{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,9,29]],"date-time":"2026-09-29T03:50:32Z","timestamp":1790653832838,"version":"4.1.0"},"reference-count":22,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2014,1,1]],"date-time":"2014-01-01T00:00:00Z","timestamp":1388534400000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["Mol Syndromol"],"published-print":{"date-parts":[[2014]]},"abstract":"<jats:p>Fragile X syndrome (FXS) is one of the most common causes of intellectual disability\/developmental delay (ID\/DD), especially in males. It is caused most often by CGG trinucleotide repeat expansions, and less frequently by point mutations and partial or full deletions of the &lt;i&gt;FMR1&lt;\/i&gt; gene. The wide clinical spectrum of affected females partly depends on their X-inactivation status. Only few female ID\/DD patients with microdeletions including &lt;i&gt;FMR1&lt;\/i&gt; have been reported. We describe 3 female patients with 3.5-, 4.2- and 9.2-Mb de novo microdeletions in Xq27.3-q28 containing &lt;i&gt;FMR1&lt;\/i&gt;. X-inactivation was random in all patients, yet they presented with ID\/DD as well as speech delay, macrocephaly and other features attributable to FXS. No signs of autism were present. Here, we further delineate the clinical spectrum of female patients with microdeletions. &lt;i&gt;FMR1&lt;\/i&gt; expression studies gave no evidence for an absolute threshold below which signs of FXS present. Since &lt;i&gt;FMR1&lt;\/i&gt; expression is known to be highly variable between unrelated females, and since &lt;i&gt;FMR1 &lt;\/i&gt;mRNA levels have been suggested to be more similar among family members, we further explored the possibility of an intrafamilial effect. Interestingly, &lt;i&gt;FMR1&lt;\/i&gt; mRNA levels in all 3 patients were significantly lower than in their respective mothers, which was shown to be specific for patients with microdeletions containing &lt;i&gt;FMR1&lt;\/i&gt;.<\/jats:p>","DOI":"10.1159\/000357962","type":"journal-article","created":{"date-parts":[[2014,2,19]],"date-time":"2014-02-19T06:48:33Z","timestamp":1392792513000},"page":"65-75","source":"Crossref","is-referenced-by-count":7,"title":["Microdeletions Including FMR1 in Three Female Patients with Intellectual Disability - Further Delineation of the Phenotype and Expression Studies"],"prefix":"10.1159","volume":"5","author":[{"given":"A.M.","family":"Zink","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Wohlleber","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Engels","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"O.K.","family":"R\u00f8dningen","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"K.","family":"Ravn","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Heilmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Rehnitz","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Katzorke","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"C.","family":"Kraus","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Blichfeldt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.","family":"Hoffmann","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"H.","family":"Reutter","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.F.","family":"Brockschmidt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"Krei\u00df-Nachtsheim","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"P.H.","family":"Vogt","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"T.E.","family":"Prescott","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Z.","family":"T\u00fcmer","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.A.","family":"Lee","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2014,1,28]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-004-1086-x"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1098-1004(1996)7:3<266::AID-HUMU12>3.0.CO;2-0"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2009.90"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1126\/science.7732383"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.2353\/jmoldx.2009.080174"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1007\/s00415-011-6161-3"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1261\/rna.206307"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/ng0892-341"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19971112)72:4<430::AID-AJMG11>3.0.CO;2-S"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1086\/301651"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1186\/1471-2350-14-49"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1007\/s10048-012-0340-y"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1097\/01.DBP.0000267563.18952.c9"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1146\/annurev.neuro.25.112701.142909"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990402)83:4<302::AID-AJMG13>3.0.CO;2-P"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1159\/000350041"},{"key":"ref17","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31781"},{"key":"ref18","doi-asserted-by":"publisher","DOI":"10.1007\/BF00196232"},{"key":"ref19","doi-asserted-by":"publisher","DOI":"10.1093\/humrep\/der018"},{"key":"ref20","doi-asserted-by":"publisher","DOI":"10.1086\/302720"},{"key":"ref21","doi-asserted-by":"publisher","DOI":"10.1016\/j.pediatrneurol.2004.10.009"},{"key":"ref22","doi-asserted-by":"publisher","DOI":"10.1007\/s004390050501"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/357962","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/357962","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:33:17Z","timestamp":1745433197000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000357962"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2014]]},"references-count":22,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2014,2,1]]},"published-print":{"date-parts":[[2014,2,20]]}},"URL":"https:\/\/doi.org\/10.1159\/000357962","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2014]]}}}