保定地区145例染色体异常患者细胞遗传学分析

目的研究不良孕产史、智力低下、不孕不育等疾病的细胞遗传学原因。探讨细胞遗传学检查与优生关系的临床意义。方法采用外周血淋巴细胞培养技术、G显带、每例患者镜下分别计数30个核型,分析核型3~5个,对异常者加倍计数和分析,并按《人类细胞遗传学国际命名体制(ISCN)》的标准命名。结果145例异常核型中,总异常率21.11%。其中不良孕产史检出率8.53%;不孕不育检出率25%;男性少精子或无精子症检出率54.02%;性发育异常检出率31.81%;智力低下发育异常检出率55.84%。结论染色体异常是不良孕产史和不孕不育、智力低下、多发畸形、性发育异常等疾病的重要原因之一,染色体核型分析可以明确病因,指导临床诊断、治疗。

Cytogenetic analysis on 145 abnormal chromosome patients

Objective:To study the cytogenetics factors for the history of pregnancy,hypophrenia and infertility caused by diseases.Discuss the relationship about cytogenetics and prepotency of clinical significance.Methods: Using peripheral blood lymphocyte culture technology,G-banding,each patients were counted 30 karyotype under the microscope,3 to 5 karyotypes were analysed,abnormal were double counted and analysed,and named in accordance with"An International System for Human Cytogenetic Nomenclature(ISCN)".Result...