401例染色体多态性引起生殖异常分析

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。

Abnormal procreating analysis of 401 cases of chromosomal polymorphism.

Objectives：To investigate the clinical genetic effect of chromosome polymorphism.Methods：From January 2000 to December 2009,4541 cases of abnormal procreating were examined chromosomes and analyzed the relation of chromosomal karyotype and clinical significance.Results：Chromosomal polymorphism were observed in 8.83%（401/4541） of the samples.Of all,there were 105 cases of inv（9）,one cases of inv（1）,one cases of inv（10）,8 cases of 1qh＋,5 cases of 16qh＋,79 cases of large Y chromosome,2 cases of short Y chromosome,1 cases of del（Y）,2 cases of inv（Y）,29 cases of 13p＋,37 cases of 14p＋,37 cases of 15p＋,53 cases of 21p＋,41 cases of 22p＋.Among 401 cases of chromosome polymorphism,5 cases were found azoospermia,50 cases abnormal spermatogenesis,275 cases recurrent miscarriage or early embryonic death,43 cases laboring malformation fetus,12 cases hypoplasis of external genital,11 cases sterility.Conclusion：Chromosomal polymorphism might have clinical genetic effects and lead to abnormal procreating.