{"id":2810,"date":"2022-10-01T21:23:37","date_gmt":"2022-10-01T21:23:37","guid":{"rendered":"https:\/\/neuropediatoolbox.org\/?p=2810"},"modified":"2026-06-22T16:50:37","modified_gmt":"2026-06-22T16:50:37","slug":"estirando-de-la-cuerda-cuando-el-diagnostico-no-llega-a-la-primera","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/zh\/estirando-de-la-cuerda-cuando-el-diagnostico-no-llega-a-la-primera\/","title":{"rendered":"\u62c9\u4f38\u7ef3\u5b50\u3002\u5f53\u8bca\u65ad\u4e0d\u662f\u7b2c\u4e00\u6b21\u51fa\u73b0\u65f6\u3002"},"content":{"rendered":"<p>\u6211\u4eec\u6b63\u5728\u8bc4\u4f30\u4e00\u540d\u60a3\u6709\u795e\u7ecf\u53d1\u80b2\u969c\u788d\u7684\u513f\u7ae5\uff0c\u6211\u4eec\u6000\u7591\u5176\u5b58\u5728\u9057\u4f20\u539f\u56e0\uff0c\u56e0\u4e3a\u4ed6\u63d0\u4f9b\u4e86\u8fd9\u65b9\u9762\u7684\u63d0\u793a\u6027\u6570\u636e\uff08\u4f8b\u5982\uff0c\u591a\u79cd\u76f8\u5173\u7684\u5148\u5929\u7578\u5f62\uff09\u3002\u6211\u4eec\u505a\u4e86\u4e00\u4e2a <a href=\"http:\/\/neuropediatoolkit.org\/zh\/criterios-de-realizacion-de-acgh\/\">\u5fc3\u8111\u8840\u7ba1\u75c5<\/a> \u4e8b\u5b9e\u8bc1\u660e\u8fd9\u662f\u6b63\u5e38\u7684\u3002\u6211\u4eec\u8fd8\u5f00\u5c55\u4e86 <a href=\"http:\/\/neuropediatoolkit.org\/zh\/tecnicas-de-secuenciacion-masiva\/\">\u4e34\u5e8a\u5916\u663e\u5b50\u7ec4\uff08\u8111\u9ad3\u7624\uff09<\/a> \u5c1a\u672a\u5411\u6211\u4eec\u63d0\u4f9b\u51b3\u5b9a\u6027\u4fe1\u606f\u3002\u6211\u4eec\u4ece\u54ea\u91cc\u7ee7\u7eed\uff1f<\/p>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-8b346215\" 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>\u91cd\u65b0\u8bc4\u4f30\u4e0d\u786e\u5b9a\u542b\u4e49\u7684\u53d8\u4f53\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"http:\/\/neuropediatoolkit.org\/zh\/evaluacion-de-las-variantes-de-significado-incierto-vsi\/\">\u53ef\u80fd\u6709\u53ef\u80fd\u5bf9\u5b83\u4eec\u8fdb\u884c\u91cd\u65b0\u5206\u7c7b\uff0c\u8bf7\u67e5\u770b\u76f8\u5173\u6307\u5357\u3002<\/a><\/p>\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>\u67e5\u770b\u57fa\u56e0\u7814\u7a76\u9644\u5f55\u4ee5\u83b7\u53d6\u76f8\u5173\u4fe1\u606f\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u9057\u4f20\u5b66\u5bb6\u53ef\u80fd\u5df2\u7ecf\u9274\u5b9a\u51fa\u81f4\u75c5\u6027\u53d8\u5f02 <strong>\u9690\u6027\u57fa\u56e0<\/strong>\uff0c\u8fd9\u4e0e\u60a8\u7684\u4e34\u5e8a\u6000\u7591\u76f8\u7b26\uff0c\u4f46\u7531\u4e8e\u672a\u53d1\u73b0\u7b2c\u4e8c\u4e2a\u81f4\u75c5\u53d8\u5f02\uff0c\u56e0\u6b64\u6b63\u6587\u4e2d\u5c1a\u672a\u62a5\u544a\u3002\u5982\u679c\u8868\u578b\u4e0e\u4e34\u5e8a\u6000\u7591\u4e00\u81f4\uff0c\u60a8\u53ef\u80fd\u9700\u8981\u8fdb\u4e00\u6b65\u8c03\u67e5\uff1a <\/p>\n\n\n\n<div id=\"wp-block-themeisle-blocks-accordion-3bf037a1\" 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>\u786e\u4fdd\u5176\u4ed6\u7b49\u4f4d\u57fa\u56e0\u4e0a\u4e0d\u5b58\u5728\u4e0d\u786e\u5b9a\u610f\u4e49\u7684\u53d8\u5f02\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u4e3a\u4e86\u8bc1\u5b9e\u8fd9\u4e00\u70b9\uff0c\u6709\u5fc5\u8981\u5bf9\u7236\u6bcd\u53cc\u65b9\u8fdb\u884c\u540c\u9694\u79bb\u7814\u7a76\u3002\u5982\u679c\u8fd9\u4e24\u79cd\u53d8\u5f02\u90fd\u5728\u53cd\u5f0f\u4e2d\u88ab\u53d1\u73b0\uff0c\u4f60\u7684\u53ef\u7591\u8bca\u65ad\u5c31\u4f1a\u5f97\u5230\u52a0\u5f3a\u3002 <\/p>\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>\u68c0\u67e5\u751f\u7269\u6807\u5fd7\u7269\u7684\u5b58\u5728\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u5982\u679c\u5e38\u67d3\u8272\u4f53\u9690\u6027\u57fa\u56e0\u6709 <a href=\"http:\/\/neuropediatoolkit.org\/zh\/vademecum-metabolicum\/\">\u751f\u7269\u6807\u5fd7\u7269<\/a> \u8fdb\u884c\u6709\u9488\u5bf9\u6027\u7684\u7814\u7a76\uff08\u9176\u5b66\u3001\u751f\u5316\uff09\u53ef\u80fd\u662f\u4e00\u79cd\u6709\u6548\u7684\u7b56\u7565\uff0c\u5982\u679c\u68c0\u6d4b\u5230\u5f02\u5e38\uff0c\u5219\u8fdb\u884c\u66f4\u590d\u6742\u7684\u8bca\u65ad\u6d4b\u8bd5\uff08RNA \u6d4b\u5e8f\uff09\u4ee5\u5bfb\u627e\u6df1\u5c42\u5185\u542b\u5b50\u7a81\u53d8\u3002 <\/p>\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>\u8003\u8651\u5bf9\u53d7\u5f71\u54cd\u7684\u57fa\u56e0\u8fdb\u884c MLPA \u7684\u53ef\u80fd\u6027\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u53ef\u4ee5\u7ec4\u5408\u51e0\u79cd\u7a81\u53d8\u673a\u5236\uff08<a href=\"https:\/\/en.wikipedia.org\/wiki\/Compound_heterozygosity\">\u590d\u5408\u6742\u5408\u6027<\/a>\uff09\uff0c\u8bf7\u8bb0\u4f4f <a href=\"http:\/\/neuropediatoolkit.org\/zh\/delecciones-intragenicas-exon-level-deletions\/\">\u5c0f\u5c3a\u5bf8\u7f3a\u5931<\/a> \u5b83\u4eec\u53ef\u80fd\u5728\u4e24\u9879\u6d4b\u8bd5\uff08\u5916\u663e\u5b50\u7ec4\u548c aCGH\uff09\u4e2d\u90fd\u672a\u88ab\u68c0\u6d4b\u5230\u3002 <\/p>\n\n\n\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"685\" height=\"499\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-29.png\" alt=\"\" class=\"wp-image-2815\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-29.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-29-300x219.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-29-16x12.png 16w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><figcaption>https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-021-01053-3<\/figcaption><\/figure>\n\n\n\n<p><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3759716\/\">https:\/\/www.ncbi.nlm.nih.gov\/pmc\/articles\/PMC3759716\/<\/a><\/p>\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>\u68c0\u67e5\u662f\u5426\u662f\u6d4b\u5e8f\u65e0\u6cd5\u8bca\u65ad\u7684\u75be\u75c5\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u6709\u4e00\u4e9b <a href=\"http:\/\/neuropediatoolkit.org\/zh\/enfermedades-no-diagnosticables-por-secuenciacion\/\">\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\u65e0\u6cd5\u8bca\u65ad\u7684\u9057\u4f20\u75c5<\/a> \u4ee5\u76ee\u524d\u53ef\u7528\u7684\u6280\u672f\u3002\u5982\u679c\u8868\u578b\u4e0e\u5176\u4e2d\u4efb\u4f55\u4e00\u4e2a\u517c\u5bb9\uff0c\u5219\u53ef\u80fd\u9700\u8981\u8bf7\u6c42\u7279\u5b9a\u7684\u8bca\u65ad\u6d4b\u8bd5\u3002 <\/p>\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>\u4e0d\u65f6\u91cd\u65b0\u8bc4\u4f30\u8868\u578b\u4ee5\u5bfb\u627e\u65b0\u7684\u6307\u5bfc\u75c7\u72b6\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u4f60\u53ef\u4ee5\u5c1d\u8bd5 <a