{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,4,30]],"date-time":"2026-04-30T04:23:32Z","timestamp":1777523012871,"version":"3.51.4"},"reference-count":32,"publisher":"SAGE Publications","issue":"1","license":[{"start":{"date-parts":[[2018,4,13]],"date-time":"2018-04-13T00:00:00Z","timestamp":1523577600000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/journals.sagepub.com\/page\/policies\/text-and-data-mining-license"}],"funder":[{"name":"Pontificia Universidad Javeriana, Bogot\u00e1, DC.","award":["ID PPTA 00004318, ID PRY 004071"],"award-info":[{"award-number":["ID PPTA 00004318, ID PRY 004071"]}]}],"content-domain":{"domain":["journals.sagepub.com"],"crossmark-restriction":true},"short-container-title":["The Cleft Palate Craniofacial Journal"],"published-print":{"date-parts":[[2019,1]]},"abstract":"<jats:p>The objective of this work was to identify 22q11.2 chromosomal deletion in patients with cleft lip and\/or cleft palate and suggestive syndromic phenotype in Colombian patients. We studied 49 patients with cleft lip and\/or cleft palate, exhibiting additional clinical findings linked to 22q11.2 deletion syndrome. All patients underwent high-resolution G-banded karyotyping, multiplex ligation-dependent probe amplification, and clinical evaluation by a geneticist. Seven patients presented 22q11.2 deletion and 2 patients had other chromosomal abnormalities. In conclusion, this study contributes with new data for genetic etiology in syndromic conditions of oral fissures.<\/jats:p>","DOI":"10.1177\/1055665618770307","type":"journal-article","created":{"date-parts":[[2018,4,13]],"date-time":"2018-04-13T12:41:51Z","timestamp":1523623311000},"page":"116-122","update-policy":"https:\/\/doi.org\/10.1177\/sage-journals-update-policy","source":"Crossref","is-referenced-by-count":5,"title":["22q11.2 Deletion Syndrome in Colombian Patients With Syndromic Cleft Lip and\/or Palate"],"prefix":"10.1177","volume":"56","author":[{"given":"Suleima","family":"Carpeta","sequence":"first","affiliation":[{"name":"Instituto de Gen\u00e9tica Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogot\u00e1, DC, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Tatiana","family":"Pineda","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogot\u00e1, DC, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Maria Claudia","family":"Mart\u00ednez","sequence":"additional","affiliation":[{"name":"Departamento del Sistema Craneofacial, Posgrado de Ortodoncia, Facultad de Odontolog\u00eda, Pontificia Universidad Javeriana, Bogot\u00e1, DC, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gloria","family":"Osorio","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogot\u00e1, DC, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Gloria Liliana","family":"Porras-Hurtado","sequence":"additional","affiliation":[{"name":"Cl\u00ednica Comfamiliar, Risaralda, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Jorge","family":"Rojas","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogot\u00e1, DC, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Ignacio","family":"Zarante","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogot\u00e1, DC, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]},{"given":"Olga Mar\u00eda","family":"Moreno-Ni\u00f1o","sequence":"additional","affiliation":[{"name":"Instituto de Gen\u00e9tica Humana, Facultad de Medicina, Pontificia Universidad Javeriana, Bogot\u00e1, DC, Colombia"}],"role":[{"role":"author","vocabulary":"crossref"}]}],"member":"179","published-online":{"date-parts":[[2018,4,13]]},"reference":[{"issue":"3","key":"bibr2-1055665618770307","first-page":"223","volume":"3","author":"Barber JC","year":"2010","journal-title":"Mol Cytogenet"},{"key":"bibr3-1055665618770307","doi-asserted-by":"publisher","DOI":"10.1016\/j.jpeds.2011.02.039"},{"key":"bibr4-1055665618770307","doi-asserted-by":"publisher","DOI":"10.1016\/j.bjps.2007.06.018"},{"key":"bibr5-1055665618770307","doi-asserted-by":"publisher","DOI":"10.17796\/jcpd.27.4.k7j3628944237392"},{"key":"bibr6-1055665618770307","doi-asserted-by":"publisher","DOI":"10.1155\/2012\/782821"},{"key":"bibr7-1055665618770307","doi-asserted-by":"publisher","DOI":"10.1597\/05-070.1"},{"key":"bibr8-1055665618770307","doi-asserted-by":"publisher","DOI":"10.1002\/ajmg.a.32256"},{"key":"bibr9-1055665618770307","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2011.06.013"},{"key":"bibr10-1055665618770307","doi-asserted-by":"publisher","DOI":"10.1136\/adc.79.4.348"},{"key":"bibr11-1055665618770307","doi-asserted-by":"publisher","DOI":"10.4103\/0973-029X.92976"},{"key":"bibr12-1055665618770307","doi-asserted-by":"publisher","DOI":"10.1016\/j.ijporl.2012.08.010"},{"key":"bibr13-1055665618770307","doi-asserted-by":"publisher","DOI":"10.1038\/35098574"},{"key":"bibr14-1055665618770307","doi-asserted-by":"publisher","DOI":"10.1038\/ejhg.2008.214"},{"key":"bibr15-1055665618770307","doi-asserted-by":"publisher","DOI":"10.1007\/s00431-013-1964-0"},{"key":"bibr16-1055665618770307","doi-asserted-by":"publisher","DOI":"10.1016\/S0140-6736(09)60695-4"},{"key":"bibr17-1055665618770307","doi-asserted-by":"publisher","DOI":"10.1159\/000337464"},{"key":"bibr18-1055665618770307","doi-asserted-by":"publisher","DOI":"10.1097\/MD.0b013e3182060469"},{"key":"bibr19-1055665618770307","unstructured":"McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. 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