47, XYY mosaic karyotype and congenital absence of bilateral vas deferens Case report

We report a rare case of infertility presenting with a 47, XYY mosaicism and congenital bilateral absence of vas deferens. With our patient's informed written consent, we performed a complete set of genetic tests for male infertility.本研究报道1例罕见不育症病例，该患者同时存在47,XYY嵌合型染色体异常与先天性双侧输精管缺如。在获得患者书面知情同意后，我们为该患者开展了全套针对男性不育的遗传学检测。