Laboratorial diagnosis of fragile-X syndrome - Experience in a sample of individuals with pervasive developmental disorders

dc.creatorSteiner, CE
dc.creatorGuerreiro, MM
dc.creatorMarques-De-Faria, AP
dc.creatorLopes-Cendes, I
dc.date2005
dc.dateSEP
dc.date2014-11-16T03:02:56Z
dc.date2015-11-26T16:19:15Z
dc.date2014-11-16T03:02:56Z
dc.date2015-11-26T16:19:15Z
dc.date.accessioned2018-03-28T23:02:16Z
dc.date.available2018-03-28T23:02:16Z
dc.identifierArquivos De Neuro-psiquiatria. Assoc Arquivos De Neuro- Psiquiatria, v. 63, n. 3A, n. 564, n. 570, 2005.
dc.identifier0004-282X
dc.identifierWOS:000231669900002
dc.identifier10.1590/S0004-282X2005000400002
dc.identifierhttp://www.repositorio.unicamp.br/jspui/handle/REPOSIP/61052
dc.identifierhttp://www.repositorio.unicamp.br/handle/REPOSIP/61052
dc.identifierhttp://repositorio.unicamp.br/jspui/handle/REPOSIP/61052
dc.identifier.urihttp://repositorioslatinoamericanos.uchile.cl/handle/2250/1267661
dc.descriptionFragile X syndrome is a frequent genetic disease associated to developmental disorders, including learning disability, mental retardation, behavioral problems and pervasive developmental disorders (autism and related conditions). We studied a sample of 82 individuals (69 males and 13 females) presenting with pervasive developmental disorders using three techniques for the diagnosis of fragile X syndrome (FXS). Cytogenetic analysis detected the fragile site in four males, but only one showed a consistent positive rate. Molecular study based on the PCR technique was inconclusive for most females (92.3%), which where latter submitted to Southern blotting analysis, and for one male (1.4%), excluding the FRAXA mutation in the remaining male individuals (98.6%). Molecular tests using the Southern blotting technique confirmed only one positive case (1.2%) in a male subject. These results showed that Southern blotting analysis of the FRAXA mutation has the best sensitivity and specificity for the diagnosis of FXS but also validated the PCR technique as a confinable screening test.
dc.description63
dc.description3A
dc.description564
dc.description570
dc.languageen
dc.publisherAssoc Arquivos De Neuro- Psiquiatria
dc.publisherSao Paulo Sp
dc.publisherBrasil
dc.relationArquivos De Neuro-psiquiatria
dc.relationArq. Neuro-Psiquiatr.
dc.rightsaberto
dc.sourceWeb of Science
dc.subjectPCR
dc.subjectmolecular diagnosis
dc.subjectFRAXA
dc.subjectautism
dc.subjectmental retardation
dc.subjectpervasive developmental disorders
dc.subjectChromosome
dc.subjectRepeat
dc.subjectFraxa
dc.subjectDna
dc.subjectMethylation
dc.subjectInstability
dc.subjectMutations
dc.subjectFmr1
dc.subjectSite
dc.subjectPopulation
dc.titleLaboratorial diagnosis of fragile-X syndrome - Experience in a sample of individuals with pervasive developmental disorders
dc.typeArtículos de revistas


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