title: Two siblings with similar phenotypes: one of them had ring 20 chromosome.
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.
authors.affiliation: Department of Neurology, Hacettepe University, Ankara, Turkey. irseltezer@yahoo.com.tr
authors.forename: F Irsel
authors.initials: FI
authors.lastname: Tezer
authors.forename: Dilek
authors.initials: D
authors.lastname: Aktas
authors.forename: Mehmet
authors.initials: M
authors.lastname: Alikasifoglu
authors.forename: Serap
authors.initials: S
authors.lastname: Saygi
mesh_terms: D000293:Adolescent; D002890:Chromosomes, Human, Pair 20; D004569:Electroencephalography; D017034:Epilepsy, Frontal Lobe / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D004829:Epilepsy, Generalized / Q000175:diagnosis / Q000235:genetics* / Q000503:physiopathology; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000175:diagnosis / Q000235:genetics / Q000503:physiopathology; D008297:Male; D010641:Phenotype; D012303:Ring Chromosomes; D035781:Siblings