College of Medicine, Alfaisal University, Riyadh, Saudi Arabia.
Department of Urology, Division of Andrology, King Faisal Specialist Hospital and Research Center, Riyadh, Saudi Arabia.
Am J Case Rep. 2020 May 15;21:e921616. doi: 10.12659/AJCR.921616.
BACKGROUND Translocations are the most common type of chromosomal structural anomalies. In balanced translocations, there is not an obvious loss of genetic material; they are usually phenotypically normal adults who present with reproductive issues. Male carriers of Robertsonian (ROB) translocation can have infertility and are shown to have abnormal semen analysis. Some patients have positive sperms in the ejaculate. Therefore, fertility management can be offered to couples to achieve pregnancy and delivery of healthy neonates. CASE REPORT We present 2 cases of 34- and 35-year-old males who presented to our tertiary care hospital because of primary infertility. Semen analysis showed nonobstructive cryptozoospermia and azoospermia, respectively. Genetic tests revealed ROB translocation (13;14). Fertility treatment was offered to both couples. CONCLUSIONS Males with ROB translocation can have positive sperms in the ejaculate. A multidisciplinary approach should be offered to the couples to help them achieve clinical pregnancy, reduce the risk of miscarriage, and increase the rates of delivery of healthy neonates.
易位是最常见的染色体结构异常类型。在平衡易位中，没有明显的遗传物质丢失；它们通常是表型正常的成年人，表现为生殖问题。罗伯逊易位（ROB）的男性携带者可能不育，并表现出精液分析异常。一些患者的精液中存在正常精子。因此，可以向夫妇提供生育管理，以实现妊娠和分娩健康新生儿。
我们介绍了 2 例 34 岁和 35 岁的男性，他们因原发性不育到我们的三级保健医院就诊。精液分析分别显示为非梗阻性隐睾症和无精子症。遗传检测显示 ROB 易位（13；14）。为这对夫妇提供了生育治疗。
携带 ROB 易位的男性精液中可能存在正常精子。应向夫妇提供多学科方法，以帮助他们实现临床妊娠，降低流产风险，并提高健康新生儿的分娩率。
