormal karyotypes were detected in 4000 cases of genetic eotmseling; its detection rate was 13.50%. In these, 92 cases were Down＇s syndrome with the ratio of 2.30%; 22 cases were Turner＇s syndrome with the ratio of 0.55%; 38 cases were balanced translocation with the ratio of 0.95%： 12 cases were robersonian translocation with the ratio of 0.30%; 76 cases were pericentric with the ratio of 1.90%; 216 cases were autosomal polymorphism variation with the ratio of 5.40%; 70 cases were Y-chromosome polymorphism variation with the ratio of 1.75%; In addition, 6 cases, delete; 3 eases, mark; 1 case, derive. Conclusion： Thetively by genetic counseling, pre result of karyotype analysis is the important reference for clinical diagnosis and prepoteney; birth defects can be reduced effecnatal screening and prenatal diagnosis.