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目的探讨桂林地区遗传咨询者染色体异常的特点及临床意义。方法对2015年1月-2016年6月来我院就诊的10126例遗传咨询者进行外周血染色体核型检查。结果 10126例遗传咨询者共检出染色体结构和数目异常352例,检出率为3.48%(352/10126)。其中结构异常230例,检出率为2.27%(230/10126),数目异常122例,检出率1.21%(122/10126)。结论染色体异常在遗传咨询患者中相对较为常见,尤其不孕不育、反复流产、死胎、无精及少弱精子症、原发性闭经、性器官发育异常等患者,非常有必要进行外周血染色体核型检查。
Objective To explore the characteristics and clinical significance of chromosomal abnormalities in genetic counselors in Guilin area. Methods Peripheral blood karyotype examination was performed on 10,126 genetic counselors who came to our hospital from January 2015 to June 2016. Results A total of 352 cases with abnormal chromosome structure and number were detected in 10,126 cases of genetic counseling, the detection rate was 3.48% (352/10126). There were 230 cases with structural abnormalities, with a detection rate of 2.27% (230/10126) and an abnormal number of 122 cases, with a detection rate of 1.21% (122/10126). Conclusion Chromosomal abnormalities are relatively common in patients with genetic counseling, especially in patients with infertility, recurrent spontaneous abortion, stillbirth, azoospermia and oligoasthenospermia, primary amenorrhea, and abnormal sexual organs. It is very necessary to carry out peripheral blood chromosomal nuclear Type inspection