CLINICAL EEG AND NEUROSCIENCE, vol.44, no.1, pp.58-61, 2013 (Peer-Reviewed Journal)
Article / Article
CLINICAL EEG AND NEUROSCIENCE
Science Citation Index Expanded, Scopus
ring chromosome, ring 20 chromosome, epilepsy, seizure, nonconvulsive seizures, electroencephalography (EEG), phenotype, mental retardation, MOSAICISM, DELETIONS, EPILEPSY, DISORDER, PATTERN
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.