{"id":2147,"date":"2022-09-13T18:35:35","date_gmt":"2022-09-13T18:35:35","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=2147"},"modified":"2023-12-29T18:33:48","modified_gmt":"2023-12-29T18:33:48","slug":"double-trouble-varias-enfermedades-geneticas-en-un-mismo-individuo","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/double-trouble-varias-enfermedades-geneticas-en-un-mismo-individuo\/","title":{"rendered":"Double trouble. Several genetic diseases in the same individual."},"content":{"rendered":"\n<p>En la era de la secuenciaci\u00f3n masiva, el acceso al estudio intensivo del genoma ha proporcionado un conocimiento mucho m\u00e1s profundo de la variabilidad gen\u00e9tica, y como \u00e9sta puede dar lugar a fenotipos complejos a partir de la combinaci\u00f3n de varias enfermedades monogen\u00e9ticas en un mismo indiv\u00edduo. <\/p>\n\n\n\n<p>Se estima que aproximadamente en el 5% de los casos, el fenotipo de un paciente puede estar explicado por la coexistencia de varias enfermedades gen\u00e9ticas simult\u00e1neas, lo cual resulta contraintuitivo, puesto que tradicionalmente se consideraban enfermedades raras, y la probabilidad a priori de su coexistencia parec\u00eda muy infrecuente (<a href=\"https:\/\/es.wikipedia.org\/wiki\/Navaja_de_Ockham\">navaja de Ockham<\/a>). Sin embargo hoy en d\u00eda hemos descubierto que nuestra noci\u00f3n de probabilidad estaba condicionada por un sesgo que impon\u00eda la limitaci\u00f3n de las t\u00e9cnicas diagn\u00f3sticas, y en realidad se trata de problemas m\u00e1s frecuentes de lo que se pod\u00eda pensar a priori. Posiblemente la distribuci\u00f3n de este efecto sea heterog\u00e9nea, acumul\u00e1ndose la mayor parte de los incidentes gen\u00e9ticos de \u00abdouble-trouble\u00bb en aquellas variantes m\u00e1s frecuentes, con <a href=\"http:\/\/neuropediatoolkit.org\/sindromes-de-microdeleccion-y-microduplicacion\">penetrancia variable, y de transmisi\u00f3n familiar<\/a>.<\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"850\" height=\"526\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-4.png\" alt=\"\" class=\"wp-image-2868\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-4.png 850w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-4-300x186.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-4-768x475.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-4-18x12.png 18w\" sizes=\"(max-width: 850px) 100vw, 850px\" \/><figcaption>https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S193152441200299X<\/figcaption><\/figure>\n\n\n<div id=\"zotpress-9125533762d88489324c80e9dd92203d\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">332710<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{332710:EQ9J2U6P},{332710:XV3J9PPL}<\/span>\n\t\t<span class=\"ZP_COLLECTION_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TAG_ID ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_AUTHOR ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_YEAR ZP_ATTR\"><\/span>\n        <span class=\"ZP_ITEMTYPE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_INCLUSIVE ZP_ATTR\">1<\/span>\n\t\t<span class=\"ZP_STYLE ZP_ATTR\">vancouver<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">default<\/span>\n\t\t<span class=\"ZP_ORDER ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TITLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_SHOWIMAGE ZP_ATTR\"><\/span>\n\t\t<span 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id=\"zp-ID-2147-332710-EQ9J2U6P\" data-zp-author-date='Beetz-and-Bauer-2020' data-zp-date-author='2020-Beetz-and-Bauer' data-zp-date='2020' data-zp-year='2020' data-zp-itemtype='journalArticle' class=\"zp-Entry zpSearchResultsItem\">\n<div class=\"csl-bib-body\" style=\"line-height: 1.35; \">\n  <div class=\"csl-entry\" style=\"clear: left; \">\n    <div class=\"csl-left-margin\" style=\"float: left; padding-right: 0.5em; text-align: right; width: 1em;\">1.<\/div><div class=\"csl-right-inline\" style=\"margin: 0 .4em 0 1.5em;\">Beetz C, Bauer P. Dual genetic diagnoses - underappreciated \u201cdouble trouble.\u201d JBCGenetics [Internet]. 2020 [cited 2022 Sept 13];52\u20133. Available from: <a class='zp-ItemURL' href='https:\/\/www.ejmanager.com\/fulltextpdf.php?mno=135141'>https:\/\/www.ejmanager.com\/fulltextpdf.php?mno=135141<\/a><\/div>\n  <\/div>\n<\/div>\n\t\t\t\t<\/div><!-- .zp-Entry .zpSearchResultsItem -->\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n\n","protected":false},"excerpt":{"rendered":"<p>En la era de la secuenciaci\u00f3n masiva, el acceso al estudio intensivo del genoma ha proporcionado un conocimiento mucho m\u00e1s profundo de la variabilidad gen\u00e9tica, y como \u00e9sta puede dar lugar a fenotipos complejos a partir de la combinaci\u00f3n de varias enfermedades monogen\u00e9ticas en un mismo indiv\u00edduo. Se estima que aproximadamente en el 5% de &hellip; <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/en\/double-trouble-varias-enfermedades-geneticas-en-un-mismo-individuo\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> \u00abDouble trouble. Varias enfermedades gen\u00e9ticas en un mismo indiv\u00edduo.\u00bb<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":2149,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[44,10],"tags":[],"class_list":["post-2147","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-consejo-genetico-y-herencia","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2147","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/comments?post=2147"}],"version-history":[{"count":2,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2147\/revisions"}],"predecessor-version":[{"id":7064,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2147\/revisions\/7064"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/2149"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=2147"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=2147"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=2147"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}