title: Definition of the neurological phenotype associated with dup (X)(p11.22-p11.23).
abstract: 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.
authors.affiliation: Department of Neurological Sciences, University of Bologna, Bologna.
authors.forename: Marcella
authors.initials: M
authors.lastname: Broli
authors.forename: Francesca
authors.initials: F
authors.lastname: Bisulli
authors.forename: Massimo
authors.initials: M
authors.lastname: Mastrangelo
authors.forename: Elena
authors.initials: E
authors.lastname: Fontana
authors.forename: Isabella
authors.initials: I
authors.lastname: Fiocchi
authors.forename: Claudio
authors.initials: C
authors.lastname: Zucca
authors.forename: Maria Clara
authors.initials: MC
authors.lastname: Bonaglia
authors.forename: Serafino
authors.initials: S
authors.lastname: Buono
authors.forename: Sebastiano Antonino
authors.initials: SA
authors.lastname: Musumeci
authors.forename: Corrado
authors.initials: C
authors.lastname: Romano
authors.forename: Santina
authors.initials: S
authors.lastname: Reitano
authors.forename: Maria
authors.initials: M
authors.lastname: Savio
authors.forename: Girolamo Aurelio
authors.initials: GA
authors.lastname: Vitello
authors.forename: Bruno
authors.initials: B
authors.lastname: Bernardi
authors.forename: Daniela
authors.initials: D
authors.lastname: Cevolani
authors.forename: Raffaele
authors.initials: R
authors.lastname: Agati
authors.forename: Roberto
authors.initials: R
authors.lastname: Poda
authors.forename: Roberto
authors.initials: R
authors.lastname: Gallassi
authors.forename: Roberto
authors.initials: R
authors.lastname: Giorda
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
authors.forename: Bernardo Dalla
authors.initials: BD
authors.lastname: Bernardina
authors.forename: Marco
authors.initials: M
authors.lastname: Seri
authors.forename: Paolo
authors.initials: P
authors.lastname: Tinuper
mesh_terms: D000293:Adolescent; D000328:Adult; D001921:Brain / Q000473:pathology; D002648:Child; D041321:Chromosomes, Human, X / Q000235:genetics*; D004568:Electrodiagnosis; D004569:Electroencephalography; D005260:Female; D018628:Gene Dosage; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics; D008279:Magnetic Resonance Imaging; D008297:Male; D009422:Nervous System Diseases / Q000235:genetics* / Q000473:pathology / Q000523:psychology; D009431:Neural Conduction / Q000502:physiology; D009483:Neuropsychological Tests; D010641:Phenotype