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

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

Gulhane Med J 2007;49(4):253-255
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Abstract

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