兰州地区6665例遗传咨询患者外周血淋巴细胞染色体核型分析

6665 cases of karyotype analysis for genetic counseling patients in Lanzhou district

目的分析兰州地区近5年遗传咨询患者中染色体异常核型的发生率。方法采用外周血淋巴细胞培养及染色体制备,G显带,必要时进行C显带,显微镜下进行核型分析。结果 6665例遗传咨询患者,共检出异常染色体核型370例,检出率为5.56%。常染色体异常226例,占异常核型的61.08%,性染色体异常65例,占17.57%,染色体多态变65例,占异常核型的17.57%。结论染色体异常是导致智力低下、不良孕产史、性发育异常等疾病的重要原因之一。

Purpose：Analysis the incidence of abnormal karyotype.Among the patients of chromosome genetic counseling in Lanzhou district in recent 5 years.Methods：G-banding after peripheral blood lymphocyte culture and chromosome preparation.;C-banding when its necessary.Karyotype analysis was done under the microscope.Results： 6665 cases of genetic counseling patients,370 cases of abnormal karyotypes were detected,the detection rate was 5.56%;226 cases of autosomal abnormalities,accounting for 61.08%;Sex chromosome abnormalities were found in 65 cases,accounting for 17.57%;Chromosomal polymorphism changed in 65 cases,accounting for 17.57% abnormal karyotype.Conclution： Chromosomal abnormality was one of the of the important reasons which leads to mental retardation,abnormal pregnancy,sexual development abnormalities.