{"id":1778,"date":"2022-08-12T16:59:32","date_gmt":"2022-08-12T16:59:32","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=1778"},"modified":"2022-10-03T08:21:16","modified_gmt":"2022-10-03T08:21:16","slug":"sindromes-de-microdeleccion-y-microduplicacion","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/en\/sindromes-de-microdeleccion-y-microduplicacion\/","title":{"rendered":"Syndromes of microdelecci\u00f3n and microduplication."},"content":{"rendered":"\n<p>En la p\u00e1gina web de <a href=\"https:\/\/www.deciphergenomics.org\/disorders\/syndromes\/list\">Decipher<\/a>, puede consultarse un listado actualizado con todos los s\u00edndromes de microdelecci\u00f3n y microduplicaci\u00f3n.<\/p>\n\n\n\n<p>Cada vez m\u00e1s s\u00edndromes de microduplicaci\u00f3n y microdelecci\u00f3n han ido identific\u00e1ndose a lo largo de los \u00faltimos a\u00f1os, con el uso creciente del aCGH en la investigaci\u00f3n y la pr\u00e1ctica cl\u00ednica. Pueden clasificarse en funci\u00f3n de varios criterios: <\/p>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-77f06130\" class=\"wp-block-themeisle-blocks-accordion\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>Criterio de recurrencia.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-22e41384\" class=\"wp-block-themeisle-blocks-accordion\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>CNV recurrentes<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\"><div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img fetchpriority=\"high\" decoding=\"async\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/08\/imagen-1.png\" alt=\"\" class=\"wp-image-1845\" width=\"474\" height=\"140\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/08\/imagen-1.png 774w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/08\/imagen-1-300x89.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/08\/imagen-1-768x228.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/08\/imagen-1-18x5.png 18w\" sizes=\"(max-width: 474px) 100vw, 474px\" \/><figcaption><div id=\"zotpress-eef450186dfa18702cbf5fdc2ecd7f9e\" 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:MPJDID52}<\/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 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id=\"zp-ID-1778-332710-MPJDID52\" data-zp-author-date='P\u00f6s-et-al.-2021-10-01' data-zp-date-author='2021-10-01-P\u00f6s-et-al.' data-zp-date='2021-10-01' data-zp-year='2021' 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;\">P\u00f6s O, Radvanszky J, Bugly\u00f3 G, P\u00f6s Z, Rusnakova D, Nagy B, et al. DNA copy number variation: Main characteristics, evolutionary significance, and pathological aspects. Biomedical Journal [Internet]. 2021 Oct 1 [cited 2022 Aug 17];44(5):548\u201359. Available from: <a class='zp-ItemURL' href='https:\/\/www.sciencedirect.com\/science\/article\/pii\/S2319417021000093'>https:\/\/www.sciencedirect.com\/science\/article\/pii\/S2319417021000093<\/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<\/div>\n\n\n<ul class=\"wp-block-list\"><li>Est\u00e1n flanqueadas por regiones repetitivas cortas (LCR, low copy repeats), que frecuentemente dan lugar a puntos de ruptura por NAHR (non-allelic homologous recombination). <\/li><li>M\u00faltiples indiv\u00edduos no emparentados comparten los mismos puntos de ruptura. <\/li><li>Suelen ser de novo. <\/li><li>Se presentan con mayor frecuencia a la esperada por la <a href=\"https:\/\/es.wikipedia.org\/wiki\/Tasa_de_mutaci%C3%B3n\">tasa de mutaci\u00f3n<\/a>, por lo que son comparativamente m\u00e1s frecuentes. <\/li><\/ul>\n<\/div><\/details>\n<\/div>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-28642264\" class=\"wp-block-themeisle-blocks-accordion\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>CNV no recurrentes.<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\"><li>Suelen dar lugar a fenotipos m\u00e1s variables. <\/li><li>Tienen puntos de ruptura distintos para cada individuo\/familia, que se han producido de forma aleatoria a lo largo del genoma, dando lugar a la delecci\u00f3n-duplicaci\u00f3n cuando han intervenido los mecanismos de reparaci\u00f3n (NHEJ, non homologous end-joining). <\/li><li>Suelen ser heredadas, por lo que los puntos de ruptura ser\u00e1n caracter\u00edsticos de cada familia. <\/li><li>Existe una regi\u00f3n compartida en todos los indiv\u00edduos con el mismo s\u00edndrome (SRO, smallest region of overlap), que alberga a los genes con repercusi\u00f3n fenot\u00edpica. <\/li><li>Son menos frecuentes. <\/li><\/ul>\n<\/div><\/details>\n<\/div>\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>Criterio de penetrancia<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<div id=\"wp-block-themeisle-blocks-accordion-b12c29d0\" class=\"wp-block-themeisle-blocks-accordion\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>CNV de penetrancia completa<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\"><li>Son s\u00edndromes \u00abcl\u00e1sicos\u00bb, que se describieron a partir de la identificaci\u00f3n del fenotipo cl\u00ednico. <\/li><li>Suelen nombrarse con un ep\u00f3nimo que alude al autor que los describi\u00f3 por primera vez. <\/li><li>Suelen ser \u00abde novo\u00bb, ya que la repercusi\u00f3n que producen sobre los indiv\u00edduos impide su reproducci\u00f3n.