论文部分内容阅读
目的通过染色体核型分析,了解各类遗传咨询者中染色体异常的类型和发生频率。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721例遗传咨询者中,染色体核型异常者36例,检出率4.99%;随体区及异染色质区段变异12例(1.66%)。结论在计生服务开展染色体检查十分必要,对于明确病因,诊断及鉴别诊断具有重要意义,随体区变异、异染色质区段变异的临床意义不容忽视。
Objective To understand the types and frequency of chromosomal abnormalities among various types of genetic counselors through the analysis of chromosome karyotypes. Methods Peripheral blood culture conventional techniques, combined with a variety of banding method for karyotype abnormalities were analyzed. Results Among the 721 cases of genetic counseling, 36 cases were abnormal in karyotype, the detection rate was 4.99%. There were 12 cases (1.66%) with variation of body region and heterochromatin. Conclusion It is necessary to carry out chromosomal examination in family planning service for the clear etiology, diagnosis and differential diagnosis. With the variation of body region, the clinical significance of heterochromatin segment variation can not be ignored.