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 journalArticle

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

Fingerprint

Intellectual Disability
Epilepsy
Phenotype
Ring Chromosomes
Abnormal Karyotype
Partial Epilepsy
Status Epilepticus
Cytogenetic Analysis
Metaphase
Chromosome Aberrations
Ring Chromosome 20 Syndrome
Chromosome 17 ring

Keywords

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

ASJC Scopus subject areas

  • Clinical Neurology
  • Neurology
  • Medicine(all)

Cite this

De Palma, L., De Carlo, D., Lenzini, E., Boniver, C., Tarantino, V., Bacci, B., & Vecchi, M. (2015). Ring 17 syndrome: First clinical report without intellectual disability. Epileptic Disorders, 17(1), 84-88. https://doi.org/10.1684/epd.2015.0726

Ring 17 syndrome : First clinical report without intellectual disability. / De Palma, Luca; De Carlo, Debora; Lenzini, Elisabetta; Boniver, Clementina; Tarantino, Vincenza; Bacci, Barbara; Vecchi, Marilena.

In: Epileptic Disorders, Vol. 17, No. 1, 01.03.2015, p. 84-88.

Research output: Contribution to journalArticle

De Palma, L, De Carlo, D, Lenzini, E, Boniver, C, Tarantino, V, Bacci, B & Vecchi, M 2015, 'Ring 17 syndrome: First clinical report without intellectual disability', Epileptic Disorders, vol. 17, no. 1, pp. 84-88. https://doi.org/10.1684/epd.2015.0726
De Palma L, De Carlo D, Lenzini E, Boniver C, Tarantino V, Bacci B et al. Ring 17 syndrome: First clinical report without intellectual disability. Epileptic Disorders. 2015 Mar 1;17(1):84-88. https://doi.org/10.1684/epd.2015.0726
De Palma, Luca ; De Carlo, Debora ; Lenzini, Elisabetta ; Boniver, Clementina ; Tarantino, Vincenza ; Bacci, Barbara ; Vecchi, Marilena. / Ring 17 syndrome : First clinical report without intellectual disability. In: Epileptic Disorders. 2015 ; Vol. 17, No. 1. pp. 84-88.
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