{"status":"ok","message-type":"work","message-version":"1.0.0","message":{"indexed":{"date-parts":[[2026,8,20]],"date-time":"2026-08-20T14:32:55Z","timestamp":1787236375541,"version":"build-2736575974"},"reference-count":23,"publisher":"Elsevier BV","issue":"4","license":[{"start":{"date-parts":[[2008,10,1]],"date-time":"2008-10-01T00:00:00Z","timestamp":1222819200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/tdm\/userlicense\/1.0\/"},{"start":{"date-parts":[[2008,10,1]],"date-time":"2008-10-01T00:00:00Z","timestamp":1222819200000},"content-version":"tdm","delay-in-days":0,"URL":"https:\/\/www.elsevier.com\/legal\/tdmrep-license"},{"start":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T00:00:00Z","timestamp":1787097600000},"content-version":"vor","delay-in-days":6531,"URL":"http:\/\/creativecommons.org\/licenses\/by-nc-nd\/4.0\/"}],"content-domain":{"domain":["clinicalkey.es","elsevier.es","elsevier.com","sciencedirect.com"],"crossmark-restriction":true},"short-container-title":["Anales de Pediatr\u00eda"],"published-print":{"date-parts":[[2008,10]]},"DOI":"10.1157\/13126553","type":"journal-article","created":{"date-parts":[[2008,10,23]],"date-time":"2008-10-23T02:25:05Z","timestamp":1224728705000},"page":"304-310","update-policy":"https:\/\/doi.org\/10.1016\/elsevier_cm_policy","source":"Crossref","is-referenced-by-count":2,"title":["Revisi\u00f3n de 22 casos de deleci\u00f3n 22q11.2: espectro fenot\u00edpico"],"prefix":"10.1016","volume":"69","author":[{"given":"M.J.","family":"Ballesta Mart\u00ednez","sequence":"first","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"E.","family":"Guill\u00e9n Navarro","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"I.","family":"L\u00f3pez Exp\u00f3sito","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.A.","family":"Bafalliu Vidal","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"R.","family":"Domingo Jim\u00e9nez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"J.M.","family":"Gu\u00eda Torrent","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"F.","family":"Robles S\u00e1nchez","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]},{"given":"M.","family":"S\u00e1nchez Sol\u00eds de Querol","sequence":"additional","affiliation":[],"role":[{"vocabulary":"crossref","role":"author"}]}],"member":"78","reference":[{"key":"10.1157\/13126553_bb0005","doi-asserted-by":"crossref","first-page":"101","DOI":"10.1542\/peds.112.1.101","article-title":"A population based study of the 22q11.2 deletion: Phenotype, incidence, and contribution to major birth defects in the population","volume":"112","author":"Botto","year":"2003","journal-title":"Pediatrics"},{"key":"10.1157\/13126553_bb0010","series-title":"22q11.2 deletion syndrome. GeneReviews","author":"McDonald-McGinn","year":"2005"},{"key":"10.1157\/13126553_bb0015","unstructured":"OMIM #188400 DiGeorge syndrome. Disponible en: www.ncbi.nlm.nih.gov\/entrez\/dispomim.cgi?cmd=entry&id=188400"},{"key":"10.1157\/13126553_bb0020","first-page":"341","article-title":"CATCH-22: implicaciones actuales de la microdeleci\u00f3n en 22q11.2","volume":"45","author":"Del Campo Casanelles","year":"1996","journal-title":"An Esp Pediatr"},{"key":"10.1157\/13126553_bb0025","doi-asserted-by":"crossref","first-page":"852","DOI":"10.1136\/jmg.30.10.852","article-title":"DiGeorge syndrome: Part of CATCH 22","volume":"30","author":"Wilson","year":"1993","journal-title":"J Med