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目的:探讨单纯小Y染色体核型对男性生育障碍的影响及其临床意义。方法:研究对象分为A组(男性不育)及B组(配偶既往不良妊娠史或羊水穿刺示胎儿染色体异常等),比较不同组别间小Y核型的检出率并分析其临床效应。结果:共检出30例小Y核型。其中A组12例,B组18例。两组间小Y核型的检出率没有显著差异(P=0.971)。小Y核型的临床效应为:无精症、少精症、配偶胚胎停育、自然流产等不良妊娠结局。结论:小Y核型可能具备某些潜在的临床效应,可能会对男性生精过程及配偶的不良妊娠结局产生影响,需要在分子生物学及功能基因组学层面继续深入验证。
Objective: To investigate the effect of pure small Y chromosome karyotype on male fertility disorders and its clinical significance. Methods: The subjects were divided into group A (male infertility) and group B (spouse’s past history of adverse pregnancy or amniocentesis showed fetal chromosomal abnormalities). The detection rate of small Y-type in different groups was compared and the clinical effect was analyzed . Results: A total of 30 small Y karyotypes were detected. Of which 12 cases in group A, 18 cases in group B. There was no significant difference in the detection rate of small Y karyotype between the two groups (P = 0.971). The clinical effects of small Y karyotype: azoospermia, oligozoospermia, spouse embryo suspension, spontaneous abortion and other adverse pregnancy outcomes. CONCLUSIONS: Small Y karyotypes may have some potential clinical effects that may have an impact on the process of spermatogenesis and the adverse pregnancy outcomes of males in spite of the need for further validation at the molecular and functional genomics level.