Subtelomeric rearrangements and copy number variations in people with intellectual disabilities

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dc.contributor.authorChristofolini, D. M. [UNIFESP]
dc.contributor.authorPaula Ramos, M. A. de [UNIFESP]
dc.contributor.authorKulikowski, L. D. [UNIFESP]
dc.contributor.authorSilva Bellucco, F. T. da [UNIFESP]
dc.contributor.authorBelangero, S. I. N. [UNIFESP]
dc.contributor.authorBrunoni, D. [UNIFESP]
dc.contributor.authorMelaragno, M. I. [UNIFESP]
dc.contributor.institutionUniversidade Federal de São Paulo (UNIFESP)
dc.contributor.institutionDept Gynecol & Obstet
dc.date.accessioned2016-01-24T14:05:33Z
dc.date.available2016-01-24T14:05:33Z
dc.date.issued2010-10-01
dc.description.abstractBackgroundThe most prevalent type of structural variation in the human genome is represented by copy number variations that can affect transcription levels, sequence, structure and function of genes.MethodIn the present study, we used the multiplex ligation-dependent probe amplification (MLPA) technique and quantitative PCR for the detection of copy number variation in 132 intellectually disabled male patients with normal karyotypes and negative fragile-X-testing.ResultsTen of these patients (7.6%) showed copy number variation in the subtelomeric regions, including deletions and duplications.DiscussionDuplications of the SECTM1 gene, located at 17q25.3, and of the FLJ22115 gene, located at 20p13, could be associated with phenotype alterations. This study highlights the relevance in the aetiology of intellectual disability of subtelomeric rearrangements that can be screened by MLPA and other molecular techniques.en
dc.description.affiliationUniversidade Federal de São Paulo, Morphol & Genet Dept, BR-04023900 São Paulo, Brazil
dc.description.affiliationDept Gynecol & Obstet, Fac Med ABC, Santo Andre, SP, Brazil
dc.description.affiliationUniversidade Federal de São Paulo, Dept Pathol, Sch Med, LIM 03, BR-04023900 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Morphol & Genet Dept, BR-04023900 São Paulo, Brazil
dc.description.affiliationUnifespUniversidade Federal de São Paulo, Dept Pathol, Sch Med, LIM 03, BR-04023900 São Paulo, Brazil
dc.description.sourceWeb of Science
dc.format.extent938-942
dc.identifierhttp://dx.doi.org/10.1111/j.1365-2788.2010.01325.x
dc.identifier.citationJournal of Intellectual Disability Research. Malden: Wiley-Blackwell Publishing, Inc, v. 54, p. 938-942, 2010.
dc.identifier.doi10.1111/j.1365-2788.2010.01325.x
dc.identifier.issn0964-2633
dc.identifier.urihttp://repositorio.unifesp.br/handle/11600/32973
dc.identifier.wosWOS:000281827800044
dc.language.isoeng
dc.publisherWiley-Blackwell
dc.relation.ispartofJournal of Intellectual Disability Research
dc.rightsinfo:eu-repo/semantics/restrictedAccess
dc.rights.licensehttp://olabout.wiley.com/WileyCDA/Section/id-406071.html
dc.subjectCNVen
dc.subjectintellectual disabilityen
dc.subjectMLPAen
dc.subjectqPCRen
dc.subjectsubtelomereen
dc.titleSubtelomeric rearrangements and copy number variations in people with intellectual disabilitiesen
dc.typeinfo:eu-repo/semantics/article
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