title: [Cytogenetic study of 140 patients with changes in sexual features].
abstract: 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.
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D012734:Disorders of Sex Development / Q000235:genetics*; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008297:Male; D008599:Menstruation Disturbances / Q000235:genetics; D008875:Middle Aged; D012729:Sex Chromosome Aberrations / Q000235:genetics*; D013091:Spermatogenesis
vernacular_title: Studio citogenetico su 140 pazienti con alterazioni della sfera sessuale.