目的:对508例遗传咨询者外周血染色体分析,阐明染色体与疾病的关系,以及作产前诊断的重要性。方法:将外周血在RPMI1640 80％加小牛血清20％的培养液中培养,作染色体G显带染色分析。结果:508例遗传咨询者中,发现异常核型45例,占8.86％,其中数目异常26例,占57.8％,结构异常19例,占42.2％。结论:自然流产与染色体异常有关,而单基因病和多基因病,仅做染色体检查没有意义。 Objective: To analyze the relationship between chromosomes and diseases and the importance of prenatal diagnosis in 508 cases of genetic counseling. Methods: Peripheral blood was cultured in RPMI1640 80% medium supplemented with 20% fetal calf serum for chromosome G banding staining. Results: Of the 508 cases of genetic counseling, 45 cases were found with abnormal karyotype, accounting for 8.86%. Among them, 26 cases were abnormal in number, accounting for 57.8%, and 19 cases were abnormal in structure, accounting for 42.2%. Conclusions: Spontaneous abortion is associated with chromosomal abnormalities. However, single and polygenic diseases are not meaningful for chromosomal examination alone.