{"id":88254,"date":"2018-03-10T00:13:12","date_gmt":"2018-03-10T00:13:12","guid":{"rendered":"https:\/\/www.deberes.net\/tesis\/sin-categoria\/origen-de-la-no-disyun-cion-del-cromosoma-21-en-una-poblacion-con-elevada-prevalencia-del-sindrome-de-down\/"},"modified":"2018-03-10T00:13:12","modified_gmt":"2018-03-10T00:13:12","slug":"origen-de-la-no-disyun-cion-del-cromosoma-21-en-una-poblacion-con-elevada-prevalencia-del-sindrome-de-down","status":"publish","type":"post","link":"https:\/\/www.deberes.net\/tesis\/quimica\/origen-de-la-no-disyun-cion-del-cromosoma-21-en-una-poblacion-con-elevada-prevalencia-del-sindrome-de-down\/","title":{"rendered":"Origen de la no disyun ci\u00f3n del cromosoma 21 en una poblacion con elevada preValencia del sindrome de down."},"content":{"rendered":"<h2>Tesis doctoral de <strong> David Gomez Herranz <\/strong><\/h2>\n<p>En este trabajo se ha llevado a cabo un estudio molecular sobre el origen del cromosoma 21 extra en familias con un hijo o interrupci\u00f3n voluntaria del embarazo(ive) afecto de sd en la comarca del valles (barcelona), que presentaba una alta preValencia de sd entre 1991 y 1996(23,1\/10000).  resultados y discusi\u00f3n:  -se ha observado un exceso de varones entre los individuos sd estudiados (66,6% ni\u00f1os,33,3% ni\u00f1as; sex ratio=2,0). Este efecto se ha descrito en diversos estudios.  -el porcentaje de mosaicismo parental para la trisom\u00eda 21, valorado mediante la tecnica de fish, es del 2,7%, siendo similar al descrito en otras series estudiadas mediante citogen\u00e9tica convencional.  -se ha detectado mosaicismo para la trisom\u00eda 21 en dos individuos afectados de sd(nos 4 y 14). En el caso n\u00c2\u00ba 4 el porcentaje de celulas trisomicas en sangre perif\u00e9rica ha descendido r\u00e1pida y notablemente, detectandose un 80% en un estudio citogenetico al nacer, y un 7,7% mediante fish 2,5 a\u00f1os m\u00e1s tarde.  -el an\u00e1lisis de micosat\u00e9lites en el cromosoma 21 ha sido muy util para determinar el origen parental y estadio de nos disyuci\u00f3n, obteni\u00e9ndose resultado en 36 de los 38 casos analizados(94,7%). Los dos casos sin resultado corresponden a los dos casos con mosaicismo para la trisom\u00eda 21.  -la distribuci\u00f3n de errores de no disyunci\u00f3n en los casos estudiados ha sido de 88,8% errores maternos (90,6% en mi, 6,2% en mii y 3,1% mosaicismo materno), 5,6% paternos(50% en mi,50% en mii) y 5,6 % mit\u00f3ticos. No se han observado diferencias estad\u00edsticamente significativas entre estos resultados y los observados en otros estudios poblaciones y no poblaciones.  -se ha detectado una reducci\u00f3n de la recombinaci\u00f3n entre los cromosomas 21 implicados en la no disyunci\u00f3n en los casos con error en mi materna, observ\u00e1ndose un mapa de recombinaci\u00f3n de 32,68 cm. Este mapa representa aproximadamente la mitad del mapa femenino normal, pero es similar a los descritos<\/p>\n<p>&nbsp;<\/p>\n<h3>Datos acad\u00e9micos de la tesis doctoral \u00ab<strong>Origen de la no disyun ci\u00f3n del cromosoma 21 en una poblacion con elevada preValencia del sindrome de down.<\/strong>\u00ab<\/h3>\n<ul>\n<li><strong>T\u00edtulo de la tesis:<\/strong>\u00a0 Origen de la no disyun ci\u00f3n del cromosoma 21 en una poblacion con elevada preValencia del sindrome de down. <\/li>\n<li><strong>Autor:<\/strong>\u00a0 David Gomez Herranz <\/li>\n<li><strong>Universidad:<\/strong>\u00a0 Aut\u00f3noma de barcelona<\/li>\n<li><strong>Fecha de lectura de la tesis:<\/strong>\u00a0 21\/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>Miriam Guitart Feliubadal\u00f3<\/li>\n<\/ul>\n<\/li>\n<li><strong>Tribunal<\/strong>\n<ul>\n<li>Presidente del tribunal: jos\u00e9 Egozcue cuixart <\/li>\n<li>Ana Carri\u00f3 yba\u00f1ez (vocal)<\/li>\n<li>joaquim Salvador peral (vocal)<\/li>\n<li>roser Gonzalez duarte (vocal)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Tesis doctoral de David Gomez Herranz En este trabajo se ha llevado a cabo un estudio molecular sobre el origen [&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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