{"id":1999,"date":"2017-07-24T14:07:34","date_gmt":"2017-07-24T18:07:34","guid":{"rendered":"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/?page_id=1999"},"modified":"2018-03-15T09:08:26","modified_gmt":"2018-03-15T12:08:26","slug":"sindrome-velocardiofacial-delecion-22q11-2","status":"publish","type":"page","link":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/sindrome-velocardiofacial-delecion-22q11-2\/","title":{"rendered":"S\u00edndrome de deleci\u00f3n 22q11.2"},"content":{"rendered":"<h5><a href=\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/Sindrome-velocardiofacial.jpg\" rel=\"attachment wp-att-2000\"><img loading=\"lazy\" decoding=\"async\" class=\"size-medium wp-image-2000 aligncenter\" src=\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/Sindrome-velocardiofacial-300x175.jpg\" alt=\"Sindrome velocardiofacial\" width=\"300\" height=\"175\" srcset=\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/Sindrome-velocardiofacial-300x175.jpg 300w, https:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/Sindrome-velocardiofacial.jpg 590w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><strong>DESCRIPCI\u00d3N<\/strong><\/h5>\n<p style=\"text-align: justify;\"><span style=\"font-weight: 400;\">El s\u00edndrome de microdeleci\u00f3n de la regi\u00f3n cromos\u00f3mica 22q11.2 (22q11DS), o s\u00edndrome velocardiofacial es una de las alteraciones gen\u00f3micas m\u00e1s comunes en humanos. Se estima que tiene una frecuencia poblacional de 1 en 4000. La mayor\u00eda de los pacientes tiene una p\u00e9rdida heterocigota de 3Mb en 22q11.2. Las manifestaciones m\u00e1s comunes son cardiopat\u00edas cong\u00e9nitas, fisura del paladar blando, retraso del desarrollo psicomotor, discapacidad cognitiva, generalmente en el rango leve, y alto riesgo de psicosis (25%).<\/span><\/p>\n<p><span style=\"font-weight: 400;\">Las l\u00edneas de investigaci\u00f3n en el CGG incluyen:<\/span><\/p>\n<ul>\n<li><span style=\"font-weight: 400;\">Caracterizaci\u00f3n fenotipica detallada, para mejorar el conocimiento sobre la historia natural de la enfermedad, orientar en la supervisi\u00f3n de salud de las familias desarrollar intervenciones personalizadas<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Identificaci\u00f3n de factores ambientales y gen\u00e9ticos que modifiquen las manifestaciones cl\u00ednicas del s\u00edndrome, con especial \u00e9nfasis en las cardiopat\u00edas cong\u00e9nitas y la psicosis, utilizando herramientas genomicas como SNP\/CNV arrays y secuenciaci\u00f3n ex\u00f3mica<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Estudiar manifestaciones emergentes del sindrome, como alteraciones del movimiento y enfermedad de Parkinson en adultos<\/span><\/li>\n<\/ul>\n<h5><strong>EQUIPO<\/strong><\/h5>\n<p>[persona id=\u00bb893&#8243; align=\u00bbalignleft\u00bb]\u00a0[persona id=\u00bb1824&#8243; align=\u00bbalignleft\u00bb]\u00a0[persona id=\u00bb2027&#8243; align=\u00bbalignleft\u00bb]<\/p>\n<h5><strong>COLABORADORES<\/strong><\/h5>\n<ul>\n<li><span style=\"font-weight: 400;\">Facultad de Medicina, Universidad de Chile<\/span>\n<ul>\n<li><span style=\"font-weight: 400;\">Dra. Rosemarie Fritsch<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Psic. Claudia Ornstein<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Dr. Adrian Ocampo<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Dra. Patricia Alvarez<\/span><\/li>\n<\/ul>\n<\/li>\n<li><span style=\"font-weight: 400;\">Hospital Calvo Mackenna y Fundaci\u00f3n Gantz<\/span>\n<ul>\n<li><span style=\"font-weight: 400;\">Fonoaud. Mirta Palomares y Psic Macarena Miranda<\/span><\/li>\n<\/ul>\n<\/li>\n<li><span style=\"font-weight: 400;\">Centro de Trastornos del Movimiento (CETRAM)<\/span>\n<ul>\n<li><span style=\"font-weight: 400;\">Dr Pedro Chan\u00e1<\/span><\/li>\n<\/ul>\n<\/li>\n<li><span style=\"font-weight: 400;\">P. Universidad Catolica de Chile<\/span>\n<ul>\n<li><span style=\"font-weight: 400;\">Dres. Nicol\u00e1s Crossley y Carlos Juri<\/span><\/li>\n<\/ul>\n<\/li>\n<li><span style=\"font-weight: 400;\">Fundaci\u00f3n para el Ni\u00f1o con Sindrome Velocardiofacial<\/span>\n<ul>\n<li><span style=\"font-weight: 