Singhal Paresh, Malik Ajay, Naredi Nikita, Pranaya Gurmeet, Agrawal Amit
Department of Pathology, Armed Forces Medical College, Pune, Maharashtra, India.
Department of ARTC, Command Hospital (SC), Pune, Maharashtra, India.
J Hum Reprod Sci. 2019 Jul-Sep;12(3):255-257. doi: 10.4103/jhrs.JHRS_13_19.
Robertsonian translocation is a subtype of balanced translocation involving two acrocentric chromosomes. Individuals who are carrier of this abnormality are at increased risk of infertility or bad obstetric history. This case is reported with the aim to describe a male who presented with nonobstructive azoospermia at a tertiary care center. The individual was phenotypically normal but carrier of a Robertsonian translocation of two acrocentric chromosomes. With this literature, we emphasize that conventional cytogenetic is an essential diagnostic tool for screening genetic factors in infertility.
罗伯逊易位是涉及两条近端着丝粒染色体的平衡易位的一种亚型。携带这种异常的个体不孕或有不良产科病史的风险增加。本文报告该病例的目的是描述一名在三级医疗中心表现为非梗阻性无精子症的男性。该个体表型正常,但为两条近端着丝粒染色体罗伯逊易位的携带者。通过本文献,我们强调传统细胞遗传学是筛查不孕症遗传因素的重要诊断工具。