{"id":2147,"date":"2022-09-13T18:35:35","date_gmt":"2022-09-13T18:35:35","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=2147"},"modified":"2026-06-22T20:07:35","modified_gmt":"2026-06-22T20:07:35","slug":"double-trouble-varias-enfermedades-geneticas-en-un-mismo-individuo","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/de\/double-trouble-varias-enfermedades-geneticas-en-un-mismo-individuo\/","title":{"rendered":"Doppelter \u00c4rger. Mehrere genetische Erkrankungen bei derselben Person."},"content":{"rendered":"\n<p class=\"wp-block-paragraph\">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 class=\"wp-block-paragraph\">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=\"https:\/\/neuropediatoolkit.org\/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-2c6f87570cbc9c5b97e5ec8d320136c8\" class=\"zp-Zotpress zp-Zotpress-Bib wp-block-group\">\n\n\t\t<span class=\"ZP_API_USER_ID ZP_ATTR\">19955111<\/span>\n\t\t<span class=\"ZP_ITEM_KEY ZP_ATTR\">{19955111:5XWZVY93},{19955111: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 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ZP_ATTR\">%7B%22status%22%3A%22success%22%2C%22updateneeded%22%3Afalse%2C%22instance%22%3Afalse%2C%22meta%22%3A%7B%22request_last%22%3A0%2C%22request_next%22%3A0%2C%22used_cache%22%3Atrue%7D%2C%22data%22%3A%5B%7B%22key%22%3A%225XWZVY93%22%2C%22library%22%3A%7B%22id%22%3A19955111%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Beetz%20and%20Bauer%22%2C%22parsedDate%22%3A%222020%22%2C%22numChildren%22%3A1%7D%2C%22bib%22%3A%22%26lt%3Bdiv%20class%3D%26quot%3Bcsl-bib-body%26quot%3B%20style%3D%26quot%3Bline-height%3A%201.35%3B%20%26quot%3B%26gt%3B%5Cn%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-entry%26quot%3B%20style%3D%26quot%3Bclear%3A%20left%3B%20%26quot%3B%26gt%3B%5Cn%20%20%20%20%26lt%3Bdiv%20class%3D%26quot%3Bcsl-left-margin%26quot%3B%20style%3D%26quot%3Bfloat%3A%20left%3B%20padding-right%3A%200.5em%3B%20text-align%3A%20right%3B%20width%3A%201em%3B%26quot%3B%26gt%3B1.%26lt%3B%5C%2Fdiv%26gt%3B%26lt%3Bdiv%20class%3D%26quot%3Bcsl-right-inline%26quot%3B%20style%3D%26quot%3Bmargin%3A%200%20.4em%200%201.5em%3B%26quot%3B%26gt%3BBeetz%20C%2C%20Bauer%20P.%20Dual%20genetic%20diagnoses%20-%20underappreciated%20%26%23x201C%3Bdouble%20trouble.%26%23x201D%3B%20JBCGenetics%20%5BInternet%5D.%202020%20%5Bcited%202022%20Sept%2013%5D%3B52%26%23x2013%3B3.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttps%3A%5C%2F%5C%2Fwww.ejmanager.com%5C%2Ffulltextpdf.php%3Fmno%3D135141%26%23039%3B%26gt%3Bhttps%3A%5C%2F%5C%2Fwww.ejmanager.com%5C%2Ffulltextpdf.php%3Fmno%3D135141%26lt%3B%5C%2Fa%26gt%3B%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%20%20%26lt%3B%5C%2Fdiv%26gt%3B%5Cn%26lt%3B%5C%2Fdiv%26gt%3B%22%2C%22data%22%3A%7B%22itemType%22%3A%22journalArticle%22%2C%22title%22%3A%22Dual%20genetic%20diagnoses%20-%20underappreciated%20%5C%22double%20trouble%5C%22%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Christian%22%2C%22lastName%22%3A%22Beetz%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Peter%22%2C%22lastName%22%3A%22Bauer%22%7D%5D%2C%22abstractNote%22%3A%22Abstract%20Not%20Available%22%2C%22date%22%3A%222020%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.24911%5C%2FJBCGenetics%5C%2F183-1600154983%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22https%3A%5C%2F%5C%2Fwww.ejmanager.com%5C%2Ffulltextpdf.php%3Fmno%3D135141%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221658-807X%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%22B4B6FZGE%22%5D%2C%22dateModified%22%3A%222026-07-15T22%3A41%3A21Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t<div id=\"zp-ID-2147-19955111-5XWZVY93\" 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>Im Zeitalter der Massensequenzierung hat der Zugang zu einer intensiven Untersuchung des Genoms zu einem viel tieferen Wissen \u00fcber die genetische Variabilit\u00e4t und die Frage gef\u00fchrt, wie diese durch die Kombination mehrerer monogenetischer Krankheiten bei demselben Individuum zu komplexen Ph\u00e4notypen f\u00fchren kann. Es wird gesch\u00e4tzt, dass etwa 5 % von\u2026 <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/de\/double-trouble-varias-enfermedades-geneticas-en-un-mismo-individuo\/\" class=\"more-link\">Lesen Sie weiter<span class=\"screen-reader-text\"> \u201eDoppelte Belastung. Mehrere genetisch bedingte Erkrankungen bei ein und derselben Person.\u201c<\/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\/de\/wp-json\/wp\/v2\/posts\/2147","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/comments?post=2147"}],"version-history":[{"count":5,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/posts\/2147\/revisions"}],"predecessor-version":[{"id":8468,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/posts\/2147\/revisions\/8468"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/media\/2149"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/media?parent=2147"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/categories?post=2147"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/de\/wp-json\/wp\/v2\/tags?post=2147"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}