{"id":72916,"date":"2018-03-09T23:17:47","date_gmt":"2018-03-09T23:17:47","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/diagnostico-citogenetico-y-molecular-de-los-sa%c2%adndromes-de-prader-willi-y-angelman\/"},"modified":"2018-03-09T23:17:47","modified_gmt":"2018-03-09T23:17:47","slug":"diagnostico-citogenetico-y-molecular-de-los-sa%c2%adndromes-de-prader-willi-y-angelman","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/diagnostico-citogenetico-y-molecular-de-los-sa%c2%adndromes-de-prader-willi-y-angelman\/","title":{"rendered":"Diagn\u00f3stico citogen\u00e9tico y molecular de los s\u00edndromes de prader- willi y angelman"},"content":{"rendered":"<h2>Tesis doctoral de <strong> David Poyatos Andujar <\/strong><\/h2>\n<p>Los s\u00edndromes de prader-willi (spw) y de angelman (sa) son dos s\u00edndromes de desarrollo y conducta que ocurren con una frecuencia 1\/15.000-20.000 reci\u00e9n nacidos.  resultan de la p\u00e9rdida f\u00edsica o funcional de genes regulados por la impronta dentro de la regi\u00f3n 15q11-q13. Spw est\u00e1 asociado con la p\u00e9rdida de expresi\u00f3n de alelos paternos, mientras que el sa est\u00e1 asociado con la p\u00e9rdida de expresi\u00f3n de alelo materno. Aproximadamente el 70% de los pacientes spw presentan deleci\u00f3n en el cromosoma paterno, el 20-30% disom\u00eda uniparental materno y el 1% defecto de impronta. En los pacientes sa el 70% presentan deleci\u00f3n en el cromosoma materno, el 6% disom\u00eda uniparental paterna, el 2-7% defecto de impronta, el 4-10% mutaci\u00f3n del gen ube3a y en el 10-12% la etiolog\u00eda es desconocida.  el diagn\u00f3stico citogen\u00e9tico molecular de estos s\u00edndromes se realiza normalmente usando la combianci\u00f3n de varias t\u00e9cnicas debido a que la base gen\u00e9tica es compleja. Nuestro laboratorio en 1991 inici\u00f3 los estudios de citogen\u00e9tica, en 1993 los estudios de fish, en 1994 el an\u00e1lisis de microsat\u00e9lites y en 1996 el an\u00e1lisis de metilaci\u00f3n. De nuestra experiencia proponemos un algoritmo de diagn\u00f3stico molecular.  se han analizado entre los a\u00f1os 1991-2000, 151 pacientes y seis l\u00edquidos amni\u00f3ticos con sospecha de spw y 147 pacientes y dos l\u00edquidos amni\u00f3ticos con sospecha de sa procedentes del territorio espa\u00f1ol. Las t\u00e9cnicas empleadas han sido el estudio del cariotipo mediante bandas g, la hibridaci\u00f3n in situ fluorescente, el an\u00e1lisis de microsat\u00e9lites y el an\u00e1lisis de metilaci\u00f3n con detecci\u00f3n quimioluminiscente.  el diagn\u00f3stico de spw se ha confirmado en 40 pacientes, 28 causado por delecci\u00f3n cinco por disom\u00eda uniparental, dos por defecto de impronta y en cinco no se ha determinado la etiolog\u00eda. El sa se ha confirmado en 47 pacientes, 39 por delecci\u00f3n, cuatro por disom\u00eda uniparental y en cuatro no se ha determinado la etiolog\u00eda<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Diagn\u00f3stico citogen\u00e9tico y molecular de los s\u00edndromes de prader- willi y angelman<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Diagn\u00f3stico citogen\u00e9tico y molecular de los s\u00edndromes de prader- willi y angelman <\/li>\n<li><strong>Autor:<\/strong>\u00a0 David Poyatos Andujar <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 25\/02\/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>Mar\u00eda  Dolors Coll Sandiumenge<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: Mar\u00eda  rosa Caball\u00edn fern\u00e1ndez <\/li>\n<li>Francisco Martinez castellano (vocal)<\/li>\n<li>ramon Nosas cuervo (vocal)<\/li>\n<li>aurora S\u00e1nchez d\u00edaz (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de David Poyatos Andujar Los s\u00edndromes de prader-willi (spw) y de angelman (sa) son dos s\u00edndromes de desarrollo [&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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