Klinefelter Syndrome XY/XXY Mosaic: Causes, Symptoms, and Treatment
1. Introduction Klinefelter syndrome typically presents with a uniform 47,XXY karyotype across all cells. However, a specific and clinically significant subset of patients present with XY/XXY mosaicism. In this condition, the individual possesses a mixture of two distinct cell lines: some cells contain the normal 46,XY chromosomal configuration, while others carry the abnormal 47,XXY configuration. … Read more