{"id":8737,"date":"2022-01-16T13:29:06","date_gmt":"2022-01-16T13:29:06","guid":{"rendered":"https:\/\/ring20researchsupport.co.uk\/?p=8737"},"modified":"2023-02-10T08:54:40","modified_gmt":"2023-02-10T08:54:40","slug":"unravel_phasei_slides2","status":"publish","type":"post","link":"https:\/\/ring20researchsupport.co.uk\/es\/2022\/01\/unravel_phasei_slides2\/","title":{"rendered":"Cromosomas en anillo: Pruebas de diagn\u00f3stico"},"content":{"rendered":"<div data-elementor-type=\"wp-post\" data-elementor-id=\"8737\" class=\"elementor elementor-8737\" data-elementor-post-type=\"post\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-33386ecc elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"33386ecc\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-14b76116\" data-id=\"14b76116\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-1540c48a elementor-widget elementor-widget-text-editor\" data-id=\"1540c48a\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<p>\u00bfQuiere saber c\u00f3mo se puede diagnosticar un cromosoma en anillo? En esta presentaci\u00f3n de diapositivas, explicamos las t\u00e9cnicas de prueba que se pueden usar para identificar un cromosoma en anillo. Tambi\u00e9n le presentaremos brevemente c\u00f3mo se ver\u00eda el resultado de su prueba...<\/p><p>\u00bfPor qu\u00e9 nos tomamos el tiempo para explicar esto?<\/p><ul><li><strong>Para los ya diagnosticados:<\/strong> Comprender C\u00d3MO le diagnosticaron y lo que el resultado de su prueba PUEDE y NO PUEDE decirle a usted y a su equipo m\u00e9dico sobre su r(20), nos ayuda a comenzar a explicar los desaf\u00edos para los m\u00e9dicos e investigadores sobre c\u00f3mo encontrar tratamientos efectivos.\u00a0<\/li><li><strong>Para aquellos que a\u00fan no han sido diagnosticados:<\/strong>\u00a0 Comprender que las t\u00e9cnicas de prueba m\u00e1s nuevas que se usan t\u00edpicamente para diagnosticar formas gen\u00e9ticas de epilepsia en la actualidad NO diagnosticar\u00e1n un cromosoma en anillo, ayuda a explicar por qu\u00e9 sospechamos que m\u00e1s personas permanecen sin diagnosticar o incluso mal diagnosticadas por la causa de su epilepsia y por qu\u00e9 r(20) s\u00edndrome puede no ser tan raro como se informa hoy.<\/li><\/ul><p>Explicaremos m\u00e1s sobre las nuevas t\u00e9cnicas de pruebas gen\u00e9ticas y por qu\u00e9 los m\u00e9dicos las prefieren como pruebas de primera l\u00ednea para el diagn\u00f3stico de las causas de la epilepsia en nuestra pr\u00f3xima presentaci\u00f3n de diapositivas. Tambi\u00e9n tenemos una herramienta \u00fanica que lo ayudar\u00e1 a interpretar el resultado de su prueba de cariotipo. <strong>y<\/strong> tenemos un blog para compartir sobre por qu\u00e9 es importante un diagn\u00f3stico correcto... todo muy pronto.<\/p><blockquote><p>A medida que DESENTRA\u00d1AMOS los misterios de r(20), Ring20 lo gu\u00eda en un viaje que explica por qu\u00e9 estamos trabajando con socios para tratar de hacer que r(20) sea m\u00e1s f\u00e1cil de diagnosticar y c\u00f3mo esperamos que esto ayude a identificar nuevas pistas para resolver el problema. misterios de encontrar tratamientos efectivos para el futuro.<\/p><\/blockquote><p>Esperamos que est\u00e9 disfrutando de nuestra serie educativa UNRAVEL y que encuentre \u00fatil la informaci\u00f3n. Si tiene alg\u00fan comentario para nosotros o tiene alguna pregunta, simplemente haga clic en el <strong>\u00bfTienes una pregunta?<\/strong> enlace a la derecha de su pantalla para ponerse en contacto.<\/p><p>Haga clic en el bot\u00f3n Siguiente despu\u00e9s de cada diapositiva a continuaci\u00f3n para obtener m\u00e1s informaci\u00f3n sobre las pruebas de cromosomas...<a href=\"https:\/\/ring20researchsupport.co.uk\/es\/2021\/12\/unravel_phasei_video_1\/\"><br \/><\/a><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-ab2c49e elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"ab2c49e\" data-element_type=\"section\" data-e-type=\"section\">\n\t\t\t\t\t\t<div class=\"elementor-container elementor-column-gap-default\">\n\t\t\t\t\t<div class=\"elementor-column elementor-col-100 elementor-top-column elementor-element elementor-element-104f768\" data-id=\"104f768\" data-element_type=\"column\" data-e-type=\"column\">\n\t\t\t<div class=\"elementor-widget-wrap elementor-element-populated\">\n\t\t\t\t\t\t<div class=\"elementor-element elementor-element-c19f05c elementor-widget