2058例遗传咨询者外周血染色体核型分析

Chromosome karyotype analysis on 2058 genetic counseling subjects

目的统计遗传咨询人群中染色体异常的类型和发生概率,探讨细胞遗传学检查在临床诊断中的应用价值。方法选取2012年9月至2014年9月在北京市海淀妇幼保健院遗传咨询门诊就诊、要求行染色体核型分析的患者2058例,常规进行外周血淋巴细胞培养、G显带,并行染色体核型分析。分组对检测结果进行统计学分析。结果⑴2058例患者,共检出异常染色体核型84例,异常发生率为4.08%,其中结构异常占77.40%,数目异常占11.90%。⑵在所有分组中,闭经组、无精和少弱精组、家族史组异常检出率最高,分别为50.00%、45.00%、40.00%。⑶染色体正常变异发生率为21.14%。其中,体检组(24.68%)和咨询组(21.00%)的染色体正常变异发生率差异无统计学意义(P=0.438);单次自然流产组(20.67%)和复发性自然流产组(21.53%)染色体正常变异发生率差异无统计学意义(P=0.675)。结论染色体异常是导致性发育异常、不孕不育、智力低下、胎儿畸形、不良孕产史等疾病的重要原因之一。对高危人群进行染色体检查是十分必要的。染色体正常变异与不良孕产次数无明显关系。

Objective：To analyze the types and incidence rates of chromosomal aberrations in cases of genetic counseling,and to explore the application value of cytogenetic test in clinical diagnosis.Method：2058 cases from genetic counseling clinic in Haidian maternal and children health hospital were detected with the methods of regular G-banding and karyotype analysis. Statistics analysis was then carried out in groups. Results：⑴ Among the 2058 cases,84 were detected with chromosome abnormalities（4.08%）,77.40% of which was structural aberrations,11.90% was numerical abnormality. ⑵ Among all groups,the top 3groups having the highest aberration rate were Amenorrhoea group,Aspermatogenic sterility oligo-atheno-terato-apermia group,Abnormal family history group,whose rates respectively were 50.00%,45.00%,40.00%. ⑶ 21.14%of all were detected to have normal chromosomal variants. There was no statistically significant difference between physical-examination group（24.68%）and genetic-counselling group（21.00%）（P=0.438）,neither between single-spontaneous-abortion group（20.67%）and recurrent-spontaneous-abortion group（21.53%）（P=0.675）. Conclusion：Chromosome abnormalities are one of the crucial causes of sexual abnormality,aciesis,infertility,mental retardation,fetal anomaly and abnormal pregnancy. It is necessary to perform cytogenetic tests in people at high risk. Normal chromosomal variants seem not related to abnormal gravity/parity.