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Y Chromosome Microdeletions in 34 Cryptorchidism Patients

机译:Y染色体微缺失34隐睾症患者

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Purpose: In this study, the molecular analysis of Y chromosome in 34 cryptorchidism patients was studied. Methods: Thirty-four cryptorchid children who underwent orchidopexy were included in this study. Peripheral blood sample of 34 patients was collected and Y chromosome microdeletions were detected by PCR amplification of the Y chromosome specific genes and sequence tagged sites. Results: Among cryptorchid patients, 19 were affected by bilateral and 15 by unilateral maldescent. Four patients (11.7%) showed a deletion of one or more STS. The prevalence of Y chromosome microdeletions was greater in patients with a history of bilateral cryptorchidism (3 of 19, 15.8%) than that observed in those with unilateral cryptorchidism (1 of 15, 6.7%). Conclusions: It is important to undergo sperm cryopreservation for assisted reproduction in these patients and the diagnosis of AZF microdeletion should be offered to the couples undergoing assisted reproduction, since it is possible to transmit the genetic anomaly to the male offspring.
机译:目的:本研究对34例隐睾症患者的Y染色体进行了分子分析。方法:本研究纳入了34例接受兰花科手术的隐睾儿童。收集34例患者的外周血样本,并通过PCR扩增Y染色体特异性基因和序列标记位点检测Y染色体微缺失。结果:在隐睾患者中,19例受双侧影响,15例受单侧畸形影响。四名患者(11.7%)显示一个或多个STS缺失。有双侧隐睾病史的患者中Y染色体微缺失的患病率更高(19例中的3例,占15.8%)比单侧隐睾症的患者(15例中的1例,占6.7%)更高。结论:对这些患者进行精子冷冻保存对于辅助生殖很重要,并且应向进行辅助生殖的夫妇提供AZF微缺失的诊断,因为有可能将遗传异常传给雄性后代。

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