elementor-widget-html\" data-id=\"c19f05c\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"html.default\">\n\t\t\t\t\t<iframe src=\"https:\/\/ring20researchsupport.co.uk\/slide\/cell-2\/\" frameborder=\"0\" scrolling=\"no\" onload=\"resizeIframe(this)\"><\/iframe>\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-727c358 elementor-widget elementor-widget-heading\" data-id=\"727c358\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">M\u00e1s en esta serie:<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-5064e81 elementor-icon-list--layout-traditional elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"5064e81\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"icon-list.default\">\n\t\t\t\t\t\t\t<ul class=\"elementor-icon-list-items\">\n\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/ring20researchsupport.co.uk\/es\/2022\/01\/unravel_phasei_video_3\/\">\n\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-video\" viewbox=\"0 0 576 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M336.2 64H47.8C21.4 64 0 85.4 0 111.8v288.4C0 426.6 21.4 448 47.8 448h288.4c26.4 0 47.8-21.4 47.8-47.8V111.8c0-26.4-21.4-47.8-47.8-47.8zm189.4 37.7L416 177.3v157.4l109.6 75.5c21.2 14.6 50.4-.3 50.4-25.8V127.5c0-25.4-29.1-40.4-50.4-25.8z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">4 \u00bfQu\u00e9 es un cromosoma en anillo?<\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-video\" viewbox=\"0 0 576 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M336.2 64H47.8C21.4 64 0 85.4 0 111.8v288.4C0 426.6 21.4 448 47.8 448h288.4c26.4 0 47.8-21.4 47.8-47.8V111.8c0-26.4-21.4-47.8-47.8-47.8zm189.4 37.7L416 177.3v157.4l109.6 75.5c21.2 14.6 50.4-.3 50.4-25.8V127.5c0-25.4-29.1-40.4-50.4-25.8z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">3 Maneras diferentes de diagnosticar trastornos gen\u00e9ticos<\/span>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<a href=\"https:\/\/ring20researchsupport.co.uk\/es\/2021\/12\/unravel_phasei_video_1\/\">\n\n\t\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-video\" viewbox=\"0 0 576 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M336.2 64H47.8C21.4 64 0 85.4 0 111.8v288.4C0 426.6 21.4 448 47.8 448h288.4c26.4 0 47.8-21.4 47.8-47.8V111.8c0-26.4-21.4-47.8-47.8-47.8zm189.4 37.7L416 177.3v157.4l109.6 75.5c21.2 14.6 50.4-.3 50.4-25.8V127.5c0-25.4-29.1-40.4-50.4-25.8z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">2 Diferentes tipos de trastornos gen\u00e9ticos<\/span>\n\t\t\t\t\t\t\t\t\t\t\t<\/a>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fab-slideshare\" viewbox=\"0 0 512 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M187.7 153.7c-34 0-61.7 25.7-61.7 57.7 0 31.7 27.7 57.7 61.7 57.7s61.7-26 61.7-57.7c0-32-27.7-57.7-61.7-57.7zm143.4 0c-34 0-61.7 25.7-61.7 57.7 0 31.7 27.7 57.7 61.7 57.7 34.3 0 61.7-26 61.7-57.7.1-32-27.4-57.7-61.7-57.7zm156.6 90l-6 4.3V49.7c0-27.4-20.6-49.7-46-49.7H76.6c-25.4 0-46 22.3-46 49.7V248c-2-1.4-4.3-2.9-6.3-4.3-15.1-10.6-25.1 4-16 17.7 18.3 22.6 53.1 50.3 106.3 72C58.3 525.1 252 555.7 248.9 457.5c0-.7.3-56.6.3-96.6 5.1 1.1 9.4 2.3 13.7 3.1 0 39.7.3 92.8.3 93.5-3.1 98.3 190.6 67.7 134.3-124 53.1-21.7 88-49.4 106.3-72 9.1-13.8-.9-28.3-16.1-17.8zm-30.5 19.2c-68.9 37.4-128.3 31.1-160.6 29.7-23.7-.9-32.6 9.1-33.7 24.9-10.3-7.7-18.6-15.5-20.3-17.1-5.1-5.4-13.7-8-27.1-7.7-31.7 1.1-89.7 7.4-157.4-28V72.3c0-34.9 8.9-45.7 40.6-45.7h317.7c30.3 0 40.9 12.9 40.9 45.7v190.6z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">1 <span class='tooltipsall tooltipsincontent classtoolTips0'>cromosomas<\/span>, Genes y ADN<\/span>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t<\/ul>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-63761de elementor-widget elementor-widget-heading\" data-id=\"63761de\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t\t<h3 class=\"elementor-heading-title elementor-size-default\">HASTA LA PR\u00d3XIMA<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-c0ef762 elementor-widget elementor-widget-text-editor\" data-id=\"c0ef762\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t\t\t\t\t\t<p>Explicaremos un poco m\u00e1s sobre FISH como una t\u00e9cnica de prueba \u00fatil, luego le daremos informaci\u00f3n sobre la historia del diagn\u00f3stico de r(20), tanto de la literatura m\u00e9dica como de nuestras propias experiencias de miembros.