{"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\/ja\/estirando-de-la-cuerda-cuando-el-diagnostico-no-llega-a-la-primera\/","title":{"rendered":"\u30ed\u30fc\u30d7\u3092\u4f38\u3070\u3059\u3002\u521d\u3081\u3066\u8a3a\u65ad\u304c\u4e0b\u308a\u306a\u304b\u3063\u305f\u3068\u304d\u3002"},"content":{"rendered":"<p>\u79c1\u305f\u3061\u306f\u3001\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u306e\u3042\u308b\u5b50\u4f9b\u3092\u8a55\u4fa1\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u306e\u70b9\u306b\u95a2\u3057\u3066\u793a\u5506\u7684\u306a\u30c7\u30fc\u30bf (\u305f\u3068\u3048\u3070\u3001\u8907\u6570\u306e\u95a2\u9023\u5148\u5929\u5947\u5f62) \u304c\u63d0\u793a\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u907a\u4f1d\u7684\u539f\u56e0\u306e\u5b58\u5728\u304c\u7591\u308f\u308c\u307e\u3059\u3002\u79c1\u305f\u3061\u306f\u3001 <a href=\"http:\/\/neuropediatoolkit.org\/ja\/criterios-de-realizacion-de-acgh\/\">aCGH<\/a> \u305d\u308c\u304c\u6b63\u5e38\u3067\u3042\u308b\u3053\u3068\u304c\u5224\u660e\u3057\u307e\u3057\u305f\u3002\u307e\u305f\u3001 <a href=\"http:\/\/neuropediatoolkit.org\/ja\/tecnicas-de-secuenciacion-masiva\/\">\u81e8\u5e8a\u30a8\u30af\u30bd\u30fc\u30e0 (\u30e1\u30f3\u30c7\u30ea\u30aa\u30fc\u30de)<\/a> \u6c7a\u5b9a\u7684\u306a\u60c5\u5831\u306f\u5f97\u3089\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u7d9a\u304d\u306f\u3069\u3053\u3078\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>\u610f\u5473\u304c\u4e0d\u660e\u77ad\u306a\u30d0\u30ea\u30a8\u30fc\u30b7\u30e7\u30f3\u3092\u518d\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p><a href=\"http:\/\/neuropediatoolkit.org\/ja\/evaluacion-de-las-variantes-de-significado-incierto-vsi\/\">\u518d\u5206\u985e\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u3053\u308c\u306b\u95a2\u3059\u308b\u30ac\u30a4\u30c9\u3092\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\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>\u95a2\u9023\u60c5\u5831\u306b\u3064\u3044\u3066\u306f\u3001\u907a\u4f1d\u7814\u7a76\u306e\u4ed8\u9332\u3092\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u907a\u4f1d\u5b66\u8005\u306f\u75c5\u7684\u5909\u7570\u3092\u7279\u5b9a\u3057\u305f\u53ef\u80fd\u6027\u304c\u3042\u308b <strong>\u52a3\u6027\u907a\u4f1d\u5b50<\/strong>\u3001\u3053\u308c\u306f\u3042\u306a\u305f\u306e\u81e8\u5e8a\u7684\u7591\u3044\u3068\u4e00\u81f4\u3057\u307e\u3059\u304c\u30012 \u756a\u76ee\u306e\u75c5\u539f\u6027\u591a\u69d8\u4f53\u304c\u898b\u3064\u304b\u3089\u306a\u304b\u3063\u305f\u305f\u3081\u3001\u672c\u6587\u3067\u306f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u8868\u73fe\u578b\u304c\u81e8\u5e8a\u4e0a\u306e\u7591\u3044\u3068\u4e00\u81f4\u3059\u308b\u5834\u5408\u306f\u3001\u3055\u3089\u306b\u8abf\u67fb\u3059\u308b\u5fc5\u8981\u304c\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002 <\/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>\u4ed6\u306e\u5bfe\u7acb\u907a\u4f1d\u5b50\u306b\u91cd\u8981\u6027\u304c\u4e0d\u78ba\u304b\u306a\u5909\u7570\u4f53\u304c\u306a\u3044\u3053\u3068\u3092\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u3053\u308c\u3092\u78ba\u8a8d\u3059\u308b\u306b\u306f\u3001\u4e21\u89aa\u306e\u5171\u5206\u96e2\u7814\u7a76\u3092\u5b9f\u884c\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u4e21\u65b9\u306e\u5909\u7570\u304c\u30c8\u30e9\u30f3\u30b9\u3067\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u3001\u8a3a\u65ad\u306e\u7591\u3044\u304c\u5f37\u5316\u3055\u308c\u307e\u3059\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>\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc\u306e\u5b58\u5728\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u5e38\u67d3\u8272\u4f53\u52a3\u6027\u907a\u4f1d\u5b50\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306b\u306f\u3001 <a href=\"http:\/\/neuropediatoolkit.org\/ja\/vademecum-metabolicum\/\">\u30d0\u30a4\u30aa\u30de\u30fc\u30ab\u30fc<\/a> \u7814\u7a76\u304c\u53ef\u80fd\u3067\u3042\u308c\u3070\u3001\u6a19\u7684\u3092\u7d5e\u3063\u305f\u7814\u7a76\uff08\u9175\u7d20\u7684\u3001\u751f\u5316\u5b66\u7684\uff09\u3092\u5b9f\u65bd\u3057\u3001\u7570\u5e38\u304c\u691c\u51fa\u3055\u308c\u305f\u5834\u5408\u306b\u306f\u3001\u3088\u308a\u9ad8\u5ea6\u306a\u30a4\u30f3\u30c8\u30ed\u30f3\u5909\u7570\u3092\u63a2\u3059\u305f\u3081\u306b\u3088\u308a\u9ad8\u5ea6\u306a\u8a3a\u65ad\u691c\u67fb\uff08RNA\u30b7\u30fc\u30af\u30a8\u30f3\u30b7\u30f3\u30b0\uff09\u3092\u5b9f\u65bd\u3059\u308b\u3053\u3068\u304c\u52b9\u7387\u7684\u306a\u6226\u7565\u3068\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\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>\u5f71\u97ff\u3092\u53d7\u3051\u305f\u907a\u4f1d\u5b50\u306e MLPA \u3092\u5b9f\u884c\u3059\u308b\u53ef\u80fd\u6027\u3092\u691c\u8a0e\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u3044\u304f\u3064\u304b\u306e\u7a81\u7136\u5909\u7570\u30e1\u30ab\u30cb\u30ba\u30e0\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059 (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Compound_heterozygosity\">\u8907\u5408\u30d8\u30c6\u30ed\u63a5\u5408\u6027<\/a>)\u3001\u6b21\u306e\u3053\u3068\u306b\u7559\u610f\u3057\u3066\u304f\u3060\u3055\u3044\u3002 <a href=\"http:\/\/neuropediatoolkit.org\/ja\/delecciones-intragenicas-exon-level-deletions\/\">\u5c0f\u3055\u306a\u30b5\u30a4\u30ba\u306e\u524a\u9664<\/a> \u4e21\u65b9\u306e\u30c6\u30b9\u30c8 (\u30a8\u30af\u30bd\u30fc\u30e0\u3068 aCGH) \u3067\u691c\u51fa\u3055\u308c\u306a\u304b\u3063\u305f\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\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>\u30b7\u30fc\u30b1\u30f3\u30b9\u3067\u306f\u8a3a\u65ad\u3067\u304d\u306a\u3044\u75c5\u6c17\u306e\u53ef\u80fd\u6027\u3092\u8abf\u3079\u307e\u3059\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u3044\u304f\u3064\u304b\u3042\u308a\u307e\u3059 <a href=\"http:\/\/neuropediatoolkit.org\/ja\/enfermedades-no-diagnosticables-por-secuenciacion\/\">\u30a8\u30af\u30bd\u30fc\u30e0\u914d\u5217\u6c7a\u5b9a\u3067\u306f\u8a3a\u65ad\u3067\u304d\u306a\u3044\u907a\u4f1d\u75c5<\/a> \u73fe\u5728\u5229\u7528\u53ef\u80fd\u306a\u30c6\u30af\u30ce\u30ed\u30b8\u30fc\u3092\u4f7f\u7528\u3057\u3066\u3002\u8868\u73fe\u578b\u304c\u305d\u308c\u3089\u306e\u3044\u305a\u308c\u304b\u306b\u4e00\u81f4\u3059\u308b\u5834\u5408\u306f\u3001\u7279\u5b9a\u306e\u8a3a\u65ad\u691c\u67fb\u3092\u8981\u6c42\u3059\u308b\u5fc5\u8981\u304c\u3042\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\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>\u65b0\u3057\u3044\u8a98\u5c0e\u75c7\u72b6\u3092\u63a2\u3057\u3066\u8868\u73fe\u578b\u3092\u6642\u3005\u518d\u8a55\u4fa1\u3057\u307e\u3059\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u8a66\u3057\u3066\u307f\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059 <a href=\"http:\/\/neuropediatoolkit.org\/ja\/human-phenotype-ontology\/\">\u8868\u73fe\u578b\u306e\u8aac\u660e\u3092\u6d17\u7df4\u3059\u308b<\/a> HPO \u30b3\u30fc\u30c9\u3092\u4f7f\u7528\u3057\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306b\u3057\u3066\u3001\u907a\u4f1d\u5b66\u8005\u306b\u3088\u308b\u30c7\u30fc\u30bf\u306e\u518d\u5206\u6790\u306e\u305f\u3081\u306e\u30b3\u30f3\u30d4\u30e5\u30fc\u30bf\u30fc \u30d5\u30a3\u30eb\u30bf\u30fc\u306e\u9069\u7528\u304c\u5bb9\u6613\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>HPO \u30b3\u30fc\u30c9\u306b\u3088\u308b\u8868\u73fe\u578b\u306e\u8aac\u660e\u306b\u3088\u308a\u3001\u6b21\u306e\u3088\u3046\u306a\u30b3\u30f3\u30d4\u30e5\u30fc\u30bf\u30fc\u5316\u3055\u308c\u305f\u9451\u5225\u8a3a\u65ad\u30c4\u30fc\u30eb\u3092\u4f7f\u7528\u3067\u304d\u307e\u3059\u3002 <a href=\"http:\/\/neuropediatoolkit.org\/ja\/phenomyzer\/\">\u30d5\u30a7\u30ce\u30de\u30a4\u30b6\u30fc<\/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>\u751f\u306e\u914d\u5217\u6c7a\u5b9a\u30c7\u30fc\u30bf\u3092\u81ea\u52d5\u7684\u306b\u5206\u6790\u3057\u306a\u304b\u3063\u305f\u5834\u5408\u306f\u30012 \uff5e 5 \u5e74\u5f8c\u306b\u518d\u5206\u6790\u3059\u308b\u3088\u3046\u907a\u4f1d\u5b66\u8005\u306b\u4f9d\u983c\u3057\u3066\u304f\u3060\u3055\u3044\u3002 <\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u5b8c\u4e86\u5f8c 12 \uff5e 24 \u304b\u6708\u5f8c\u306e\u914d\u5217\u6c7a\u5b9a\u30c7\u30fc\u30bf\u306e\u518d\u5206\u6790\u306b\u3088\u308a\u3001\u8a3a\u65ad\u306e\u53ce\u76ca\u6027\u304c 10 \uff5e 15% \u5897\u52a0\u3059\u308b\u3053\u3068\u3092\u5b9f\u8a3c\u3059\u308b\u79d1\u5b66\u51fa\u7248\u7269\u304c\u8907\u6570\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u79d1\u5b66\u7684\u77e5\u8b58\u306e\u6025\u901f\u306a\u84c4\u7a4d\u306e\u7d50\u679c\u3067\u3059\u3002 <\/p>\n\n\n\n<ul class=\"wp-block-list\"><li>\u65b0\u3057\u3044\u75c5\u539f\u6027\u907a\u4f1d\u5b50\u306e\u767a\u898b\u3002<\/li><li>\u3053\u308c\u307e\u3067\u75be\u60a3\u306b\u95a2\u4e0e\u3057\u3066\u3044\u306a\u304b\u3063\u305f\u5909\u7570\u4f53\u306e\u75c5\u539f\u6027\u3092\u660e\u3089\u304b\u306b\u3059\u308b\u3002<\/li><li>\u53c2\u7167\u30b2\u30ce\u30e0\u5185\u306e\u96c6\u56e3\u30d0\u30ea\u30a2\u30f3\u30c8\u306e\u6539\u826f (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/grc\">\u30b2\u30ce\u30e0\u30ea\u30d5\u30a1\u30ec\u30f3\u30b9\u30b3\u30f3\u30bd\u30fc\u30b7\u30a2\u30e0<\/a>). <\/li><li>\u4ed6\u306e\u5bb6\u65cf\u3067\u5b9f\u65bd\u3055\u308c\u305f\u5171\u5206\u96e2\u7814\u7a76\u3002 <\/li><li>\u30d0\u30a4\u30aa\u30a4\u30f3\u30d5\u30a9\u30de\u30c6\u30a3\u30af\u30b9 \u30c7\u30fc\u30bf\u306e\u51e6\u7406\u306b\u304a\u3051\u308b\u30d5\u30a3\u30eb\u30bf\u30fc\u306e\u9069\u7528\u306b\u304a\u3051\u308b\u6280\u8853\u7684\u6539\u5584 (\u305f\u3068\u3048\u3070\u3001\u914d\u5217\u30c7\u30fc\u30bf\u304b\u3089\u306e CNV \u7814\u7a76)\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>\u30c8\u30ea\u30aa\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9\uff08\u7814\u7a76\uff09\u3092\u5b9f\u884c\u3059\u308b\u53ef\u80fd\u6027\u3092\u691c\u8a0e\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u306e <a