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

Brain Dev. 2010 Mar;32(3):248-52. doi: 10.1016/j.braindev.2009.01.003. Epub 2009 Feb 11.

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 35Mb 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.

Publication types

  • Case Reports

MeSH terms

  • Body Dysmorphic Disorders / complications*
  • Body Dysmorphic Disorders / genetics
  • Chromosomes, Human, Pair 11 / genetics*
  • Epilepsy* / complications
  • Epilepsy* / drug therapy
  • Epilepsy* / genetics
  • Humans
  • Intellectual Disability / complications*
  • Intellectual Disability / genetics
  • Male
  • Segmental Duplications, Genomic / genetics*
  • Young Adult