{"id":1222,"date":"2023-11-01T23:19:35","date_gmt":"2023-11-01T22:19:35","guid":{"rendered":"https:\/\/xfragil.cat\/?page_id=1222"},"modified":"2024-03-05T13:02:12","modified_gmt":"2024-03-05T12:02:12","slug":"que-es","status":"publish","type":"page","link":"https:\/\/xfragil.cat\/ca\/que-es\/","title":{"rendered":"Qu\u00e8 \u00e9s?"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"1222\" class=\"elementor elementor-1222\" data-elementor-settings=\"{&quot;ha_cmc_init_switcher&quot;:&quot;no&quot;}\" data-elementor-post-type=\"page\">\n\t\t\t\t<div class=\"elementor-element elementor-element-43988fa e-flex e-con-boxed e-con e-parent\" data-id=\"43988fa\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;,&quot;_ha_eqh_enable&quot;:false}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-5be5a45 e-con-full e-flex e-con e-child\" data-id=\"5be5a45\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;_ha_eqh_enable&quot;:false}\">\n\t\t\t\t<div class=\"elementor-element elementor-element-22ed3be elementor-widget elementor-widget-heading\" data-id=\"22ed3be\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h1 class=\"elementor-heading-title elementor-size-default\">Qu\u00e8 \u00e9s?<\/h1>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-334aa65 e-con-full e-flex e-con e-child\" data-id=\"334aa65\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;_ha_eqh_enable&quot;:false}\">\n\t\t\t\t<div class=\"elementor-element elementor-element-6a16505 elementor-align-right elementor-tablet-align-left elementor-mobile-align-left elementor-widget elementor-widget-breadcrumbs\" data-id=\"6a16505\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"breadcrumbs.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<p id=\"breadcrumbs\"><span><span><a href=\"https:\/\/xfragil.cat\/ca\/\">Portada<\/a><\/span><\/span><\/p>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-0293ff3 e-flex e-con-boxed e-con e-parent\" data-id=\"0293ff3\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;_ha_eqh_enable&quot;:false}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-b70feae elementor-widget elementor-widget-heading\" data-id=\"b70feae\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">Qu\u00e8 \u00e9s i a qui afecta?<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-bafb001 e-flex e-con-boxed e-con e-parent\" data-id=\"bafb001\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;_ha_eqh_enable&quot;:false}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-ce3602a e-con-full e-flex e-con e-child\" data-id=\"ce3602a\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;_ha_eqh_enable&quot;:false}\">\n\t\t\t\t<div class=\"elementor-element elementor-element-bcb8ab3 elementor-widget elementor-widget-text-editor\" data-id=\"bcb8ab3\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>La S\u00edndrome X Fr\u00e0gil \u00e9s un trastorn gen\u00e8tic que es deu a una <b>mutaci\u00f3 en el gen FMR1 situat en el cromosoma X<\/b>. Aquesta mutaci\u00f3 provoca un estrenyiment o \u201cfragilitat\u201d en la regi\u00f3 gen\u00e8tica i pot <b>afectar diverses \u00e0rees del desenvolupament i del comportament<\/b>. Com a tal, la s\u00edndrome X Fr\u00e0gil afecta amb m\u00e9s freq\u00fc\u00e8ncia als homes que a les dones.<\/p><p>Afecta 1 de cada 5.000 nens i 1 de cada 8.000 nenes, i 1 de cada 200 dones i 1 de cada 400 homes, s\u00f3n portadores sense tenir manifestacions evidents*.<\/p><p>A difer\u00e8ncia d\u2019altres casu\u00edstiques, la S\u00edndrome X Fr\u00e0gil <b>no t\u00e9 unes caracter\u00edstiques \u00faniques<\/b>, sin\u00f3 que s\u00f3n diverses. Els atributs depenen de cada persona i tamb\u00e9 del grau d\u2019afectaci\u00f3.<\/p><p>Podr\u00edem dir per\u00f2, que la <b>discapacitat del desenvolupament \u00e9s un element clau en la s\u00edndrome de manera general<\/b>, tot i que normalment en el cas dels homes inclou diversitat funcional intel\u00b7lectual, en canvi, les dones presenten menys afectacions; tot i que no sempre \u00e9s aix\u00ed.<\/p><p>\u00a0<\/p><p><small>*Font: Autism spectrum disorder in the fragile X premutation state: possible mechanisms and implications de Ramkumar Aishworiya, Dragana Protic i Randi Hagerman publicat a Journal of Neurology el 20 de juny de 2022<\/small><\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-d8c73b5 e-con-full e-flex e-con e-child\" data-id=\"d8c73b5\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;_ha_eqh_enable&quot;:false}\">\n\t\t\t\t<div class=\"elementor-element elementor-element-2fb241f elementor-widget elementor-widget-image\" data-id=\"2fb241f\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img fetchpriority=\"high\" decoding=\"async\" width=\"1080\" height=\"1080\" src=\"https:\/\/xfragil.cat\/wp-content\/uploads\/2023\/12\/afectacions-dona-home-cat-1.svg\" class=\"attachment-full size-full wp-image-2459\" alt=\"\" srcset=\"https:\/\/xfragil.cat\/wp-content\/uploads\/2023\/12\/afectacions-dona-home-cat-1.svg 150w, https:\/\/xfragil.cat\/wp-content\/uploads\/2023\/12\/afectacions-dona-home-cat-1.svg 300w, https:\/\/xfragil.cat\/wp-content\/uploads\/2023\/12\/afectacions-dona-home-cat-1.svg 