<\/li><li>Coloca el rat\u00f3n sobre la imagen para buscar algunos de los distintos s\u00edndromes de microdelecci\u00f3n cl\u00e1sicos. <\/li><\/ul>\n\n\n\n<style>\n\t#hotspot-1820 .hotspots-image-container,\n\t#hotspot-1820 .leaflet-container {\n\t\tbackground: #efefef\t}\n\n\t#hotspot-1820 .hotspots-placeholder {\n\t\tbackground: #2E2D29;\n\t\tborder: 0 #2E2D29 solid;\n\t\tcolor: #DFEBE5;\n\t}\n\n\t#hotspot-1820 .hotspot-title {\n\t\tcolor: #93C7A4;\n\t}\n\n\t\t\t#hotspot-1820 .hotspot-default {\n\t\t\tstroke-width: 2;\n\t\t\tfill: #ffffff;\n\t\t\tfill-opacity: 0;\n\t\t\tstroke: #ffffff;\n\t\t\tstroke-opacity: 0;\n\t\t}\n\t\t#hotspot-1820 .hotspot-default:hover,\n\t\t#hotspot-1820 .hotspot-default:focus-visible,\n\t\t#hotspot-1820 .hotspot-default.hotspot-active {\n\t\t\tfill: #3CA2A2;\n\t\t\tfill-opacity: 0.71;\n\t\t\tstroke: 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class=\"hotspots-map\">\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"84,505,82,486,216,486,217,506\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1407\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Van der Woude syndrome\"\n\t\t\t\t\talt=\"Van der Woude syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"83,313,181,313,182,333,84,332\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK23758\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Trombocitopenia-absent radius\"\n\t\t\t\t\talt=\"Trombocitopenia-absent radius\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"79,1144,171,1144,171,1160,78,1160\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1220\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Tuberous sclerosis\"\n\t\t\t\t\talt=\"Tuberous sclerosis\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"82,1163,185,1162,184,1178,82,1178\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1526\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Rubinstein Taybi syndrome\"\n\t\t\t\t\talt=\"Rubinstein Taybi syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"87,805,226,804,226,819,89,819\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1117\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"CHARGE syndrome\"\n\t\t\t\t\talt=\"CHARGE syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"84,982,187,983,186,1000,84,1000\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK425926\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Langer Gideon syndrome\"\n\t\t\t\t\talt=\"Langer Gideon syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"291,90,386,90,386,104,291,105\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1530\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Holoprosencefalia tipo 2\"\n\t\t\t\t\talt=\"Holoprosencefalia tipo 2\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"292,338,397,336,397,352,293,354\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1412\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Mowat Wilson syndrome\"\n\t\t\t\t\talt=\"Mowat Wilson syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"323,936,440,934,440,949,326,950\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1530\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Holoprosencefalia tipo 7\"\n\t\t\t\t\talt=\"Holoprosencefalia tipo 7\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"304,1120,412,1120,412,1135,303,1133\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK5189\/?report=reader#!po=6.57895\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Miller Dieker syndrome\"\n\t\t\t\t\talt=\"Miller Dieker syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"304,1176,469,1174,469,1189,306,1190\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3994927\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Charcot-Marie-Tooth 1A; Neuropat\u00eda hereditaria con susceptibilidad a las par\u00e1lisis por presi\u00f3n\"\n\t\t\t\t\talt=\"Charcot-Marie-Tooth 1A; Neuropat\u00eda hereditaria con susceptibilidad a las par\u00e1lisis por presi\u00f3n\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"306,1196,458,1195,458,1209,307,1211\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1310\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Smith-Magenis syndrome\"\n\t\t\t\t\talt=\"Smith-Magenis syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"303,1216,390,1215,390,1230,304,1230\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1109\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Neurofibromatosis tipo 1\"\n\t\t\t\t\talt=\"Neurofibromatosis tipo 1\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"304,1385,462,1386,462,1397,304,1397\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1286\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Complejo de Carney\"\n\t\t\t\t\talt=\"Complejo de Carney\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1463\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Von