论文部分内容阅读
目的:对西宁地区45例外周血染色体异常核型和临床表现资料进行回顾性分析,了解遗传咨询中的疾病类型和染色体异常核型分布。方法:采集外周血(1～2)mL,置于37℃恒温培养箱中培养72h,培养完成后再经低渗固定,收获中期分裂相细胞,制片,胰酶消化做G显带处理。结果:对45例异常核型进行分析,常染色体结构及数目异常20例,性染色体结构和数目异常11例,染色体异态14例,异常核型占染色体数目的 32.6%。结论:染色体异常是导致自然流产、胚胎停止发育、不良孕产史和不孕不育及发育异常的重要原因,对这些患者进行遗传咨询、生育和康复指导非常必要。
Objective: To retrospectively analyze the karyotypes and clinical manifestations of peripheral blood chromosomal abnormalities in 45 cases of Xining region, so as to understand the types of diseases and the karyotype distribution of chromosomal abnormalities in genetic counseling. Methods: Peripheral blood (1-2 mL) was collected and incubated in a constant temperature incubator at 37 ° C for 72 h. After completion of culture, the medium was dissected and harvested. Results: There were 20 cases with abnormal autosomal structure and number, 11 cases with abnormal sex chromosome structure and chromosome number, 14 cases with chromosomal abnormalities and 32.6% with abnormal karyotype. Conclusion: Chromosomal abnormalities are the main causes of spontaneous abortion, the development of embryo stop, the history of poor pregnancy, infertility and dysplasia. It is necessary for these patients to receive genetic counseling, fertility and rehabilitation guidance.