{"id":16613,"date":"2026-01-19T06:27:02","date_gmt":"2026-01-19T06:27:02","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16613"},"modified":"2026-01-20T02:36:38","modified_gmt":"2026-01-20T02:36:38","slug":"14q11-2-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/14q11-2-microdeletion-syndrome\/","title":{"rendered":"14q11.2 microdeletion syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Del(14)(q11.2)<\/strong>\uff0814\u756a\u67d3\u8272\u4f53\u9577\u8155 q11.2 \u6b20\u5931\uff09<\/li>\n\n\n\n<li><strong>Monosomy 14q11.2<\/strong>\uff0814q11.2 \u5358\u4e00\u4f53\uff09<\/li>\n\n\n\n<li>\u4e00\u90e8\u3067\u306f <strong>Chromosome 14q11\u2013q22 deletion syndrome<\/strong> \u306e\u6975\u3081\u3066\u5c0f\u3055\u3044\u6b20\u5931\u4f8b\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u901a\u5e38 <strong>14q11.2 microdeletion syndrome<\/strong> \u306f\u5c40\u6240\u7684\u6b20\u5931\u3068\u3057\u3066\u6271\u308f\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261120?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>14\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff09\u306e 11.2 \u9818\u57df\u306b\u304a\u3051\u308b\u5fae\u5c0f\u6b20\u5931\uff08microdeletion\uff09<\/strong> \u304c\u672c\u75be\u60a3\u306e\u539f\u56e0\u3067\u3059\u3002<br>\u3053\u306e\u6b20\u5931\u306f <strong>\u6bd4\u8f03\u7684\u5c0f\u3055\u3044\u6b20\u5931\u9818\u57df<\/strong> \u3067\u3001\u4ed6\u306e 14q \u6b20\u5931\uff08\u4f8b\uff1aq11\u2013q22 \u6b20\u5931\uff09\u306b\u6bd4\u3079 <strong>\u3054\u304f\u9650\u5c40\u3057\u305f\u9818\u57df\u306e\u6b20\u5931<\/strong> \u3067\u3059\u3002<br>\u3053\u306e\u9818\u57df\u306b\u306f\u767a\u9054\u30fb\u795e\u7d4c\u6a5f\u80fd\u306b\u95a2\u9023\u3059\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\uff08\u4f8b\uff1a<strong>SUPT16H, CHD8<\/strong> \u306a\u3069\uff09\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u305d\u308c\u3089\u306e\u6b20\u5931\u304c\u81e8\u5e8a\u75c7\u72b6\u306b\u5f71\u97ff\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261120?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>14q11.2 microdeletion syndrome \u306f <strong>\u6975\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75be\u60a3<\/strong> \u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Orphanet \u306b\u3088\u308c\u3070\u3001\u767a\u751f\u983b\u5ea6\u306f <strong>&lt; 1\/1,000,000\uff08100\u4e07\u4eba\u306b1\u4eba\u672a\u6e80\uff09<\/strong> \u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261120?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n\n\n\n<li>\u81e8\u5e8a\u7684\u304a\u3088\u3073\u5206\u5b50\u7684\u306b\u7279\u5fb4\u3065\u3051\u3089\u308c\u305f\u60a3\u8005\u306f <strong>\u6570\u4f8b\u3057\u304b\u5831\u544a\u3055\u308c\u3066\u304a\u3089\u305a<\/strong>\u3001\u75c7\u4f8b\u30c7\u30fc\u30bf\u306f\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261120?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n\n\n\n<li>\u591a\u304f\u306f <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3068\u3057\u3066\u767a\u751f\u3057\u3001\u89aa\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u308b\u3053\u3068\u306f\u6975\u3081\u3066\u307e\u308c\u3067\u3059\u3002 (<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2014\/14q11.2%20deletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p><strong>\u2460 \u767a\u9054\u30fb\u77e5\u7684\u6a5f\u80fd\u306e\u969c\u5bb3<\/strong><\/p>\n\n\n\n<p>14q11.2\u5fae\u5c0f\u6b20\u5931\u306e\u6700\u3082\u4e00\u822c\u7684\u306a\u7279\u5fb4\u306f\u3001<strong>\u767a\u9054\u9045\u5ef6\u304a\u3088\u3073\u5b66\u7fd2\u306e\u8ab2\u984c<\/strong> \u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5e7c\u5150\u671f\u304b\u3089 <strong>\u904b\u52d5\u30fb\u8a00\u8a9e\u306e\u767a\u9054\u9045\u5ef6<\/strong> \u304c\u89b3\u5bdf\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306b\u306f\u6b69\u884c\u3084\u8a71\u3057\u8a00\u8449\u306e\u7372\u5f97\u304c\u5e73\u5747\u3088\u308a\u9045\u308c\u308b\u3053\u3068\u304c\u542b\u307e\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261120?