[48,XXYY syndrome in a 4-year-old subject].
The authors present a four years old boy with genitalic infantilism, mild mental retardation and karyotype 48, XXYY. This rare gonosomic aneuploidy is exceptionally discovered during childhood because it is diagnosed in most of cases after puberty for its phenotype similar to the Klinefelter's Syndrome.
D002675:Child, Preschool; D003878:Dermatoglyphics; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000235:genetics* / Q000473:pathology; D008297:Male
La sindrome 48,XXYY in un soggetto di 4 anni.