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Molecular and Cytogenetic Analyses on Brazilian Youths with Pervasive Developmental Disorders

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dc.contributor.authorHigino Estécio, Marcos Roberto [UNESP]
dc.contributor.authorFett-Conte, Agnes Cristina
dc.contributor.authorVarella-Garcia, Marileila
dc.contributor.authorFridman, Cíntia
dc.contributor.authorSilva, Ana Elizabete [UNESP]
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.date.accessioned2014-05-27T11:20:24Z
dc.date.available2014-05-27T11:20:24Z
dc.date.issued2002-02-01
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.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.format.extent35-41
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.doi10.1023/A:1017952123258
dc.identifier.issn0162-3257
dc.identifier.scopus2-s2.0-0036481198
dc.identifier.urihttp://hdl.handle.net/11449/66812
dc.identifier.wosWOS:000174410600005
dc.language.isoeng
dc.relation.ispartofJournal of Autism and Developmental Disorders
dc.relation.ispartofjcr3.476
dc.relation.ispartofsjr1,810
dc.rights.accessRightsAcesso restrito
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.typeArtigo
dcterms.licensehttp://www.springer.com/open+access/authors+rights
dspace.entity.typePublication
unesp.author.lattes2503906319038306[5]
unesp.author.orcid0000-0003-1491-8878[5]
unesp.campusUniversidade Estadual Paulista (UNESP), Instituto de Biociências Letras e Ciências Exatas, São José do Rio Pretopt
unesp.departmentBiologia - IBILCEpt

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São José do Rio Preto - IBILCE - Instituto de Biociências, Letras e Ciências Exatas