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.
|Digital Object Identifier (DOI):||http://dx.doi.org/10.1016/j.braindev.2009.01.003|
|Codice identificativo ISI:||WOS:000275086500012|
|Codice identificativo Scopus:||2-s2.0-77649188169|
|Titolo:||A de novo 11p12-p15.4 duplication in a patient with pharmacoresistant epilepsy, mental retardation, and dysmorphisms|
|Appare nelle tipologie:||1.1 Articolo in rivista|