{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,1]],"date-time":"2026-10-01T21:45:53Z","timestamp":1790891153846,"version":"4.1.0"},"reference-count":47,"publisher":"Wiley","issue":"6","license":[{"start":{"date-parts":[[2013,2,20]],"date-time":"2013-02-20T00:00:00Z","timestamp":1361318400000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Clinical Genetics"],"published-print":{"date-parts":[[2013,12]]},"abstract":"<jats:p>Fragile X testing is a priority in the evaluation of autism spectrum disorders (<jats:styled-content style=\"fixed-case\">ASD<\/jats:styled-content>) cases because identification of the <jats:italic><jats:styled-content style=\"fixed-case\">FMR1<\/jats:styled-content><\/jats:italic> mutation leads to new treatment options. This study is focused on determining the prevalence of the <jats:italic><jats:styled-content style=\"fixed-case\">FMR1<\/jats:styled-content><\/jats:italic> gene mutation among <jats:styled-content style=\"fixed-case\">ASD<\/jats:styled-content> cases in Indonesia. <jats:styled-content style=\"fixed-case\">DSM\u2010IV\u2010TR<\/jats:styled-content> criteria were administered to diagnose <jats:styled-content style=\"fixed-case\">ASD<\/jats:styled-content>; symptom severity was classified using the Childhood Autism Rating Scale. Cytogenetic analysis, polymerase chain reaction, and Southern blot for <jats:italic><jats:styled-content style=\"fixed-case\">FMR1<\/jats:styled-content><\/jats:italic> gene analysis were carried out to confirm the diagnosis of fragile X syndrome. The fragile X site and <jats:italic><jats:styled-content style=\"fixed-case\">FMR1<\/jats:styled-content><\/jats:italic> full mutation allele were identified in 3 out of 65 (4.6%) and 4 out of 65 (6.15%) children aged 3\u201317\u2009years (57 boys and 8 girls), respectively. The Fragile X laboratory workup is essential in the evaluation of patients with <jats:styled-content style=\"fixed-case\">ASD<\/jats:styled-content>. Molecular analysis is most accurate, while cytogenetic documentation of the fragile X site can also be useful if molecular testing is not available.<\/jats:p>","DOI":"10.1111\/cge.12095","type":"journal-article","created":{"date-parts":[[2013,1,16]],"date-time":"2013-01-16T09:27:30Z","timestamp":1358328450000},"page":"577-580","source":"Crossref","is-referenced-by-count":13,"title":["Fragile X syndrome: clinical, cytogenetic and\u00a0molecular screening among autism spectrum disorder children in Indonesia"],"prefix":"10.1111","volume":"84","author":[{"given":"TI","family":"Winarni","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A","family":"Utari","sequence":"additional","affiliation":[{"name":"Department of Pediatrics, National Hospital Faculty of Medicine, Diponegoro University  Semarang Central Java Indonesia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"FEP","family":"Mundhofir","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"RJ","family":"Hagerman","sequence":"additional","affiliation":[{"name":"Medical Investigation of Neurodevelopmental Disorders (MIND) Institute and Department of Pediatrics University of California\u2010Davis, Medical Center  Sacramento CA USA"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"SMH","family":"Faradz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"311","published-online":{"date-parts":[[2013,2,20]]},"reference":[{"key":"e_1_2_6_2_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.2005-1516"},{"key":"e_1_2_6_3_1","doi-asserted-by":"publisher","DOI":"10.1542\/peds.108.5.1155"},{"key":"e_1_2_6_4_1","first-page":"1","volume-title":"Atlanta: centers for disease control and prevention","author":"Autism Developmental Disabilities Monitoring Network","year":"2012"},{"key":"e_1_2_6_5_1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2008.059055"},{"key":"e_1_2_6_6_1","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2009.080173"},{"key":"e_1_2_6_7_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.10427"},{"key":"e_1_2_6_8_1","doi-asserted-by":"publisher","DOI":"10.3310\/hta7160"},{"key":"e_1_2_6_9_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230129"},{"key":"e_1_2_6_10_1","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320230128"},{"key":"e_1_2_6_11_1","doi-asserted-by":"publisher","DOI":"10.1007\/s11689-010-9067-y"},{"key":"e_1_2_6_12_1","doi-asserted-by":"publisher","DOI":"10.1352\/2008.113:427-438"},{"key":"e_1_2_6_13_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.2010.01255.x"},{"key":"e_1_2_6_14_1","doi-asserted-by":"publisher","DOI":"10.1352\/0895-8017(2004)109<208:LACFAA>2.0.CO;2"},{"key":"e_1_2_6_15_1","doi-asserted-by":"publisher","DOI":"10.1023\/A:1005412111706"},{"key":"e_1_2_6_16_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1365-2788.2008.01107.x"},{"key":"e_1_2_6_17_1","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-6-3"},{"key":"e_1_2_6_18_1","doi-asserted-by":"publisher","DOI":"10.1097\/00041444-200106000-00001"},{"key":"e_1_2_6_19_1","first-page":"135","article-title":"The fragile x mental retardation syndrome 20\u2009years after the FMR1 gene discovery: an expanding universe of knowledge","volume":"32","author":"Rousseau F","year":"2011","journal-title":"Clin Biochem Rev"},{"key":"e_1_2_6_20_1","doi-asserted-by":"publisher","DOI":"10.1038\/nn1765"},{"key":"e_1_2_6_21_1","doi-asserted-by":"publisher","DOI":"10.1186\/2040-2392-1-12"},{"key":"e_1_2_6_22_1","doi-asserted-by":"publisher","DOI":"10.1038\/sj.mp.4001167"},{"key":"e_1_2_6_23_1","doi-asserted-by":"publisher","DOI":"10.1007\/978-3-642-21649-7_17"},{"key":"e_1_2_6_24_1","doi-asserted-by":"publisher","DOI":"10.1126\/scitranslmed.3003501"},{"key":"e_1_2_6_25_1","first-page":"8pages","article-title":"Sertraline may improve language developmental trajectory in young children with fragile x syndrome: a retrospective chart review","volume":"2012","author":"Winarni TI","year":"2012","journal-title":"Autism Res Treat"},{"key":"e_1_2_6_26_1","doi-asserted-by":"publisher","DOI":"10.1111\/j.1469-8749.2002.tb00266.x"},{"key":"e_1_2_6_27_1","doi-asserted-by":"publisher","DOI":"10.1176\/appi.books.9780890423349"},{"key":"e_1_2_6_28_1","doi-asserted-by":"publisher","DOI":"10.1007\/BF02408436"},{"key":"e_1_2_6_29_1","doi-asserted-by":"publisher","DOI":"10.1007\/s10803-005-0006-9"},{"key":"e_1_2_6_30_1","first-page":"125","article-title":"Heritable fragile sites on human chromosomes I. 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