href=\"http:\/\/neuropediatoolkit.org\/zh\/human-phenotype-ontology\/\">\u5b8c\u5584\u60a8\u7684\u8868\u578b\u63cf\u8ff0<\/a> \u4f7f\u7528 HPO \u4ee3\u7801\u3002\u901a\u8fc7\u8fd9\u79cd\u65b9\u5f0f\uff0c\u60a8\u5c06\u6709\u52a9\u4e8e\u9057\u4f20\u5b66\u5bb6\u5e94\u7528\u8ba1\u7b97\u673a\u8fc7\u6ee4\u5668\u6765\u91cd\u65b0\u5206\u6790\u6570\u636e\u3002<\/p>\n\n\n\n<p>\u901a\u8fc7 HPO \u4ee3\u7801\u8fdb\u884c\u8868\u578b\u63cf\u8ff0\uff0c\u60a8\u53ef\u4ee5\u4f7f\u7528\u8ba1\u7b97\u673a\u9274\u522b\u8bca\u65ad\u5de5\u5177\uff0c\u4f8b\u5982 <a href=\"http:\/\/neuropediatoolkit.org\/zh\/phenomyzer\/\">\u82ac\u8bfa\u7c73\u6cfd\u5c14<\/a>.<\/p>\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>\u5982\u679c\u60a8\u7684\u9057\u4f20\u5b66\u5bb6\u6ca1\u6709\u81ea\u52a8\u5206\u6790\u539f\u59cb\u6d4b\u5e8f\u6570\u636e\uff0c\u8bf7\u8981\u6c42\u4ed6\u4eec\u5728 2-5 \u5e74\u540e\u91cd\u65b0\u5206\u6790\u3002 <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u6709\u591a\u4e2a\u79d1\u5b66\u51fa\u7248\u7269\u8868\u660e\uff0c\u901a\u8fc7\u5728\u5b8c\u6210\u540e 12-24 \u4e2a\u6708\u91cd\u65b0\u5206\u6790\u6d4b\u5e8f\u6570\u636e\uff0c\u8bca\u65ad\u76c8\u5229\u80fd\u529b\u63d0\u9ad8\u4e86 10-15%\u3002\u8fd9\u662f\u79d1\u5b66\u77e5\u8bc6\u5feb\u901f\u79ef\u7d2f\u7684\u7ed3\u679c\uff1a <\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u65b0\u81f4\u75c5\u57fa\u56e0\u7684\u53d1\u73b0\u3002<\/li><li>\u6f84\u6e05\u5148\u524d\u672a\u6d89\u53ca\u75be\u75c5\u7684\u53d8\u5f02\u4f53\u7684\u81f4\u75c5\u6027\u3002<\/li><li>\u53c2\u8003\u57fa\u56e0\u7ec4\u4e2d\u7fa4\u4f53\u53d8\u5f02\u7684\u7ec6\u5316\uff08<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/grc\">\u57fa\u56e0\u7ec4\u53c2\u8003\u8054\u76df<\/a>). <\/li><li>\u5728\u5176\u4ed6\u5bb6\u5ead\u4e2d\u8fdb\u884c\u7684\u540c\u9694\u79bb\u7814\u7a76\u3002 <\/li><li>\u8fc7\u6ee4\u5668\u5728\u751f\u7269\u4fe1\u606f\u6570\u636e\u5904\u7406\u4e2d\u5e94\u7528\u7684\u6280\u672f\u6539\u8fdb\uff08\u4f8b\u5982\uff0c\u4ece\u6d4b\u5e8f\u6570\u636e\u8fdb\u884cCNV\u7814\u7a76\uff09\u3002<\/li><\/ul>\n\n\n\n<figure class=\"wp-block-image size-large\"><img decoding=\"async\" width=\"624\" height=\"1024\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-36-624x1024.png\" alt=\"\" class=\"wp-image-2914\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-36-624x1024.png 624w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-36-183x300.png 183w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-36-768x1260.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-36-7x12.png 7w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/image-36.png 800w\" sizes=\"(max-width: 624px) 100vw, 624px\" \/><figcaption>https:\/\/www.nejm.org\/doi\/full\/10.1056\/NEJMc1812033<\/figcaption><\/figure>\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>\u8003\u8651\u8fdb\u884c\u4e09\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f\uff08\u7814\u7a76\uff09\u7684\u53ef\u80fd\u6027\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u8fd9 <a