Case Report

A case of 48,XXYY syndrome diagnosed with vague dysmorphic findings

  • A. Oğuz Afyoncu
  • Sebahattin Vurucu
  • M. Emre Taşçılar
  • Bülent Ünay
  • Davut Gül
  • Rıdvan Akın

Received Date: 12.12.2006 Accepted Date: 26.02.2007 Gulhane Med J 2007;49(4):253-255

48,XXYY aneuploidy considered previously to be a cytogenetic variant of Klinefelter's syndrome is currently being defined as a distinct clinical syndrome. Behavioral problems, mental retardation and pugilistic facial appearance form the characteristic findings. We herein report a case of 48,XXYY syndrome diagnosed with dysmorphic findings while being followed with the diagnoses of Herpes encephalitis and intractable epilepsy.

Keywords: 48,XXYY, Klinefelter syndrome, pugilistic facial appearance