{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2025,10,22]],"date-time":"2025-10-22T02:58:57Z","timestamp":1761101937210,"version":"3.40.4"},"reference-count":16,"publisher":"S. Karger AG","issue":"2","license":[{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"content-version":"vor","delay-in-days":0,"URL":"https:\/\/www.karger.com\/Services\/SiteLicenses"},{"start":{"date-parts":[[2011,1,1]],"date-time":"2011-01-01T00:00:00Z","timestamp":1293840000000},"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":[[2011]]},"abstract":"<i>Background:<\/i> Microdeletion of the Van der Woude syndrome (VWS) critical region is a relatively rare event, and only a few cases have been reported in the medical literature. The extent of the deletion and the genotype-phenotype correlation are 2 crucial issues. <i>Methods and Results:<\/i> During analysis of the VWS critical region in 95 families with an isolated cleft of the lip with or without cleft palate, we found a de novo interstitial deletion of 1q32.2\u2013q32.3 in a patient with cleft lip and other dysmorphic features. The present case showed new proximal and distal end breakpoints compared to those previously reported. The results of a short tandem repeat analysis was confirmed using high resolution array-based comparative genomic hybridization and showed an interstitial deletion of approximately 2.98 Mb which involved 25 genes, including the entire <i>IRF6<\/i> gene. Direct sequencing of the non-deleted allele of the <i>IRF6<\/i> gene did not show any mutation, which supports a haploinsufficiency mechanism of the <i>IRF6<\/i> gene in the development of the oral cleft. <i>Conclusion:<\/i> The present report adds to the collective knowledge that oral cleft is a major clinical feature of the 1q32.2\u2013q32.3 deletion.<\/jats:p>","DOI":"10.1159\/000325541","type":"journal-article","created":{"date-parts":[[2011,5,5]],"date-time":"2011-05-05T07:04:13Z","timestamp":1304579053000},"page":"83-87","source":"Crossref","is-referenced-by-count":9,"title":["De Novo Interstitial Deletion of 1q32.2\u2013q32.3 Including the Entire <i>IRF6<\/i> Gene in a Patient with Oral Cleft and Other Dysmorphic Features"],"prefix":"10.1159","volume":"134","author":[{"given":"I.","family":"Salahshourifar","sequence":"first","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"A.S.","family":"Halim","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"W.A.W.","family":"Sulaiman","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"R.","family":"Ariffin","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"N.","family":"Naili Muhamad Nor","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"B.A.","family":"Zilfalil","sequence":"additional","affiliation":[],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"127","published-online":{"date-parts":[[2011,3,25]]},"reference":[{"key":"ref1","doi-asserted-by":"publisher","DOI":"10.1002%2Fajmg.1320260223"},{"key":"ref2","doi-asserted-by":"publisher","DOI":"10.1074%2Fjbc.M803901200"},{"key":"ref3","doi-asserted-by":"publisher","DOI":"10.1101%2Fgad.1185804"},{"key":"ref4","doi-asserted-by":"publisher","DOI":"10.1038%2F383407a0"},{"key":"ref5","doi-asserted-by":"publisher","DOI":"10.1097%2FGIM.0b013e318197a49a"},{"key":"ref6","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.27.5.320"},{"key":"ref7","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2820000313%2991%3A2%3C161%3A%3AAID-AJMG18%3E3.0.CO%3B2-Q"},{"key":"ref8","doi-asserted-by":"publisher","DOI":"10.1016%2Fj.gde.2005.03.003"},{"key":"ref9","doi-asserted-by":"publisher","DOI":"10.1007%2Fs10038-003-0089-0"},{"key":"ref10","doi-asserted-by":"publisher","DOI":"10.1038%2Fng985"},{"key":"ref11","doi-asserted-by":"publisher","DOI":"10.1034%2Fj.1399-0004.2002.610402.x"},{"key":"ref12","doi-asserted-by":"publisher","DOI":"10.1136%2Fjmg.2007.052191"},{"key":"ref13","doi-asserted-by":"publisher","DOI":"10.1016%2F0007-1226%2881%2990090-4"},{"key":"ref14","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F6.11.1847"},{"key":"ref15","doi-asserted-by":"publisher","DOI":"10.1093%2Fhmg%2F3.4.575"},{"key":"ref16","doi-asserted-by":"publisher","DOI":"10.1002%2F%28SICI%291096-8628%2819990521%2984%3A2%3C145%3A%3AAID-AJMG11%3E3.0.CO%3B2-L"}],"container-title":["Cytogenetic and Genome Research"],"original-title":[],"language":"en","link":[{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/325541","content-type":"application\/pdf","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/www.karger.com\/Article\/Pdf\/325541","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,4,23]],"date-time":"2025-04-23T18:54:16Z","timestamp":1745434456000},"score":1,"resource":{"primary":{"URL":"https:\/\/karger.com\/article\/doi\/10.1159\/000325541"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2011]]},"references-count":16,"journal-issue":{"issue":"2","published-online":{"date-parts":[[2011,5,1]]},"published-print":{"date-parts":[[2011,5,9]]}},"URL":"https:\/\/doi.org\/10.1159\/000325541","archive":["Portico"],"relation":{},"ISSN":["1424-8581","1424-859X"],"issn-type":[{"type":"print","value":"1424-8581"},{"type":"electronic","value":"1424-859X"}],"subject":[],"published":{"date-parts":[[2011]]}}}