Hipple-Lindau syndrome\"\n\t\t\t\t\talt=\"Von Hipple-Lindau syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"549,1320,666,1320,666,1333,553,1333\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK100240\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Pitt-Hopkins syndrome\"\n\t\t\t\t\talt=\"Pitt-Hopkins syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"755,117,860,117,859,132,757,132\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1183\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Wolf-Hirschhorn syndrome\"\n\t\t\t\t\talt=\"Wolf-Hirschhorn syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"776,698,875,698,876,714,774,714\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1394\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Beckwith-Wiedeman syndrome\"\n\t\t\t\t\talt=\"Beckwith-Wiedeman syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"881,696,918,697,919,714,881,712\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1324\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Silver-Russell syndrome\"\n\t\t\t\t\talt=\"Silver-Russell syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"770,778,881,777,881,795,771,795\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1360\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"S\u00edndrome WAGR\"\n\t\t\t\t\talt=\"S\u00edndrome WAGR\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"770,1032,902,1033,901,1018,769,1018\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2670819\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Jackobsen syndrome\"\n\t\t\t\t\talt=\"Jackobsen syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"771,1348,877,1348,877,1366,772,1364\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK7047\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Diamond Blackfan anemia\"\n\t\t\t\t\talt=\"Diamond Blackfan anemia\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"1012,150,1169,149,1169,165,1012,164\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK482460\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Cri du Chat syndrome\"\n\t\t\t\t\talt=\"Cri du Chat syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"1004,217,1110,218,1110,231,1005,232\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1104\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Cornelia de Lange syndrome\"\n\t\t\t\t\talt=\"Cornelia de Lange syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"1005,307,1107,308,1106,322,1006,322\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1352\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Atrofia muscular espinal\"\n\t\t\t\t\talt=\"Atrofia muscular espinal\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"1006,578,1161,579,1161,596,1007,594\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1479\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Sindrome de Sotos\"\n\t\t\t\t\talt=\"Sindrome de Sotos\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"1017,1264,1134,1265,1134,1280,1018,1279\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1273\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Allagille syndrome\"\n\t\t\t\t\talt=\"Allagille syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"328,1024,381,1024,381,1037,327,1037\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK47079\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Kleefstra syndrome\"\n\t\t\t\t\talt=\"Kleefstra syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"304,1316,431,1315,431,1326,306,1327\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK24676\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Koolen de Vries syndrome\"\n\t\t\t\t\talt=\"Koolen de Vries syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"1521,1363,1572,1363,1572,1376,1521,1376\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1198\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Phelan-McDermid syndrome\"\n\t\t\t\t\talt=\"Phelan-McDermid syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"1821,595,1821,577,1750,577,1750,594\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1497\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Rett syndrome\/MeCP2 related disorders\"\n\t\t\t\t\talt=\"Rett syndrome\/MeCP2 related disorders\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"1524,1290,1679,1290,1679,1304,1525,1303\"\n\t\t\t\t\thref=\"https:\/\/www.omim.org\/entry\/115470\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Cat-Eye syndrome\"\n\t\t\t\t\talt=\"Cat-Eye syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"1523,1327,1584,1327,1585,1342,1522,1342\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1523\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Di George syndrome\"\n\t\t\t\t\talt=\"Di George syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"1518,363,1627,362,1627,377,1519,376\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1249\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Williams-Bleuren syndrome\"\n\t\t\t\t\talt=\"Williams-Bleuren syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"1750,113,1858,113,1856,127,1750,127\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1215\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"L\u00e9ri-Weil disostosis (SHOX)\"\n\t\t\t\t\talt=\"L\u00e9ri-Weil disostosis (SHOX)\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"1747,152,1852,151,1852,163,1749,164\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK448149\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Ictiosis ligada al X (Steroid sulphatase).