A case with 18p deletion and dystonia and review of the literature

Tekeli, Hakan; Kendirli, Mustafa; Şenol, Mehmet; DEMİR, Serkan; Yaşar, Halit; Toğrol, Rıfat; ÖZDAĞ, Mehmet; TUNCA, Yusuf

A case with 18p deletion and dystonia and review of the literature

Tekeli H., Kendirli M. T., Şenol M. G., DEMİR S., Yaşar H., Toğrol R. E., ...Daha Fazla

Neurology Asia, cilt.20, sa.3, ss.287-290, 2015 (SCI-Expanded, Scopus)

Yayın Türü: Makale / Tam Makale
Cilt numarası: 20 Sayı: 3
Basım Tarihi: 2015
Dergi Adı: Neurology Asia
Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
Sayfa Sayıları: ss.287-290
Sağlık Bilimleri Üniversitesi Adresli: Evet

Özet

18p deletion syndrome is a rare disorder which is accompanied with mental retardation, facial abnormalities and short stature. Dystonic findings are rarely seen and only 12 cases have been reported in the literature until now. We report here a 26 year old female complaining of spasms on her trunk and limb muscles. Genetic investigation revealed 18p deletion.