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Please use this identifier to cite or link to this item: http://acervodigital.unesp.br/handle/11449/66897
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dc.contributor.authorSilva, Ana Elizabete-
dc.contributor.authorVayego-Lourenço, Sheila Adami-
dc.contributor.authorFett-Conte, Agnes Cristina-
dc.contributor.authorGoloni-Bertollo, Eny Maria-
dc.contributor.authorVarella-Garcia, Marileila-
dc.date.accessioned2014-05-27T11:20:28Z-
dc.date.accessioned2016-10-25T18:17:48Z-
dc.date.available2014-05-27T11:20:28Z-
dc.date.available2016-10-25T18:17:48Z-
dc.date.issued2002-06-01-
dc.identifierhttp://dx.doi.org/10.1590/S0004-282X2002000200021-
dc.identifier.citationArquivos de Neuro-Psiquiatria, v. 60, n. 2 A, p. 290-294, 2002.-
dc.identifier.issn0004-282X-
dc.identifier.urihttp://hdl.handle.net/11449/66897-
dc.identifier.urihttp://acervodigital.unesp.br/handle/11449/66897-
dc.description.abstractWe report a female child with tetrasomy of the 15q11-q13 chromosomal region, and autistic disorder associated with mental retardation, developmental problems and behavioral disorders. Combining classical and molecular cytogenetic approaches by fluorescence in situ hybridization technique, the karyotype was demonstrated as 47,XX,+mar.ish der(15)(D15Z1++,D15S11++,GABRB3++,PML-). Duplication of the 15q proximal segment represents the most consistent chromosomal abnormality reported in association with autism. The contribution of the GABA receptor subunit genes, and other genes mapped to this region, to the clinical symptoms of the disease is discussed.en
dc.format.extent290-294-
dc.language.isoeng-
dc.sourceScopus-
dc.subject15q11-q13-
dc.subjectAutism-
dc.subjectFluorescence in situ hybridization-
dc.subjectGABA receptors-
dc.subjectTetrasomy 15-
dc.subject4 aminobutyric acid receptor-
dc.subjectadolescent-
dc.subjectaneuploidy-
dc.subjectautism-
dc.subjectcase report-
dc.subjectchromosome 11-
dc.subjectchromosome 13-
dc.subjectchromosome 15-
dc.subjectfemale-
dc.subjectfluorescence in situ hybridization-
dc.subjectgenetics-
dc.subjecthuman-
dc.subjecthuman chromosome-
dc.subjectkaryotyping-
dc.subjectAdolescent-
dc.subjectAneuploidy-
dc.subjectAutistic Disorder-
dc.subjectChromosomes, Human-
dc.subjectChromosomes, Human, Pair 11-
dc.subjectChromosomes, Human, Pair 13-
dc.subjectChromosomes, Human, Pair 15-
dc.subjectFemale-
dc.subjectHumans-
dc.subjectIn Situ Hybridization, Fluorescence-
dc.subjectKaryotyping-
dc.subjectReceptors, GABA-
dc.titleTetrasomy 15Q11-Q13 identified by fluorescence in situ hybridization in a patient with autistic disorderen
dc.typeoutro-
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)-
dc.contributor.institutionCEUV-
dc.contributor.institutionFaculdade de Medicina de São José do Rio Preto (FAMERP)-
dc.contributor.institutionUniv. of Colorado Hlth. Sci. Center-
dc.description.affiliationDepartamento de Biologia IBILCE Stt. Univ. of S. Paulo (UNESP) Camp., Sao Jose do Rio Preto, SP-
dc.description.affiliationCtro. Univ. de Votuporanga CEUV, Votuporanga, SP-
dc.description.affiliationDepartamento de Biologia Molecular FAMERP, Sao Jose do Rio Preto, SP-
dc.description.affiliationDepartment of Medicine Univ. of Colorado Hlth. Sci. Center, Denver, CO-
dc.description.affiliationDepartamento de Biologia IBILCE/UNESP, Rua Cristovão Colombo 2265, 15054-000 Sao Jose do Rio Preto SP-
dc.description.affiliationUnespDepartamento de Biologia IBILCE Stt. Univ. of S. Paulo (UNESP) Camp., Sao Jose do Rio Preto, SP-
dc.description.affiliationUnespDepartamento de Biologia IBILCE/UNESP, Rua Cristovão Colombo 2265, 15054-000 Sao Jose do Rio Preto SP-
dc.identifier.doi10.1590/S0004-282X2002000200021-
dc.identifier.scieloS0004-282X2002000200021-
dc.identifier.wosWOS:000175890500022-
dc.rights.accessRightsAcesso aberto-
dc.identifier.file2-s2.0-0036593135.pdf-
dc.relation.ispartofArquivos de Neuro-Psiquiatria-
dc.identifier.scopus2-s2.0-0036593135-
Appears in Collections:Artigos, TCCs, Teses e Dissertações da Unesp

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