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08intellectual disability\uff09<\/strong> \u304c\u591a\u304f\u306e\u75c7\u4f8b\u3067\u307f\u3089\u308c\u3001\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/rarediseaseshealthcenter.com\/condition\/14q11.2-microdeletion-syndrome\/c\/62374?utm_source=chatgpt.com\">rarediseaseshealthcenter.com<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u767a\u9054\u9045\u5ef6\u306f\u500b\u4f53\u5dee\u304c\u5927\u304d\u304f\u3001\u6b20\u5931\u306e\u5927\u304d\u3055\u3084\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u8868\u73fe\u578b\u306b\u5e45\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC2597953\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<p><strong>\u2461 \u9854\u8c8c\u7570\u5e38\uff08Dysmorphic features\uff09<\/strong><\/p>\n\n\n\n<p>Orphanet \u306a\u3069\u306e\u81e8\u5e8a\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u306f\u3001\u6b21\u306e\u3088\u3046\u306a<strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u306e\u5909\u5316<\/strong>\u304c\u4e00\u5b9a\u306e\u75c7\u4f8b\u3067\u307f\u3089\u308c\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u3068\u773c\u306e\u9593\u9694\u304c\u5e83\u3044\uff08hypertelorism\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u9f3b\u6881\u304c\u4f4e\u304f\u5e73\u5766\uff08flat nasal bridge\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u77ed\u9f3b\uff08short nose\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u9577\u3044\u4eba\u4e2d\uff08long philtrum\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u4e0b\u5507\u304c\u8c4a\u304b\uff08full lower lip\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u8033\u306e\u7570\u5e38\uff08auricular anomalies\uff09<\/strong><strong><br><\/strong>\u3053\u308c\u3089\u306f\u5fae\u5c0f\u6b20\u5931\u306b\u95a2\u9023\u3059\u308b\u5178\u578b\u7684\u306a\u9854\u8c8c\u7570\u5e38\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261120?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u2462 \u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65b0\u751f\u5150\u671f\u301c\u5e7c\u5150\u671f\u306b\u304b\u3051\u3066 <strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08hypotonia\uff09<\/strong> \u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u304c\u904b\u52d5\u767a\u9054\u9045\u5ef6\u306e\u4e00\u56e0\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261120?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u2463 \u884c\u52d5\u30fb\u81ea\u9589\u75c7\u69d8\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>\u3044\u304f\u3064\u304b\u306e\u75c7\u4f8b\u3067\u306f <strong>\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ASD\uff09\u69d8\u306e\u884c\u52d5<\/strong> \u304c\u8a8d\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u793e\u4f1a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u56f0\u96e3<\/li>\n\n\n\n<li>\u7e70\u308a\u8fd4\u3057\u884c\u52d5\u30fb\u611f\u899a\u904e\u654f<\/li>\n\n\n\n<li>\u65e5\u5e38\u6d3b\u52d5\u306b\u5bfe\u3059\u308b\u5100\u5f0f\u7684\u884c\u52d5<br>\u3053\u308c\u3089\u306f\u75c7\u72b6\u306e\u4e00\u90e8\u3068\u3057\u3066\u5831\u544a\u4f8b\u304b\u3089\u89b3\u5bdf\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2014\/14q11.2%20deletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u2464 \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u75c7\u72b6<\/strong><\/p>\n\n\n\n<p>\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u3067\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u8eab\u4f53\u7684\u7279\u5fb4\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u5fc5\u305a\u3057\u3082\u5168\u4f8b\u306b\u5171\u901a\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\uff09\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5207\u8dbe\u75c7\uff08cutaneous syndactyly\uff09<\/strong> \u3084 <strong>\u66f2\u6307\uff08clinodactyly\uff09<\/strong> \u306a\u3069\u6307\u30fb\u8dbe\u306e\u5f62\u614b\u7570\u5e38 (<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2014\/14q11.2%20deletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/li>\n\n\n\n<li><strong>\u8996\u899a\u6a5f\u80fd\u306e\u9045\u308c\u30fb\u659c\u8996\uff08strabismus\uff09<\/strong> \u306a\u3069\u306e\u8996\u899a\u7570\u5e38 (<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2014\/14q11.2%20deletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/li>\n\n\n\n<li><strong>\u767a\u80b2\u306e\u5909\u52d5\uff08\u5e73\u5747\u301c\u904e\u4f53\u91cd\u306e\u4f8b\u3042\u308a\uff09<\/strong> \u2014 \u5831\u544a\u4f8b\u3067\u306f\u4f53\u91cd\u5897\u52a0\u304c\u5e73\u5747\u4ee5\u4e0a\u3060\u3063\u305f\u4f8b\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u306f\u5fc5\u305a\u3057\u3082\u5178\u578b\u7684\u7279\u5fb4\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002 (<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2014\/14q11.2%20deletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\uff08seizures\uff09<\/strong> \u306e\u5831\u544a\u3082\u3042\u308a\uff08\u591a\u304f\u306f\u6b20\u5931\u304c\u5e83\u3044\u4f8b\u300114q12 \u3092\u542b\u3080\u5834\u5408\u306b\u591a\u3044\uff09\u3067\u3059\u304c\u300114q11.2\u5358\u72ec\u3067\u3082\u75d9\u6523\u304c\u307f\u3089\u308c\u305f\u4f8b\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2014\/14q11.2%20deletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>14q11.2 microdeletion syndrome \u306e\u539f\u56e0\u306f\u300114\u756a\u67d3\u8272\u4f53 \u9577\u8155 q11.2 \u9818\u57df\u306e\u4e00\u90e8\u6b20\u5931\uff08microdeletion\uff09\u3067\u3059\u3002<\/strong><strong><br><\/strong>\u3053\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u3001\u8a72\u5f53\u9818\u57df\u5185\u306b\u5b58\u5728\u3059\u308b\u8907\u6570\u306e\u91cd\u8981\u907a\u4f1d\u5b50\u304c <strong>\u30cf\u30d7\u30ed\u4e0d\u5168\uff08haploinsufficiency\uff1a1 \u30b3\u30d4\u30fc\u6b20\u5931\uff09<\/strong> \u72b6\u614b\u3068\u306a\u308a\u3001\u907a\u4f1d\u5b50\u7523\u7269\u306e\u4e0d\u8db3\u304c\u767a\u9054\u3084\u8eab\u4f53\u6a5f\u80fd\u306e\u969c\u5bb3\u306b\u3064\u306a\u304c\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261120?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/p>\n\n\n\n<p>\u4ee3\u8868\u7684\u306a\u6b20\u5931\u9818\u57df\u5185\u306e\u907a\u4f1d\u5b50\u306b\u306f\u6b21\u306e\u3088\u3046\u306a\u3082\u306e\u304c\u542b\u307e\u308c\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SUPT16H<\/strong>\uff1a\u30af\u30ed\u30de\u30c1\u30f3\u95a2\u9023\u56e0\u5b50\u3067\u3001\u795e\u7d4c\u767a\u9054\u3084\u8ee2\u5199\u8abf\u7bc0\u306b\u95a2\u4e0e\u3059\u308b\u3068\u3055\u308c\u308b\u5019\u88dc\u907a\u4f1d\u5b50\u3002 (<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2014\/14q11.2%20deletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/li>\n\n\n\n<li><strong>CHD8<\/strong>\uff1a\u30d8\u30ea\u30ab\u30fc\u30bc\/ATP\u30a2\u30fc\u30bc\u306b\u95a2\u9023\u3059\u308b\u56e0\u5b50\u3067\u3001\u795e\u7d4c\u767a\u9054\u969c\u5bb3\u3084\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\u3068\u306e\u95a2\u9023\u304c\u8907\u6570\u306e\u7814\u7a76\u3067\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2014\/14q11.2%20deletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u6b20\u5931\u306b\u3088\u308a\u3001\u795e\u7d4c\u767a\u9054\u3001\u9854\u8c8c\u5f62\u6210\u3001\u7b4b\u7dca\u5f35\u5236\u5fa1\u306a\u3069\u306b\u5f71\u97ff\u304c\u8d77\u3053\u308a\u3001\u75c7\u72b6\u3068\u3057\u3066\u73fe\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261120?