John Libbey Eurotext

Epileptic Disorders

The Educational Journal of the International League Against Epilepsy

Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23) Volume 13, numéro 3, Septembre 2011

Department of Neurological Sciences, University of Bologna, Bologna, V. Buzzi Children's Hospital, Milan, Neuropsychiatry, G.B. Rossi Hospital, University of Verona, Verona, Clinical Neurophysiology, E. Medea Scientific Institute, Bosisio Parini, Lecco, Cytogenetics, E. Medea Scientific Institute, Bosisio Parini, Lecco, Department for Mental Retardation, I.R.C.C.S. Oasi Maria Santissima Association, Troina, Enna, Neuroradiology, Imaging Department, Pediatric Hospital Bambino Gesù, Rome, Neuroradiology Unit, Bellaria Hospital, Bologna, Molecular Biology, E. Medea Scientific Institute, Bosisio Parini, Lecco, Medical Genetics I.R.C.C.S. C. Mondino, Pavia, Medical Genetics, Department of Gynecological, Obstetric and Pediatric Sciences, Sant’Orsola Malpigli Hospital, University of Bologna, Bologna, Italy
  • Mots-clés : Xp11.22-11.23, mental retardation, speech impairment
  • DOI : 10.1684/epd.2011.0462
  • Page(s) : 240-51
  • Année de parution : 2011

The aim of this study was to describe in detail the neurological features of nine patients carrying the recently reported microduplication at Xp11.22-11.23. Clinical and neurological examination, brain magnetic resonance imaging (except for two patients), electroencephalography and a neuropsychological assessment specific for language disturbances were performed in nine patients with microduplication at Xp11.22-11.23, disclosed by comparative genomic hybridisation array. Six patients were familial cases belonging to three unrelated pedigrees and three were sporadic cases. The patients had the following characteristics: mild dysmorphic facial features (except for two patients), mental retardation with moderate to severe global language deterioration, electroencephalographic epileptiform discharges during wakefulness and especially during sleep or electrical status epilepticus during slow sleep in younger cases, and negative brain magnetic resonance imaging. The main clinical features of this new microduplication syndrome were mild facial dysmorphisms, from increased electroencephalogram abnormalities during sleep to electrical status epilepticus during slow sleep, and mental retardation mainly involving language function in the absence of detectable brain lesions. In the absence of detectable brain lesions, speech delay may be associated with electrical status epilepticus during slow sleep or, alternatively, related to abnormal brain expression of a dosage-sensitive gene contained within the duplication region.