{"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\/it\/2022\/01\/unravel_phasei_slides2\/","title":{"rendered":"Cromosomi ad anello: test diagnostici"},"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>Vuoi sapere come pu\u00f2 essere diagnosticato un cromosoma ad anello? In questa presentazione spieghiamo le tecniche di test che possono essere utilizzate per identificare un cromosoma ad anello. Ti presenteremo anche brevemente come potrebbe essere il risultato del tuo test...<\/p><p>Perch\u00e9 ci prendiamo il tempo per spiegare questo?<\/p><ul><li><strong>Per quelli gi\u00e0 diagnosticati:<\/strong> capire COME ti \u00e8 stata diagnosticata e quale risultato del tuo test PU\u00d2 e NON PU\u00d2 dire a te e al tuo team medico della tua r(20), ci aiuta a iniziare a spiegare le sfide per medici e ricercatori su come trovare trattamenti efficaci.\u00a0<\/li><li><strong>Per chi non \u00e8 ancora diagnosticato:<\/strong>\u00a0 capire che le tecniche di test pi\u00f9 recenti che vengono generalmente utilizzate per diagnosticare forme genetiche di epilessia oggi NON diagnosticano un cromosoma ad anello, aiuta a spiegare perch\u00e9 sospettiamo che pi\u00f9 persone rimangano non diagnosticate o addirittura diagnosticate erroneamente per la causa della loro epilessia e perch\u00e9 r(20) la sindrome potrebbe non essere cos\u00ec rara come viene riportato oggi.<\/li><\/ul><p>Spiegheremo di pi\u00f9 sulle nuove tecniche di test genetici e sul perch\u00e9 sono preferite dai medici come test di prima linea per la diagnosi delle cause dell&#039;epilessia nella nostra prossima presentazione. Abbiamo anche uno strumento unico che ti aiuter\u00e0 a interpretare il risultato del tuo test del cariotipo <strong>e<\/strong> abbiamo un blog da condividere sul perch\u00e9 la diagnosi corretta \u00e8 importante... tutto in arrivo.<\/p><blockquote><p>Mentre Sveliamo i misteri di r(20), Ring20 ti sta guidando in un viaggio spiegando perch\u00e9 stiamo lavorando con i partner per cercare di rendere pi\u00f9 facile la diagnosi di r(20) e come speriamo che questo aiuti a identificare nuovi indizi per risolvere il misteri di trovare trattamenti efficaci per il futuro.<\/p><\/blockquote><p>Ci auguriamo che la nostra serie educativa UNRAVEL ti stia divertendo e che le informazioni siano utili. Se hai un feedback per noi o hai domande, fai semplicemente clic su <strong>Hai una domanda?<\/strong> link a destra dello schermo per metterti in contatto.<\/p><p>Fare clic sul pulsante Avanti dopo ogni diapositiva qui sotto per saperne di pi\u00f9 sul test cromosomico...<a href=\"https:\/\/ring20researchsupport.co.uk\/it\/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\">Altro in questa 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\/it\/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 Che cos&#039;\u00e8 un cromosoma ad anello<\/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 Diversi modi per diagnosticare le malattie genetiche<\/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\/it\/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 Diversi tipi di malattie genetiche<\/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'>cromosomi<\/span>, Geni e DNA<\/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\">AVANTI IL PROSSIMO<\/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>Spiegheremo un po&#039; di pi\u00f9 sulla FISH come tecnica di test utile, quindi ti forniremo alcune informazioni sulla storia della diagnosi r(20), sia dalla letteratura medica che dalle esperienze dei nostri membri.<\/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 PESCE<\/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 Primo caso di r(20) diagnosticato nel 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 Evoluzione della diagnosi 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>Vuoi sapere come pu\u00f2 essere diagnosticato un cromosoma ad anello? In questa presentazione spieghiamo le tecniche di test che possono essere utilizzate per identificare un cromosoma ad anello. Ti presenteremo anche brevemente come potrebbe essere il risultato del tuo test...<\/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\/it\/2022\/01\/unravel_phasei_slides2\/\" \/>\n<meta property=\"og:locale\" content=\"it_IT\" \/>\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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