Rocca MS, Pecile V, Cleva L, Speltra E, Selice R, Di Mambro A, Foresta C, Ferlin A. The Klinefelter syndrome is associated with high recurrence of copy number variations on the X chromosome with a potential role in the clinical phenotype. Andrology 2016;4(2):328-34.

Perrone MD, Rocca MS, Bruno I, Faletra F, Pecile V, Gasparini P. De novo 911 Kb interstitial deletion on chromosome 1q43 in a boy with mental retardation and short stature. Eur J Med Genet 2012;55(2):117-9.