title: Clinical and molecular delineation of a 16p13.2p13.13 microduplication.
abstract: The 16p13.3p13.1 region has been reported as a "critical" hotspot region for recurrent microdeletions/duplications, which may contribute to epilepsy, learning difficulties and facial dysmorphisms. Cytogenetic and array-CGH analyses were performed because of the clinical characteristics of the patient. The girl showed de novo 16p13.3p13.13 duplication spanning a region of ∼5.3 Mb. She presented brain anomalies, intellectual disability, epilepsy, facial and vertebral dysmorphisms. To our knowledge, this is the first reported case of 16p13.3p13.13 duplication; only three patients with an overlapping deletion in 16p13.2p13.13 were previously described. The duplicated region contains 21 OMIM genes and, six of them (RBFOX1, TMEM114, ABAT, PMM2, GRIN2A and, LITAF) were found to be associated with known diseases. Although no duplication of these genes has been described in the literature, we discuss here if they had some role in determining phenotype of our patient.
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, Genova, Italy. Electronic address: eli.tassano@gmail.com.
authors.forename: E
authors.initials: E
authors.lastname: Tassano
authors.affiliation: Clinica Pediatrica, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: M G
authors.initials: MG
authors.lastname: Alpigiani
authors.affiliation: Clinica Pediatrica, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: A
authors.initials: A
authors.lastname: Calcagno
authors.affiliation: Clinica Pediatrica, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Salvati
authors.affiliation: Clinica Pediatrica, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: L
authors.initials: L
authors.lastname: De Miglio
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: P
authors.initials: P
authors.lastname: Fiorio
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: C
authors.initials: C
authors.lastname: Cuoco
authors.affiliation: Laboratorio di Citogenetica, Istituto Giannina Gaslini, Genova, Italy.
authors.forename: G
authors.initials: G
authors.lastname: Gimelli
mesh_terms: D000015:Abnormalities, Multiple / Q000175:diagnosis / Q000235:genetics; D050882:CREB-Binding Protein / Q000235:genetics; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D058674:Chromosome Duplication; D002884:Chromosomes, Human, Pair 15 / Q000235:genetics; D002885:Chromosomes, Human, Pair 16 / Q000235:genetics; D003103:Coloboma / Q000235:genetics; D055028:Comparative Genomic Hybridization; D019465:Craniofacial Abnormalities / Q000175:diagnosis / Q000235:genetics; D004827:Epilepsy / Q000235:genetics; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008565:Membrane Proteins / Q000235:genetics; D009030:Mosaicism; D009133:Muscular Atrophy / Q000175:diagnosis / Q000235:genetics; D009687:Nuclear Proteins / Q000235:genetics; D017875:Phosphotransferases (Phosphomutases) / Q000235:genetics; D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins / Q000235:genetics; D016194:Receptors, N-Methyl-D-Aspartate / Q000235:genetics; D014157:Transcription Factors / Q000235:genetics; D014314:Trisomy / Q000235:genetics*
chemical_list: D050882:CREB-Binding Protein; D008565:Membrane Proteins; D009687:Nuclear Proteins; D017875:Phosphotransferases (Phosphomutases); D000072260:RNA Splicing Factors; D016601:RNA-Binding Proteins; D016194:Receptors, N-Methyl-D-Aspartate; D014157:Transcription Factors; C118738:LITAF protein, human; C455479:RBFOX1 protein, human; C523698:TMEM114 protein, human; C494363:CREBBP protein, human; C519582:phosphomannomutase 2, human
keywords: 16p13.3p13.13 duplication; Array-CGH