目的探讨9号染色体倒位和重复的临床效应。方法应用常规细胞遗传学方法分析患者核型,用流式细胞术分析男性患者精子染色体的倍性组成。结果检测出inv(9)核型,其配子流式分析中发现DNA量异常增加和减少的细胞群。结论结合资料分析,认为inv(9)会产生遗传物质部分重复或缺失的配子,导致不同的临床效应,对可能涉及的基因进行了总结分析。 Objective To investigate the clinical effect of chromosome 9 inversions and repetitions. Methods The karyotypes of patients were analyzed by conventional cytogenetics. The ploidy of sperm chromosomes in male patients was analyzed by flow cytometry. As a result, the inv (9) karyotype was detected. In the gamete flow cytometry, an abnormally increased and decreased DNA pool was found. Conclusions According to the data analysis, it is considered that inv (9) will produce gametes with partial duplication or deletion of genetic material, leading to different clinical effects and summarizing the possible genes involved.