[49 XXXXY syndrome. Description of 2 clinical cases]

Two children with the 49, XXXXY syndrome were described. The main symptoms were the cranio-facial abnormalities (for exp. upward slant to palpebral fissures), hypogonadism with a small penis, skeletal abnormalities (especially radioulnar synostosis) and severe mental deficiency. The diagnosis, suggested by the clinical picture, was confirmed by the karyotypic analysis.