{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,20]],"date-time":"2026-10-20T15:50:29Z","timestamp":1792511429361,"version":"4.5.0"},"reference-count":41,"publisher":"Wiley","issue":"10","license":[{"start":{"date-parts":[[2008,4,15]],"date-time":"2008-04-15T00:00:00Z","timestamp":1208217600000},"content-version":"vor","delay-in-days":0,"URL":"http:\/\/onlinelibrary.wiley.com\/termsAndConditions#vor"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["American J of Med Genetics Pt A"],"published-print":{"date-parts":[[2008,5,15]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The most common cause of fragile X syndrome is expansion of a CGG trinucleotide repeat in the 5\u2032UTR of <jats:italic>FMR1<\/jats:italic>. This expansion leads to transcriptional silencing of the gene. However, other mutational mechanisms, such as deletions of <jats:italic>FMR1<\/jats:italic>, also cause fragile X syndrome. The result is the same for both the expansion mediated silencing and deletion, absence of the gene product, FMRP. We report here on an 11\u2010year\u2010old boy with a cognitive and behavioral profile with features compatible with, but not specific to, fragile X syndrome. A mosaic deletion of 1,013,395 bp was found using high\u2010density X chromosome microarray analysis followed by sequencing of the deletion breakpoints. We review the literature of <jats:italic>FMR1<\/jats:italic> deletions and present this case in the context of other <jats:italic>FMR1<\/jats:italic> deletions having mental retardation that may or may not have the classic fragile X phenotype. \u00a9 2008 Wiley\u2010Liss, Inc.<\/jats:p>","DOI":"10.1002\/ajmg.a.32261","type":"journal-article","created":{"date-parts":[[2008,4,15]],"date-time":"2008-04-15T16:55:49Z","timestamp":1208278549000},"page":"1358-1367","source":"Crossref","is-referenced-by-count":97,"title":["Mosaic <i>FMR1<\/i> deletion causes fragile X syndrome and can lead to molecular misdiagnosis: A case report and review of the literature"],"prefix":"10.1002","volume":"146A","author":[{"given":"Bradford","family":"Coffee","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Morna","family":"Ikeda","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Dejan 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