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CYTOGENETIC ANALYSIS IN INFERTILE MALES WITH SPERM ANOMALIES

机译:患有异常精子的不育男性的细胞遗传学分析

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Objective: In a half of all childless partnerships the infertility is caused by the male. Chromosomal abnormalities are more prevalent in infertile men compared to fertile men. Chromosomal abnormalities are known to be associated with spermatogenetic failure. Present study investigates the frequency and types of both major chromosomal abnormalities by using standard cytogenetic methods in infertile men with sperm anomalies.Materials and Methods: A total of 214 infertile males (138 were azoospermic, 76 oligospermic) were studied for the cytogenetic evaluation. Chromosomal analysis of peripheral blood lymphocytes was performed according to standard protocols.Results: Of the 214 infertile men, 24 (11.2%) had a chromosomal abnormality in the form of a Klinefelter syndrome/variant (16/24; 7.5%), XYY syndrome (1/24; 0.5%), XX male syndrome (1/24; 0.5%), 45,X, mar(Y) (1/24; 0.5%), 46,XX, inv(Y)(p11q11) (1/24; 0.5%), 46,XY, der(1)t(1;5)(p33;qter) (1/24; 0.5%), 46,XY, t(15;15) (1/24; 0.5%) and 46,XY,t(14;21) (1/24; 0.5%).Conclusions: This study shows chromosomal anomalies were found in 11.2% of the infertile men. The potential risk of transmitting these genetic disorders to offspring provides a rationale for screening infertile men prior to ICSI. In addition, genetic screening and counseling should be offered to infertile patients routinely.
机译:目的:在所有无子女伴侣中,有一半是男性引起的。与可育男性相比,染色体异常在不育男性中更为普遍。已知染色体异常与生精失败有关。本研究采用标准的细胞遗传学方法,对不育精子异常的两个主要染色体异常的发生频率和类型进行研究。材料与方法:共研究了214名不育男性(无精子症138例,少精子症76例),以进行细胞遗传学评估。结果:按照标准方案对外周血淋巴细胞进行染色体分析。结果:在214名不育男性中,有24名(11.2%)患有以Klinefelter综合征/变异(16/24; 7.5%),XYY综合征形式的染色体异常(1/24; 0.5%),XX男性综合症(1/24; 0.5%),45,X,mar(Y)(1/24; 0.5%),46,XX,inv(Y)(p11q11)( 1/24; 0.5%),46,XY,der(1)t(1; 5)(p33; qter)(1/24; 0.5%),46,XY,t(15; 15)(1/24 ; 0.5%)和46,XY,t(14; 21)(1/24; 0.5%)。结论:这项研究表明,在11.2%的不育男性中发现了染色体异常。将这些遗传疾病传播给后代的潜在风险为筛查ICSI之前的不育男性提供了依据。此外,应定期向不育患者提供基因筛查和咨询。

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