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.

本研究报道一例罕见不孕症病例，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。在获取患者书面知情同意后，我们为该男性不孕症患者完成了全套遗传学检测。