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  • Title: A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms.
    Author: Coppola A, Striano P, Gimelli S, Ciampa C, Santulli L, Caranci F, Zuffardi O, Gimelli G, Striano S, Zara F.
    Journal: Brain Dev; 2010 Mar; 32(3):248-52. PubMed ID: 19216040.
    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.
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