{"id":7204,"date":"2024-01-30T14:14:47","date_gmt":"2024-01-30T14:14:47","guid":{"rendered":"https:\/\/neuropediatoolkit.org\/?p=7204"},"modified":"2024-02-08T21:34:15","modified_gmt":"2024-02-08T21:34:15","slug":"indicacion-de-cosegregacion","status":"publish","type":"post","link":"https:\/\/neuropediatoolkit.org\/ja\/indicacion-de-cosegregacion\/","title":{"rendered":"\u5171\u5206\u96e2\u306e\u5146\u5019\u3002"},"content":{"rendered":"<p class=\"wp-block-paragraph\">\u5171\u5206\u96e2\u7814\u7a76\u306e\u5b9f\u884c\u306b\u306f\u3001\u4e3b\u306b 2 \u3064\u306e\u7528\u9014\u304c\u3042\u308a\u307e\u3059\u3002 <\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u751f\u6b96\u306b\u95a2\u3059\u308b\u30a2\u30c9\u30d0\u30a4\u30b9\u3002\u5bb6\u65cf\u306e\u8abf\u67fb\u3092\u901a\u3058\u3066\u3001\u907a\u4f1d\u6027\u75be\u60a3\u306e\u4f1d\u64ad\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u5bb6\u65cf\u5185\u306b\u7121\u75c7\u5019\u6027\u4fdd\u56e0\u8005\u304c\u5b58\u5728\u3059\u308b\u304b\u3069\u3046\u304b\u306b\u3064\u3044\u3066\u306e\u60c5\u5831\u3092\u5f97\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002 It is necessary to check if there is reproductive intention in the family. <\/li>\n\n\n\n<li>VSI \u306e\u518d\u5206\u6790\u3068\u518d\u5206\u985e\u3002\u610f\u5473\u304c\u4e0d\u660e\u77ad\u3067\u3001de novo \u30d0\u30ea\u30a2\u30f3\u30c8\u3067\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u77e5\u308b\u3053\u3068\u304c\u91cd\u8981\u306a\u30d0\u30ea\u30a2\u30f3\u30c8\u3067\u306f\u3001\u3053\u306e\u60c5\u5831\u3092\u5f97\u308b\u305f\u3081\u306b\u5171\u5206\u96e2\u7814\u7a76\u3092\u5b9f\u884c\u3067\u304d\u307e\u3059\u3002 <\/li>\n\n\n\n<li>De novo \u51fa\u73fe\u306f\u3001\u75c5\u539f\u6027\u5206\u985e\u3067\u4f7f\u7528\u3055\u308c\u308b ACMG \u57fa\u6e96\u3067\u3059\u3002\u518d\u5206\u6790\u306e\u7d50\u679c\u3001\u75c5\u539f\u6027\u304c\u518d\u5206\u985e\u3055\u308c\u305f\u5834\u5408\u3001\u305d\u308c\u306f\u81e8\u5e8a\u7684\u306b\u91cd\u8981\u3067\u3042\u308b\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u305d\u3046\u3067\u306a\u3044\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306f\u3001VSI \u304b\u3089\u304a\u305d\u3089\u304f\u75c5\u539f\u6027\u3078\u306e\u5909\u5316\u3092\u5f15\u304d\u8d77\u3053\u3059\u5834\u5408\u3001\u81e8\u5e8a\u7684\u306b\u91cd\u8981\u3067\u3059\u3002 <\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img fetchpriority=\"high\" decoding=\"async\" width=\"850\" height=\"442\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-19.png\" alt=\"\" class=\"wp-image-7269\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-19.png 850w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-19-300x156.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-19-768x399.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-19-18x9.png 18w\" sizes=\"(max-width: 850px) 100vw, 850px\" \/><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li>VSI \u306e\u75c5\u539f\u6027\u306e\u78ba\u7387\u306f 5 \uff5e 95% \u3068\u3044\u3046\u975e\u5e38\u306b\u9ad8\u3044\u7bc4\u56f2\u3067\u5909\u52d5\u3059\u308b\u305f\u3081\u3001\u3059\u3079\u3066\u306e VSI \u304c\u540c\u3058\u3068\u3044\u3046\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u304a\u305d\u3089\u304f\u826f\u6027\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u308b\u3082\u306e\u306b\u975e\u5e38\u306b\u8fd1\u3044\u3082\u306e\u3082\u3042\u308c\u3070\u3001\u304a\u305d\u3089\u304f\u75c5\u539f\u6027\u3067\u3042\u308b\u3068\u518d\u5206\u985e\u3055\u308c\u308b\u3082\u306e\u306b\u8fd1\u3044\u3082\u306e\u3082\u3042\u308a\u307e\u3059\u3002\u3057\u305f\u304c\u3063\u3066\u3001VSI \u3068\u3057\u3066\u5206\u985e\u3055\u308c\u305f\u7406\u7531\u3001\u7279\u306b\u305d\u308c\u304c\u6e80\u305f\u3057\u3066\u3044\u308b ACMG \u57fa\u6e96\u3092\u77e5\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002 <\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full\"><img decoding=\"async\" width=\"1024\" height=\"219\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-18.png\" alt=\"\" class=\"wp-image-7267\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-18.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-18-300x64.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-18-768x164.