{"id":9002,"date":"2022-01-19T11:38:38","date_gmt":"2022-01-19T11:38:38","guid":{"rendered":"https:\/\/ring20researchsupport.co.uk\/?p=9002"},"modified":"2023-02-10T08:54:25","modified_gmt":"2023-02-10T08:54:25","slug":"unravel_phasei_video_5","status":"publish","type":"post","link":"https:\/\/ring20researchsupport.co.uk\/pt\/2022\/01\/unravel_phasei_video_5\/","title":{"rendered":"Primeiro caso de s\u00edndrome r(20) diagnosticado em 1972"},"content":{"rendered":"<div data-elementor-type=\"wp-post\" data-elementor-id=\"9002\" class=\"elementor elementor-9002\" data-elementor-post-type=\"post\">\n\t\t\t\t\t\t<section class=\"elementor-section elementor-top-section elementor-element elementor-element-3d03ab7 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"3d03ab7\" 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-3b014f9d\" data-id=\"3b014f9d\" 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-146ad0 elementor-widget elementor-widget-text-editor\" data-id=\"146ad0\" 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>De 1959 a 1980 todos usavam <span class='tooltipsall tooltipsincontent classtoolTips0'>Cromossomos<\/span> tentar entender as diferentes s\u00edndromes que seus pacientes apresentavam. O cromossomo 20 em anel foi descrito pela primeira vez como uma &#039;s\u00edndrome&#039; em 1972 com caracter\u00edsticas reconhec\u00edveis:<\/p><ul><li>Epilepsia<\/li><li>Problemas de comportamento<\/li><li>Defici\u00eancia intelectual<\/li><\/ul><p>A an\u00e1lise cromoss\u00f4mica \u00e9 menos amplamente utilizada agora, com novas t\u00e9cnicas de teste gen\u00e9tico sendo favorecidas por seus resultados mais detalhados e precisos \u2013 <strong>exceto no caso de anel <span class='tooltipsall tooltipsincontent classtoolTips0'>Cromossomos<\/span><\/strong>. Em nosso pr\u00f3ximo post, demonstraremos como essa mudan\u00e7a de mudan\u00e7a nas t\u00e9cnicas de diagn\u00f3stico resultou em uma queda no n\u00famero de pessoas diagnosticadas com a s\u00edndrome r(20).<\/p><p><em>Assista a esses v\u00eddeos curtos para saber mais\u2026<\/em><\/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-bf9b022 elementor-section-boxed elementor-section-height-default elementor-section-height-default\" data-id=\"bf9b022\" 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-50 elementor-top-column elementor-element elementor-element-17461e4\" data-id=\"17461e4\" 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-c3c06f3 elementor-widget elementor-widget-video\" data-id=\"c3c06f3\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;youtube_url&quot;:&quot;https:\\\/\\\/youtu.be\\\/3YtlQoAW3TQ&quot;,&quot;autoplay&quot;:&quot;yes&quot;,&quot;play_on_mobile&quot;:&quot;yes&quot;,&quot;video_type&quot;:&quot;youtube&quot;,&quot;controls&quot;:&quot;yes&quot;}\" data-widget_type=\"video.default\">\n\t\t\t\t\t\t\t<div class=\"elementor-wrapper elementor-open-inline\">\n\t\t\t<div class=\"elementor-video\"><\/div>\t\t<\/div>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t<\/div>\n\t\t\t\t<div class=\"elementor-column elementor-col-50 elementor-top-column elementor-element elementor-element-6b7bfed\" data-id=\"6b7bfed\" 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-5d465b0 elementor-widget elementor-widget-heading\" data-id=\"5d465b0\" 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\">Mais nesta s\u00e9rie:<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-fdb07fa elementor-icon-list--layout-traditional elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"fdb07fa\" 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\/pt\/2022\/01\/unravel_phasei_slides2\/\">\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\">6 PEIXES<\/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<a href=\"https:\/\/ring20researchsupport.co.uk\/pt\/2021\/12\/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\">5 Anel <span class='tooltipsall tooltipsincontent classtoolTips0'>Cromossomos<\/span>: Teste de diagn\u00f3stico<\/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<a href=\"https:\/\/ring20researchsupport.co.uk\/pt\/2021\/12\/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 O que \u00e9 um cromossomo em anel<\/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<a href=\"https:\/\/ring20researchsupport.co.uk\/pt\/2021\/12\/unravel_phasei_video_2\/\">\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\">3 maneiras diferentes de diagnosticar doen\u00e7as gen\u00e9ticas<\/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<a href=\"https:\/\/ring20researchsupport.co.uk\/pt\/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 doen\u00e7as gen\u00e9ticas<\/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<a href=\"https:\/\/ring20researchsupport.co.uk\/pt\/2021\/12\/unravel_phasei_slides1\/\">\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-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'>Cromossomos<\/span>, Genes e DNA<\/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<\/ul>\n\t\t\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-655f547 elementor-widget elementor-widget-heading\" data-id=\"655f547\" 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\">A SEGUIR:<\/h3>\t\t\t\t<\/div>\n\t\t\t\t<div class=\"elementor-element elementor-element-80b99b1 elementor-icon-list--layout-traditional elementor-list-item-link-full_width elementor-widget elementor-widget-icon-list\" data-id=\"80b99b1\" 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-image\" viewbox=\"0 0 512 512\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\"><path d=\"M464 448H48c-26.51 0-48-21.49-48-48V112c0-26.51 21.49-48 48-48h416c26.51 0 48 21.49 48 48v288c0 26.51-21.49 48-48 48zM112 120c-30.928 0-56 25.072-56 56s25.072 56 56 56 56-25.072 56-56-25.072-56-56-56zM64 384h384V272l-87.515-87.515c-4.686-4.686-12.284-4.686-16.971 0L208 320l-55.515-55.515c-4.686-4.686-12.284-4.686-16.971 0L64 336v48z\"><\/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 Evolu\u00e7\u00e3o do 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>O cromossomo 20 do anel foi descrito pela primeira vez como uma s\u00edndrome em 1972, ent\u00e3o n\u00e3o faz muito tempo. Saiba mais sobre a hist\u00f3ria da s\u00edndrome r(20)<\/p>","protected":false},"author":3,"featured_media":9004,"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":[107,111],"tags":[],"class_list":["post-9002","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-genetics","category-video"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.1 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>First case of r(20) syndrome diagnosed 1972 - 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\/pt\/2022\/01\/unravel_phasei_video_5\/\" \/>\n<meta property=\"og:locale\" content=\"pt_PT\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"First case of r(20) syndrome diagnosed 1972 - Ring20 Research and Support UK CIO\" \/>\n<meta property=\"og:description\" content=\"Ring Chromosome 20 was first described as a syndrome in 1972, so not that long ago. 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