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dc.creatorBenítez Burraco, Antonioes
dc.creatorBarcos Martínez, Montserrates
dc.creatorEspejo Portero, Isabeles
dc.creatorFernández Urquiza, Maitees
dc.creatorTorres Ruiz, Raúles
dc.creatorRodríguez Perales, Sandraes
dc.creatorJiménez Romero, María Saludes
dc.date.accessioned2021-04-27T06:47:14Z
dc.date.available2021-04-27T06:47:14Z
dc.date.issued2018
dc.identifier.citationBenítez Burraco, A., Barcos Martínez, M., Espejo Portero, I., Fernández Urquiza, M., Torres Ruiz, R., Rodríguez Perales, S. y Jiménez Romero, M.S. (2018). Narrowing the genetic causes of language dysfunction in the 1q21.1 microduplication syndrome. Frontiers in Pediatrics, 6, 1-15.
dc.identifier.issn2296-2360es
dc.identifier.urihttps://hdl.handle.net/11441/107879
dc.description.abstractThe chromosome 1q21.1 duplication syndrome (OMIM# 612475) is characterized by head anomalies, mild facial dysmorphisms, and cognitive problems, including autistic features, mental retardation, developmental delay, and learning disabilities. Speech and language development are sometimes impaired, but no detailed characterization of language problems in this condition has been provided to date. We report in detail on the cognitive and language phenotype of a child who presents with a duplication in 1q21.1 (arr[hg19] 1q21.1q21.2(145,764,455-147,824,207) × 3), and who exhibits cognitive delay and behavioral disturbances. Language is significantly perturbed, being the expressive domain the most impaired area (with significant dysphemic features in absence of pure motor speech deficits), although language comprehension and use (pragmatics) are also affected. Among the genes found duplicated in the child, CDH1L is upregulated in the blood of the proband. ROBO1, a candidate for dyslexia, is also highly upregulated, whereas, TLE3, a target of FOXP2, is significantly downregulated. These changes might explain language, and particularly speech dysfunction in the proband.es
dc.formatapplication/pdfes
dc.format.extent15 p.es
dc.language.isoenges
dc.relation.ispartofFrontiers in Pediatrics, 6, 1-15.
dc.subjectchromosome 1q21.1 duplication syndromees
dc.subjectcognitive delayes
dc.subjectlanguage deficitses
dc.subjectspeech problemses
dc.subjectCDH1Les
dc.subjectROBO1es
dc.titleNarrowing the genetic causes of language dysfunction in the 1q21.1 microduplication syndromees
dc.typeinfo:eu-repo/semantics/articlees
dcterms.identifierhttps://ror.org/03yxnpp24
dc.type.versioninfo:eu-repo/semantics/publishedVersiones
dc.rights.accessRightsinfo:eu-repo/semantics/openAccesses
dc.relation.publisherversionhttps://doi.org/10.3389/fped.2018.00163es
dc.identifier.doi10.3389/fped.2018.00163es
dc.journaltitleFrontiers in Pediatricses
dc.publication.issue6es
dc.publication.initialPage1es
dc.publication.endPage15es
dc.identifier.sisius21762335es

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