Genet"},{"key":"10.1157\/13126553_bb0030","doi-asserted-by":"crossref","first-page":"308","DOI":"10.1002\/ajmg.1320450306","article-title":"Confirmation that the velo-cardio-facial syndrome is associated with happlo-insufficiency of genes at chromosome 22q11","volume":"45","author":"Kelly","year":"1993","journal-title":"Am J Med Genet"},{"key":"10.1157\/13126553_bb0035","doi-asserted-by":"crossref","first-page":"822","DOI":"10.1136\/jmg.30.10.822","article-title":"Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11","volume":"3","author":"Burn","year":"1993","journal-title":"J Med Genet"},{"key":"10.1157\/13126553_bb0040","doi-asserted-by":"crossref","first-page":"1076","DOI":"10.1086\/302343","article-title":"Low-Copy Repeats mediate the common 3-Mb deletion in patients with Velo-cardio-facial syndrome","volume":"64","author":"Edelmann","year":"1999","journal-title":"Am J Hum Genet"},{"key":"10.1157\/13126553_bb0045","doi-asserted-by":"crossref","first-page":"1157","DOI":"10.1093\/hmg\/8.7.1157","article-title":"A common molecular basis for rearrangement disorders on chromosome 22q11","volume":"8","author":"Edelman","year":"1999","journal-title":"Hum Molec Genet"},{"key":"10.1157\/13126553_bb0050","doi-asserted-by":"crossref","first-page":"146","DOI":"10.1007\/s00431-004-1577-8","article-title":"Presenting phenotype in 100 children with the 22q11 deletion syndrome","volume":"164","author":"\u00d3skarsd\u00f3ttir","year":"2005","journal-title":"Eur J Pediatr"},{"key":"10.1157\/13126553_bb0055","doi-asserted-by":"crossref","first-page":"307","DOI":"10.1002\/ajmg.a.30984","article-title":"Clinical features of 78 adults with 22q11.2 deletion syndrome","volume":"138A","author":"Bassett","year":"2005","journal-title":"Am J Med Genet"},{"key":"10.1157\/13126553_bb0060","doi-asserted-by":"crossref","first-page":"90","DOI":"10.1016\/j.jpeds.2005.03.007","article-title":"Defining the clinical spectrum of the deletion 22q11.2","volume":"17","author":"Robin","year":"2005","journal-title":"J Pediatr"},{"key":"10.1157\/13126553_bb0065","doi-asserted-by":"crossref","first-page":"753","DOI":"10.1017\/S0954579405050364","article-title":"A multilevel analysis of cognitive dysfunction and psychopathology associated with chromosome 22q11.2 deletion syndrome in children","volume":"17","author":"Simon","year":"2005","journal-title":"Dev Psychopathol"},{"key":"10.1157\/13126553_bb0070","doi-asserted-by":"crossref","first-page":"1500","DOI":"10.1038\/nn1572","article-title":"COMT genotype predicts longitudinal cognitive decline and psychosis in 22q11.2 deletion syndrome","volume":"8","author":"Gothelf","year":"2005","journal-title":"Nat Neurosci"},{"key":"10.1157\/13126553_bb0075","doi-asserted-by":"crossref","first-page":"425","DOI":"10.1016\/S0001-6519(06)78741-6","article-title":"Rinolalia abierta, un s\u00edntoma caracter\u00edstico del s\u00edndrome velocardiofacial","volume":"57","author":"Morales Angulo","year":"2006","journal-title":"Acta Otorrinolaringol Esp"},{"key":"10.1157\/13126553_bb0080","doi-asserted-by":"crossref","first-page":"422","DOI":"10.1136\/adc.86.6.422","article-title":"Antibody deficiency and autoimmunity in 22q11.2 deletion syndrome","volume":"86","author":"Gennery","year":"2002","journal-title":"Arch Dis Child"},{"key":"10.1157\/13126553_bb0085","first-page":"182","article-title":"Early development of immunity in diGeorge syndrome","volume":"11","author":"Sediva","year":"2005","journal-title":"Med Sci