{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:56:04Z","timestamp":1761101764198},"reference-count":25,"publisher":"FapUNIFESP (SciELO)","issue":"3a","content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Arq. Neuro-Psiquiatr."],"published-print":{"date-parts":[[2005,9]]},"abstract":"<jats:p>Fragile 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.<\/jats:p>","DOI":"10.1590\/s0004-282x2005000400002","type":"journal-article","created":{"date-parts":[[2006,1,9]],"date-time":"2006-01-09T18:15:35Z","timestamp":1136830535000},"page":"564-570","source":"Crossref","is-referenced-by-count":2,"title":["Laboratorial diagnosis of fragile-X syndrome: experience in a sample of individuals with pervasive developmental disorders"],"prefix":"10.1590","volume":"63","author":[{"given":"Carlos Eduardo","family":"Steiner","sequence":"first","affiliation":[{"name":"Departamento de Gen\u00e9tica M\u00e9dica"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Marilisa Mantovani","family":"Guerreiro","sequence":"additional","affiliation":[{"name":"Universidade Estadual de Campinas,  Brazil"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonia Paula","family":"Marques-de-Faria","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica M\u00e9dica"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Iscia","family":"Lopes-Cendes","sequence":"additional","affiliation":[{"name":"Departamento de Gen\u00e9tica M\u00e9dica"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"530","reference":[{"key":"ref1","doi-asserted-by":"crossref","first-page":"154","DOI":"10.1136\/jnnp.6.3-4.154","article-title":"A pedigree of mental defect showing sex-linkage","volume":"6","author":"Martin JP","year":"1943","journal-title":"J Neurol Neurosurg Psychiatry","ISSN":"http:\/\/id.crossref.org\/issn\/0022-3050","issn-type":"print"},{"key":"ref2","first-page":"231","article-title":"A marker X chromosome","volume":"21","author":"Lubs HA","year":"1969","journal-title":"Am J Hum Genet","ISSN":"http:\/\/id.crossref.org\/issn\/0002-9297","issn-type":"print"},{"key":"ref3","doi-asserted-by":"crossref","first-page":"229","DOI":"10.1038\/ng1194-229","article-title":"Isolation of a GCC repeat showing expansion in FRAXF, a fragile site distal to FRAXA and FRAXE","volume":"8","author":"Parrish JE","year":"1994","journal-title":"Nat Genet","ISSN":"http:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"},{"key":"ref4","doi-asserted-by":"crossref","first-page":"2115","DOI":"10.1093\/hmg\/3.12.2115","article-title":"The cloning of FRAXF: trinucleotide repeat expansion and methylation at a third fragile site in distal Xqter","volume":"3","author":"Ritchie RJ","year":"1994","journal-title":"Hum Mol Genet","ISSN":"http:\/\/id.crossref.org\/issn\/0964-6906","issn-type":"print"},{"key":"ref5","doi-asserted-by":"crossref","first-page":"1097","DOI":"10.1126\/science.252.5009.1097","article-title":"Instability of a 550-base pair DNA segment and abnormal methylation in fragile-X syndrome","volume":"252","author":"Oberl\u00e9 I","year":"1991","journal-title":"Science","ISSN":"http:\/\/id.crossref.org\/issn\/0036-8075","issn-type":"print"},{"key":"ref6","doi-asserted-by":"crossref","first-page":"1047","DOI":"10.1016\/0092-8674(91)90283-5","article-title":"Variation of the CGG repeat at the fragile X site results in genetic instability: resolution of the Sherman paradox","volume":"67","author":"Fu YH","year":"1991","journal-title":"Cell","ISSN":"http:\/\/id.crossref.org\/issn\/0092-8674","issn-type":"print"},{"key":"ref7","doi-asserted-by":"crossref","first-page":"1711","DOI":"10.1126\/science.1675488","article-title":"Mapping of DNA instability at the fragile-X to a trinucleotide repeat sequence