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

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

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,XXY...

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Bibliographic Details
Published in:Gülhane Tip Dergisi Vol. 49; no. 4; p. 253
Main Authors: Afyoncu, A Oğuz, Vurucu, Sebahattin, Taşçılar, M Emre, Ünay, Bülent, Gül, Davut, Akın, Rıdvan
Format: Journal Article
Language:English
Turkish
Published: Ankara Gulhane Medical Journal 01-12-2007
Online Access:Get full text
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Summary: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.
ISSN:1302-0471
2146-8052