A case of 48,XXYY syndrome diagnosed with vague dysmorphic findings Silik dismorfik bulgularla tani almis olan 48,XXYY sendromu: Bir olgu sunumu

Afyoncu, A.; VURUCU, Sebahattin; Taşçilar, M.; ÜNAY, Bülent; Gül, Davut; Akin, Ridvan

A case of 48,XXYY syndrome diagnosed with vague dysmorphic findings Silik dismorfik bulgularla tani almis olan 48,XXYY sendromu: Bir olgu sunumu

Afyoncu A. O., VURUCU S., Taşçilar M. E., ÜNAY B., Gül D., Akin R.

Gulhane Medical Journal, cilt.49, sa.4, ss.253-255, 2007 (Scopus, TRDizin)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 49 Sayı: 4
Basım Tarihi: 2007
Dergi Adı: Gulhane Medical Journal
Derginin Tarandığı İndeksler: Scopus, TR DİZİN (ULAKBİM)
Sayfa Sayıları: ss.253-255
Anahtar Kelimeler: 48,XXYY, Klinefelter syndrome, Pugilistic facial appearance
Sağlık Bilimleri Üniversitesi Adresli: Evet

Özet

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. © Gülhane Askeri Tip Akademisi 2007.