{"id":88302,"date":"2018-03-10T00:13:17","date_gmt":"2018-03-10T00:13:17","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/estudio-citogenetico-molecular-del-sa%c2%adndrome-de-down\/"},"modified":"2018-03-10T00:13:17","modified_gmt":"2018-03-10T00:13:17","slug":"estudio-citogenetico-molecular-del-sa%c2%adndrome-de-down","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-medicas\/estudio-citogenetico-molecular-del-sa%c2%adndrome-de-down\/","title":{"rendered":"Estudio citogen\u00e9tico-molecular del s\u00edndrome de down"},"content":{"rendered":"<h2>Tesis doctoral de <strong> Margarita Nadal S\u00e1nchez <\/strong><\/h2>\n<p>Los casos de s\u00edndrome de down debido a trisom\u00eda parcial del cromosoma 21, se dan con una frecuencia muy baja. No por su rareza sino por su partiularidad citogen\u00e9tica, estos casos aportan una informaci\u00f3n muy valiosa para el establecimiento de correlaciones entre el genotipo y el fenotipo. Estudiando el alcance citogen\u00e9tico de cada trisom\u00eda parcial y las caracter\u00edsticas cl\u00ednicas de la persona, se puede determinar qu\u00e9 regiones del cormosoma 21, cuando se encuentran  en trisom\u00eda, son responsables de una determinada cracter\u00edstica cl\u00ednica. Mediante el estudio detallado de estos casos y estableciendo comparaciones entre ellos, se ha llegado a la construci\u00f3n de un mapa fenot\u00edpico que asigna a las diferentes regiones del cromosoma 21, los diferentes rasgos cl\u00ednicos del s\u00edndrome de down. El mapa fenot\u00edpico definitivo se completar\u00e1 cuando se conozcan todos los genes del cromosoma 21 y sus respectivas funciones, de tal forma que se pueda asociar la triple dosis de cada gen con cada una de las cracter\u00edsticas cl\u00ednicas que se encuentran en el s\u00edndrome. En este trabajo se recoge el estudio citogen\u00e9tico-molecular (mediante la t\u00e9cnica de hibridaci\u00f3n in situ de fluorescencia o fish) y cl\u00ednico de seis casos de s\u00edndrome de down debidos a trosom\u00eda parcial del cromosoma 21 para contribuir a la construcci\u00f3n del mapa fenot\u00edpico y han permitido, adem\u00e1s, ofrecer consejo gen\u00e9tico a las familias. Este estudio ha conllevado la preparaci\u00f3n de un contiguo de sondas de tipo yac del brazo largo del cromosoma 21. \u00e9stas se han estudiado para su quimerismo y en caso de ser positivas, se han descartado para el estudio. La fish se ha aplicado tambi\u00e9n para el mapeo de genes aislados en el laboratorio del cromosoma 21 as\u00ed como para el mapeo  de la insercci\u00f3n de transfenes de dicho cromosoma en dos modelos murinos. finalmente, se describe la aplicaci\u00f3n de la fish en improntas de tejido para genotipar los ratones tris\u00f3micos parciales ts65dn, qu<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Estudio citogen\u00e9tico-molecular del s\u00edndrome de down<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Estudio citogen\u00e9tico-molecular del s\u00edndrome de down <\/li>\n<li><strong>Autor:<\/strong>\u00a0 Margarita Nadal S\u00e1nchez <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 22\/12\/2000<\/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>Xavier Estivill Pallej?<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: jos\u00e9 Egozcue cuixart <\/li>\n<li>cristina Fillat (vocal)<\/li>\n<li>daniel Grinberg vaisman (vocal)<\/li>\n<li>Jes\u00fas L\u00f3pez (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de Margarita Nadal S\u00e1nchez Los casos de s\u00edndrome de down debido a trisom\u00eda parcial del cromosoma 21, se [&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 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