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Silik dismorfik bulgularla tanı almış olan 48,XXYY sendromu: bir olgu sunumu

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

Journal Name:

  • Gülhane Tıp Dergisi

Publication Year:

  • 2007

Key Words:

Keywords (Original Language):

Author Name
Abstract (2. Language): 
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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Abstract (Original Language): 
Önceleri Klinefelter sendromunun sitogenetik bir varyantı olarak düşünülen 48,XXYY anöploidisi, son zamanlarda ayrı bir klinik sendrom olarak tanımlanmaktadır. Davranış bozuklukları, mental gerilik ve "pugilistic" yüz görünümü karakteristik bulgularını oluşturmaktadır. Burada Herpes ensefaliti ve dirençli epilepsi tanılarıyla izlenmekteyken dismorfik bulgularla 48,XXYY sendromu tanısı konulan bir olgu sunulmaktadır.
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  • 4
253-255
  • Turkish

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