Tetrasomy 15Q11-Q13 identified by fluorescence in situ hybridization in a patient with autistic disorder

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dc.contributor.authorSilva, Ana Elizabete [UNESP]
dc.contributor.authorVayego-Lourenço, Sheila Adami
dc.contributor.authorFett-Conte, Agnes Cristina
dc.contributor.authorGoloni-Bertollo, Eny Maria
dc.contributor.authorVarella-Garcia, Marileila
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.date.accessioned2014-05-27T11:20:28Z
dc.date.available2014-05-27T11:20:28Z
dc.date.issued2002-06-01
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.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.format.extent290-294
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.doi10.1590/S0004-282X2002000200021
dc.identifier.file2-s2.0-0036593135.pdf
dc.identifier.issn0004-282X
dc.identifier.scieloS0004-282X2002000200021
dc.identifier.scopus2-s2.0-0036593135
dc.identifier.urihttp://hdl.handle.net/11449/66897
dc.identifier.wosWOS:000175890500022
dc.language.isoeng
dc.relation.ispartofArquivos de Neuro-Psiquiatria
dc.relation.ispartofjcr1.015
dc.rights.accessRightsAcesso aberto
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.typeArtigo
dcterms.licensehttp://www.scielo.br/revistas/anp/paboutj.htm
unesp.author.lattes2503906319038306[1]
unesp.author.orcid0000-0003-1491-8878[1]
unesp.campusUniversidade Estadual Paulista (Unesp), Instituto de Biociências Letras e Ciências Exatas, São José do Rio Pretopt

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