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, sa.1, ss.58-61, 2013 (SCI-Expanded) identifier identifier identifier

  • Yayın Türü: Makale / Tam Makale
  • Cilt numarası: 44 Sayı: 1
  • Basım Tarihi: 2013
  • Doi Numarası: 10.1177/1550059412451700
  • Dergi Adı: CLINICAL EEG AND NEUROSCIENCE
  • Derginin Tarandığı İndeksler: Science Citation Index Expanded (SCI-EXPANDED), Scopus
  • Sayfa Sayıları: ss.58-61
  • Anahtar Kelimeler: ring chromosome, ring 20 chromosome, epilepsy, seizure, nonconvulsive seizures, electroencephalography (EEG), phenotype, mental retardation, MOSAICISM, DELETIONS, EPILEPSY, DISORDER, PATTERN
  • Hacettepe Üniversitesi Adresli: Evet

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.