title: Ring 17 syndrome: first clinical report without intellectual disability.
abstract: Ring chromosomes are rare abnormalities caused by the fusion of the telomeric regions. Three-ring chromosome syndromes (Cr 20, Cr 17 and Cr 14) cause epilepsy with variable phenotypes. In ring 17 patients with mild phenotype, some authors have shown an epilepsy syndrome similar to that of ring 20. We report the first case of a girl with ring chromosome 17 and a normal neurological and general cognitive profile. She had had, from 9 years old, focal pharmacoresistant epilepsy associated with episodes of non-convulsive status epilepticus with mainly autonomic features. Cytogenetic analysis revealed an abnormal karyotype characterised by the presence of de novo ring chromosome 17 in 19% of metaphases. The array CGH (100 KB) did not show any genetic deletion. The clinical and epilepsy phenotype was, to a certain degree, similar to that of ring 20 syndrome.
authors: Epilepsy Unit, Department of Child and Mother Health, University of Padua, Padua, Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome.
authors: Luca
authors: L
authors: de Palma
authors: Epilepsy Unit, Department of Child and Mother Health, University of Padua, Padua.
authors: Debora
authors: D
authors: De Carlo
authors: Molecular Cytogenetics Lab, Department of Child and Mother Health, University of Padua, Padua.
authors: Elisabetta
authors: E
authors: Lenzini
authors: Epilepsy Unit, Department of Child and Mother Health, University of Padua, Padua.
authors: Clementina
authors: C
authors: Boniver
authors: Epilepsy Unit, Department of Child and Mother Health, University of Padua, Padua, Department of General Psychology, University of Padua, Padua, Italy.
authors: Vincenza
authors: V
authors: Tarantino
authors: Epilepsy Unit, Department of Child and Mother Health, University of Padua, Padua.
authors: Barbara
authors: B
authors: Bacci
authors: Epilepsy Unit, Department of Child and Mother Health, University of Padua, Padua.
authors: Marilena
authors: M
authors: Vecchi
mesh_terms: D000293:Adolescent; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D003071:Cognition; D004351:Drug Resistance; D004569:Electroencephalography; D004827:Epilepsy / Q000209:etiology / Q000523:psychology; D056344:Executive Function; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000523:psychology*; D009483:Neuropsychological Tests; D012303:Ring Chromosomes; D013577:Syndrome
keywords: chromosome analysis; focal epilepsy; ring 17 syndrome; ring 20 syndrome