Variable Penetrance of the 15q11.2 BP1-BP2 Microduplication in a Family with Cognitive and Language Impairment.

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dc.contributor.authorBenítez-Burraco, Antonio
dc.contributor.authorBarcos-Martínez, Montserrat
dc.contributor.authorEspejo-Portero, Isabel
dc.contributor.authorJiménez-Romero, Salud
dc.date.accessioned2025-01-07T12:54:58Z
dc.date.available2025-01-07T12:54:58Z
dc.date.issued2017-04-14
dc.description.abstractThe 15q11.2 BP1-BP2 region is found duplicated or deleted in people with cognitive, language, and behavioral impairment. We report on a family (a father and 3 male twin siblings) that presents with a duplication of the 15q11.2 BP1-BP2 region and a variable phenotype: the father and the fraternal twin are normal carriers, whereas the monozygotic twins exhibit severe language and cognitive delay as well as behavioral disturbances. The genes located within the duplicated region are involved in brain development and function, and some of them are related to language processing. The probands' phenotype may result from changes in the expression level of some of these genes important for cognitive development.
dc.identifier.doi10.1159/000468192
dc.identifier.issn1661-8769
dc.identifier.pmcPMC5448451
dc.identifier.pmid28588435
dc.identifier.pubmedURLhttps://pmc.ncbi.nlm.nih.gov/articles/PMC5448451/pdf
dc.identifier.unpaywallURLhttps://www.karger.com/Article/Pdf/468192
dc.identifier.urihttps://hdl.handle.net/10668/25047
dc.issue.number3
dc.journal.titleMolecular syndromology
dc.journal.titleabbreviationMol Syndromol
dc.language.isoen
dc.organizationSAS - Hospital Universitario de Jerez de la Frontera
dc.page.number139-147
dc.pubmedtypeJournal Article
dc.rights.accessRightsopen access
dc.subjectCognitive delay
dc.subjectCopy number variations
dc.subjectLanguage impairment
dc.subjectMicroduplication 15q11.2 BP1–BP2
dc.subjectVariable penetrance
dc.titleVariable Penetrance of the 15q11.2 BP1-BP2 Microduplication in a Family with Cognitive and Language Impairment.
dc.typeresearch article
dc.type.hasVersionVoR
dc.volume.number8

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