The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype

This study described for the first time the genetic properties of the X chromosome in KS and suggests that X‐linked CNVs (especially duplications) might contribute to the clinical phenotype.

Source: Andrology - January 20, 2016 Category: Urology & Nephrology Authors: M. S. Rocca, V. Pecile, L. Cleva, E. Speltra, R. Selice, A. Di Mambro, C. Foresta, A. Ferlin Tags: Original Article Source Type: research