兰州地区464例遗传咨询病人的染色体分析

The chromosome analysis of 464 outpatients for genetic counselling

目的 探讨染色体异常在遗传咨询病人中的发生情况。方法 取受检者外周血进行淋巴细胞培养 ,常规收获制片 ,G显带处理 ,显微镜下进行核型分析。结果 在 4 6 4例病人中共检出染色体异常 2 4例 ,染色体异常检出率为 5 .17% ,其中平衡易位 3例 (12 .5 % ) ,罗伯逊易位 3例 (12 .5 % ) ,倒位 5例 (2 0 .83% ) ,性染色体异常 8例 (33.33% ) ,染色体不平衡易位 5例 (2 0 .83% )。结论 妇产科及生殖内分泌许多疾病与染色体异常有关 ,对这些病人进行染色体检查很有必要。

Objective: To discuss the abnormal chromosome distribution in the heretary outpatients for genetic counselling. Methods: To isolate and culture the lymphocyte in the periphery, harvest and prepare the cells by the standard procedure. After G band preparation, karyotype was analysed. Results: There are 24 chromosome abnormity(5.17%) among the total 464 cases, inculuding 3 banlanced tanslocation(12.5%), 3 Robertsonian translocation(12.5%), 5 inversion(20.83%), 8 sex chromosome abnormity(33.33%), 5 unbalanced translocation(20.83%).Conclusion: Some chromosome abnormity is related with reproductive endocrine diseases, so it is necessary to screen the chromosome abnormity among patients.