{"id":4830,"date":"2023-03-03T22:22:11","date_gmt":"2023-03-03T22:22:11","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=4830"},"modified":"2023-12-30T07:51:45","modified_gmt":"2023-12-30T07:51:45","slug":"cuando-sospechar-una-enfermedad-genetica","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/cuando-sospechar-una-enfermedad-genetica\/","title":{"rendered":"When to suspect a genetic disease?"},"content":{"rendered":"\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"500\" height=\"348\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2023\/03\/image-1.png\" alt=\"\" class=\"wp-image-4831\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/03\/image-1.png 500w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/03\/image-1-300x209.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2023\/03\/image-1-18x12.png 18w\" sizes=\"(max-width: 500px) 100vw, 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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%22AT5JWB5Q%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Solomon%20and%20Muenke%22%2C%22parsedDate%22%3A%222012%22%2C%22numChildren%22%3A0%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%3BSolomon%20BD%2C%20Muenke%20M.%20When%20to%20Suspect%20a%20Genetic%20Syndrome.%20American%20family%20physician%20%5BInternet%5D.%202012%20%5Bcited%202016%20June%2027%5D%3B86%289%29%3A826.%20Available%20from%3A%20%26lt%3Ba%20class%3D%26%23039%3Bzp-ItemURL%26%23039%3B%20href%3D%26%23039%3Bhttp%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4131944%5C%2F%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4131944%5C%2F%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%22When%20to%20Suspect%20a%20Genetic%20Syndrome%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Benjamin%20D.%22%2C%22lastName%22%3A%22Solomon%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Maximilian%22%2C%22lastName%22%3A%22Muenke%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%222012%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%22%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.ncbi.nlm.nih.gov%5C%2Fpmc%5C%2Farticles%5C%2FPMC4131944%5C%2F%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%22%22%2C%22language%22%3A%22%22%2C%22collections%22%3A%5B%223ITHA8FF%22%5D%2C%22dateModified%22%3A%222025-09-27T21%3A18%3A06Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t<div id=\"zp-ID-4830-332710-AT5JWB5Q\" data-zp-author-date='Solomon-and-Muenke-2012' data-zp-date-author='2012-Solomon-and-Muenke' data-zp-date='2012' data-zp-year='2012' 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;\">Solomon BD, Muenke M. When to Suspect a Genetic Syndrome. American family physician [Internet]. 2012 [cited 2016 June 27];86(9):826. Available from: <a class='zp-ItemURL' href='http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4131944\/'>http:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC4131944\/<\/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<\/figcaption><\/figure>\n\n\n\n<p>La sospecha diagn\u00f3stica se basa en 3 pilares: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/neuropediatoolkit.org\/exploracion-dismorfologica\/\">S\u00edntomas dismorfol\u00f3gicos.<\/a> Patrones reconocibles de malformaciones menores (gestalt). <\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/trastornos-del-neurodesarrollo\/\">Problemas de neurodesarrollo.<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/patrones-de-herencia\/\">Antecedentes familiares. <\/a>A tener en cuenta que no es un criterio sine-qua-non, y que \u00faltimamente est\u00e1n cobrando mucha importancia las enfermedades gen\u00e9ticas por <a href=\"http:\/\/neuropediatoolkit.org\/mutaciones-de-novo\/\">mutaci\u00f3n \u00abde novo\u00bb<\/a>.<\/li>\n<\/ul>\n\n\n\n<p>Existen varias estrategias diagn\u00f3sticas, que pueden agruparse en:<\/p>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-7e1b1b84\" class=\"wp-block-themeisle-blocks-accordion exclusive\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Pruebas no dirigidas. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Son aquellas en las que vamos a interrogar todo el genoma, tambi\u00e9n se conocen como pruebas gen\u00f3micas. No es necesario tener una sospecha sindr\u00f3mica concreta para indicarlas, aunque algunas enfermedades gen\u00f3micas son diagnosticables por el fenotipo (como el s\u00edndrome de Down). <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/neuropediatoolkit.org\/criterios-de-realizacion-de-acgh\/\">aCGH. \u00bfDebo realizarle un aCGH a mi paciente?<\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/predwes\/\">Secuenciaci\u00f3n del exoma. \u00bfDebo realizarle un exoma a mi paciente?. <\/a><\/li>\n\n\n\n<li><a href=\"http:\/\/neuropediatoolkit.org\/cariotipo-en-la-era-del-acgh\/\">Cariotipo. \u00bfSigue siendo \u00fatil en la era del aCGH?<\/a><\/li>\n<\/ul>\n<\/div><\/details>\n\n\n\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Pruebas dirigidas. <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>Son aquellas que buscan la identificaci\u00f3n de una enfermedad en concreto, habitualmente una <a href=\"https:\/\/es.wikipedia.org\/wiki\/Enfermedad_hereditaria\">enfermedad monogen\u00e9tica<\/a> (que se produce por mutaci\u00f3n de 1 s\u00f3lo gen), cuando <a href=\"http:\/\/neuropediatoolkit.org\/trastornos-del-neurodesarrollo-sindromicos-claves-para-el-diagnostico\/\">a trav\u00e9s del fenotipo ya puede orientarse el cuadro cl\u00ednico<\/a>, o bien porque por la naturaleza de la enfermedad, no puede detectarse a trav\u00e9s de pruebas no dirigidas. Por ejemplo: <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"http:\/\/neuropediatoolkit.org\/neurofibromatosis-tipo-1\/\">Neurofibromatosis tipo I. <\/a><\/li>\n\n\n\n<li>X-fragil. No puede detectase por aCGH ni por secuenciaci\u00f3n masiva, por tratarse de una enfermedad por STR. <\/li>\n<\/ul>\n<\/div><\/details>\n<\/div>\n","protected":false},"excerpt":{"rendered":"<p>La sospecha diagn\u00f3stica se basa en 3 pilares: Existen varias estrategias diagn\u00f3sticas, que pueden agruparse en:<\/p>","protected":false},"author":1,"featured_media":4831,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[22,25],"tags":[],"class_list":["post-4830","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-exploracion-morfologica","category-fenotipado","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/4830","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=4830"}],"version-history":[{"count":11,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/4830\/revisions"}],"predecessor-version":[{"id":7113,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/4830\/revisions\/7113"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/4831"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=4830"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=4830"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=4830"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}