{"id":2441,"date":"2016-11-15T09:14:49","date_gmt":"2016-11-15T09:14:49","guid":{"rendered":"http:\/\/sindromecharge.es\/index.php\/2016\/11\/15\/feder-se-al-dia-mundial-del-sindrome-idic15\/"},"modified":"2016-11-15T09:14:49","modified_gmt":"2016-11-15T09:14:49","slug":"feder-se-al-dia-mundial-del-sindrome-idic15","status":"publish","type":"post","link":"https:\/\/sindromecharge.es\/index.php\/2016\/11\/15\/feder-se-al-dia-mundial-del-sindrome-idic15\/","title":{"rendered":"FEDER se al D\u00eda Mundial del S\u00edndrome Idic15"},"content":{"rendered":"<p>Leemos en FEDER la siguiente noticia que os reproducimos de forma \u00edntegra: <\/p>\n<p><p>La Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras (FEDER) se une el 15 de noviembre a la celebraci\u00f3n del D\u00eda Mundial del S\u00edndrome Idic15, una alteraci\u00f3n de origen gen\u00e9tico que tiene una prevalencia de 1 por cada 30.000 nacidos.<\/p>\n<p>\u00abDesde FEDER nos adherimos p\u00fablicamente a este d\u00eda, contribuyendo a la visibilidad y las prioridades de este colectivo\u00bb explica Juan Carri\u00f3n, Presidente de FEDER, atendiendo a la necesidad de investigaci\u00f3n, coordinaci\u00f3n entre profesionales y la necesidad de mejorar la informaci\u00f3n y su acceso en materia de Idic15.<\/p>\n<p>Sobre las Enfermedades Neuromusculares<\/p>\n<p>Es una alteraci\u00f3n de origen gen\u00e9tico. Se trata de una cromosomopat\u00eda de origen num\u00e9rico y a su vez, estructural, originada por un cromosoma 15 extra (supernumerario). Es una especie de trisom\u00eda del cromosoma 15 visualizada en cariotipo. El cromosoma extra, no es una copia exacta de un de un cromosomas 15 sin alteraci\u00f3n, realmente es un cromosoma isodic\u00e9ntrico del cromosoma 15 y de ah\u00ed el nombre del s\u00edndrome idic15(IsoDIC\u00e9ntrico del cromosoma 15), aunque \u00e9sta alteraci\u00f3n en el la bibliograf\u00eda m\u00e9dica tambi\u00e9n la denominan s\u00edndrome \u201cinvdup15\u201d, \u201cDup15q\u201d,o \u201ctetrasom\u00eda parcial del cromosoma 15\u201d. En la base de datos de enfermedades raras la catalogan como tetrasom\u00eda15q. En cualquiera de los casos, se trata de la misma alteraci\u00f3n cromos\u00f3mica completamente compatible con la vida. Existen casos en los que se tiene una inversi\u00f3n-duplicaci\u00f3n sin tener un cromosoma extra, son las llamadas inversiones-duplicaciones intersticiales en el propio cromosoma 15.<\/p>\n<p style=\"text-align: right\">15\/11\/2016.<\/p>\n<p style=\"text-align: right\"><span style=\"text-decoration: underline\"><a href=\"http:\/\/www.enfermedades-raras.org\/%20http:\/www.idic15q.com\/index2.php?site=idic15q&amp;P1=1#definicion\" target=\"_blank\">Fuente.<\/a><\/span><\/p>\n<\/p>\n<p>Fuente: FEDER <a href=\"http:\/\/www.enfermedades-raras.org\/index.php\/actualidad\/noticias-eventos\/2-feder\/7174-feder-se-al-d%C3%ADa-mundial-del-s%C3%ADndrome-idic15\" target=\"_blank\">FEDER se al D\u00eda Mundial del S\u00edndrome Idic15<\/a><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Leemos en FEDER la siguiente noticia que os reproducimos de forma \u00edntegra: La Federaci\u00f3n Espa\u00f1ola de Enfermedades Raras (FEDER) se une el 15 de noviembre a la celebraci\u00f3n del D\u00eda Mundial del S\u00edndrome Idic15, una alteraci\u00f3n de origen gen\u00e9tico que tiene una prevalencia de 1 por cada 30.000 nacidos. \u00abDesde FEDER nos adherimos p\u00fablicamente a [&hellip;]<\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"open","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[8],"tags":[36],"class_list":["post-2441","post","type-post","status-publish","format-standard","hentry","category-noticias","tag-enfermedades-raras"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - 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