【摘要】 目的对外周血中单个细胞染色体畸变的畸变类型及其临床表现进行遗传学分析。方法采用外周血常规培养法,培养72h后收获制片,G显带,读片及染色体核型分析,以每30~100个分裂相中找到1个异常染色体核型作为单个细胞染色体畸变的诊断标准。结果13例外周血单个细胞染色体畸变的畸变类型可分为平衡易位、倒位、缺失、重复及X染色体单体等,主要临床表现包括性发育异常、死胎流产及肢体畸形等。结论在遗传咨询中,对单个细胞染色体畸变的临床意义不可忽视,具有这种异常的个体生育后代时应做产前诊断。更多还原

【Abstract】 Objective: To investigate the aberration types and clinical manifestations of individual cell chromosomal aberration in peripheral blood.Methods: Peripheral blood cells were cultured for 72 hours with routine method and slide performed with G banding,and then the slide was read and mode analysis was carried out.The diagnostic standard of individual cell chromosomal aberration was that one abnormal karyotype was found in every 30 to100 mitotic phases.Results: The aberration types of 13 cases of individual cell chromosomal aberration in peripheral blood were balanced translocation,inversion,deletion,duplication,and monosomic X.The main clinical manifestations included abnormal sex development,abortion or dead fetus,and limb deformity.Conclusion: It is an important clinical significance of individual cell chromosomal aberration in genetic counseling.Prenatal diagnosis is necessary for people with such chromosomal aberration in their reproductive actions.更多还原