\"\n\t\t\t\t\talt=\"Ictiosis ligada al X (Steroid sulphatase).\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"1747,167,1841,167,1841,182,1748,181\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC2986064\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Kallman syndrome\"\n\t\t\t\t\talt=\"Kallman syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"1744,802,1745,851,1887,852,1887,803\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1144\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Angelman syndrome\/Prader Willi region\"\n\t\t\t\t\talt=\"Angelman syndrome\/Prader Willi region\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"1893,819,1940,819,1940,855,1892,854\"\n\t\t\t\t\thref=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1330\/\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Prader-Willi syndrome\"\n\t\t\t\t\talt=\"Prader-Willi syndrome\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t\t\t\t\t\t\t<area\n\t\t\t\t\tshape=\"polygon\"\n\t\t\t\t\tcoords=\"1294,1379,1393,1379,1392,1390,1295,1390\"\n\t\t\t\t\thref=\"https:\/\/onlinelibrary.wiley.com\/doi\/10.1002\/mgg3.797\"\n\t\t\t\t\trel=\"\"\n\t\t\t\t\ttitle=\"Down syndrome critical region microduplication (partial trisomy 21)\"\n\t\t\t\t\talt=\"Down syndrome critical region microduplication (partial trisomy 21)\"\n\t\t\t\t\tdata-action=\"url\"\n\t\t\t\t\tdata-color-scheme=\"\"\n\t\t\t\t\ttarget=\"_new\"\n\t\t\t\t\tclass=\"url-area\"\n\t\t\t\t\t>\n\t\t\t\t\t<\/map>\n\n\t\t\n\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t\t<\/div>\n\n\n<\/div><\/details>\n<\/div>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-75808096\" class=\"wp-block-themeisle-blocks-accordion\">\n<details class=\"wp-block-themeisle-blocks-accordion-item\"><summary class=\"wp-block-themeisle-blocks-accordion-item__title\"><div>CNV de penetrancia incompleta<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<ul class=\"wp-block-list\"><li>Suelen nombrarse con la regi\u00f3n cromos\u00f3mica a la que afectan. <\/li><li>Son s\u00edndromes \u00abnuevos\u00bb, identificados con m\u00e1s frecuencia a partir de la implementaci\u00f3n de t\u00e9cnicas de diagn\u00f3stico molecular (aCGH). <\/li><\/ul>\n\n\n\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/08\/image-5.png\" alt=\"\" class=\"wp-image-1843\" width=\"493\" height=\"349\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/08\/image-5.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/08\/image-5-300x212.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/08\/image-5-768x544.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/08\/image-5-18x12.png 18w\" sizes=\"(max-width: 493px) 100vw, 493px\" \/><figcaption><div id=\"zotpress-03fb16c547d4d2f53d7c25f30f4a333b\" 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:NMUC7JC9}<\/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 class=\"ZP_SHOWTAGS ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_DOWNLOADABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_NOTES ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_ABSTRACT ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_CITEABLE ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_TARGET ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_URLWRAP ZP_ATTR\"><\/span>\n\t\t<span class=\"ZP_FORCENUM ZP_ATTR\"><\/span>\n        <span class=\"ZP_HIGHLIGHT ZP_ATTR\"><\/span>\n        <span class=\"ZP_POSTID ZP_ATTR\">1778<\/span>\n\t\t<span class=\"ZOTPRESS_PLUGIN_URL ZP_ATTR\">https:\/\/neuropediatoolkit.org\/wp-content\/plugins\/zotpress\/<\/span>\n\n\t\t<div class=\"zp-List loading\">\n\t\t\t<div class=\"zp-SEO-Content\">\n\t\t\t\t<span class=\"ZP_JSON 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%22NMUC7JC9%22%2C%22library%22%3A%7B%22id%22%3A332710%7D%2C%22meta%22%3A%7B%22creatorSummary%22%3A%22Rosenfeld%20et%20al.%22%2C%22parsedDate%22%3A%222013%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%3BRosenfeld%20JA%2C%20Coe%20BP%2C%20Eichler%20EE%2C%20Cuckle%20H%2C%20Shaffer%20LG.%20Estimates%20of%20penetrance%20for%20recurrent%20pathogenic%20copy-number%20variations.%20Genetics%20in%20Medicine%20%5BInternet%5D.%202013%20%5Bcited%202018%20July%2016%5D%3B15%286%29%3A478%26%23x2013%3B81.%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.nature.com%5C%2Farticles%5C%2Fgim2012164%26%23039%3B%26gt%3Bhttp%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fgim2012164%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%22Estimates%20of%20penetrance%20for%20recurrent%20pathogenic%20copy-number%20variations%22%2C%22creators%22%3A%5B%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Jill%20A.