Ring 17 syndrome: First clinical report without intellectual disability

Luca De Palma, Debora De Carlo, Elisabetta Lenzini, Clementina Boniver, Vincenza Tarantino, Barbara Bacci, Marilena Vecchi

Research output: Contribution to journalArticlepeer-review

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.

Original languageEnglish
Pages (from-to)84-88
Number of pages5
JournalEpileptic Disorders
Volume17
Issue number1
DOIs
Publication statusPublished - Mar 1 2015

Keywords

  • Chromosome analysis
  • Focal epilepsy
  • Ring 17 syndrome
  • Ring 20 syndrome

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

Fingerprint Dive into the research topics of 'Ring 17 syndrome: First clinical report without intellectual disability'. Together they form a unique fingerprint.

Cite this