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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 distribution and characteristics of karyotypes of chromosomal abnormalities at different ages so as to provide guidance for the diagnosis of chromosomal diseases and related genetic counseling. Methods Human peripheral blood was collected for lymphocyte culture. Conventional G - banding technique was used to perform chromosome karyotype examination. Results Among 9962 patients, 824 chromosomal abnormalities were detected, with an abnormality rate of 8.27%. Among them, 781 cases were diagnosed in 0-12 years old group, 216 cases were abnormal, the detection rate was 27.65%, 812 cases in 13-22 years old group were abnormal 96 cases, the detection rate was 11.82%, 8369 cases of 23-50 years old group, 512 cases were abnormal, the detection rate was 6.11%. Conclusion There are different clinical manifestations and characteristics of patients with chromosomal abnormalities at different ages. Therefore, it is of clinical significance to carry out chromosome examination and genetic counseling.