%22%2C%22lastName%22%3A%22Rosenfeld%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Bradley%20P.%22%2C%22lastName%22%3A%22Coe%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Evan%20E.%22%2C%22lastName%22%3A%22Eichler%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Howard%22%2C%22lastName%22%3A%22Cuckle%22%7D%2C%7B%22creatorType%22%3A%22author%22%2C%22firstName%22%3A%22Lisa%20G.%22%2C%22lastName%22%3A%22Shaffer%22%7D%5D%2C%22abstractNote%22%3A%22%22%2C%22date%22%3A%226%5C%2F2013%22%2C%22section%22%3A%22%22%2C%22partNumber%22%3A%22%22%2C%22partTitle%22%3A%22%22%2C%22DOI%22%3A%2210.1038%5C%2Fgim.2012.164%22%2C%22citationKey%22%3A%22%22%2C%22url%22%3A%22http%3A%5C%2F%5C%2Fwww.nature.com%5C%2Farticles%5C%2Fgim2012164%22%2C%22PMID%22%3A%22%22%2C%22PMCID%22%3A%22%22%2C%22ISSN%22%3A%221098-3600%2C%201530-0366%22%2C%22language%22%3A%22en%22%2C%22collections%22%3A%5B%228QKYZ76G%22%2C%22X4RCMSQI%22%5D%2C%22dateModified%22%3A%222025-11-09T21%3A09%3A53Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t<div id=\"zp-ID-1778-332710-NMUC7JC9\" data-zp-author-date='Rosenfeld-et-al.-2013' data-zp-date-author='2013-Rosenfeld-et-al.' data-zp-date='2013' data-zp-year='2013' 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;\">Rosenfeld JA, Coe BP, Eichler EE, Cuckle H, Shaffer LG. Estimates of penetrance for recurrent pathogenic copy-number variations. Genetics in Medicine [Internet]. 2013 [cited 2018 July 16];15(6):478\u201381. Available from: <a class='zp-ItemURL' href='http:\/\/www.nature.com\/articles\/gim2012164'>http:\/\/www.nature.com\/articles\/gim2012164<\/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<ul class=\"wp-block-list\"><li>Tienen penetrancia incompleta, por lo que hay indiv\u00edduos portadores asintom\u00e1ticos, y se produce con mayor frecuencia la transmisi\u00f3n familiar desde un indiv\u00edduo que no era consciente de su condici\u00f3n.<\/li><li>Adem\u00e1s, es m\u00e1s frecuente que se produzca la coexistencia de m\u00faltiples variantes patog\u00e9nicas en el mismo indiv\u00edduo.<\/li><\/ul>\n\n\n\n<figure class=\"wp-block-image size-large is-resized\"><img decoding=\"async\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-5-1024x841.png\" alt=\"\" class=\"wp-image-2872\" width=\"578\" height=\"474\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-5-1024x841.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-5-300x246.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-5-768x631.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-5-15x12.png 15w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-5.png 1536w\" sizes=\"(max-width: 578px) 100vw, 578px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-large is-resized\"><img loading=\"lazy\" decoding=\"async\" src=\"http:\/\/neuropediaclinic.com\/wp-content\/uploads\/2022\/10\/imagen-6-1024x475.png\" alt=\"\" class=\"wp-image-2874\" width=\"576\" height=\"267\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-6-1024x475.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-6-300x139.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-6-768x357.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-6-18x8.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-6.png 1536w\" sizes=\"(max-width: 576px) 100vw, 576px\" \/><figcaption>https:\/\/www.nejm.org\/doi\/full\/10.1056\/nejmoa1200395<\/figcaption><\/figure>\n<\/div><\/details>\n<\/div>\n<\/div><\/details>\n<\/div>\n\n\n\n<p><\/p>\n","protected":false},"excerpt":{"rendered":"<p>En la p\u00e1gina web de Decipher, puede consultarse un listado actualizado con todos los s\u00edndromes de microdelecci\u00f3n y microduplicaci\u00f3n. Cada vez m\u00e1s s\u00edndromes de microduplicaci\u00f3n y microdelecci\u00f3n han ido identific\u00e1ndose a lo largo de los \u00faltimos a\u00f1os, con el uso creciente del aCGH en la investigaci\u00f3n y la pr\u00e1ctica cl\u00ednica. Pueden clasificarse en funci\u00f3n de &hellip; <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/en\/sindromes-de-microdeleccion-y-microduplicacion\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> \u00abS\u00edndromes de microdelecci\u00f3n y microduplicaci\u00f3n.\u00bb<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":1815,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_themeisle_gutenberg_block_has_review":false,"footnotes":""},"categories":[10],"tags":[],"class_list":["post-1778","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/1778","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=1778"}],"version-history":[{"count":0,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/1778\/revisions"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media\/1815"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/media?parent=1778"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/categories?post=1778"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/tags?post=1778"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}