500例遗传咨询病人的外周血淋巴细胞核型分析

目的：对染色体异常患者进行核型分析．为人类染色体病的研究和临床提供诊断依据。方法：对500例病人采用了常规人类外周血淋巴细胞培养法制备染色体标本并进行G显带核型分析。结果：检出异常核型123例，占受检病例的24．6％。其中智力低下70例(56．9％)．流产27例(21．9％)，性腺发育不全21例(17．1％)，不良生育史5例(4．1％)。结论：染色体异常患者中智力低下和流产严重危害我区人口素质，应引起高度重视。

A karyotypes analysis of lymphocyte in peripheral blood of 500 cases with suspicious chromosome aberrations

Objective: To analyse the karyotypes with suspicious chromosome aberrations and to provide the bases on the diagnosis for study the human chromosomal diseases and also for clinical. diagnosiso Methods: The karyotypes analysed by chromosome banding which is the standard method for identifying numerical and structural chromosomal aberrations in cytogenetics laboratories. We used general G banding cytogenetic technics to diagnose 500 cases from the clinical service of the genetic counseling and also from the inpatients. Results: There were 123 abnormal karyotypes among the 500 cases (24.6%). There were 70 cases of mental retardation (56.9%); 27 cases of abortion (21.9%), 21 cases of gonadal dysgenesis (17.1%), 5 cases of patients who had the history of abnormal birth (4.1%). Conclusion: The results suggest that mental retardation and abortion amongst the patients affect badly to hereditary predisposition of the population in Xinjiang. Enough attention should be paid to such situation.