{"id":1980,"date":"2024-07-22T11:42:11","date_gmt":"2024-07-22T17:42:11","guid":{"rendered":"https:\/\/aguilasalporvenir.com\/?p=1980"},"modified":"2024-07-22T11:42:11","modified_gmt":"2024-07-22T17:42:11","slug":"dia-mundial-del-sindrome-del-cromosoma-x-fragil","status":"publish","type":"post","link":"https:\/\/aguilasalporvenir.com\/index.php\/2024\/07\/22\/dia-mundial-del-sindrome-del-cromosoma-x-fragil\/","title":{"rendered":"D\u00eda Mundial del S\u00edndrome del Cromosoma X Fr\u00e1gil"},"content":{"rendered":"<p>Cada 22 de julio se rinde homenaje a aquellos pacientes que padecen de una enfermedad causada por la mutaci\u00f3n de un gen vinculado al cromosoma X. Se celebra el\u00a0<strong>D\u00eda Mundial del S\u00edndrome del Cromosoma X Fr\u00e1gil<\/strong>.<\/p>\n<p>Con la celebraci\u00f3n de esta efem\u00e9ride se pretende divulgar informaci\u00f3n acerca de esta patolog\u00eda, as\u00ed como promover la inclusi\u00f3n de las personas diagnosticadas con este s\u00edndrome.<\/p>\n<p><img fetchpriority=\"high\" decoding=\"async\" class=\"size-full wp-image-1983 aligncenter\" src=\"https:\/\/aguilasalporvenir.com\/wp-content\/uploads\/2024\/07\/07-22_dia-cromosoma-x-fragi-1.jpg\" alt=\"\" width=\"305\" height=\"203\" srcset=\"https:\/\/aguilasalporvenir.com\/wp-content\/uploads\/2024\/07\/07-22_dia-cromosoma-x-fragi-1.jpg 305w, https:\/\/aguilasalporvenir.com\/wp-content\/uploads\/2024\/07\/07-22_dia-cromosoma-x-fragi-1-300x200.jpg 300w\" sizes=\"(max-width: 305px) 100vw, 305px\" \/><\/p>\n<h2>\u00bfQu\u00e9 es el S\u00edndrome del Cromosoma X Fr\u00e1gil?<\/h2>\n<p>El\u00a0<strong>S\u00edndrome del Cromosoma X Fr\u00e1gil<\/strong>, tambi\u00e9n conocido como el\u00a0<strong>S\u00edndrome Martin-Bell<\/strong>, es un trastorno gen\u00e9tico caracterizado por la mutaci\u00f3n del gen FMR1, asociado al cromosoma X. Este gen produce una prote\u00edna necesaria para que el cerebro crezca adecuadamente.<\/p>\n<p>En 1943 los cient\u00edficos\u00a0<strong><em>James Purdon. Martin<\/em><\/strong>\u00a0y\u00a0<strong><em>Julia Bell\u00a0<\/em><\/strong>descubrieron rasgos peculiares en pacientes que padec\u00edan alg\u00fan retraso hereditario, asociado al cromosoma X que se vincula con la discapacidad cognitiva. Posteriormente, en 1991 el cient\u00edfico\u00a0<em><strong>Lubs<\/strong><\/em>\u00a0descubri\u00f3 el gen vinculado a la enfermedad.<\/p>\n<p>Esta patolog\u00eda se presenta en ambos sexos, con menor prevalencia en el sexo femenino, ya que poseen dos cromosomas X, siendo protegidas por el segundo cromosoma.<\/p>\n<p><img decoding=\"async\" class=\"size-full wp-image-1982 aligncenter\" src=\"https:\/\/aguilasalporvenir.com\/wp-content\/uploads\/2024\/07\/SINDROME-DEL-CROMOSOMA-X-FRAGIL.jpg\" alt=\"\" width=\"600\" height=\"338\" srcset=\"https:\/\/aguilasalporvenir.com\/wp-content\/uploads\/2024\/07\/SINDROME-DEL-CROMOSOMA-X-FRAGIL.jpg 600w, https:\/\/aguilasalporvenir.com\/wp-content\/uploads\/2024\/07\/SINDROME-DEL-CROMOSOMA-X-FRAGIL-300x169.jpg 300w\" sizes=\"(max-width: 600px) 100vw, 600px\" \/><\/p>\n<p>Algunos de los\u00a0<strong>s\u00edntomas o caracter\u00edsticas de este s\u00edndrome\u00a0<\/strong>son los siguientes, asociados al comportamiento y rasgos f\u00edsicos:<\/p>\n<ul>\n<li>Discapacidad intelectual.<\/li>\n<li>Retraso en el habla y el lenguaje.<\/li>\n<li>Tendencia a evitar el contacto visual.<\/li>\n<li>Dificultades para gatear, caminar o voltearse.<\/li>\n<li>Palmotear o morderse las manos.<\/li>\n<\/ul>\n<ul>\n<li>Comportamiento hiperactivo o impulsivo.<\/li>\n<li>Articulaciones flexibles y tono muscular bajo.<\/li>\n<li>Pies planos.<\/li>\n<li>Piel suave.<\/li>\n<li>Aumento de las dimensiones del cuerpo, orejas o frente.<\/li>\n<li>Mand\u00edbula prominente.<\/li>\n<li>Cara alargada.<\/li>\n<\/ul>\n<p>Tales rasgos caracter\u00edsticos se presentan en los primeros meses de vida del paciente o despu\u00e9s de la pubertad.<\/p>\n<p>&nbsp;<\/p>\n<p><strong>FUENTE:<\/strong><\/p>\n<p><strong>https:\/\/www.diainternacionalde.com\/<\/strong><\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>Cada 22 de julio se rinde homenaje a aquellos pacientes que padecen de una enfermedad causada por la mutaci\u00f3n de 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