180例遗传咨询者外周血细胞遗传学分析

Cytogenetic analysis of peripheral blood cells in 180 cases of genetic counseling

目的通过外周血染色体分析,探讨不良孕产史、遗传病、性征异常等疾病染色体异常的发生率及其对临床的指导意义。方法采集180例遗传咨询者外周血,用常规方法制备染色体,经G显带后进行染色体核型分析。结果 180例患者中,共检出异常染色体15例,异常检出率为8.33%(15/180)。其中性染色体异常5例,占33.33%;常染色体异常8例,占53.33%;性分化异常2例,占13.33%。结论不良孕产史、性征异常、先天性发育异常、身体多发畸形等患者中染色体异常率高,应对此类人群进行染色体检查,对于患者的诊断、治疗及指导优生优育具有重要意义。

Objective To investigate the incidence of chromosomal abnormality in patients with abnormal pregnancy, genetic disease, and sexual abnormalities, etc through the analysis of peripheral blood chromosome. Methods The blood samples of peripheral blood ofn 180 cases of genetic counseling were collected, and the chromosomes were prepared by the routine method. After the G- banding,the karyotype analysis of the chromosome was carried out. Results Among the 180 patients, 15 ones of chromosome abnormality were detected out,and the detection rate was 8.33% （15/180）. Among the 15 cases,5 were sex chromosome abnormity, which accounted for 33. 33% ; 8 were euchromosome abnormity, which accounted for 53. 33% ; and 2 were sex differentiation abnormality,which accounted for 13.33%. Conclusion The incidence of chromosome abnormality is high in patients with abnormal pregnancy, sexual abnormality, congenital anomalies, and multiple malformations, etc. So it is necessary to examine chromosome among those patients, which has great significance in the diagnosis, treatment, and genetic advice for the patients.