{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,4,24]],"date-time":"2025-04-24T04:32:28Z","timestamp":1745469148763,"version":"3.40.4"},"reference-count":16,"publisher":"S. Karger AG","issue":"1","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":["Cytogenet Genome Res"],"published-print":{"date-parts":[[2015]]},"abstract":"<jats:p>A patient with a rare interstitial deletion of chromosomal band 2q33.2q33.3 is described. The clinical features resembled the 2q33.1 microdeletion syndrome (Glass syndrome), including mental retardation, facial dysmorphism, high-arched narrow palate, growth deficiency, and speech delay. The chromosomal aberration was characterized by whole genome BAC aCGH. A comparison of the current patient and Glass syndrome features revealed that this case displayed a relatively mild phenotype. Overall, it is suggested that the deleted region of 2q33 causative for Glass syndrome may be larger than initially suggested.<\/jats:p>","DOI":"10.1159\/000381568","type":"journal-article","created":{"date-parts":[[2015,4,27]],"date-time":"2015-04-27T21:01:21Z","timestamp":1430168481000},"page":"19-24","source":"Crossref","is-referenced-by-count":1,"title":["Deletion of 4.4 Mb at 2q33.2q33.3 May Cause Growth Deficiency in a Patient with Mental Retardation, Facial Dysmorphic Features and Speech Delay"],"prefix":"10.1159","volume":"145","author":[{"given":"Ioannis","family":"Papoulidis","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Vassilis","family":"Paspaliaris","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elena","family":"Papageorgiou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Elissavet","family":"Siomou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Themistoklis","family":"Dagklis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Sotirios","family":"Sotiriou","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Loretta","family":"Thomaidis","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Emmanouil","family":"Manolakos","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2015,4,24]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.2010.084491"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1086\/508214"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.01.002"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2013.280"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1136\/jmg.26.2.127"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/emmm.201202078"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1016\/j.yexcr.2014.02.003"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1093\/hmg\/ddt647"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320320318"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1320370320"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.1455"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.33164"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1371\/journal.pone.0006568"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1074\/jbc.M705601200"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2009.06.003"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2005.05.005"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/381568","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/381568","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T17:55:32Z","timestamp":1745430932000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000381568"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2015]]},"references-count":16,"journal-issue":{"issue":"1","published-online":{"date-parts":[[2015,6,1]]},"published-print":{"date-parts":[[2015,6,23]]}},"URL":"https:\/\/doi.org\/10.1159\/000381568","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2015]]}}}