href=\"http:\/\/neuropediatoolkit.org\/ja\/tecnicas-de-secuenciacion-masiva\/\">\u30c8\u30ea\u30aa\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b9<\/a> (\u521d\u767a\u75c7\u4f8b\u3001\u7236\u89aa\u3001\u6bcd\u89aa) \u3092\u4f7f\u7528\u3059\u308b\u3068\u3001\u8868\u73fe\u578b\u3092\u8aac\u660e\u3059\u308b\u5019\u88dc\u3068\u306a\u308b\u53ef\u80fd\u6027\u306e\u3042\u308b\u3001\u307e\u3060\u5b8c\u5168\u306b\u7814\u7a76\u3055\u308c\u3066\u3044\u306a\u3044\u907a\u4f1d\u5b50\u306e\u65b0\u898f\u5909\u7570\u3092\u63a2\u3059\u305f\u3081\u306b\u3001\u89aa\u65cf\u306e\u30c7\u30fc\u30bf\u3092\u639b\u3051\u5408\u308f\u305b\u3066\u3001\u907a\u4f1d\u3057\u305f\u7a00\u306a\u907a\u4f1d\u7684\u5909\u7570\u3092\u6392\u9664\u3059\u308b\u30d5\u30a3\u30eb\u30bf\u30fc\u3092\u9069\u7528\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u3053\u308c\u306f\u3001\u75c5\u6c17\u306b\u95a2\u4e0e\u3059\u308b\u65b0\u3057\u3044\u907a\u4f1d\u5b50\u3092\u767a\u898b\u3057\u3001\u5b9f\u9a13\u6280\u8853\u3092\u901a\u3058\u3066\u305d\u306e\u75c5\u539f\u6027\u3092\u5b9f\u8a3c\u3067\u304d\u308b\u305f\u3081\u3001\u7814\u7a76\u30d7\u30ed\u30b8\u30a7\u30af\u30c8\u306e\u6587\u8108\u3067\u7cfb\u7d71\u7684\u306b\u9069\u7528\u3055\u308c\u308b\u5834\u5408\u306b\u6700\u5927\u306e\u53ef\u80fd\u6027\u3092\u767a\u63ee\u3059\u308b\u6280\u8853\u3067\u3059\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>\u4ed6\u306e\u5c02\u9580\u5bb6\u3068\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u8abf\u67fb\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/div><\/summary><div class=\"wp-block-themeisle-blocks-accordion-item__content\">\n<p>\u306e <a href=\"https:\/\/undiagnosed.hms.harvard.edu\/\">\u672a\u8a3a\u65ad\u75be\u60a3\u30cd\u30c3\u30c8\u30ef\u30fc\u30af<\/a> \u306f\u3001\u8a3a\u65ad\u306e\u306a\u3044\u75c5\u6c17\u306b\u95a2\u3059\u308b\u7814\u7a76\u30cd\u30c3\u30c8\u30ef\u30fc\u30af\u3067\u3042\u308a\u3001\u8907\u6570\u306e\u56fd\u306e\u5c02\u9580\u5bb6\u304c\u53c2\u52a0\u3057\u3001\u5e0c\u5c11\u75be\u60a3\u306e\u7814\u7a76\u306e\u4fc3\u9032\u8005\u3068\u3057\u3066\u306e\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u3044\u307e\u3059\u3002 ISCIII \u306b\u4f9d\u5b58\u3059\u308b\u30b9\u30da\u30a4\u30f3\u306e\u672c\u793e\u304c\u3042\u308a\u3001\u305d\u308c\u306f\u3068\u547c\u3070\u308c\u307e\u3059 <a href=\"https:\/\/spainudp.isciii.es\/\">\u30b9\u30da\u30a4\u30f3\u30cc\u30c7\u30d7<\/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 class=\"ZP_STYLE ZP_ATTR\">\u30d0\u30f3\u30af\u30fc\u30d0\u30fc<\/span>\n\t\t<span class=\"ZP_LIMIT ZP_ATTR\">50<\/span>\n\t\t<span class=\"ZP_SORTBY ZP_ATTR\">\u30c7\u30d5\u30a9\u30eb\u30c8<\/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\">2810<\/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\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\/ja\/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. Cuando el diagn\u00f3stico no llega a la primera.\u00bb<\/span><\/a><\/p>","protected":false},"author":1,"featured_media":2811,"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-2810","post","type-post","status-publish","format-standard","has-post-thumbnail","hentry","category-neurogenetica","entry"],"_links":{"self":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/2810","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/comments?post=2810"}],"version-history":[{"count":11,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/2810\/revisions"}],"predecessor-version":[{"id":8364,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/2810\/revisions\/8364"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/media\/2811"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/media?parent=2810"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/categories?post=2810"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/tags?post=2810"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}