{"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\/en\/double-trouble-varias-enfermedades-geneticas-en-un-mismo-individuo\/","title":{"rendered":"Double trouble. Several genetic diseases in the same individual."},"content":{"rendered":"\n

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

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 (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 penetrancia variable, y de transmisi\u00f3n familiar<\/a>.<\/p>\n\n\n\n

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https:\/\/linkinghub.elsevier.com\/retrieve\/pii\/S193152441200299X<\/figcaption><\/figure>\n\n\n
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Beetz C, Bauer P. Dual genetic diagnoses - underappreciated \u201cdouble trouble.\u201d JBCGenetics [Internet]. 2020 [cited 2022 Sept 13];52\u20133. Available from: https:\/\/www.ejmanager.com\/fulltextpdf.php?mno=135141<\/a><\/div>\n <\/div>\n<\/div>\n\t\t\t\t<\/div>\n\t\t\t<\/div>\n\t\t<\/div>\n\t<\/div>\n\n\n","protected":false},"excerpt":{"rendered":"

In the era of massive sequencing, access to the intensive study of the genome has provided a much deeper understanding of genetic variability, and how this can give rise to complex phenotypes from the combination of several monogenetic diseases in the same individual. It is estimated that in approximately 5% of … <\/p>\n

Continue reading \u00abDouble trouble. Several genetic diseases in the same individual.<\/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":5,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2147\/revisions"}],"predecessor-version":[{"id":8468,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/2147\/revisions\/8468"}],"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}]}}