href=\"http:\/\/neuropediatoolkit.org\/zh\/tecnicas-de-secuenciacion-masiva\/\">\u4e09\u5916\u663e\u5b50\u7ec4\u6d4b\u5e8f<\/a> \uff08\u7d22\u5f15\u6848\u4f8b\uff0c\u7236\u4eb2\uff0c\u6bcd\u4eb2\uff09\u5141\u8bb8\u4ea4\u53c9\u4eb2\u5c5e\u7684\u6570\u636e\uff0c\u4ee5\u5e94\u7528\u8fc7\u6ee4\u5668\u6d88\u9664\u5df2\u9057\u4f20\u7684\u7f55\u89c1\u9057\u4f20\u53d8\u5f02\uff0c\u5bfb\u627e\u5c1a\u672a\u5b8c\u5168\u7814\u7a76\u7684\u57fa\u56e0\u4e2d\u7684\u4ece\u5934\u53d8\u5f02\uff0c\u8fd9\u4e9b\u53d8\u5f02\u53ef\u80fd\u662f\u89e3\u91ca\u8868\u578b\u7684\u5019\u9009\u8005\u3002\u5f53\u5b83\u5728\u7814\u7a76\u9879\u76ee\u4e2d\u7cfb\u7edf\u5e94\u7528\u65f6\uff0c\u8fd9\u79cd\u6280\u672f\u5c31\u4f1a\u53d1\u6325\u51fa\u6700\u5927\u7684\u6f5c\u529b\uff0c\u56e0\u4e3a\u5b83\u4f7f\u6211\u4eec\u80fd\u591f\u53d1\u73b0\u4e0e\u75be\u75c5\u6709\u5173\u7684\u65b0\u57fa\u56e0\uff0c\u5e76\u901a\u8fc7\u5b9e\u9a8c\u6280\u672f\u8bc1\u660e\u5b83\u4eec\u7684\u81f4\u75c5\u6027\u3002<\/p>\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>\u4e0e\u5176\u4ed6\u4e13\u4e1a\u4eba\u58eb\u4e00\u8d77\u5f00\u59cb\u7f51\u7edc\u8c03\u67e5\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u8fd9 <a href=\"https:\/\/undiagnosed.hms.harvard.edu\/\">\u672a\u786e\u8bca\u75be\u75c5\u7f51\u7edc<\/a> \u662f\u4e00\u4e2a\u9488\u5bf9\u672a\u7ecf\u8bca\u65ad\u7684\u75be\u75c5\u7684\u7814\u7a76\u7f51\u7edc\uff0c\u6765\u81ea\u591a\u4e2a\u56fd\u5bb6\u7684\u4e13\u4e1a\u4eba\u5458\u53c2\u4e0e\u5176\u4e2d\uff0c\u5e76\u5145\u5f53\u7f55\u89c1\u75be\u75c5\u7814\u7a76\u7684\u4fc3\u8fdb\u8005\u3002\u6709\u4e00\u4e2a\u897f\u73ed\u7259\u603b\u90e8\u4f9d\u8d56\u4e8eISCIII\uff0c\u5b83\u88ab\u79f0\u4e3a <a href=\"https:\/\/spainudp.isciii.es\/\">\u897f\u73ed\u7259UDP<\/a>.<\/p>\n<\/div><\/details>\n<\/div>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"685\" height=\"381\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-9.png\" alt=\"\" class=\"wp-image-2899\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-9.png 685w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-9-300x167.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2022\/10\/imagen-9-18x10.png 18w\" sizes=\"(max-width: 685px) 100vw, 685px\" \/><figcaption><div id=\"zotpress-eca8dff9e83e8e99465406c391ac25b2\" 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:FTGW32SA}<\/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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class=\"zp-SEO-Content\">\n\n\t\t\t<\/div><!-- .zp-zp-SEO-Content -->\n\t\t<\/div><!-- .zp-List -->\n\t<\/div><!--.zp-Zotpress-->\n\n<\/figcaption><\/figure>","protected":false},"excerpt":{"rendered":"<p>Nos encontramos evaluando a un ni\u00f1o con un trastorno del neurodesarrollo, en el que sospechamos la existencia de una causa gen\u00e9tica porque presenta datos sugerentes al respecto (malformaciones cong\u00e9nitas m\u00faltiples asociadas, por ejemplo). Hemos realizado un aCGH que ha resultado ser normal. Tambi\u00e9n hemos realizado un exoma cl\u00ednico (mendelioma) que no nos ha aportado informaci\u00f3n &hellip; <\/p>\n<p class=\"link-more\"><a href=\"https:\/\/neuropediatoolkit.org\/zh\/estirando-de-la-cuerda-cuando-el-diagnostico-no-llega-a-la-primera\/\" class=\"more-link\">Continue reading<span class=\"screen-reader-text\"> \u00abEstirando de la cuerda. 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