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目的探讨具有智力低下、性发育异常、原发闭经及不良孕产史患者染色体异常的发生率及其对临床的指导意义。方法取患者外周血细胞培养72h后制备染色体,常规G显带技术进行细胞遗传学分析,部分病例加用FISH技术,按照“人类细胞学命名的国际体制”进行染色体核型分析。结果1054例咨询患者总的异常检出例数为97例,检出率为9.2%。其中染色体多态性27例,占异常例数的2.5%。性染色体异常18例,占异常染色体的1.9%。常染色体异常52例,占异常核型的53.6%。结论染色体变异包括一些染色体多态性导致的智力低下、生殖异常的临床表现是存在的,所以开展染色体分析是必要的,对于遗传咨询患者的诊断和治疗具有重要意义。
Objective To investigate the incidence of chromosomal abnormalities in patients with mental retardation, sexual dysplasia, primary amenorrhea and poor pregnancy history and its clinical significance. Methods Chromosomes were obtained from the peripheral blood cells of the patients 72h after culture. Conventional G - banding technique was used for cytogenetic analysis. In some cases, FISH was used to analyze the karyotypes according to the International System of Human Cytology. Results The total number of anomalous cases detected in 1054 patients was 97 and the detection rate was 9.2%. Chromosome polymorphism in 27 cases, accounting for 2.5% of the number of anomalies. 18 cases of sex chromosome abnormalities, accounting for 1.9% of abnormal chromosomes. 52 cases of autosomal abnormalities, accounting for 53.6% of abnormal karyotype. Conclusion Chromosomal aberrations include the mental retardation caused by some chromosomal polymorphisms. The clinical manifestations of reproductive abnormalities exist. Therefore, it is necessary to carry out chromosome analysis, which is of great significance for the diagnosis and treatment of genetic counseling patients.