{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,18]],"date-time":"2026-08-18T15:51:17Z","timestamp":1787068277850,"version":"build-2736575974"},"reference-count":14,"publisher":"S. Karger AG","issue":"3","license":[{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2019,1,1]],"date-time":"2019-01-01T00:00:00Z","timestamp":1546300800000},"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":[[2019]]},"abstract":"<jats:p>1q44 deletion is a rare syndrome associated with facial dysmorphism and developmental delay, in particular related with expressive speech, seizures, and hypotonia (ORPHA:238769). Until today, the distinct genetic causes for the different symptoms remain not entirely clear. We present a patient with a 2.3-Mb 1q44 deletion, including &lt;i&gt;AKT3&lt;\/i&gt;, &lt;i&gt;ZBTB18,&lt;\/i&gt; and &lt;i&gt;HNRNPU&lt;\/i&gt;, who shows microcephaly, developmental delay, abnormal corpus callosum, and seizures. The genetic findings in this case and a review of the literature spotlight a region between 243 Mb and 245 Mb on chromosome 1q related to the genesis of the typical symptoms of 1q44 deletion.<\/jats:p>","DOI":"10.1159\/000504424","type":"journal-article","created":{"date-parts":[[2019,12,12]],"date-time":"2019-12-12T17:00:31Z","timestamp":1576170031000},"page":"126-129","source":"Crossref","is-referenced-by-count":9,"title":["A New Case with Corpus Callosum Abnormalities, Microcephaly and Seizures Associated with a 2.3-Mb 1q43-q44 Deletion"],"prefix":"10.1159","volume":"159","author":[{"given":"Elisabet","family":"Lloveras","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Anna","family":"Canellas","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Laura","family":"Barranco","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Claudia","family":"Alves","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Vila-Real","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Vania","family":"Ventura","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Daniel","family":"Fern\u00e1ndez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Begona","family":"Mendez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Meritxell","family":"Piqu\u00e9","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Margarida","family":"Reis-Lima","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"de la Iglesia","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Nuria","family":"Palau","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marta","family":"Costa","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Diana","family":"Yeste","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Marc","family":"Auge","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Cristina","family":"Perez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"127","published-online":{"date-parts":[[2019,12,13]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1007\/s00439-011-1073-y"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1086\/519999"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2010.04.001"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1128\/MCB.25.5.1869-1878.2005"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36710"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.36198"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.31776"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2011.171"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1159\/000279261"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35779"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.38139"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1016\/j.ejmg.2012.08.005"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.35423"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1016\/j.gene.2017.03.025"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/504424","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/504424","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T12:10:42Z","timestamp":1745410242000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000504424"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019]]},"references-count":14,"journal-issue":{"issue":"3","published-online":{"date-parts":[[2020,1,13]]},"published-print":{"date-parts":[[2020,1,21]]}},"URL":"https:\/\/doi.org\/10.1159\/000504424","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"value":"1424-8581","type":"print"},{"value":"1424-859X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019]]}}}