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 language | English |
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Pages (from-to) | 248-252 |
Number of pages | 5 |
Journal | Brain and Development |
Volume | 32 |
Issue number | 3 |
DOIs | |
Publication status | Published - Mar 2010 |
Keywords
- Array-CGH
- Chromosome abnormalities
- Duplication
- Epilepsy
- Mental retardation
ASJC Scopus subject areas
- Clinical Neurology
- Pediatrics, Perinatology, and Child Health
- Developmental Neuroscience