400;\">Sra. Patricia Jesam<\/span><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<h5><strong>COLABORADORES INTERNACIONALES<\/strong><\/h5>\n<ul>\n<li><span style=\"font-weight: 400;\">Donna McDonald-McGinn, CGC, MSc, Children\u00b4s Hospital of Philadelphia<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Bernice Morrow, PhD, Albert Einstein College of Medicine, NY<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Anne Bassett, MD, University of Toronto<\/span><\/li>\n<li><span style=\"font-weight: 400;\">International 22q11.2 Brain and Behavior Consortium on 22q11 deletion (http:\/\/www.22q11-ibbc.org\/)<\/span><\/li>\n<\/ul>\n<h5><strong>FINANCIAMIENTO<\/strong><\/h5>\n<ul>\n<li><span style=\"font-weight: 400;\">Fondecyt, Concurso Regular, Chile<\/span><\/li>\n<li><span style=\"font-weight: 400;\">NIH, EEUU<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Canada-Latin America and the Caribbean Research Exchange Grants, Canada<\/span><\/li>\n<\/ul>\n<h5><strong>PUBLICACIONES<\/strong><\/h5>\n<ol>\n<li><span style=\"font-weight: 400;\">Leon LE, Benavides F, Espinoza K, Vial C, Alvarez P, Palomares M, Lay-Son G, Miranda M, Repetto GM. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/28496102\">Partial microduplication in the histone acetyltransferase complex member KANSL1 is associated with congenital heart defects in 22q11.2 microdeletion syndrome patients.<\/a> DS. Scientific Reports (2017) Scientific Reports | 7: 1795 | DOI:10.1038\/s41598-017-01896-w<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Butcher NJ, Marras C, Pondal M, Rusjan P, Boot E, Christopher L, Repetto GM, Fritsch R, Chow EWC, Maselli M, Strafella AP, Lang AE, Bassett AS. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Neuroimaging+and+clinical+features+in+adults+with+a+22q11.2+deletion+at+risk+of+Parkinson%E2%80%99s+disease\">Neuroimaging and clinical features in adults with a 22q11.2 deletion at risk of Parkinson\u2019s disease<\/a>. Brain (2017)\u00a0<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Johnston HR, Chopra P, Wingo TS Patel V; International Consortium on Brain and Behavior in 22q11.2 Deletion Syndrome, Epstein MP, Mulle JG, Warren ST, Zwick ME, Cutler DJ. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=International+Consortium+on+Brain+and+Behavior+in+22q11.2+Deletion+Syndrome%2C+Epstein+MP%2C+Mulle+JG%2C+Warren+ST%2C+Zwick+ME%2C+Cutler+DJ.+PEMapper+and+PECaller+provide+a+simplified+approach+to+whole-genome+sequencing\">PEMapper and PECaller provide a simplified approach to whole-genome sequencing<\/a>.Proc Natl Acad Sci U S A. 2017 Feb 21. pii: 201618065. doi: 10.1073\/pnas.1618065114.<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Ysunza A, Repetto G, Pamplona C, Kenneth Shaheen MC, Chaiyasate K, Rontal M Calderon J. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Current+Controversies+in+Diagnosis+and+Management+of+Cleft+Palate+and+Velopharyngeal+Insufficiency\">Current Controversies in Diagnosis and Management of Cleft Palate and Velopharyngeal Insufficiency<\/a>. \u00a0BioMed Res Internat (formerly J \u00a0Biomed Biotechnol) \u00a0(2015) <\/span><a href=\"http:\/\/dx.doi.org\/10.1155\/2015\/196240\"><span style=\"font-weight: 400;\">http:\/\/dx.doi.org\/10.1155\/2015\/196240<\/span><\/a><\/li>\n<li><span style=\"font-weight: 400;\"> \u00a0<\/span><span style=\"font-weight: 400;\">Eyheramendy S, Martinez FI, Manevy F, Vial C, Repetto GM. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Genetic+structure+characterization+of+Chileans+reflects+historical+immigration+patterns\">Genetic structure characterization of Chileans reflects historical immigration patterns<\/a>. Nature Communications 2015 6, Article number: 6472 doi:10.1038\/ncomms7472<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Fung LAF, Butcher NJ, Costain G, Andrade DM, Boot E, Chow EWC, Chung B, Cytrynbaum \u00a0C, Faghfoury \u00a0H, Fishman L, Garc\u00eda-Mi\u00f1a\u00far S, George S, Lang AE, Repetto G, \u00a0A Shugar \u00a0Silversides C, Swillen A, \u00a0van Amelsvoort \u00a0T, McDonald-McGinn D, Bassett AS. