title: Dysmorphic features, simplified gyral pattern and 7q11.23 duplication reciprocal to the Williams-Beuren deletion.
abstract: We report a patient with mild pachygyria, ascertained during a screening of subjects with abnormal neuronal migration and/or epilepsy, having a 7q11.23 duplication reciprocal to the Williams-Beuren critical region (WBCR) deletion. He exhibited speech delay and mental retardation together to type II trigonocephaly and other abnormalities. The proband's mother carried the same imbalance, though her phenotype was milder and no abnormal conformation of the cranium was reported. She had suffered a few seizures in infancy, as already described in other duplicated subjects. This genomic imbalance, now described in 17 subjects, including one parent for each of the four probands, is associated with a variable phenotype. Speech impairment is present in most cases; no distinctive facial gestalt is recognizable; seizures have been reported in four subjects and brain magnetic resonance, performed in eight cases, resulted abnormal in six, while detected abnormal neuronal migration in two. Although the clinical description of additional cases is needed to delineate a definite phenotypic core for WBCR duplications, trigonocephaly, also reported in another dup(7)(q11.23) patient, is possibly a trait that, together with speech impairment, may call for clinically oriented specific screening. Abnormal development of the cerebral cortex, reported also in the Williams-Beuren deletion, suggests that at least one gene is present in the critical region whose deletion/duplication impairs neuronal migration.
authors.affiliation: Servizio Neuropsichiatria Infantile, Policlinico GB Rossi, Università 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: Roberto
authors.initials: R
authors.lastname: Cerini
authors.forename: Clara
authors.initials: C
authors.lastname: Bonaglia
authors.forename: Tiziano
authors.initials: T
authors.lastname: Pramparo
authors.forename: Roberto
authors.initials: R
authors.lastname: Ciccone
authors.forename: Renzo
authors.initials: R
authors.lastname: Guerrini
authors.forename: Orsetta
authors.initials: O
authors.lastname: Zuffardi
mesh_terms: D000293:Adolescent; D000328:Adult; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002897:Chromosomes, Human, Pair 7 / Q000235:genetics*; D005147:Facial Bones / Q000002:abnormalities*; D005260:Female; D020440:Gene Duplication; D006801:Humans; D017404:In Situ Hybridization, Fluorescence; D008607:Intellectual Disability / Q000235:genetics* / Q000473:pathology; D007621:Karyotyping; D007805:Language Development Disorders / Q000235:genetics* / Q000473:pathology; D008297:Male; D009693:Nucleic Acid Hybridization; D020411:Oligonucleotide Array Sequence Analysis; D010641:Phenotype; D018980:Williams Syndrome / Q000175:diagnosis / Q000235:genetics*