{"id":1778,"date":"2022-08-12T16:59:32","date_gmt":"2022-08-12T16:59:32","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=1778"},"modified":"2026-06-22T20:07:38","modified_gmt":"2026-06-22T20:07:38","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=\"https:\/\/neuropediatoolkit.org\/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-572831abd1bf747d95c7b5aed272c8cb\" 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:RKQJI573}<\/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-1778-19955111-RKQJI573\" 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=\"https:\/\/neuropediatoolkit.org\/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-59c647d7436d34426d0408b050c6be3e\" 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:R7KF7QZ2}<\/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%22R7KF7QZ2%22%2C%22library%22%3A%7B%22id%22%3A19955111%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%22Purpose%3AAlthough%20an%20increasing%20number%20of%20copy-number%20variations%20are%20being%20identified%20as%20susceptibility%20loci%20for%20a%20variety%20of%20pediatric%20diseases%2C%20the%20penetrance%20of%20these%20copy-number%20variations%20remains%20mostly%20unknown.%20This%20poses%20challenges%20for%20counseling%2C%20both%20for%20recurrence%20risks%20and%20prenatal%20diagnosis.%20We%20sought%20to%20provide%20empiric%20estimates%20for%20penetrance%20for%20some%20of%20these%20recurrent%2C%20disease-susceptibility%20loci.Methods%3AWe%20conducted%20a%20Bayesian%20analysis%2C%20based%20on%20the%20copy-number%20variation%20frequencies%20in%20control%20populations%20%28n%20%3D%2022%2C246%29%20and%20in%20our%20database%20of%20%26gt%3B48%2C000%20postnatal%20microarray-based%20comparative%20genomic%20hybridization%20samples.%20The%20background%20risk%20for%20congenital%20anomalies%5C%2Fdevelopmental%20delay%5C%2Fintellectual%20disability%20was%20assumed%20to%20be%20~5%25.%20Copy-number%20variations%20studied%20were%201q21.1%20proximal%20duplications%2C%201q21.1%20distal%20deletions%20and%20duplications%2C%2015q11.2%20deletions%2C%2016p13.11%20deletions%2C%2016p12.1%20deletions%2C%2016p11.2%20proximal%20and%20distal%20deletions%20and%20duplications%2C%2017q12%20deletions%20and%20duplications%2C%20and%2022q11.21%20duplications.Results%3AEstimates%20for%20the%20risk%20of%20an%20abnormal%20phenotype%20ranged%20from%2010.4%25%20for%2015q11.2%20deletions%20to%2062.4%25%20for%20distal%2016p11.2%20deletions.Conclusion%3AThis%20model%20can%20be%20used%20to%20provide%20more%20precise%20estimates%20for%20the%20chance%20of%20an%20abnormal%20phenotype%20for%20many%20copy-number%20variations%20encountered%20in%20the%20prenatal%20setting.%20By%20providing%20the%20penetrance%2C%20additional%2C%20critical%20information%20can%20be%20given%20to%20prospective%20parents%20in%20the%20genetic%20counseling%20session.Genet%20Med%202013%3A15%286%29%3A478%5Cu2013481%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%22CU78DF4L%22%2C%22E6YUZPP3%22%5D%2C%22dateModified%22%3A%222026-07-15T22%3A38%3A56Z%22%7D%7D%5D%7D<\/span>\n\n\t\t\t\t<div id=\"zp-ID-1778-19955111-R7KF7QZ2\" 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=\"https:\/\/neuropediatoolkit.org\/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=\"https:\/\/neuropediatoolkit.org\/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>On the Decipher website, an updated list of all microdeletion and microduplication syndromes can be consulted. More and more microduplication and microdeletion syndromes have been identified over the last few years, with the growing use of aCGH in research and clinical practice. They can be classified based on &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\"> \u00abMicrodeletion and microduplication syndromes.\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":3,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/1778\/revisions"}],"predecessor-version":[{"id":8475,"href":"https:\/\/neuropediatoolkit.org\/en\/wp-json\/wp\/v2\/posts\/1778\/revisions\/8475"}],"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}]}}