John Libbey Eurotext

Ring 17 syndrome: first clinical report without intellectual disability Volume 17, numéro 1, March 2015

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Auteurs
1 Epilepsy Unit, Department of Child and Mother Health, University of Padua, Padua
2 Neurology Unit, Bambino Gesù Children's Hospital, IRCCS, Rome
3 Molecular Cytogenetics Lab, Department of Child and Mother Health, University of Padua, Padua
4 Department of General Psychology, University of Padua, Padua, Italy
* Correspondence: Marilena Vecchi Via Giustiniani 3, 35128, Padova, Italy

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.