{"id":1123,"date":"2014-01-06T13:57:15","date_gmt":"2014-01-06T12:57:15","guid":{"rendered":"https:\/\/blog.uchceu.es\/enfermeria\/?p=1123"},"modified":"2021-04-26T13:27:53","modified_gmt":"2021-04-26T11:27:53","slug":"objetivo-investigar-cromosoma-22q13","status":"publish","type":"post","link":"https:\/\/blog.uchceu.es\/enfermeria\/objetivo-investigar-cromosoma-22q13\/","title":{"rendered":"Objetivo: INVESTIGAR. Cromosoma 22q13"},"content":{"rendered":"<p>&nbsp;<\/p>\n<p><a href=\"https:\/\/blog.uchceu.es\/enfermeria\/wp-content\/uploads\/sites\/4\/2014\/01\/cromosoma-foto_n.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1124\" alt=\"cromosoma foto_n\" src=\"https:\/\/blog.uchceu.es\/enfermeria\/wp-content\/uploads\/sites\/4\/2014\/01\/cromosoma-foto_n-315x116.jpg\" width=\"315\" height=\"116\" \/><\/a><\/p>\n<p>La p\u00e9rdida de material gen\u00e9tico del extremo terminal de cromosoma 22 produce el <strong>s\u00edndrome de Phelan-McDermind<\/strong> (tambi\u00e9n llamado<strong> deleci\u00f3n del cromosoma 22q13<\/strong>). La mutaci\u00f3n o ausencia del gen SHANK3 aparece de forma espont\u00e1nea.<\/p>\n<p>Ya que cada individuo pierde diferentes cantidades de material gen\u00e9tico, las <strong>manifestaciones cl\u00ednicas<\/strong> no son las mismas en todos los afectados, en general (a destacar) podemos hablar de:<\/p>\n<ul>\n<li><strong>A nivel f\u00edsico<\/strong>: en general dismorfismos, crecimiento acelerado, manos grandes, u\u00f1as de los pies displ\u00e1sicas, pesta\u00f1as largas, dolicocefalia, orejas grandes, etc. A destacar la hipoton\u00eda muscular inicial.<\/li>\n<li><strong>A nivel cognitivo<\/strong>: dificultad de aprendizaje, retraso del inicio del habla (afasia), manifestaciones de autismo o trastornos del espectro autista, etc.<\/li>\n<\/ul>\n<p>Diagn\u00f3stico. Se realiza inicialmente un<strong> diagn\u00f3stico diferencial<\/strong> (cuando son evidentes algunas de las manifestaciones citadas anteriormente) y se confirma, cuando se sospecha de que tiene una base gen\u00e9tica, a trav\u00e9s del microarrray (tambi\u00e9n llamada hibridaci\u00f3n gen\u00f3mica comparada o \u201carray CGH) y a trav\u00e9s del an\u00e1lisis de los cromosomas (cariotipo o la hibridaci\u00f3n in situ fluorescente FISH, que detecta grandes deleciones).<\/p>\n<p>&nbsp;<\/p>\n<p><b>\u00bfQu\u00e9 necesitamos?<\/b><\/p>\n<p><b>M\u00e1xima difusi\u00f3n e investigadores<\/b> que quieran asumir este gran reto.<\/p>\n<p>El tratamiento actual se centra en dos grandes bloques (que pueden ser posibles l\u00edneas de investigaci\u00f3n):<\/p>\n<p><strong>1\/ Terapia f\u00edsica:<\/strong> Fisioterapia (masajes y trabajo de la psicomotricidad, hidroterapia, nataci\u00f3n) equinoterapia, equitaci\u00f3n terap\u00e9utica y terapia con delfines.<\/p>\n<p><strong>2\/ Terapia cognitiva:<\/strong> Logopeda, Lenguaje de signos y sistema PECS (comunicaci\u00f3n mediante im\u00e1genes, fotos o pictogramas). Las nuevas tecnolog\u00edas (con tablets e IPads pueden ser de gran ayuda).