p(CGG)n","volume":"252","author":"Kremer EJ","year":"1991","journal-title":"Science","ISSN":"http:\/\/id.crossref.org\/issn\/0036-8075","issn-type":"print"},{"key":"ref8","doi-asserted-by":"crossref","first-page":"1179","DOI":"10.1126\/science.252.5009.1179","article-title":"Fragile-X genotype characterized by an unstable region of DNA","volume":"252","author":"Yu S","year":"1991","journal-title":"Science","ISSN":"http:\/\/id.crossref.org\/issn\/0036-8075","issn-type":"print"},{"key":"ref9","doi-asserted-by":"crossref","first-page":"110","DOI":"10.1002\/1096-8628(20010422)100:2<110::AID-AJMG1242>3.0.CO;2-I","article-title":"Problems in the diagnosis of fragile X syndrome in young children are still present","volume":"100","author":"Stoll C","year":"2001","journal-title":"Am J Med Genet","ISSN":"http:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref10","doi-asserted-by":"crossref","first-page":"1","DOI":"10.1017\/S0965539500000942","article-title":"Diagnosis of fragile X syndrome","volume":"6","author":"Mulley JC","year":"1994","journal-title":"Fetal Matern Med Rev"},{"key":"ref11","doi-asserted-by":"crossref","first-page":"9","DOI":"10.1590\/S0004-282X1998000100002","article-title":"Fragile X syndrome: clinical and cytogenetic studies","volume":"56","author":"F\u00e9lix TM","year":"1998","journal-title":"Arq Neuropsiquiatr","ISSN":"http:\/\/id.crossref.org\/issn\/0004-282X","issn-type":"print"},{"key":"ref12","doi-asserted-by":"crossref","first-page":"176","DOI":"10.1590\/S0004-282X2003000200003","article-title":"Genetic and neurological evaluation in a sample of individuals with pervasive developmental disorders","volume":"61","author":"Steiner CE","year":"2003","journal-title":"Arq Neuropsiquiatr","ISSN":"http:\/\/id.crossref.org\/issn\/0004-282X","issn-type":"print"},{"key":"ref13","doi-asserted-by":"crossref","first-page":"400","DOI":"10.1002\/ajmg.1320380249","article-title":"Guidelines for the preparation and analysis of the fragile X chromosome in lymphocytes","volume":"38","author":"Jacky PB","year":"1991","journal-title":"Am J Med Genet","ISSN":"http:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref14","doi-asserted-by":"crossref","first-page":"368","DOI":"10.1136\/jmg.29.6.368","article-title":"Experience with direct molecular diagnosis of fragile X","volume":"29","author":"Mulley JC","year":"1992","journal-title":"J Med Genet","ISSN":"http:\/\/id.crossref.org\/issn\/0022-2593","issn-type":"print"},{"key":"ref15","doi-asserted-by":"crossref","first-page":"503","DOI":"10.1016\/S0022-2836(75)80083-0","article-title":"Detection of specific sequences among DNA fragments separated by gel electrophoresis","volume":"98","author":"Southern EM","year":"1975","journal-title":"J Mol Biol","ISSN":"http:\/\/id.crossref.org\/issn\/0022-2836","issn-type":"print"},{"key":"ref16","doi-asserted-by":"crossref","first-page":"293","DOI":"10.1111\/j.1469-8749.1985.tb04539.x","article-title":"Chromosome abnormalities in infantile autism and other childhood psychosis: a population study of 66 cases","volume":"27","author":"Gillberg C","year":"1985","journal-title":"Dev Med Child Neurol","ISSN":"http:\/\/id.crossref.org\/issn\/0012-1622","issn-type":"print"},{"key":"ref17","doi-asserted-by":"crossref","first-page":"43","DOI":"10.1016\/S0920-9964(99)00035-3","article-title":"Cytogenetic findings in 250 schizophrenics: evidence confirming an excess of the X chromosome aneuploidies and pericentric inversion of chromosome 9","volume":"40","author":"Kunugi H","year":"1999","journal-title":"Schizophrenia Research","ISSN":"http:\/\/id.crossref.org\/issn\/0920-9964","issn-type":"print"},{"key":"ref18","doi-asserted-by":"crossref","first-page":"736","DOI":"10.1111\/j.1469-8749.1994.tb11916.x","article-title":"Duplication