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目的探讨染色体异态性对生育异常患者的影响。方法 3300例存在生育问题的患者为病例组,3990例进行产前诊断的羊水染色体检查为对照组,分析两组染色体异态性的发生率,结合临床病史进行分析。结果病例组3300例患者,发现256例存在染色体异态性,其发生率为7.75%。对照组3990例羊水标本,87例为多态染色体核型,发生率为2.23%(87/3990)。病例组和对照组均以Y染色体变异最常见。结论存在生育问题患者染色体异态性的发生率较对照组高三倍左右,男性染色体异态性的发生率高于女性患者,病例组多态患者中以少精子症和无精子症最常见。提示染色体异态性对人类生育可能存在一定的影响,尤其影响男性配子的减数分裂,最终导致不育。
Objective To investigate the effect of chromosomal abnormalities on patients with abnormal fertility. Methods 3300 cases of fertility problems in patients with case group, 3990 cases of prenatal diagnosis of amniotic fluid chromosome examination as a control group, analysis of the incidence of chromosomal abnormalities in both groups, combined with clinical history analysis. Results 3300 cases of patients and found 256 cases of chromosomal abnormalities, the incidence was 7.75%. The control group of 3990 cases of amniotic fluid specimens, 87 cases of polymorphic karyotype, the incidence was 2.23% (87/3990). Case group and control group are the most common Y chromosome mutation. Conclusion The prevalence of chromosomal abnormalities in patients with fertility problems is about three times higher than that in the control group. The incidence of chromosomal abnormalities in male patients is higher than that in female patients. Among the polymorphic patients, oligospermia and azoospermia are the most common. Tip chromosomal abnormalities may have some impact on human reproduction, especially affecting male meiosis meiosis, eventually leading to infertility.