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Karger AG","issue":"5","license":[{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2015,1,1]],"date-time":"2015-01-01T00:00:00Z","timestamp":1420070400000},"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":[[2015]]},"abstract":"<jats:p>A novel 19.98-Mb duplication in chromosome Xp22.33p22.12 was detected by array CGH in a 30-year-old man affected by intellectual disability, congenital hypotonia and dysmorphic features. The duplication encompasses more than 100 known genes. Many of these genes (such as neuroligin 4, cyclin-dependent kinase like 5, and others) have already correlated with X-linked intellectual disability and\/or neurodevelopmental disorders. Due to the high number of potentially pathogenic genes involved in the reported duplication, we cannot correlate the clinical phenotype to a single gene. Indeed, we suggest that the resulting clinical phenotype may have arisen from the overexpression and consequent perturbation of fine gene dosage.<\/jats:p>","DOI":"10.1159\/000443232","type":"journal-article","created":{"date-parts":[[2016,1,11]],"date-time":"2016-01-11T22:01:17Z","timestamp":1452549677000},"page":"236-241","source":"Crossref","is-referenced-by-count":12,"title":["Xp22.33p22.12 Duplication in a Patient with Intellectual Disability and Dysmorphic Facial Features"],"prefix":"10.1159","volume":"6","author":[{"given":"Carla","family":"Lintas","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Chiara","family":"Picinelli","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ignazio S.","family":"Piras","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Roberto","family":"Sacco","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Stefano","family":"Gabriele","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Magda","family":"Verdecchia","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Antonio M.","family":"Persico","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2016,1,12]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gks1094"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1038\/jhg.2010.74"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.nbd.2010.11.010"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1093\/nar\/gkt958"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19990903)86:1<44::AID-AJMG8>3.3.CO;2-Q"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1073\/pnas.90.24.12025"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1038\/mp.2010.54"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1534\/g3.112.004689"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(12)61480-9"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038\/nrg1501"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35538"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/bdra.23118"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/(SICI)1096-8628(19961202)66:1<113::AID-AJMG29>3.3.CO;2-3"}],"container-title":["Molecular Syndromology"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/443232","content-type":"unspecified","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/443232","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/443232","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:35:56Z","timestamp":1745429756000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000443232"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":13,"journal-issue":{"issue":"5","published-online":{"date-parts":[[2016,2,1]]},"published-print":{"date-parts":[[2016,2,2]]}},"URL":"https:\/\/doi.org\/10.1159\/000443232","archive":["Portico"],"relation":{},"ISSN":["1661-8769","1661-8777"],"issn-type":[{"value":"1661-8769","type":"print"},{"value":"1661-8777","type":"electronic"}],"subject":[],"published":{"date-parts":[[2015]]}}}