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

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

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  • 1Epilepsy Center, Neurology Department, Federico II University, Via Pansini 5, 80131 Naples, Italy. antoniettacoppola@email.it <antoniettacoppola@email.it>


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.

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