5828例遗传咨询者的细胞遗传学分析

Cytogenetical analysis on 5828 cases of genetic counseling patients

目的研究临沂地区遗传咨询患者中染色体异常核型的发生率,探讨染色体异常与疾病发生、发展的关系,为优生优育、降低出生缺陷、提高人口素质服务。方法采用外周血淋巴细胞染色体培养技术,行G显带,必要时进行C显带检查,显微镜下进行核型分析。结果检查5828例遗传咨询患者染色体,就诊原因主要为不良孕产史、不孕不育、原发及继发性闭经、智力低下、先天畸形等,共检出异常染色体核型146种类型805例,检出率为13.81%(805/5828)。检出常染色体结构和数目异常616例,占异常核型的76.52%(616/805),性染色体结构和数目异常189例,占异常核型的23.48%(189/805)。异常的染色体涉及所有24条染色体。结论染色体异常是导致不良孕产史、不孕不育、性发育异常、智力低下等疾病的重要原因之一,对这些病人进行遗传咨询、生育和康复指导非常必要,以达到提高人口素质的目的。

Objective： This study was designed to investigate the incidence of abnormal karyotype in genetic counseling patients, and confer the relationship between chromosomal abnormalities and disease emergence and development from LinYi district. Methods： The peripheral blood lymphocytes were cuhured and analyzed by the G - band technique, or C - band technique when necessary. Resuits： The chromosomal analysis was made in 5828 genetic counseling patients with a history of abnormal pregnancy, infertility, primary and secondary amenorrhea, mental retardation or congenital malformation etc. We found 805 cases of abnormal karyotype with 146 types, the percent is 13.81% （805/5828）. Thereinto, 616 cases were autosomal abnormalities, this percent is 76. 52 % （616/805）, there also had 189 cases of sex chromosome abnormalities, the percent is 23.48 % （189/805）. The abnormal chromosomes include all the 24 chromosomes. Conclusions ： Chromosome abnormalities are one of the important reasons of abnormal pregnancy, infertility, abnormal sexual development and mental retardation etc. It is very necessary to give planning guidance to genetic counseling patients.