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-78ecc81 elementor-icon-list--layout-traditional elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"78ecc81\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"icon-list.default\">\n\t\t\t\t\t\t\t<ul class=\"elementor-icon-list-items\">\n\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-video\" viewbox=\"0 0 576 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M336.2 64H47.8C21.4 64 0 85.4 0 111.8v288.4C0 426.6 21.4 448 47.8 448h288.4c26.4 0 47.8-21.4 47.8-47.8V111.8c0-26.4-21.4-47.8-47.8-47.8zm189.4 37.7L416 177.3v157.4l109.6 75.5c21.2 14.6 50.4-.3 50.4-25.8V127.5c0-25.4-29.1-40.4-50.4-25.8z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">6 PECES<\/span>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-fas-video\" viewbox=\"0 0 576 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M336.2 64H47.8C21.4 64 0 85.4 0 111.8v288.4C0 426.6 21.4 448 47.8 448h288.4c26.4 0 47.8-21.4 47.8-47.8V111.8c0-26.4-21.4-47.8-47.8-47.8zm189.4 37.7L416 177.3v157.4l109.6 75.5c21.2 14.6 50.4-.3 50.4-25.8V127.5c0-25.4-29.1-40.4-50.4-25.8z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">7 Primer caso de r(20) diagnosticado en 1972<\/span>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t\t\t<li class=\"elementor-icon-list-item\">\n\t\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-icon\">\n\t\t\t\t\t\t\t<svg aria-hidden=\"true\" class=\"e-font-icon-svg e-far-image\" viewbox=\"0 0 512 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M464 64H48C21.49 64 0 85.49 0 112v288c0 26.51 21.49 48 48 48h416c26.51 0 48-21.49 48-48V112c0-26.51-21.49-48-48-48zm-6 336H54a6 6 0 0 1-6-6V118a6 6 0 0 1 6-6h404a6 6 0 0 1 6 6v276a6 6 0 0 1-6 6zM128 152c-22.091 0-40 17.909-40 40s17.909 40 40 40 40-17.909 40-40-17.909-40-40-40zM96 352h320v-80l-87.515-87.515c-4.686-4.686-12.284-4.686-16.971 0L192 304l-39.515-39.515c-4.686-4.686-12.284-4.686-16.971 0L96 304v48z\"><\/path><\/svg>\t\t\t\t\t\t<\/span>\n\t\t\t\t\t\t\t\t\t\t<span class=\"elementor-icon-list-text\">8 Evoluci\u00f3n del diagn\u00f3stico r(20)<\/span>\n\t\t\t\t\t\t\t\t\t<\/li>\n\t\t\t\t\t\t<\/ul>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/section>\n\t\t\t\t<\/div>\n\t\t<script type=\"text\/javascript\"> toolTips('.classtoolTips0','Chromosomes are long string-like structures that store all of our DNA. Each cell in the human body usually has 23 pairs of chromosomes (or 46 chromosomes in total).'); <\/script>","protected":false},"excerpt":{"rendered":"<p>\u00bfQuiere saber c\u00f3mo se puede diagnosticar un cromosoma en anillo? En esta presentaci\u00f3n de diapositivas, explicamos las t\u00e9cnicas de prueba que se pueden usar para identificar un cromosoma en anillo. Tambi\u00e9n le presentaremos brevemente c\u00f3mo se ver\u00eda el resultado de su prueba...<\/p>","protected":false},"author":3,"featured_media":8907,"comment_status":"closed","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"site-sidebar-layout":"default","site-content-layout":"default","ast-site-content-layout":"default","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":"","ast-disable-related-posts":"","theme-transparent-header-meta":"default","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":"","background-image":"","background-repeat":"repeat","background-position":"center center","background-size":"auto","background-attachment":"scroll","background-type":"","background-media":"","overlay-type":"","overlay-color":"","overlay-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","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-opacity":"","overlay-gradient":""}},"footnotes":""},"categories":[107,110],"tags":[],"class_list":["post-8737","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetics","category-slideshow"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Ring Chromosomes: Diagnostic Testing - Ring20 Research and Support UK CIO<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/ring20researchsupport.co.uk\/es\/2022\/01\/unravel_phasei_slides2\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Ring Chromosomes: Diagnostic Testing - Ring20 Research and Support UK CIO\" \/>\n<meta property=\"og:description\" content=\"Want to know how a ring chromosome can be diagnosed? In this slideshow we explain the testing techniques that can be used to identify a ring chromosome. 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