目的 :分析染色体异常与临床疾病的关系。方法 :应用细胞培养染色体分析技术对 5 5 6例遗传咨询病例进行细胞遗传学检查。结果 :发现 47例染色体结构或数目异常 ,占受检人数的 8.4% ,其中常染色体异常 39例 ,性染色体异常 8例。此外检出 46例 ,XY女性反转综合征 2例。结论 :反复自然流产和不孕不育夫妇及怀疑 Down综合征者应进行染色体检查 Objective: To analyze the relationship between chromosomal abnormalities and clinical diseases. Methods: Cytosolic tests were performed on 556 cases of genetic counseling using cell culture chromosome analysis. Results: The number of chromosomes in 47 cases was abnormal or accounted for 8.4% of the total number of subjects, including 39 cases of autosomal abnormalities and 8 cases of sex chromosome abnormalities. In addition, 46 cases were detected, 2 cases of XY female reversal syndrome. CONCLUSION: Chromosomal tests should be performed on recurrent spontaneous abortion and infertility couples and those suspected of Down syndrome