福州地区1544例遗传咨询者的染色体核型回顾性分析

Retrospective analysis of chromosome karyotypes of 1544 genetic counselors in Fuzhou

目的回顾性分析福州地区1544例遗传咨询者外周血染色体异常核型类型、发生率以及相应的临床表现。方法采用人外周血淋巴细胞培养法,常规制备染色体标本,G显带技术,吉姆萨染色,进行人类细胞遗传学染色体核型分析。结果共检出异常核型312例,检出率20.21%。结论遗传咨询者中异常核型发生率比较高,异常核型与不孕不育、不良孕史、原发闭经、发育迟缓、智力障碍密切相关。

Objective:To retrospectively analyze the karyotype types,incidence and clinical manifestations of chromosome abnormalities in peripheral blood of 1544 genetic counselors in Fuzhou area.Methods:Human peripheral blood lymphocyte culture method was used to prepare chromosome sample routinely,G-danding technique and Jimsa staining were used to analyze the karyotype of chromosome abnormalities in 1544 genetic counselors.Results:A total of 312 cases of abnormal karyotypes were detected with a detection rate of 20.21%.Conclusion:The incidence of abnormal karyotypes is high among genetic counselors.Abnormal karyotypes are closely related to infertility、negative reproductive history、primary amenorrhea、retardation of development and mental retardation.