7816例遗传咨询者细胞遗传学分析

目的探讨本地区前来我院优生遗传门诊咨询者的染色体异常情况，分析染色体异常核型与临床常见疾患的关系，为临床咨询及处理提供相关参考。方法采用本科室制定的外周血淋巴细胞培养技术，G显带技术，核型分析。结果7816例遗传咨询者中，检查出染色体异常者380例。异常检出率为4.8％（380／7816），其中检测出：染色体数目异常213例；染色体嵌合体2l例；染色体易位146例。结论染色体核型异常是导致流产、原发性闭经、智力低下及发育异常的重要原因之一，对有特定临床表现的患者进行染色体分析，对指导临床诊断及优生具有重要意义。

Analysis of 7816 cases of genetic counselors genetics

Objective： Explore the region to come to our hospital chromosome abnormalities of genetic counselors, karyotype analysis of chromosome abnormality in its relationship with clinical common disease, provide reference for clinical consultation and processing.Methods： The undergraduate course room of peripheral blood lymphocyte culture techniques, G banding technique, karyotype analysis. Results： 7816 cases of genetic counselors, check out the chromosome karyotype was abnormal in 380. Anomaly detection rate was 4.8% （380/7816） , of which detect： 213 cases of abnormal chromosome number; Chromosome chimeric 21 cases; Chromosome balanced translocation in 146cases.Conclusion： Abnormal chromosome karyotype is lead to miscarriage, primary amenorrhea, intellect, and one of the important reasons of dysplasia, chromosome analysis was carried out on the patients with specific clinical manifestation, is of great significance to guide clinical diagnosis and eugenics.