A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms

Antonietta Coppola, Pasquale Striano, Stefania Gimelli, Clotilde Ciampa, Lia Santulli, Ferdinando Caranci, Orsetta Zuffardi, Giorgio Gimelli, Salvatore Striano, Federico Zara

Research output: Contribution to journalArticlepeer-review

Abstract

We report a 22-year-old male patient with pharmacoresistant epilepsy, mental retardation and dysmorphisms. Standard cytogenetic analysis revealed a de novo interstitial duplication of the short arm of chromosome 11 (11p). High density array-CGH analysis showed that the rearrangement spans about 35. Mb on chromosome 11p12-p15.4. Duplications of 11p are rare and usually involve the distal part of the chromosome arm (11p15), being not associated with epilepsy, whereas our patient showed a unique epileptic phenotype associated with mental retardation and dysmorphic features. The role of some rearranged genes in epilepsy pathogenesis in this patient is also discussed.

Original languageEnglish
Pages (from-to)248-252
Number of pages5
JournalBrain and Development
Volume32
Issue number3
DOIs
Publication statusPublished - Mar 2010

Keywords

  • Array-CGH
  • Chromosome abnormalities
  • Duplication
  • Epilepsy
  • Mental retardation

ASJC Scopus subject areas

  • Clinical Neurology
  • Pediatrics, Perinatology, and Child Health
  • Developmental Neuroscience

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