Bertini Veronica, Simi Paolo, Valetto Angelo
Division of Cytogenetics and Molecular Genetics, Azienda Hospital, University of Pisa, via Roma 57, 56100 Pisa, Italy.
J Reprod Med. 2006 Jan;51(1):15-20.
To evaluate the incidence of chromosomal anomalies in a series of unselected infertile men.
Four hundred thirty-five consecutive, unselected men with a history of several years of infertility with or without sperm count anomalies and attending our center for karyotype analysis were included in this study. Peripheral blood metaphases were analyzed by standard G and Q banding. When required, fluorescence in situ hybridization and polymerase chain reaction for analysis of specific Y chromosome regions were performed.
Twenty-three of 435 patients (5.2%) had an abnormal karyotype; 18 of these (4.1%) showed numerical or structural anomalies of the sex chromosomes and 5 (1.1%), anomalies of the autosomes.
Our data confirm the importance of karyotype analysis in infertile men, especially in those with sperm anomalies. This analysis can provide useful information also for patients with long-term infertility and considering assisted reproduction techniques.
评估一系列未经选择的不育男性中染色体异常的发生率。
本研究纳入了435名连续的、未经选择的男性，他们有多年不育史，有或无精子计数异常，并前来我们中心进行核型分析。外周血中期细胞通过标准G带和Q带进行分析。必要时，进行荧光原位杂交和聚合酶链反应以分析特定的Y染色体区域。
435例患者中有23例（5.2%）核型异常；其中18例（4.1%）表现为性染色体数目或结构异常，5例（1.1%）为常染色体异常。
我们的数据证实了核型分析在不育男性中的重要性，尤其是在那些有精子异常的男性中。该分析对于长期不育且考虑辅助生殖技术的患者也能提供有用信息。
