Focal cortical dysplasia and pericentric inversion of chromosome 9

NOROL BIL D 21: 2 , 2004 http://www.med.ege.edu.tr/norolbil/2004/
NBD27904.htm
Case Report
Focal cortical dysplasia and pericentric inversion of chromosome
9: a case report
Giancarlo DI GENNARO , Addolorata MASCIA , Liliana G. GRAMMALDO ,
Fabio SEBASTIANO, Pier Paolo QUARATO
Epilepsy Surgery Unit , Department of Neurosciences, IRCCS NEUROMED, Pozzilli , IS,
Italy
SUMMARY
A child affected by multiple dysmorphisms and behavioral disorders with pericentric
inversion on
chromosome 9 [46 XY inv 9 (p11q11)] 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.
KEY WORDS: Focal cortical dysplasia; chromosome 9; pericentric inversion;
magnetic resonance