{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,3]],"date-time":"2026-10-03T15:38:20Z","timestamp":1791041900484,"version":"4.1.0"},"reference-count":14,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2013,1,1]],"date-time":"2013-01-01T00:00:00Z","timestamp":1356998400000},"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":[[2013]]},"abstract":"<jats:p>We report a 2.3-year-old female patient with global developmental delay, infantile spasms, hypotonia, microcephaly, flat face, full cheeks, macroglossia, highly arched palate, retro-gnathia, narrow ear orifices, and caf\u00e9-au-lait spots. Molecular karyotyping revealed approximately a 1-Mb interstitial deletion of the long arm of one chromosome 12, del(12)(q24.31). The same deletion was identified in her father who presents insulin-dependent diabetes mellitus (IDDM) diagnosed at 14 years. Only one other patient with a similar de novo deletion has been reported previously [Mol Syndromol 2010;1:42-45]. A phenotype-genotype correlation is discussed, and the description of a novel rare microdeletion entity is raised.<\/jats:p>","DOI":"10.1159\/000346473","type":"journal-article","created":{"date-parts":[[2013,1,14]],"date-time":"2013-01-14T15:35:42Z","timestamp":1358177742000},"page":"136-142","source":"Crossref","is-referenced-by-count":20,"title":["Report on a Patient with a 12q24.31 Microdeletion Inherited from an Insulin-Dependent Diabetes Mellitus Father"],"prefix":"10.1159","volume":"4","author":[{"given":"E.","family":"Chouery","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"N.","family":"Choucair","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.","family":"Abou Ghoch","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"El Sabbagh","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"S.","family":"Corbani","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"A.","family":"M\u00e9garban\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2013,1,15]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1159\/000275671"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.2174\/138920211794520132"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1007\/s00125-007-0798-6"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1159\/000025324"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1016\/j.cell.2008.04.012"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.24.3.187"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.10232"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-010-0837-0"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1111\/j.1399-0004.2012.01860.x"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/sj.onc.1205627"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990521)84:2<116::AID-AJMG6>3.0.CO;2-3"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1001\/jama.296.8.943"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.5.343"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1161\/01.RES.87.5.385"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/346473","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/346473","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:46:32Z","timestamp":1745433992000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000346473"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2013]]},"references-count":14,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2013,3,1]]},"published-print":{"date-parts":[[2013,3,14]]}},"URL":"https:\/\/doi.org\/10.1159\/000346473","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2013]]}}}