[Cytogenetic study of 140 patients with changes in sexual features]

Cytogenetic studies on a group of 140 patients with alterations of sex features (sex uncertainty, gynecomasty, menstrual abnormality and so on) confirmed a high incidence of chromosome abnormalities (25%). Most frequent abnormal kariotypes were X0 and XXY. Furthermore, cytogenetic investigations showed a higher rate of heterochromatic polymorphism in patients (33.7%) than in controls (13.4%), the most frequent being 1qh, 9qh and 16qh. A possible role of heterochromatic polymorphism in determining sex chromosome abnormalities or, directly, sex diseases, and in possibly enhancing neoplastic risk, is suggested.