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/p>\n\n\n\n<p>\u6b20\u5931\u306f\u307b\u3068\u3093\u3069\u304c <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3068\u3057\u3066\u751f\u3058\u3001\u89aa\u306e\u67d3\u8272\u4f53\u304c\u6b63\u5e38\u3067\u3042\u308b\u5834\u5408\u304c\u591a\u3044\u3067\u3059\u3002\u307e\u308c\u306b\u89aa\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3064\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u305d\u306e\u5834\u5408\u306f\u518d\u767a\u30ea\u30b9\u30af\u306e\u8a55\u4fa1\u304c\u91cd\u8981\u3067\u3059\u3002 (<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2014\/14q11.2%20deletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5\uff08\u7ba1\u7406\u30fb\u652f\u63f4\uff09<\/strong><\/h2>\n\n\n\n<p><strong>14q11.2 microdeletion syndrome \u306b\u306f\u6839\u672c\u7684\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\u3002<\/strong><strong><br><\/strong>\u6cbb\u7642\u306f\u75c7\u72b6\u3054\u3068\u306e <strong>\u652f\u6301\u7642\u6cd5\uff08supportive care\uff09<\/strong> \u3068 <strong>\u591a\u8077\u7a2e\u306b\u3088\u308b\u5305\u62ec\u7684\u652f\u63f4<\/strong> \u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08Physical Therapy\uff09<\/strong>\uff1a\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u904b\u52d5\u767a\u9054\u9045\u5ef6\u306b\u5bfe\u5fdc\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08Occupational Therapy\uff09<\/strong>\uff1a\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u30fb\u611f\u899a\u7d71\u5408\u652f\u63f4\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08Speech Therapy\uff09<\/strong>\uff1a\u8a00\u8a9e\u767a\u9054\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u4ecb\u5165\u304c\u767a\u9054\u4e88\u5f8c\u306b\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u884c\u52d5\u30fb\u5fc3\u7406\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u7642\u6cd5\u30fb\u5fc3\u7406\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\uff1a\u81ea\u9589\u75c7\u69d8\u75c7\u72b6\u3001\u60c5\u7dd2\u9762\u306e\u56f0\u96e3\u3078\u306e\u5bfe\u5fdc\u3002<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u652f\u63f4\u30d7\u30e9\u30f3\uff08IEP\uff09<\/strong>\uff1a\u5b66\u6821\u751f\u6d3b\u3084\u5b66\u7fd2\u652f\u63f4\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u533b\u7642\u7684\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8996\u899a\u30fb\u8074\u899a\u306e\u30d5\u30a9\u30ed\u30fc<\/strong>\uff1a\u773c\u79d1\/\u8033\u9f3b\u79d1\u306b\u3088\u308b\u8a55\u4fa1\u3068\u88dc\u52a9\u5177\uff08\u773c\u93e1\/\u88dc\u8074\u5668\uff09\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\u7ba1\u7406<\/strong>\uff1a\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u6297\u3066\u3093\u304b\u3093\u85ac\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5b9a\u671f\u7684\u8a55\u4fa1\u3068\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7<\/strong><\/p>\n\n\n\n<p>\u767a\u9054\u6bb5\u968e\u3084\u6210\u9577\u3001\u8eab\u4f53\u6a5f\u80fd\u3092\u5b9a\u671f\u8a55\u4fa1\u3057\u3001\u9069\u5207\u306a\u652f\u63f4\u8a08\u753b\u3092\u8abf\u6574\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>5. