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, vol.44, no.1, pp.58-61, 2013 (Peer-Reviewed Journal) identifier identifier identifier

  • Publication Type: Article / Article
  • Volume: 44 Issue: 1
  • Publication Date: 2013
  • Doi Number: 10.1177/1550059412451700
  • Journal Name: CLINICAL EEG AND NEUROSCIENCE
  • Journal Indexes: Science Citation Index Expanded, Scopus
  • Page Numbers: pp.58-61
  • Keywords: ring chromosome, ring 20 chromosome, epilepsy, seizure, nonconvulsive seizures, electroencephalography (EEG), phenotype, mental retardation, MOSAICISM, DELETIONS, EPILEPSY, DISORDER, PATTERN

Abstract

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.