成都地区2745例遗传咨询者的细胞遗传学分析

目的:分析遗传咨询人群中染色体异常的类型和发生频率,探讨染色体核型分析在优生遗传咨询中的重要意义。方法:采用外周血培养常规技术,并结合多种显带方法对核型异常者进行分析。结果:2745例遗传咨询者中,染色体核型异常者138例,检出率为5.03%;随体区及异染色质区段变异43例,占1.57%;另25例发现存在单个细胞染色体结构畸变,占0.91%。结论:遗传咨询群体应视为染色体异常高危人群,对其进行染色体检查具有重要意义。随体区变异、异染色质区段变异及单个细胞染色体结构异常的临床意义不容忽视。

Cytogenetic study on 2 745 genetic consultants in Chengdu

Objective:To analyze the type and incidence of chromosomal abnormalities among genetic consultants,and investigate the significance of analysis of chromosomal karyotype applied in genetic counsel.Methods:Routine culture for the peripheral blood lymphocytes of 2 745 genetic consultants were made and bands karyotype were analysed.Results:The overall incidence of chromosomal abnormality was 5.03%(138/2 745).43 cases(1.57%) with mutation in satellite zone and heterochromatic zone were found.25 cases(0.91%) had somatic mutation.Conclusion:Cytogenetics detection is necessary for genetic counselees,which can be helpful for prenatal diagnosis.It is necessary to detect mutation in satellite zone and heterochromatic zone and somatic mutation.