[Klinefelter's syndrome with 48,XXYY (author's transl)].
This paper describes a case of Klinefelter's syndrome with 48,XXYY. Patient had mental retardation and dysmorfic face. Although mental retardation may be recognized early in life, it is difficult to establish a clinical diagnosis of Klinefelter's syndrome before puberty when small testes, gynecomastia and other phisical stigmata may become apparent.
D002648:Child; D003878:Dermatoglyphics; D006801:Humans; D007621:Karyotyping; D007713:Klinefelter Syndrome / Q000175:diagnosis*; D008297:Male
Síndrome de Klinefelter con 48,XXYY.