清远地区976例细胞遗传学实验诊断与临床分析

The Laboratory Diagnosis of Cytogenetics and Clinical Analysis of 976 Persons in Qingyuan Region

目的 :通过对清远地区 976例细胞遗传及临床资料分析 ,以了解该地区染色体病在临床常见疾病中的发生率、相关性及异常核型。方法 :常规外周血淋巴细胞及羊水细胞培养 ,收获制片、胰酶消化 G显带核型分析。结果 :发现异常核型 79例 ,其中常染色体数目和结构异常 4 7例 ,性染色体异常 2 7例 ,异常率分别为 5 9.4 9%及 4 0 .5 1% ;异常核型涉及到 3、9、13、14、16、18、2 0、2 1、2 2、X、Y共 11条染色体共计 2 6种核型。结论 :两性畸形、先天愚型、男性不育症染色体病风险率高 ;染色体异常是导致闭经、不孕、流产及病理妊娠不可忽略的重要因素。

Objective:To explore the incidence of chromosome disorder,correlation and abnormal chromosome karyotype in clinical common diseases in Qingyuan region.Methods:The lymphocytes in the periphery blood and amniotic fluid were cultured routinely,then the cells were harvested and G band and karyotype analysis were performed.Results:There were 79 chromosome disorders including 47 autosome and 27 sexual chromosome (59.49% and 40.51%).Abnormal karyotype involved 11 chromosomes (3、9、13、14、16、18、20、21、22、X、Y ) and amounted to 26 karyotypes.Conclusion:Amphoteric abnormalities, Down′s syndrome and male infertility had a high risk of chromosome .The Chromosome disorder should be one of the basic causes of amenorrhea,infertility, abortion and disfavorable pregnancy.