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Please use this identifier to cite or link to this item: http://acervodigital.unesp.br/handle/11449/66812
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dc.contributor.authorHigino Estécio, Marcos Roberto-
dc.contributor.authorFett-Conte, Agnes Cristina-
dc.contributor.authorVarella-Garcia, Marileila-
dc.contributor.authorFridman, Cíntia-
dc.contributor.authorSilva, Ana Elizabete-
dc.date.accessioned2014-05-27T11:20:24Z-
dc.date.accessioned2016-10-25T18:17:37Z-
dc.date.available2014-05-27T11:20:24Z-
dc.date.available2016-10-25T18:17:37Z-
dc.date.issued2002-02-01-
dc.identifierhttp://dx.doi.org/10.1023/A:1017952123258-
dc.identifier.citationJournal of Autism and Developmental Disorders, v. 32, n. 1, p. 35-41, 2002.-
dc.identifier.issn0162-3257-
dc.identifier.urihttp://hdl.handle.net/11449/66812-
dc.identifier.urihttp://acervodigital.unesp.br/handle/11449/66812-
dc.description.abstractThe Pervasive Developmental Disorders (PDDs) constitute a group of behavioral and neurobiological impairment conditions whose main features are delayed communicative and cognitive development. Genetic factors are reportedly associated with PDDs and particular genetic abnormalities are frequently found in specific diagnostic subgroups such as the autism spectrum disorders. This study evaluated cytogenetic and molecular parameters in 30 youths with autism or other PDDs. The fragile X syndrome was the most common genetic abnormality detected, presented by 1 patient with autism and 1 patient with PPD not-otherwise specified (PPD-NOS). One girl with PDD-NOS was found to have tetrasomy for the 15q11-q13 region, and one patient with autism exhibited in 2/100 metaphases an inv(7)(p15q36), thus suggesting a mosaicism 46,XX/46,XX,inv(7)(p15q36) or representing a coincidental finding. The high frequency of chromosomopathies support the hypothesis that PDDs may develop as a consequence to chromosomal abnormalities and justify the cytogenetic and molecular assessment in all patients with PDDs for establishment of diagnosis.en
dc.format.extent35-41-
dc.language.isoeng-
dc.sourceScopus-
dc.subjectCytogenetic analysis-
dc.subjectFragile X-
dc.subjectGenetic factors-
dc.subjectPDD-
dc.subjectPDD-NOS-
dc.subjectadolescent-
dc.subjectadult-
dc.subjectautism-
dc.subjectbehavior disorder-
dc.subjectBrazil-
dc.subjectchild-
dc.subjectchild behavior-
dc.subjectchromosome 15q-
dc.subjectchromosome aberration-
dc.subjectchromosome inversion-
dc.subjectchromosome mosaicism-
dc.subjectclinical article-
dc.subjectclinical feature-
dc.subjectcognitive development-
dc.subjectcontrolled study-
dc.subjectcytogenetics-
dc.subjectdevelopmental disorder-
dc.subjectfemale-
dc.subjectfragile X syndrome-
dc.subjectgenetic disorder-
dc.subjectheredity-
dc.subjecthuman-
dc.subjectinterpersonal communication-
dc.subjectjuvenile-
dc.subjectkaryotype 46,XX-
dc.subjectmale-
dc.subjectmetaphase-
dc.subjectneurobiology-
dc.subjectpriority journal-
dc.subjecttetrasomy-
dc.subjectAsperger syndrome-
dc.subjectclassification-
dc.subjectgenetic screening-
dc.subjectgenetics-
dc.subjectkaryotyping-
dc.subjectnucleotide sequence-
dc.subjectpolymerase chain reaction-
dc.subjectpreschool child-
dc.subjectRett syndrome-
dc.subjectAdolescent-
dc.subjectAdult-
dc.subjectAsperger Syndrome-
dc.subjectAutistic Disorder-
dc.subjectChild-
dc.subjectChild Development Disorders, Pervasive-
dc.subjectChild, Preschool-
dc.subjectChromosome Aberrations-
dc.subjectDNA Mutational Analysis-
dc.subjectFemale-
dc.subjectFragile X Syndrome-
dc.subjectGenetic Screening-
dc.subjectHumans-
dc.subjectKaryotyping-
dc.subjectMale-
dc.subjectPolymerase Chain Reaction-
dc.subjectRett Syndrome-
dc.titleMolecular and Cytogenetic Analyses on Brazilian Youths with Pervasive Developmental Disordersen
dc.typeoutro-
dc.contributor.institutionUniversidade Estadual Paulista (UNESP)-
dc.contributor.institutionFaculdade de Medicina de São José do Rio Preto (FAMERP)-
dc.contributor.institutionUniv. of Colorado Hlth. Sci. Center-
dc.contributor.institutionUniversidade de São Paulo (USP)-
dc.description.affiliationLab. de Citogenetica e Biol. Molec. Instituto de Biociências Letras e Ciências Exatas-UNESP, São Jose do Rio Preto, SP-
dc.description.affiliationLaboratório de Genetica Departamento de Biologia Molecular FAMERP, São Jose do Rio Preto, SP-
dc.description.affiliationUniv. of Colorado Hlth. Sci. Center, Denver, CO-
dc.description.affiliationInstituto de Biociências Universidade de São Paulo, São Paulo, SP-
dc.description.affiliationDepartamento de Biologia Instituto de Biociências Letras e Ciências Exatas-UNESP, Rua Cristovão Colombo, 2265, 15054-000, Sao Jose do Rio Preto, SP-
dc.description.affiliationUnespLab. de Citogenetica e Biol. Molec. Instituto de Biociências Letras e Ciências Exatas-UNESP, São Jose do Rio Preto, SP-
dc.description.affiliationUnespDepartamento de Biologia Instituto de Biociências Letras e Ciências Exatas-UNESP, Rua Cristovão Colombo, 2265, 15054-000, Sao Jose do Rio Preto, SP-
dc.identifier.doi10.1023/A:1017952123258-
dc.identifier.wosWOS:000174410600005-
dc.rights.accessRightsAcesso restrito-
dc.relation.ispartofJournal of Autism and Developmental Disorders-
dc.identifier.scopus2-s2.0-0036481198-
Appears in Collections:Artigos, TCCs, Teses e Dissertações da Unesp

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