1024w, https:\/\/xfragil.cat\/wp-content\/uploads\/2023\/12\/afectacions-dona-home-cat-1.svg 1536w, https:\/\/xfragil.cat\/wp-content\/uploads\/2023\/12\/afectacions-dona-home-cat-1.svg 2048w, https:\/\/xfragil.cat\/wp-content\/uploads\/2023\/12\/afectacions-dona-home-cat-1.svg 1080w\" sizes=\"(max-width: 1080px) 100vw, 1080px\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-2e42d5b e-flex e-con-boxed e-con e-parent\" data-id=\"2e42d5b\" data-element_type=\"container\" data-e-type=\"container\" id=\"diagnostic\" data-settings=\"{&quot;_ha_eqh_enable&quot;:false}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-975b5f2 elementor-widget elementor-widget-heading\" data-id=\"975b5f2\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<h2 class=\"elementor-heading-title elementor-size-default\">El diagn\u00f2stic<\/h2>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-1e198dc e-flex e-con-boxed e-con e-parent\" data-id=\"1e198dc\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;_ha_eqh_enable&quot;:false}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t<div class=\"elementor-element elementor-element-5f50070 e-con-full e-flex e-con e-child\" data-id=\"5f50070\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;_ha_eqh_enable&quot;:false}\">\n\t\t\t\t<div class=\"elementor-element elementor-element-0b7a4bf elementor-widget elementor-widget-image\" data-id=\"0b7a4bf\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"image.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<img decoding=\"async\" width=\"2238\" height=\"1390\" src=\"https:\/\/xfragil.cat\/wp-content\/uploads\/2023\/12\/mutacio-cat-1.svg\" class=\"attachment-full size-full wp-image-2460\" alt=\"\" \/>\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-cc61d3a e-con-full e-flex e-con e-child\" data-id=\"cc61d3a\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;_ha_eqh_enable&quot;:false}\">\n\t\t\t\t<div class=\"elementor-element elementor-element-44f4660 elementor-widget elementor-widget-text-editor\" data-id=\"44f4660\" data-element_type=\"widget\" data-e-type=\"widget\" data-widget_type=\"text-editor.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t\t\t\t\t<p>Per tal de detectar la S\u00edndrome X Fr\u00e0gil, actualment es disposa d\u2019una s\u00e8rie d\u2019<b>eines que permeten realitzar proves d\u2019ADN<\/b> a trav\u00e9s de m\u00e8todes de laboratori, com per exemple les t\u00e8cniques Southern blot, la lligaci\u00f3 de sondes i proves PCR que permeten con\u00e8ixer les mutacions.<\/p>\t\t\t\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t<div class=\"elementor-element elementor-element-3be12b1 e-flex e-con-boxed e-con e-parent\" data-id=\"3be12b1\" data-element_type=\"container\" data-e-type=\"container\" data-settings=\"{&quot;background_background&quot;:&quot;classic&quot;,&quot;_ha_eqh_enable&quot;:false}\">\n\t\t\t\t\t<div class=\"e-con-inner\">\n\t\t\t\t<div class=\"elementor-element elementor-element-289219f e-transform elementor-widget elementor-widget-heading\" data-id=\"289219f\" data-element_type=\"widget\" data-e-type=\"widget\" data-settings=\"{&quot;_transform_scale_effect_hover&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:1.1000000000000001,&quot;sizes&quot;:[]},&quot;_transform_scale_effect_hover_tablet&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:[]},&quot;_transform_scale_effect_hover_mobile&quot;:{&quot;unit&quot;:&quot;px&quot;,&quot;size&quot;:&quot;&quot;,&quot;sizes&quot;:[]}}\" data-widget_type=\"heading.default\">\n\t\t\t\t<div class=\"elementor-widget-container\">\n\t\t\t\t\t<div class=\"elementor-heading-title elementor-size-default\"><a href=\"https:\/\/xfragil.cat\/com-afecta-a-les-persones\/\">Com afecta a les persones<\/a><\/div>\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t\t\t<\/div>\n\t\t","protected":false},"excerpt":{"rendered":"<p>Qu\u00e8 \u00e9s i a qui afecta? La S\u00edndrome X Fr\u00e0gil \u00e9s un trastorn gen\u00e8tic que es deu a una mutaci\u00f3 en el gen FMR1 situat en el cromosoma X. Aquesta mutaci\u00f3 provoca un estrenyiment o \u201cfragilitat\u201d en la regi\u00f3 gen\u00e8tica i pot afectar diverses \u00e0rees del desenvolupament i del comportament. Com a tal, la s\u00edndrome [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"parent":0,"menu_order":0,"comment_status":"closed","ping_status":"closed","template":"elementor_header_footer","meta":{"footnotes":""},"class_list":["post-1222","page","type-page","status-publish","hentry"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v28.2 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Qu\u00e8 \u00e9s la S\u00edndrome X Fr\u00e0gil. Informaci\u00f3 Gen\u00e8tica i Afectaci\u00f3.<\/title>\n<meta name=\"description\" content=\"Ent\u00e9n la S\u00edndrome X Fr\u00e0gil: mutaci\u00f3 gen\u00e8tica FMR1, impacte en el desenvolupament, freq\u00fc\u00e8ncia d&#039;afectaci\u00f3 i m\u00e8todes de diagn\u00f2stic.\" \/>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/xfragil.cat\/ca\/que-es\/\" \/>\n<meta property=\"og:locale\" content=\"ca_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Qu\u00e8 \u00e9s la S\u00edndrome X Fr\u00e0gil. 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