title: Cortical dysplasia of the left temporal lobe might explain severe expressive-language delay in patients with duplication of the Williams-Beuren locus.
abstract: We report on a new duplication case of 7q11.23, reciprocal of the Williams-Beuren (WB) deletion. The patient, a 13-year-old girl, was ascertained within an array-CGH screening of patients with epilepsy and neuronal migration defects. Similarly to the first reported patient, she showed serious difficulties in expressive language in the absence of severe mental retardation and marked dysmorphic features. Magnetic resonance imaging (MRI) of the brain revealed an abnormal development of the cerebral cortex in the left temporal lobe, which showed a simplified gyral pattern, and increased cortical thickness. This finding, which might explain poor language development, suggests that the WB critical region might harbour a dosage-sensitive gene controlling the molecular machinery of neuronal migration, with regional specificity and lateralization. It will be important to confirm our findings in newly diagnosed patients with dup(7)(q11.23). We expect to detect many more patients with the same duplication using widespread clinical implementation of high-resolution genome analysis.
authors.affiliation: Servizio Neuropsichiatria Infantile, Policlinico GB Rossi, Studi di Verona, Verona, Italy.
authors.forename: Claudia
authors.initials: C
authors.lastname: Torniero
authors.forename: Bernardo
authors.initials: B
authors.lastname: dalla Bernardina
authors.forename: Francesca
authors.initials: F
authors.lastname: Novara
authors.forename: Annalisa
authors.initials: A
authors.lastname: Vetro
authors.forename: Ivana
authors.initials: I
authors.lastname: Ricca
authors.forename: Francesca
authors.initials: F
authors.lastname: Darra
authors.forename: Tiziano
authors.initials: T
authors.lastname: Pramparo
authors.forename: Renzo
authors.initials: R
authors.lastname: Guerrini
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
mesh_terms: D002897:Chromosomes, Human, Pair 7; D005260:Female; D020440:Gene Duplication; D006801:Humans; D007621:Karyotyping; D007805:Language Development Disorders / Q000235:genetics* / Q000473:pathology; D008279:Magnetic Resonance Imaging; D013702:Temporal Lobe / Q000002:abnormalities*; D018980:Williams Syndrome / Q000235:genetics*