<\/p>\n<p>&nbsp;<\/p>\n<p><strong>M\u00e1s informaci\u00f3n en:<\/strong><\/p>\n<p><a title=\"22q13\" href=\"https:\/\/22q13.org.es\/\" target=\"_blank\" rel=\"noopener\">Asociaci\u00f3n S\u00edndrome Phelan-McDermind<\/a><\/p>\n<p>Extra confidencial.com Lo que nadie se atreve a contar<\/p>\n<p>FEDER. Sociedad Espa\u00f1ola de Enfermedades raras<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n<p>&nbsp;<\/p>\n","protected":false},"excerpt":{"rendered":"<p>&nbsp; La p\u00e9rdida de material gen\u00e9tico del extremo terminal de cromosoma 22 produce el s\u00edndrome de Phelan-McDermind (tambi\u00e9n llamado deleci\u00f3n del cromosoma 22q13). La mutaci\u00f3n o ausencia del gen SHANK3 aparece de forma espont\u00e1nea. Ya que cada individuo pierde diferentes cantidades de material gen\u00e9tico, las manifestaciones cl\u00ednicas no son las mismas en todos los afectados, [&hellip;]<\/p>\n","protected":false},"author":51,"featured_media":1124,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[5],"tags":[42,114,145],"class_list":{"0":"post-1123","1":"post","2":"type-post","3":"status-publish","4":"format-standard","5":"has-post-thumbnail","7":"category-noticias-del-sector","8":"tag-cromosoma","9":"tag-investigacion","10":"tag-phelan-mcdermind"},"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v26.7 - https:\/\/yoast.com\/wordpress\/plugins\/seo\/ -->\n<title>Objetivo: INVESTIGAR. Cromosoma 22q13<\/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:\/\/blog.uchceu.es\/enfermeria\/objetivo-investigar-cromosoma-22q13\/\" \/>\n<meta property=\"og:locale\" content=\"es_ES\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Objetivo: INVESTIGAR. Cromosoma 22q13\" \/>\n<meta property=\"og:description\" content=\"&nbsp; La p\u00e9rdida de material gen\u00e9tico del extremo terminal de cromosoma 22 produce el s\u00edndrome de Phelan-McDermind (tambi\u00e9n llamado deleci\u00f3n del cromosoma 22q13). La mutaci\u00f3n o ausencia del gen SHANK3 aparece de forma espont\u00e1nea. Ya que cada individuo pierde diferentes cantidades de material gen\u00e9tico, las manifestaciones cl\u00ednicas no son las mismas en todos los afectados, [&hellip;]\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blog.uchceu.es\/enfermeria\/objetivo-investigar-cromosoma-22q13\/\" \/>\n<meta property=\"og:site_name\" content=\"Blog de Enfermer\u00eda\" \/>\n<meta property=\"article:publisher\" content=\"https:\/\/www.facebook.com\/UCHCEU\" \/>\n<meta property=\"article:published_time\" content=\"2014-01-06T12:57:15+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2021-04-26T11:27:53+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blog.uchceu.es\/enfermeria\/wp-content\/uploads\/sites\/4\/2014\/01\/cromosoma-foto_n.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"851\" \/>\n\t<meta property=\"og:image:height\" content=\"315\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\n<meta name=\"author\" content=\"Jos\u00e9 Vicente Carmona\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@uchceu\" \/>\n<meta name=\"twitter:site\" content=\"@uchceu\" \/>\n<meta name=\"twitter:label1\" content=\"Escrito por\" \/>\n\t<meta name=\"twitter:data1\" content=\"Jos\u00e9 Vicente Carmona\" \/>\n\t<meta name=\"twitter:label2\" content=\"Tiempo de lectura\" \/>\n\t<meta name=\"twitter:data2\" content=\"2 minutos\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\/\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\/\/blog.uchceu.es\/enfermeria\/objetivo-investigar-cromosoma-22q13\/#article\",\"isPartOf\":{\"@id\":\"https:\/\/blog.uchceu.es\/enfermeria\/objetivo-investigar-cromosoma-22q13\/\"},\"author\":{\"name\":\"Jos\u00e9 Vicente Carmona\",\"@id\":\"https:\/\/blog.uchceu.es\/enfermeria\/en\/#\/schema\/person\/a3072cb513eecf0f16ea224f17237214\"},\"headline\":\"Objetivo: INVESTIGAR. 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