{"id":73365,"date":"2018-03-09T23:18:15","date_gmt":"2018-03-09T23:18:15","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/caracterizacion-de-anomala%c2%adas-cromosomicas-en-diagnostico-prenatal-y-postnatal-mediante-tecnicas-de-citogeneticas-molecular\/"},"modified":"2018-03-09T23:18:15","modified_gmt":"2018-03-09T23:18:15","slug":"caracterizacion-de-anomala%c2%adas-cromosomicas-en-diagnostico-prenatal-y-postnatal-mediante-tecnicas-de-citogeneticas-molecular","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/caracterizacion-de-anomala%c2%adas-cromosomicas-en-diagnostico-prenatal-y-postnatal-mediante-tecnicas-de-citogeneticas-molecular\/","title":{"rendered":"Caracterizaci\u00f3n de anomal\u00edas cromos\u00f3micas en diagn\u00f3stico prenatal y postnatal mediante t\u00e9cnicas de citogen\u00e9ticas molecular"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Cristina Hernando Davalillo <\/strong><\/h2>\n<p>Las malformaciones cong\u00e9nitas presentan una etiolog\u00eda muy variada. En la mayor\u00eda de los casos, son el resultado de un conjunto de alteraciones gen\u00e9ticas detectadas por la presencia de anomal\u00edas cromos\u00f3micas num\u00e9ricas o estructurales. las consecuencias cl\u00ednicas que se derivan, dependen tanto del tama\u00f1o del segmento cromos\u00f3mico implicado, como del n\u00famero y funci\u00f3n de los genes presentes en dicho fragmento.  la aparici\u00f3n de nuevas t\u00e9cnicas de citogen\u00e9tica molecular ha permitido identificar anomal\u00edas que con las t\u00e9cnicas de bandas convencionales (bandas g) pasaban desapercibidas o no pod\u00edan llegar a ser caracterizadas, tanto en el caso de peque\u00f1as alteraciones gen\u00e9ticas desequilibradas (microdeleciones y microduplicaciones) como equilibradas (translocaciones complejas y\/o cr\u00edpticas).  la presente tesis, se ha basado en la caracterizaci\u00f3n de diversas anomal\u00edas cromos\u00f3micas, en diagn\u00f3stico prenatal y postnatal, mediante la aplicaci\u00f3n de t\u00e9cnicas de citogen\u00e9tica convencional y citogen\u00e9tica molecular: hibridaci\u00f3n in situ fluoresecente (fish) e hibridaci\u00f3n gen\u00f3mica comparada (cgh). Con ello, se ha conseguido profundizar en el papel que desarrollan estas alteraciones en la etiolog\u00eda de determinadas malformaciones cong\u00e9nitas y otros fenotipos an\u00f3malos contribuyendo a ofrecer un consejo gen\u00e9tico mucho m\u00e1s precioso.<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Caracterizaci\u00f3n de anomal\u00edas cromos\u00f3micas en diagn\u00f3stico prenatal y postnatal mediante t\u00e9cnicas de citogen\u00e9ticas molecular<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Caracterizaci\u00f3n de anomal\u00edas cromos\u00f3micas en diagn\u00f3stico prenatal y postnatal mediante t\u00e9cnicas de citogen\u00e9ticas molecular <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Cristina Hernando Davalillo <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 31\/03\/2005<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n<h3>Direcci\u00f3n y tribunal<\/h3>\n<ul>\n<li><strong>Director de la tesis<\/strong>\n<ul>\n<li>Carme Fuster Marques<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: rosa Miro ametller <\/li>\n<li>nuria Clusellas casals (vocal)<\/li>\n<li>Juan Parra roca (vocal)<\/li>\n<li>roser Pujol calvet (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Cristina Hernando Davalillo Las malformaciones cong\u00e9nitas presentan una etiolog\u00eda muy variada. En la mayor\u00eda de los casos, [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"","ast-site-content-layout":"","site-content-style":"default","site-sidebar-style":"default","ast-global-header-display":"","ast-banner-title-visibility":"","ast-main-header-display":"","ast-hfb-above-header-display":"","ast-hfb-below-header-display":"","ast-hfb-mobile-header-display":"","site-post-title":"","ast-breadcrumbs-content":"","ast-featured-img":"","footer-sml-layout":"","theme-transparent-header-meta":"","adv-header-id-meta":"","stick-header-meta":"","header-above-stick-meta":"","header-main-stick-meta":"","header-below-stick-meta":"","astra-migrate-meta-layouts":"default","ast-page-background-enabled":"default","ast-page-background-meta":{"desktop":{"background-color":"var(--ast-global-color-4)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"ast-content-background-meta":{"desktop":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"tablet":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""},"mobile":{"background-color":"var(--ast-global-color-5)","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-gradient":""}},"footnotes":""},"categories":[849,212,35,9224,2820],"tags":[159292,159291,159294,159293,19735,29396],"class_list":["post-73365","post","type-post","status-publish","format-standard","hentry","category-biologia-celular","category-biologia-humana","category-ciencias-de-la-vida","category-citogenetica","category-genetica-humana","tag-carme-fuster-marques","tag-cristina-hernando-davalillo","tag-juan-parra-roca","tag-nuria-clusellas-casals","tag-rosa-miro-ametller","tag-roser-pujol-calvet"],"_links":{"self":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/73365","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/comments?post=73365"}],"version-history":[{"count":0,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/posts\/73365\/revisions"}],"wp:attachment":[{"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/media?parent=73365"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/categories?post=73365"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.deberes.net\/tesis\/wp-json\/wp\/v2\/tags?post=73365"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}