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Practical+guidelines+for+managing+adults+with+22q11.2+deletion+syndrome\">\u00a0Practical guidelines for managing adults with 22q11.2 deletion syndrome<\/a>. Genet Med. 2015 Aug; 17(8): 599\u2013609. \u00a0<\/span><\/li>\n<li><span style=\"font-weight: 400;\"> Repetto GM, Guzman ML, Delgado I, Loyola H, Palomares M, Lay-Son G, Vial C, Benavides F, Espinoza K, Alvarez P <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/25377008\">Case fatality rate and associated factors in 22q11 microdeletion syndrome patients. A retrospective cohort study<\/a>. BMJ Open \u00a02014 5041Nov 6;4(11):e005041. doi: 10.1136\/bmjopen-2014-005041.<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Lay-Son G, Palomares P, Guzman ML, Puga A, Vasquez M, Repetto GM. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/22939891\">Palate abnormalities in Chilean patients with chromosome 22q11 microdeletion syndrome<\/a>. Int J Pediatr Otorhinolaryngol. 2012 Dec;76(12):1726-8<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Guzman ML, Delgado I, Lay-Son G, Willans E, Puga A. Repetto GM. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Growth+in+Chilean+Infants+with+Chromosome+22q11+Microdeletion+Syndrome\">Growth in Chilean Infants with Chromosome 22q11 Microdeletion Syndrome<\/a>. Am J Med Genet Part A 2012 Nov;158 A \u00a0(11):2682-6<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Justiniano JA, Guzm\u00e1n ML, \u00a0Astete CP, Aravena T, Arriaza M, Aracena M, Repetto MG. <a href=\"http:\/\/www.scielo.cl\/scielo.php?script=sci_arttext&amp;pid=S0370-41062012000100005\">Alta prevalencia de hernias abdominales en pacientes con \u00a0S\u00edndrome Velocardiofacial<\/a>. \u00a0Rev Chil Pediatr 2012; 83(1):42-47.<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Calderon JF, Puga AR, Guzman ML, Astete CP, Arriaza M, Aracena M, Aravena T, Sanz P, Repetto GM. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=VEGFA+polymorphisms+and+cardiovascular+anomalies+in+22q11+microdeletion+syndrome%3A++a+case-control+and+family-based+study\">VEGFA polymorphisms and cardiovascular anomalies in 22q11 microdeletion syndrome: \u00a0a case-control and family-based study<\/a>. \u00a0Biol Res 2009; 42(4):461-8.<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Aglony M, Lizama M, M\u00e9ndez C, Navarrete C, Garay F, Repetto G, P\u00e9rez R, Carri\u00f3n F, Talesnik E. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Manifestaciones+cl%C3%ADnicas+y+variabilidad+inmunol%C3%B3gica+en+9+pacientes+con+s%C3%ADndrome+de+DiGeorge\">Manifestaciones cl\u00ednicas y variabilidad inmunol\u00f3gica en 9 pacientes con s\u00edndrome de DiGeorge<\/a>. Rev Med Chil 2004; 132:26-32.<\/span><\/li>\n<li><span style=\"font-weight: 400;\">Mu\u00f1oz S, Garay F, Flores I, Heusser F, Talesnik E, Aracena M, \u00a0Mellado C, M\u00e9ndez C, Arnaiz P, Repetto G. <a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pubmed\/?term=Heterogeneidad+de+la+presentaci%C3%B3n+cl%C3%ADnicas+del+s%C3%ADndrome+de+microdeleci%C3%B3n+del+cromosoma+22%2C+regi%C3%B3n+q11\">Heterogeneidad de la presentaci\u00f3n cl\u00ednicas del s\u00edndrome de microdeleci\u00f3n del cromosoma 22, regi\u00f3n q11<\/a>. Rev Med Chil. 2001 May;129(5):515-21<\/span><\/li>\n<\/ol>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>DESCRIPCI\u00d3N El s\u00edndrome de microdeleci\u00f3n de la regi\u00f3n cromos\u00f3mica 22q11.2 (22q11DS), o s\u00edndrome velocardiofacial es una de las alteraciones gen\u00f3micas m\u00e1s comunes en humanos. Se estima que tiene una frecuencia poblacional de 1 en 4000. La mayor\u00eda de los pacientes tiene una p\u00e9rdida heterocigota de 3Mb en 22q11.2. Las manifestaciones m\u00e1s comunes son cardiopat\u00edas cong\u00e9nitas, [&hellip;]<\/p>\n","protected":false},"author":42,"featured_media":0,"parent":27,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"template-wide-content.php","meta":{"footnotes":""},"class_list":["post-1999","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.9 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>S\u00edndrome de deleci\u00f3n 22q11.2 - Centro de Gen\u00e9tica y Gen\u00f3mica<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/sindrome-velocardiofacial-delecion-22q11-2\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"S\u00edndrome