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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Published in | Gülhane tıp dergisi Vol. 49; no. 4; p. 253 |
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Main Authors | , , , , , |
Format | Journal Article |
Language | English Turkish |
Published |
Ankara
Gulhane Medical Journal
01.12.2007
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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. |
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ISSN: | 1302-0471 2146-8052 |