9962例不同年龄段的遗传咨询者染色体分析

Karyotype analysis of 9962 heredity consultants in different ages

目的探讨染色体异常核型在不同年龄段的分布情况及特点,从而为染色体病的诊断及相关遗传咨询提供指导。方法收集人外周血,进行淋巴细胞培养,常规G显带技术行染色体核型检查。结果 9962例患者中,检出染色体异常824例,异常率为8.27%,其中0-12岁组病例781例,异常216例,检出率为27.65%,13-22岁组病例812例,异常96例,检出率为11.82%,23-50岁组病例8369例,异常512例,检出率为6.11%。结论不同年龄段染色体异常患者具有不同的临床表现及特点,据此进行染色体检查及遗传咨询具有一定的临床意义。

Objective：To investigate the distributing status of hereditary chromosome diseases in different ages,provide information for clinic making diagnoses of hereditary diseases and reduce hereditary diseases.Methods：Chromosomal karyotype studies were performed on routinely cultured peripheral blood lymphocytes.Slides were processed for G-banding with Trypsin-Giemsa by standard techniques.Results：The results shown that all of the 824（8.27%） in 9962 cases of patients from heredity consultants clinic were abnormal karyotypes.Among them,718 heredity consultants are at the age of 0-12,216 patients with chromosomal abnormalities were found,the ratio was 27.65%,812 heredity consultants are at the age of 12-22,96 patients with chromosomal abnormalities were found,the ratio was 11.82%,8369 heredity consultants are at the age of 23-50,512 patients with chromosomal abnormalities were found,the ratio was 6.11%.Conclusions：Patients with chromosomal abnormalities at different ages have different clinical manifestations,so it is significant for the them to have examination of chromosome and genetic counseling.