{"id":6862,"date":"2023-11-01T23:19:35","date_gmt":"2023-11-01T22:19:35","guid":{"rendered":"https:\/\/xfragil.cat\/que-es\/"},"modified":"2026-06-09T15:21:56","modified_gmt":"2026-06-09T13:21:56","slug":"que-es","status":"publish","type":"page","link":"https:\/\/xfragil.cat\/es\/que-es\/","title":{"rendered":"\u00bfQu\u00e9 es?"},"content":{"rendered":"\t\t<div data-elementor-type=\"wp-page\" data-elementor-id=\"6862\" class=\"elementor elementor-6862 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\">\u00bfQu\u00e9 es?<\/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\/es\/\">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\">\u00bfQu\u00e9 es y a qui\u00e9n 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>El S\u00edndrome X Fr\u00e1gil es un trastorno gen\u00e9tico que se debe a una mutaci\u00f3n en el gen FMR1 situado en el cromosoma X. Esta mutaci\u00f3n provoca un estre\u00f1imiento o \u201cfragilidad\u201d en la regi\u00f3n gen\u00e9tica y puede afectar a diversas \u00e1reas del desarrollo y del comportamiento. Como tal, el s\u00edndrome X Fr\u00e1gil afecta con mayor frecuencia a los hombres que a las mujeres.<\/p><p>Afecta a 1 de cada 5.000 ni\u00f1os y 1 de cada 8.000 ni\u00f1as, y 1 de cada 200 mujeres y 1 de cada 400 hombres, son portadoras sin tener manifestaciones evidentes*.<\/p><p>A diferencia de otras casu\u00edsticas, el S\u00edndrome X Fr\u00e1gil no tiene unas caracter\u00edsticas \u00fanicas, sino que son diversas. Los atributos dependen de cada persona y tambi\u00e9n del grado de afectaci\u00f3n.<\/p><p>Sin embargo, podr\u00edamos decir que la discapacidad del desarrollo es un elemento clave en el s\u00edndrome de manera general, aunque normalmente en el caso de los hombres incluye diversidad funcional intelectual, en cambio, las mujeres presentan menos afectaciones; aunque no siempre es as\u00ed.<\/p><p><small>*Fuente: Autism spectrum disorder in the fragile X premutation state: posible mechanisms and implications de Ramkumar Aishworiya, Dragana Protic y Randi Hagerman publicado en Journal of Neurology el 20 de junio 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\/2024\/03\/afectaciones-mujer-hombre-CAST-1.png\" class=\"attachment-full size-full wp-image-8015\" alt=\"\" srcset=\"https:\/\/xfragil.cat\/wp-content\/uploads\/2024\/03\/afectaciones-mujer-hombre-CAST-1.png 1080w, https:\/\/xfragil.cat\/wp-content\/uploads\/2024\/03\/afectaciones-mujer-hombre-CAST-1-300x300.png 300w, https:\/\/xfragil.cat\/wp-content\/uploads\/2024\/03\/afectaciones-mujer-hombre-CAST-1-1024x1024.png 1024w, https:\/\/xfragil.cat\/wp-content\/uploads\/2024\/03\/afectaciones-mujer-hombre-CAST-1-150x150.png 150w, https:\/\/xfragil.cat\/wp-content\/uploads\/2024\/03\/afectaciones-mujer-hombre-CAST-1-768x768.png 768w\" 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=\"diagnostico\" 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\u00f3stico<\/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\/mutacion-cast-1.svg\" class=\"attachment-full size-full wp-image-6909\" 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>Para detectar el S\u00edndrome X Fr\u00e1gil, actualmente se dispone de una serie de herramientas que permiten realizar pruebas de ADN a trav\u00e9s de m\u00e9todos de laboratorio, como por ejemplo las t\u00e9cnicas Southern blot, la ligaci\u00f3n de sondas y pruebas PCR que permiten conocer las mutaciones.<\/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\/es\/como-afecta-a-las-personas\/\">C\u00f3mo afecta a las personas<\/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>\u00bfQu\u00e9 es y a qui\u00e9n afecta? El S\u00edndrome X Fr\u00e1gil es un trastorno gen\u00e9tico que se debe a una mutaci\u00f3n en el gen FMR1 situado en el cromosoma X. Esta mutaci\u00f3n provoca un estre\u00f1imiento o \u201cfragilidad\u201d en la regi\u00f3n gen\u00e9tica y puede afectar a diversas \u00e1reas del desarrollo y del comportamiento. Como tal, el 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-6862","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>S\u00edndrome X Fr\u00e1gil: qu\u00e9 es, causas, s\u00edntomas y diagn\u00f3stico<\/title>\n<meta name=\"description\" content=\"El S\u00edndrome X Fr\u00e1gil es la principal causa hereditaria de discapacidad intelectual. 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