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-18-18x4.png 18w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u307e\u305f\u3001\u75c5\u539f\u6027\u306e\u78ba\u7387\u3092\u8a08\u7b97\u3059\u308b\u305f\u3081\u306e\u30b3\u30f3\u30d4\u30e5\u30fc\u30bf\u30fc\u5316\u3055\u308c\u305f\u30b7\u30b9\u30c6\u30e0\u3092\u4f7f\u7528\u3057\u3066\u3001\u4e8b\u524d\u306e\u30b7\u30df\u30e5\u30ec\u30fc\u30b7\u30e7\u30f3\u3092\u5b9f\u884c\u3057\u3001\u4e0a\u8a18\u306e\u57fa\u6e96\u306b\u6e96\u62e0\u3059\u308b\u3053\u3068\u3067\u5206\u985e\u304c\u5909\u66f4\u3055\u308c\u308b\u304b\u3069\u3046\u304b\u306b\u5fdc\u3058\u3066\u3001\u5171\u5206\u96e2\u3092\u5b9f\u884c\u3059\u308b\u4fa1\u5024\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u6c7a\u5b9a\u3059\u308b\u3053\u3068\u3082\u8208\u5473\u6df1\u3044\u3067\u3059\u3002 <\/li>\n<\/ul>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u610f\u5473\u3067\u3001Varsome \u306f\u3001\u91cd\u8981\u6027\u304c\u4e0d\u78ba\u304b\u306a\u5909\u7570\u578b\u304c\u305d\u306e\u65b0\u305f\u306a\u8d77\u6e90\u3092\u8a3c\u660e\u3067\u304d\u305f\u5834\u5408\u3001\u3064\u307e\u308a PM6 \u307e\u305f\u306f PS2 \u306e\u57fa\u6e96\u3092\u6e80\u305f\u3059\u5834\u5408\u306b\u305d\u306e\u75c5\u539f\u6027\u5206\u985e\u304c\u5909\u66f4\u3055\u308c\u308b\u53ef\u80fd\u6027\u3092\u8a55\u4fa1\u3059\u308b\u305f\u3081\u306b\u4f7f\u7528\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<figure class=\"wp-block-image size-full is-resized\"><img decoding=\"async\" width=\"900\" height=\"732\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-7.png\" alt=\"\" class=\"wp-image-7243\" style=\"width:800px;height:auto\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-7.png 900w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-7-300x244.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-7-768x625.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-7-15x12.png 15w\" sizes=\"(max-width: 900px) 100vw, 900px\" \/><\/figure>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full is-resized\"><img loading=\"lazy\" decoding=\"async\" width=\"300\" height=\"244\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-8-edited.png\" alt=\"\" class=\"wp-image-7245\" style=\"width:510px;height:auto\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-8-edited.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-8-edited-15x12.png 15w\" sizes=\"(max-width: 300px) 100vw, 300px\" \/><\/figure>\n<\/div>\n\n\n<p class=\"wp-block-paragraph\">\u4f8b: \u304a\u305d\u3089\u304f\u75c5\u539f\u6027\u304c\u3042\u308b\u3068\u5206\u985e\u3055\u308c\u305f\u30d0\u30ea\u30a2\u30f3\u30c8\u3002PS2 \u57fa\u6e96\u3092\u9069\u7528\u3057\u305f\u5f8c\u3001\u75c5\u539f\u6027\u3068\u3057\u3066\u518d\u5206\u985e\u3055\u308c\u307e\u3059\u3002 <\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"465\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-12-1024x465.png\" alt=\"\" class=\"wp-image-7250\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-12-1024x465.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-12-300x136.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-12-768x349.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-12-1536x698.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-12-18x8.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-12-1568x713.png 1568w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-12.png 1837w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"453\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-13-1024x453.png\" alt=\"\" class=\"wp-image-7251\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-13-1024x453.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-13-300x133.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-13-768x340.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-13-1536x679.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-13-18x8.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-13-1568x693.png 1568w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-13.png 1807w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"458\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-14-1024x458.png\" alt=\"\" class=\"wp-image-7252\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-14-1024x458.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-14-300x134.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-14-768x343.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-14-1536x687.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-14-18x8.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-14-1568x701.png 1568w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-14.png 1800w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<p class=\"wp-block-paragraph\">\u4f8b 2: \u304a\u305d\u3089\u304f\u75c5\u539f\u6027\u3068\u3057\u3066\u518d\u5206\u985e\u3055\u308c\u308b\u75c5\u539f\u6027\u5909\u7570\u3002<\/p>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"464\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-9-1024x464.png\" alt=\"\" class=\"wp-image-7247\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-9-1024x464.