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u306e\u767a\u751f\u30e1\u30ab\u30cb\u30ba\u30e0\u3068 <strong>\u518d\u767a\u30ea\u30b9\u30af\u8a55\u4fa1<\/strong>\u3002<\/li>\n\n\n\n<li>\u5bb6\u65cf\u8a08\u753b\u306e\u652f\u63f4\u3084\u691c\u67fb\u30aa\u30d7\u30b7\u30e7\u30f3\uff08CVS\u3001amniocentesis\u3001PGD \u306a\u3069\uff09\u306e\u8aac\u660e\u3002 (<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2014\/14q11.2%20deletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>14q11.2 microdeletion syndrome<\/strong> \u306f 14 \u756a\u67d3\u8272\u4f53\u9577\u8155 q11.2 \u9818\u57df\u306e <strong>\u5fae\u5c0f\u6b20\u5931<\/strong> \u306b\u3088\u3063\u3066\u751f\u3058\u308b\u7a00\u306a\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u9854\u8c8c\u7570\u5e38\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u884c\u52d5\u30fb\u81ea\u9589\u75c7\u69d8\u75c7\u72b6\u306a\u3069\u3001\u591a\u5c90\u306b\u308f\u305f\u308b\u81e8\u5e8a\u50cf\u3092\u5448\u3057\u307e\u3059\u3002\u539f\u56e0\u306f\u6b20\u5931\u9818\u57df\u5185\u306e\u8907\u6570\u907a\u4f1d\u5b50\uff08\u7279\u306b <strong>SUPT16H, CHD8<\/strong> \u306a\u3069\uff09\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u767a\u75c7\u306b\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u6cbb\u7642\u6cd5\u306f\u6839\u672c\u7684\u306b\u306f\u5b58\u5728\u3057\u306a\u3044\u305f\u3081\u3001<strong>\u7642\u80b2\u3001\u6559\u80b2\u652f\u63f4\u3001\u533b\u7642\u7684\u7ba1\u7406<\/strong> \u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u5305\u62ec\u7684\u306a\u652f\u63f4\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li>OrphaNet: <strong>14q11.2 microdeletion syndrome<\/strong> \u2014 \u75c7\u5019\u7fa4\u6982\u8981\u3001\u81e8\u5e8a\u50cf\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261120?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n\n\n\n<li>GARD \/ NIH Rare Diseases: <strong>Chromosome 14q11-q22 deletion syndrome<\/strong> \u2014 \u767a\u9054\u9045\u5ef6\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u9854\u8c8c\u7570\u5e38\u306e\u7279\u5fb4\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/17241\/chromosome-14q11-q22-deletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li>RareChromo.org: <strong>14q11.2 deletions FTNP<\/strong> \u2014 \u907a\u4f1d\u5b50\u5019\u88dc\u3068\u8868\u73fe\u578b\u7d39\u4ecb\u3002 (<a href=\"https:\/\/www.rarechromo.org\/media\/information\/Chromosome%2014\/14q11.2%20deletions%20FTNP.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/li>\n\n\n\n<li>Zahir et al. (2007) and Drabova et al. (2015) case studies on 14q11.2 microdeletion \u2014 \u81e8\u5e8a\u5831\u544a\u3068\u95a2\u9023\u907a\u4f1d\u5b50\u306e\u89e3\u6790\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC2597953\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>RareDiseasesHealthCenter.com: \u57fa\u672c\u75be\u60a3\u60c5\u5831\u3068\u7279\u5fb4\u3002 (<a href=\"https:\/\/rarediseaseshealthcenter.com\/condition\/14q11.2-microdeletion-syndrome\/c\/62374?utm_source=chatgpt.com\">rarediseaseshealthcenter.com<\/a>)<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n","protected":false},"featured_media":0,"template":"","class_list":["post-16613","genetic-screening","type-genetic-screening","status-publish","hentry"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16613","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/types\/genetic-screening"}],"version-history":[{"count":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16613\/revisions"}],"predecessor-version":[{"id":16771,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16613\/revisions\/16771"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16613"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}