of the 15q11-13 region in a patient with autism, epilepsy and ataxia","volume":"36","author":"Bundey S","year":"1994","journal-title":"Dev Med Child Neurol","ISSN":"http:\/\/id.crossref.org\/issn\/0012-1622","issn-type":"print"},{"key":"ref19","doi-asserted-by":"crossref","first-page":"224","DOI":"10.1007\/s004390050495","article-title":"Molecular genetic analysis of the FMR-1 gene in a large collection of autistic patients","volume":"100","author":"Klauck SM","year":"1997","journal-title":"Hum Genet","ISSN":"http:\/\/id.crossref.org\/issn\/0340-6717","issn-type":"print"},{"key":"ref20","doi-asserted-by":"crossref","first-page":"795","DOI":"10.1016\/S0022-3476(98)70306-3","article-title":"The prevalence of the FMR1 and FMR2 mutations among preschool children with language delay","volume":"132","author":"Mazzoco MMM","year":"1998","journal-title":"J Pediatr","ISSN":"http:\/\/id.crossref.org\/issn\/0022-3476","issn-type":"print"},{"key":"ref21","doi-asserted-by":"crossref","first-page":"98","DOI":"10.1034\/j.1399-0004.1999.560116.x","article-title":"Screening for FMR1 mutations among the mentally retarded: prevalence of the fragile X in Spain","volume":"56","author":"Mill\u00e1n JM","year":"1999","journal-title":"Clin Genet","ISSN":"http:\/\/id.crossref.org\/issn\/0009-9163","issn-type":"print"},{"key":"ref22","doi-asserted-by":"crossref","first-page":"184","DOI":"10.1002\/(SICI)1096-8628(19990528)84:3<184::AID-AJMG2>3.0.CO;2-B","article-title":"Molecular screening of fragile X (FRAXA) and FRAXE mental retardation syndromes in the Hellenic population of Greece and Cyprus: incidence, genetic variation, and stability","volume":"84","author":"Patsalis PC","year":"1999","journal-title":"Am J Med Genet","ISSN":"http:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref23","doi-asserted-by":"crossref","first-page":"450","DOI":"10.1007\/s004390100519","article-title":"Evaluation of the fragile X (FRAXA) syndrome with methuylation-sensitive PCR","volume":"108","author":"Weinh\u00e4usel A","year":"2001","journal-title":"Hum Genet","ISSN":"http:\/\/id.crossref.org\/issn\/0340-6717","issn-type":"print"},{"key":"ref24","doi-asserted-by":"crossref","first-page":"198","DOI":"10.1002\/(SICI)1096-8628(19990528)84:3<198::AID-AJMG5>3.0.CO;2-W","article-title":"Fully mutated and gray-zone FRAXA alleles in Brazilian mentally retarded boys","volume":"84","author":"Haddad LA","year":"1999","journal-title":"Am J Med Genet","ISSN":"http:\/\/id.crossref.org\/issn\/0148-7299","issn-type":"print"},{"key":"ref25","doi-asserted-by":"crossref","first-page":"483","DOI":"10.1038\/ng0895-483","article-title":"Intragenic loss of function mutations demonstrate the primary role of FMR1 gene in fragile X syndrome","volume":"10","author":"Lugenbeel KA","year":"1995","journal-title":"Nat Genet","ISSN":"http:\/\/id.crossref.org\/issn\/1061-4036","issn-type":"print"}],"container-title":["Arquivos de Neuro-Psiquiatria"],"original-title":[],"link":[{"URL":"http:\/\/www.scielo.br\/pdf\/anp\/v63n3a\/a02v633a.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2017,5,25]],"date-time":"2017-05-25T08:44:50Z","timestamp":1495701890000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.scielo.br\/scielo.php?script=sci_arttext&pid=S0004-282X2005000400002&lng=en&tlng=en"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2005,9]]},"references-count":25,"journal-issue":{"issue":"3a","published-print":{"date-parts":[[2005,9]]}},"alternative-id":["S0004-282X2005000400002"],"URL":"https:\/\/doi.org\/10.1590\/s0004-282x2005000400002","relation":{},"ISSN":["0004-282X"],"issn-type":[{"value":"0004-282X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2005,9]]}}}