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-9-300x136.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-9-768x348.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-9-1536x696.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-9-18x8.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-9-1568x711.png 1568w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-9.png 1875w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"475\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-11-1024x475.png\" alt=\"\" class=\"wp-image-7249\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-11-1024x475.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-11-300x139.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-11-768x356.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-11-1536x712.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-11-18x8.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-11-1568x727.png 1568w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-11.png 1879w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<figure class=\"wp-block-image size-large\"><img loading=\"lazy\" decoding=\"async\" width=\"1024\" height=\"472\" src=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-10-1024x472.png\" alt=\"\" class=\"wp-image-7248\" srcset=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-10-1024x472.png 1024w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-10-300x138.png 300w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-10-768x354.png 768w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-10-1536x708.png 1536w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-10-18x8.png 18w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-10-1568x722.png 1568w, https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/image-10.png 1845w\" sizes=\"(max-width: 1024px) 100vw, 1024px\" \/><\/figure>\n\n\n\n<div data-wp-interactive=\"core\/file\" class=\"wp-block-file\"><object data-wp-bind--hidden=\"!state.hasPdfPreview\" hidden class=\"wp-block-file__embed\" data=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/Implementation-of-ACMG-Guidelines-1-1.pdf\" type=\"application\/pdf\" style=\"width:100%;height:600px\" aria-label=\"ACMG\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306e\u5b9f\u88c5-1-1\u3092\u57cb\u3081\u8fbc\u307f\u307e\u3059\u3002\"><\/object><a id=\"wp-block-file--media-15288021-6285-460a-8cf6-c1ac6eac7bf5\" href=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/Implementation-of-ACMG-Guidelines-1-1.pdf\">ACMG\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u306e\u5b9f\u65bd-1-1<\/a><a href=\"https:\/\/neuropediatoolkit.org\/wp-content\/uploads\/2024\/02\/Implementation-of-ACMG-Guidelines-1-1.pdf\" class=\"wp-block-file__button wp-element-button\" download aria-describedby=\"wp-block-file--media-15288021-6285-460a-8cf6-c1ac6eac7bf5\">\u653e\u96fb<\/a><\/div>","protected":false},"excerpt":{"rendered":"<p>\u5171\u5206\u96e2\u7814\u7a76\u306e\u5b9f\u884c\u306b\u306f\u3001\u4e3b\u306b 2 \u3064\u306e\u7528\u9014\u304c\u3042\u308a\u307e\u3059\u3002 \u4f8b: \u304a\u305d\u3089\u304f\u75c5\u539f\u6027\u304c\u3042\u308b\u3068\u5206\u985e\u3055\u308c\u305f\u30d0\u30ea\u30a2\u30f3\u30c8\u3002PS2 \u57fa\u6e96\u3092\u9069\u7528\u3057\u305f\u5f8c\u3001\u75c5\u539f\u6027\u3068\u3057\u3066\u518d\u5206\u985e\u3055\u308c\u307e\u3059\u3002\u4f8b 2: \u304a\u305d\u3089\u304f\u75c5\u539f\u6027\u3068\u3057\u3066\u518d\u5206\u985e\u3055\u308c\u308b\u75c5\u539f\u6027\u5909\u7570\u3002<\/p>","protected":false},"author":1,"featured_media":7209,"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-7204","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\/7204","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=7204"}],"version-history":[{"count":8,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/7204\/revisions"}],"predecessor-version":[{"id":7274,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/posts\/7204\/revisions\/7274"}],"wp:featuredmedia":[{"embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/media\/7209"}],"wp:attachment":[{"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/media?parent=7204"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/categories?post=7204"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/neuropediatoolkit.org\/ja\/wp-json\/wp\/v2\/tags?post=7204"}],"curies":[{"name":"\u3046\u30fc\u3093","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}