Monit"},{"key":"10.1157\/13126553_bb0090","doi-asserted-by":"crossref","first-page":"323","DOI":"10.1046\/j.1365-2249.2003.02134.x","article-title":"Visad T-call receptor repertoires in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome\/velocardiofacial syndrome)","volume":"132","author":"Pierdominici","year":"2003","journal-title":"Clin Exp Immunol"},{"key":"10.1157\/13126553_bb0095","doi-asserted-by":"crossref","first-page":"715","DOI":"10.1067\/mpd.2001.118534","article-title":"Immunologic features of chromosome 22q11.2 deletion syndrome (DiGeorge syndrome\/velocardiofacial syndrome)","volume":"139","author":"Jawad","year":"2001","journal-title":"J Pediatr"},{"key":"10.1157\/13126553_bb0100","doi-asserted-by":"crossref","first-page":"325","DOI":"10.1542\/peds.112.4.e325","article-title":"Safety of viral vaccines in patients with chromosome 22q11.2 deletion syndrome (DiGeorge syndrome\/velocardiofacial syndrome)","volume":"112","author":"P\u00e9rez","year":"2003","journal-title":"Pediatrics"},{"key":"10.1157\/13126553_bb0105","doi-asserted-by":"crossref","first-page":"29","DOI":"10.1002\/ajmg.a.30133","article-title":"Increased prevalence of unprovoked seizures in patients with a 22q11.2 deletion","volume":"129A","author":"Kao","year":"2004","journal-title":"Am J Med Genet"},{"key":"10.1157\/13126553_bb0110","doi-asserted-by":"crossref","first-page":"628","DOI":"10.1157\/13107404","article-title":"S\u00edndrome de DiGeorge asociado a hemimelia","volume":"66","author":"Vera","year":"2007","journal-title":"An Pediatr (Barc)"},{"key":"10.1157\/13126553_bb0115","first-page":"275","article-title":"Malformaci\u00f3n en mano y pie hendido en una mima familia con monosom\u00eda 22q11 y 17p13.3","volume":"63","author":"Gener","year":"2005","journal-title":"An Pediatr (Barc)"}],"container-title":["Anales de Pediatr\u00eda"],"original-title":[],"language":"es","link":[{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1695403308723579?httpAccept=text\/xml","content-type":"text\/xml","content-version":"vor","intended-application":"text-mining"},{"URL":"https:\/\/api.elsevier.com\/content\/article\/PII:S1695403308723579?httpAccept=text\/plain","content-type":"text\/plain","content-version":"vor","intended-application":"text-mining"}],"deposited":{"date-parts":[[2026,8,19]],"date-time":"2026-08-19T02:27:15Z","timestamp":1787106435000},"score":1,"resource":{"primary":{"URL":"https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S1695403308723579"}},"subtitle":[],"short-title":[],"issued":{"date-parts":[[2008,10]]},"references-count":23,"journal-issue":{"issue":"4","published-print":{"date-parts":[[2008,10]]}},"alternative-id":["S1695403308723579"],"URL":"https:\/\/doi.org\/10.1157\/13126553","relation":{},"ISSN":["1695-4033"],"issn-type":[{"value":"1695-4033","type":"print"}],"subject":[],"published":{"date-parts":[[2008,10]]},"assertion":[{"value":"Elsevier","name":"publisher","label":"This article is maintained by"},{"value":"Revisi\u00f3n de 22 casos de deleci\u00f3n 22q11.2: espectro fenot\u00edpico","name":"articletitle","label":"Article Title"},{"value":"Anales de Pediatr\u00eda","name":"journaltitle","label":"Journal Title"},{"value":"https:\/\/doi.org\/10.1157\/13126553","name":"articlelink","label":"CrossRef DOI link to publisher maintained version"},{"value":"article","name":"content_type","label":"Content Type"},{"value":"Copyright \u00a9 2008 Asociaci\u00f3n Espa\u00f1ola de Pediatr\u00eda. Published by Elsevier Espa\u00f1a, S.L. All rights reserved.","name":"copyright","label":"Copyright"}]}}