title: [49 XXXXY syndrome. Description of 2 clinical cases].
abstract: 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.
mesh_terms: D006801:Humans; D007231:Infant, Newborn; D007621:Karyotyping; D008297:Male; D010641:Phenotype; D012729:Sex Chromosome Aberrations / Q000235:genetics; D013577:Syndrome; D014960:X Chromosome
vernacular_title: La sindrome 49 XXXXY. Descrizione di due casi clinici.