目的分析染色体多态性与不孕不育患者之间临床效应关系。方法对4541例不孕不育患者进行常规外周血染色体核型分析。结果 4541例不孕不育患者检出染色体多态401例,检出率8.83%。其中inv(9)105例,inv(1)1例,inv(10)1例,1qh+8例,16qh+5例,大Y79例,小Y2例,Y长臂缺失1例,inv(Y)2例,13号大随体29例,14号大随体37例,15号大随体37例,21号大随体53例,22号大随体41例。患者临床表现为无精子症者5例,占1.25%,精子密度<10×106/ml 50例,占12.47%;反复自发流产、胎儿停止发育275例,占68.58%;畸形儿分娩史43例,占10.72%;智力低下、发育异常5例,占1.25%;男性或女性生殖器发育不良12例,占2.99%;不孕11例,占2.74%。结论染色体多态性与生殖异常存在明显的关系,不能忽视其临床效应。 Objective To analyze the relationship between chromosome polymorphism and infertility patients. Methods 4541 cases of infertility patients with conventional peripheral blood chromosome karyotype analysis. Results 4541 cases of infertility patients detected polymorphism in 401 cases, the detection rate of 8.83%. Among them, 105 cases of inv (9), 1 case of inv (1), 1 case of inv (10), 1 case of qq and 8 case of 16qh, 5 case of large Y79 case and 2 cases of small Y arm, ) In 2 cases, 13th large astigmatism in 29 cases, 14th large astigmatism in 37 cases, 15th large astigmatism in 37 cases, 21th large astigmatism in 53 cases and 22th large astigmatism in 41 cases. Clinical manifestations of patients with azoospermia in 5 cases, accounting for 1.25%, 50 cases of sperm density <10 × 106 / ml, accounting for 12.47%; repeated spontaneous abortion, fetal development stopped 275 cases, accounting for 68.58%; deformed childbirth 43 cases history , Accounting for 10.72%; mental retardation, dysplasia in 5 cases, accounting for 1.25%; male or female genital hypoplasia in 12 cases, accounting for 2.99%; infertility in 11 cases, accounting for 2.74%. Conclusion There is a clear relationship between chromosomal polymorphism and reproductive abnormalities, and its clinical effect can not be ignored.