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目的探讨大Y染色体核型的临床意义。方法常规外周血细胞培养和染色体标本制备,并对染色体核型进行分析。结果98例大Y染色体核型中,其妻曾生育出生缺陷儿者27例,占36%;不明原因不育者22例,占29.3%;其妻有自然流产史者10例,占13.3%;无精症7例,占9.3%;少精症4例,占5.3%;弱精症3例,占4%;23例无临床症状,占23.5%。结论大Y染色体核型可能有一定的临床效应。
Objective To investigate the clinical significance of large Y chromosome karyotype. Methods Peripheral blood cultures and preparation of chromosome specimens were performed. The karyotypes of chromosomes were analyzed. Results Among the 98 cases of large Y chromosome karyotype, 27 cases had 36 birth defects in their wives, accounting for 29.3%; 22 cases had unexplained infertility, 10 cases had their own history of spontaneous abortion, accounting for 13.3% ; Azoospermia in 7 cases, accounting for 9.3%; oligospermia in 4 cases, accounting for 5.3%; asthenospermia in 3 cases, accounting for 4%; 23 cases without clinical symptoms, accounting for 23.5%. Conclusion Large Y chromosome karyotype may have some clinical effect.