de deleci\u00f3n 22q11.2 - Centro de Gen\u00e9tica y Gen\u00f3mica\" \/>\n<meta property=\"og:description\" content=\"DESCRIPCI\u00d3N El s\u00edndrome de microdeleci\u00f3n de la regi\u00f3n cromos\u00f3mica 22q11.2 (22q11DS), o s\u00edndrome velocardiofacial es una de las alteraciones gen\u00f3micas m\u00e1s comunes en humanos. Se estima que tiene una frecuencia poblacional de 1 en 4000. La mayor\u00eda de los pacientes tiene una p\u00e9rdida heterocigota de 3Mb en 22q11.2. Las manifestaciones m\u00e1s comunes son cardiopat\u00edas cong\u00e9nitas, [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/sindrome-velocardiofacial-delecion-22q11-2\/\" \/>\n<meta property=\"og:site_name\" content=\"Centro de Gen\u00e9tica y Gen\u00f3mica\" \/>\n<meta property=\"article:modified_time\" content=\"2018-03-15T12:08:26+00:00\" \/>\n<meta property=\"og:image\" content=\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/Sindrome-velocardiofacial-300x175.jpg\" \/>\n<meta name=\"twitter:label1\" content=\"Tiempo de lectura\" \/>\n\t<meta name=\"twitter:data1\" content=\"4 minutos\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"WebPage\",\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/sindrome-velocardiofacial-delecion-22q11-2\/\",\"url\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/sindrome-velocardiofacial-delecion-22q11-2\/\",\"name\":\"S\u00edndrome de deleci\u00f3n 22q11.2 - Centro de Gen\u00e9tica y Gen\u00f3mica\",\"isPartOf\":{\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/#website\"},\"primaryImageOfPage\":{\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/sindrome-velocardiofacial-delecion-22q11-2\/#primaryimage\"},\"image\":{\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/sindrome-velocardiofacial-delecion-22q11-2\/#primaryimage\"},\"thumbnailUrl\":\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/Sindrome-velocardiofacial-300x175.jpg\",\"datePublished\":\"2017-07-24T18:07:34+00:00\",\"dateModified\":\"2018-03-15T12:08:26+00:00\",\"breadcrumb\":{\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/sindrome-velocardiofacial-delecion-22q11-2\/#breadcrumb\"},\"inLanguage\":\"es\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/sindrome-velocardiofacial-delecion-22q11-2\/\"]}]},{\"@type\":\"ImageObject\",\"inLanguage\":\"es\",\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/sindrome-velocardiofacial-delecion-22q11-2\/#primaryimage\",\"url\":\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/Sindrome-velocardiofacial-300x175.jpg\",\"contentUrl\":\"http:\/\/medicina.udd.cl\/centro-genetica-genomica\/files\/2017\/07\/Sindrome-velocardiofacial-300x175.jpg\"},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/sindrome-velocardiofacial-delecion-22q11-2\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Inicio\",\"item\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Investigaci\u00f3n\",\"item\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/\"},{\"@type\":\"ListItem\",\"position\":3,\"name\":\"S\u00edndrome de deleci\u00f3n 22q11.2\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/#website\",\"url\":\"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/\",\"name\":\"Centro de Gen\u00e9tica y Gen\u00f3mica\",\"description\":\"\",\"inLanguage\":\"es\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"S\u00edndrome de deleci\u00f3n 22q11.2 - Centro de Gen\u00e9tica y Gen\u00f3mica","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/medicina.udd.cl\/centro-genetica-genomica\/investigacion\/sindrome-velocardiofacial-delecion-22q11-2\/","og_locale":"es_ES","og_type":"article","og_title":"S\u00edndrome de deleci\u00f3n 22q11.2 - Centro de Gen\u00e9tica y Gen\u00f3mica","og_description":"DESCRIPCI\u00d3N El s\u00edndrome de microdeleci\u00f3n de la regi\u00f3n cromos\u00f3mica 22q11.2 (22q11DS), o s\u00edndrome velocardiofacial es una de las alteraciones gen\u00f3micas m\u00e1s comunes en humanos. Se estima que tiene una frecuencia poblacional de 1 en 4000. La mayor\u00eda de los pacientes tiene una p\u00e9rdida heterocigota de 3Mb en 22q11.2. 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