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Focal cortical dysplasia and pericentric inversion of chromosome 9: a case report

Summary:

A child affected by multiple dysmorphisms and behavioral disorders with pericentric inversion on chromosome 9 is reported. In this patient, a focal cortical dysplasia in right temporal lobe was observed on magnetic resonance imaging of the brain. To our knowledge, this report is the first description of focal cortical dysplasia in a patient of an occidental country with pericentric inversion of chromosome. 9. The relationship between alterations localised on chromosome 9 and cerebral cortical organisation disorders is discussed.

Giancarlo DI GENNARO , Addolorata MASCIA , Liliana G. GRAMMALDO , Fabio SEBASTIANO, Pier Paolo QUARATO // Epilepsy Surgery Unit , Department of Neurosciences, IRCCS NEUROMED, Pozzilli , IS, Italy