{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,10,25]],"date-time":"2026-10-25T00:52:37Z","timestamp":1792889557451,"version":"4.5.0"},"reference-count":0,"publisher":"Necmettin Erbakan University Press","issue":"01","funder":[{"name":"Vicerrector\u00eda de Investigaci\u00f3n y Extensi\u00f3n de la Universidad Pedag\u00f3gica y Tecnol\u00f3gica de Colombia, Tunja-Colombia","award":["SGI 2320"],"award-info":[{"award-number":["SGI 2320"]}]},{"name":"Vicerrector\u00eda de Investigaci\u00f3n y Extensi\u00f3n de la Universidad Pedag\u00f3gica y Tecnol\u00f3gica de Colombia, Tunja-Colombia","award":["SGI 2425"],"award-info":[{"award-number":["SGI 2425"]}]},{"name":"Young Researcher Scholarship from Universidad Pedag\u00f3gica y Tecnol\u00f3gica de Colombia, Tunja-Colombia"}],"content-domain":{"domain":[],"crossmark-restriction":false},"short-container-title":["J Pediatr Genet"],"published-print":{"date-parts":[[2020,3]]},"abstract":"<jats:title>Abstract<\/jats:title><jats:p>The 22q11.2 deletion syndrome (22q11.2DS) is present in approximately 5 to 8% of patients with cleft lip, palate, or both (CL\/P) and 75 to 80% of patients with congenital heart disease (CHD). In a literature review, we consider this association of 22q11.2DS in pediatric patients with CL\/P and CHD. Early diagnosis of 22q11.2DS in pediatric patients with CL\/P and CHD helps to optimize a multidisciplinary treatment approach for 22q11DS. Early diagnosis, thereby, can improve quality of life for these patients and awareness of other potential clinical implications that may require attention throughout the patient's life.<\/jats:p>","DOI":"10.1055\/s-0039-1698804","type":"journal-article","created":{"date-parts":[[2019,10,23]],"date-time":"2019-10-23T19:02:42Z","timestamp":1571857362000},"page":"001-008","source":"Crossref","is-referenced-by-count":11,"title":["The 22q11.2 Microdeletion in Pediatric Patients with Cleft Lip, Palate, or Both and Congenital Heart Disease: A Systematic Review"],"prefix":"10.53391","volume":"09","author":[{"ORCID":"https:\/\/orcid.org\/0000-0001-6207-0619","authenticated-orcid":false,"given":"Diana","family":"C\u00e1rdenas-Nieto","sequence":"additional","affiliation":[{"name":"Programa de Maestr\u00eda en Ciencias Biol\u00f3gicas, Grupo de investigaci\u00f3n en Ciencias Biom\u00e9dicas (GICBUPTC), Universidad Pedag\u00f3gica y Tecnol\u00f3gica de Colombia, Tunja, Colombia"},{"name":"Escuela de Ciencias Biol\u00f3gicas, Grupo de investigaci\u00f3n en Ciencias Biom\u00e9dicas (GICBUPTC), Universidad Pedag\u00f3gica y Tecnol\u00f3gica de Colombia, Tunja, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0002-5205-8891","authenticated-orcid":false,"given":"Maribel","family":"Forero-Castro","sequence":"additional","affiliation":[{"name":"Escuela de Ciencias Biol\u00f3gicas, Grupo de investigaci\u00f3n en Ciencias Biom\u00e9dicas (GICBUPTC), Universidad Pedag\u00f3gica y Tecnol\u00f3gica de Colombia, Tunja, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"Clara","family":"Esteban-P\u00e9rez","sequence":"additional","affiliation":[{"name":"Escuela de Ciencias Biol\u00f3gicas, Grupo de investigaci\u00f3n en Ciencias Biom\u00e9dicas (GICBUPTC), Universidad Pedag\u00f3gica y Tecnol\u00f3gica de Colombia, Tunja, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0003-0704-472X","authenticated-orcid":false,"given":"Julio","family":"Mart\u00ednez-Lozano","sequence":"additional","affiliation":[{"name":"Facultad de Medicina, Grupo de investigaci\u00f3n en Gen\u00e9tica Humana, Universidad de La Sabana, Ch\u00eda, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]},{"ORCID":"https:\/\/orcid.org\/0000-0001-7300-6401","authenticated-orcid":false,"given":"Ignacio","family":"Brice\u00f1o-Balc\u00e1zar","sequence":"additional","affiliation":[{"name":"Facultad de Medicina, Grupo de investigaci\u00f3n en Gen\u00e9tica Humana, Universidad de La Sabana, Ch\u00eda, Colombia"}],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"31409","published-online":{"date-parts":[[2019,10,23]]},"container-title":["Journal of Pediatric Genetics"],"original-title":[],"language":"en","link":[{"URL":"http:\/\/www.thieme-connect.de\/products\/ejournals\/pdf\/10.1055\/s-0039-1698804.pdf","content-type":"unspecified","content-version":"vor","intended-application":"similarity-checking"}],"deposited":{"date-parts":[[2025,9,17]],"date-time":"2025-09-17T19:45:40Z","timestamp":1758138340000},"score":1,"resource":{"primary":{"URL":"http:\/\/www.thieme-connect.de\/DOI\/DOI?10.1055\/s-0039-1698804"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2019,10,23]]},"references-count":0,"journal-issue":{"issue":"01","published-online":{"date-parts":[[2020,1,22]]},"published-print":{"date-parts":[[2020,3]]}},"URL":"https:\/\/doi.org\/10.1055\/s-0039-1698804","relation":{},"ISSN":["2146-4596","2146-460X"],"issn-type":[{"value":"2146-4596","type":"print"},{"value":"2146-460X","type":"electronic"}],"subject":[],"published":{"date-parts":[[2019,10,23]]}}}