{"id":74256,"date":"2005-01-06T00:00:00","date_gmt":"2005-01-06T00:00:00","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/ana-lisi-citogena%c2%a8tica-preimplantacional-alteracions-cromosa%c2%b2miques-numa%c2%a8riques-i-estructurals\/"},"modified":"2005-01-06T00:00:00","modified_gmt":"2005-01-06T00:00:00","slug":"ana-lisi-citogena%c2%a8tica-preimplantacional-alteracions-cromosa%c2%b2miques-numa%c2%a8riques-i-estructurals","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/ciencias-de-la-vida\/ana-lisi-citogena%c2%a8tica-preimplantacional-alteracions-cromosa%c2%b2miques-numa%c2%a8riques-i-estructurals\/","title":{"rendered":"An\u00c1\u00a0lisi citogen\u00e9tica preimplantacional: alteracions cromos\u00f3miques num\u00e9riques i estructurals"},"content":{"rendered":"<h2>Tesis doctoral de <strong> A\u00c1\u00afda Pujol Masana <\/strong><\/h2>\n<p>El an\u00e1lisis citogen\u00e9tica del primer corp\u00fasculo polar (1cp) permite una caracterizaci\u00f3n indirecta del ovocitos en metafase ii (mii) sin comprometer su capacidad reproductiva. Esto permite, dentro de un programa de fecundaci\u00f3n in vitro (fiv), desarrollar una variante del diagn\u00f3stico gen\u00e9tico preimplantacional en la que se analiza el 1cp (dgp-1cp).  el objetivo general de este trabajo es estudiar la incidencia de aneuploid\u00eda en la l\u00ednea germinal femenina y los primeros estadios del desarrollo embrionario.  se han utilizado ovocitos descartados de ciclos de fiv para desarrollar una metodolog\u00eda de hibridaci\u00f3n in situ fluorescente (fish) que permite detectar nueve cromosomas en 1cps y en mii. Hasta ahora, las ausencias de cromosoma s y crom\u00e1tides en 1cp se consideraban artefactos pero la valoraci\u00f3n de la complementariedad 1cp-mii realizada constata que solamente lo son una minor\u00eda (25,8%).  tanto la frecuencia de aneuploid\u00eda obtenida para los nueve cromosomas estudiados (47,5%) como el riesgo estimado de aneuploid\u00eda para los 23 cromosomas (57,2%) son muy elevados. El riesgo estimado de segregaci\u00f3n an\u00f3mala por cromosoma analizado es del 0,89%.  se han identificado diferentes mecanismos de generaci\u00f3n de aneuploid\u00edas en el ovocito: separaci\u00f3n precoz de crom\u00e1tides hermanas (observada con m\u00e1s frecuencia en el 1cp que en la mii) y no-disyunci\u00f3n de cromosomas hom\u00f3logos en la meiosis y segregaci\u00f3n an\u00f3mala en la mitosis de la etapa proliferativa de la l\u00ednea germinal (mosaicismo gonadal). Este fen\u00f3meno se ha detectado en el 25,7% de las pacientes analizadas y hace recomendable el diagn\u00f3stico prenatal a las pacientes que queden gestantes despu\u00e9s de un dgp-1cp.  aplicando dgp-1cp en mujeres con cariotipo normal (mujeres de edad avanzada), la incidencia de aneuplod\u00eda para los nueve cromosoma ha sido del 60,4%, corroborando que este grupo es un grupo de riesgo para la presencia de aneuploid\u00edas. Aplic\u00e1ndolo a dos paciente<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>An\u00c1\u00a0lisi citogen\u00e9tica preimplantacional: alteracions cromos\u00f3miques num\u00e9riques i estructurals<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 An\u00c1\u00a0lisi citogen\u00e9tica preimplantacional: alteracions cromos\u00f3miques num\u00e9riques i estructurals <\/li>\n<li><strong>Autor:<\/strong>\u00a0 A\u00c1\u00afda Pujol Masana <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 01\/06\/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>Joaquima Navarro Ferret\u00e9<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: montserrat Garcia cald\u00e9s <\/li>\n<li>montserrat Boada pala (vocal)<\/li>\n<li> Vanrell d\u00edaz joan antoni (vocal)<\/li>\n<li>mark Grossmann camps (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de A\u00c1\u00afda Pujol Masana El an\u00e1lisis citogen\u00e9tica del primer corp\u00fasculo polar (1cp) permite una caracterizaci\u00f3n indirecta del ovocitos [&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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