Two Siblings With Similar Phenotypes: One of Them Had Ring 20 Chromosome


Tezer F. I. , Aktas D., ALİKAŞİFOĞLU M. , SAYGI S.

CLINICAL EEG AND NEUROSCIENCE, cilt.44, ss.58-61, 2013 (SCI İndekslerine Giren Dergi) identifier identifier identifier

  • Cilt numarası: 44 Konu: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1177/1550059412451700
  • Dergi Adı: CLINICAL EEG AND NEUROSCIENCE
  • Sayfa Sayıları: ss.58-61

Özet

We present the electroclinical features and cytogenetic findings of 2 siblings with the ring 20 chromosome (r(20)) phenotype, one of which had r(20) mosaicism. A history of epilepsy or learning problems should be determined in family members, although these relatives had no ring formation in chromosome 20. Whether the clinical features result from possible deletions or ring formation is discussed.