{"id":16665,"date":"2026-01-19T07:55:47","date_gmt":"2026-01-19T07:55:47","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16665"},"modified":"2026-01-22T09:01:56","modified_gmt":"2026-01-22T09:01:56","slug":"16p11-2-deletion-distal-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/16p11-2-deletion-distal-syndrome\/","title":{"rendered":"16p11.2 deletion (distal) 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>Distal 16p11.2 microdeletion syndrome<\/strong> \u2014 16p11.2 \u306e distal\uff08\u672b\u7aef\u5074\uff09\u9818\u57df\u306b\u304a\u3051\u308b\u5fae\u5c0f\u6b20\u5931\u306b\u3088\u308b\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4\u3002(<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261222?utm_source=chatgpt.com\">orpha.net<\/a>)<\/li>\n\n\n\n<li><strong>16p11.2 distal deletion syndrome<\/strong> \u2014 \u540c\u7fa9\u8a9e\u3068\u3057\u3066\u4f7f\u308f\u308c\u308b\u5225\u540d\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/17244\/distal-16p112-microdeletion-syndrome?utm_source=chatgpt.com\">rarediseases.info.nih.gov<\/a>)<\/li>\n\n\n\n<li><strong>16p11.2 BP2-BP3 deletion<\/strong> \u2014 \u9060\u4f4d BP2-BP3 \u90e8\u5206\u3092\u6b20\u5931\u3059\u308b CNV\uff08\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff09\u306e\u540d\u79f0\u3068\u3057\u3066\u6587\u732e\u3067\u4f7f\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u3002(<a href=\"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/16p11-2-distal-deletion\/?utm_source=chatgpt.com\">Simons Searchlight<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u672c\u75c7\u5019\u7fa4\u306f 16p11.2 \u9818\u57df\u306e\u6b20\u5931\u306e\u3046\u3061\u3001\u7279\u306b <strong>BP2\uff08breakpoint 2\uff09\u301cBP3<\/strong> \u9593\u306e distal\uff08\u9060\u4f4d\uff09\u5074\u306b\u5f53\u305f\u308b\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\u3092\u6307\u3057\u307e\u3059\uff08\u5178\u578b\u7684\u306a BP4-BP5 \u3088\u308a distal\uff09\u3002(<a href=\"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/16p11-2-distal-deletion\/?utm_source=chatgpt.com\">Simons Searchlight<\/a>)<\/p>\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>\u7b2c16\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff08p\uff09\u306e distal \u9818\u57df\u300116p11.2 \u306e BP2\u301cBP3 \u7bc4\u56f2\u306b\u304a\u3051\u308b\u5fae\u5c0f\u6b20\u5931<\/strong>\uff08recurrent distal microdeletion\uff09\u3002(<a href=\"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/16p11-2-distal-deletion\/?utm_source=chatgpt.com\">Simons Searchlight<\/a>)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u90e8\u4f4d\u306f 16p11.2 \u5185\u3067\u3082\u5178\u578b\u7684\u306a CNV \u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u3067\u3001<strong>BP2 \u3068 BP3 \u3068\u3044\u3046\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\u914d\u5217\uff08LCR\uff09\u306e\u9593<\/strong>\u306b\u4f4d\u7f6e\u3059\u308b\u305f\u3081\u3001\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff08NAHR\uff09\u304c\u8d77\u3053\u308a\u3084\u3059\u304f\u3001\u518d\u767a\u6027\u6b20\u5931\u304c\u751f\u3058\u307e\u3059\u3002(<a href=\"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/16p11-2-distal-deletion\/?utm_source=chatgpt.com\">Simons Searchlight<\/a>)<\/li>\n\n\n\n<li>BP2-BP3 \u306e\u6b20\u5931\u306f\u9577\u3055\u304c\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u7a0b\u5ea6\u3067\u3001\u6b20\u5931\u3055\u308c\u308b\u907a\u4f1d\u5b50\u6570\u306f\u75c7\u4f8b\u306b\u3088\u308a\u3084\u3084\u7570\u306a\u308b\u3082\u306e\u306e\u3001\u795e\u7d4c\u767a\u9054\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u3092\u542b\u3080\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/16p11-2-distal-deletion\/?utm_source=chatgpt.com\">Simons Searchlight<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>16p11.2 deletion \u5168\u822c\uff08\u4e3b\u306b proximal BP4-BP5 \u533a\u9593\uff09\u306f\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u304f\u3001<strong>\u51fa\u751f1\/2000 \u524d\u5f8c<\/strong> \u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u308c\u306f proximal \u90e8\u5206\u306e\u5024\u3067\u3059\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC9778018\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<p>\u4e00\u65b9\u3001<strong>distal\uff08BP2-BP3\uff09 deletion \u306f\u3088\u308a\u7a00<\/strong>\u3067\u3001\u591a\u304f\u306e\u75c7\u4f8b\u304c\u500b\u5225\u5831\u544a\u30ec\u30d9\u30eb\u306b\u3068\u3069\u307e\u3063\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>Simons Searchlight \u306b\u3088\u308b\u53c2\u52a0\u4f8b\u306f <strong>75\u4f8b\u4ee5\u4e0a<\/strong> \u306b\u9054\u3057\u3066\u304a\u308a\u3001\u4e16\u754c\u4e2d\u3067\u691c\u51fa\u304c\u9032\u3080\u306b\u3064\u308c\u3066\u3055\u3089\u306a\u308b\u75c7\u4f8b\u304c\u540c\u5b9a\u3055\u308c\u3064\u3064\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/16p11-2-distal-deletion\/?utm_source=chatgpt.com\">Simons Searchlight<\/a>)<\/li>\n\n\n\n<li>Case-control \u7814\u7a76\u3067\u306f\u3001distal 16p11.2 deletion \u306f\u81e8\u5e8a\u96c6\u56e3\u3067\u691c\u51fa\u3055\u308c\u3001\u5bfe\u7167\u96c6\u56e3\u3088\u308a\u3082\u6709\u610f\u306b\u9ad8\u3044\u30aa\u30c3\u30ba\u6bd4\u3092\u793a\u3059\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\uff0813\/13,850 vs 3\/19,954\uff09\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37486?utm_source=chatgpt.com\">ClinGen<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u3057\u304b\u3057\u3001<strong>\u4e00\u822c\u4eba\u53e3\u306b\u304a\u3051\u308b\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306e\u6570\u5024\u306f\u73fe\u6642\u70b9\u3067\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093<\/strong>\uff08CNV \u306e\u540c\u5b9a\u304c\u691c\u67fb\u666e\u53ca\u306b\u4f9d\u5b58\u3059\u308b\u305f\u3081\uff09\u3002(<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261222?utm_source=chatgpt.com\">orpha.net<\/a>)<\/p>\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>1. \u795e\u7d4c\u767a\u9054\u30fb\u77e5\u7684\u7279\u6027<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u5ef6\uff08developmental delay\uff09<\/strong> \u2014 \u5e7c\u5150\u671f\u304b\u3089\u904b\u52d5\u30fb\u8a00\u8a9e\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/17244\/distal-16p112-microdeletion-syndrome?utm_source=chatgpt.com\">rarediseases.info.nih.gov<\/a>)<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08intellectual disability\uff09<\/strong> \u2014 \u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u6a5f\u80fd\u4f4e\u4e0b\u3092\u793a\u3059\u4f8b\u304c\u591a\u6570\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/17244\/distal-16p112-microdeletion-syndrome?utm_source=chatgpt.com\">rarediseases.info.nih.gov<\/a>)<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u969c\u5bb3<\/strong> \u2014 \u8a00\u8a9e\u7372\u5f97\u306e\u9045\u308c\u3084\u767a\u8a71\u306e\u56f0\u96e3\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u30b9\u30ad\u30eb\u306e\u767a\u9054\u9045\u5ef6\u7b49\u3092\u4f34\u3044\u307e\u3059\uff08Simons Searchlight \u307e\u3068\u3081\uff09\u3002(<a href=\"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/16p11-2-distal-deletion\/?utm_source=chatgpt.com\">Simons Searchlight<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306f 16p11.2 deletion \u5168\u822c\u306b\u5171\u901a\u3059\u308b\u795e\u7d4c\u767a\u9054\u7570\u5e38\u306e1\u3064\u306e\u5074\u9762\u3067\u3042\u308a\u3001distal deletion \u3067\u3082\u540c\u69d8\u306b\u89b3\u5bdf\u3055\u308c\u307e\u3059\u3002(<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261222?utm_source=chatgpt.com\">orpha.net<\/a>)<\/p>\n\n\n\n<p><strong>2. \u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u30fb\u884c\u52d5\u7279\u6027<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>ASD\uff08\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff09<\/strong> \u2014 \u767a\u9054\u969c\u5bb3\u306e\u4e00\u90e8\u3068\u3057\u3066\u9ad8\u3044\u983b\u5ea6\u3067\u5408\u4f75\u3059\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u793e\u4ea4\u6027\u3084\u884c\u52d5\u306e\u7279\u5fb4\u304c\u51fa\u73fe\u3059\u308b\u4f8b\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/17244\/distal-16p112-microdeletion-syndrome?utm_source=chatgpt.com\">rarediseases.info.nih.gov<\/a>)<\/li>\n\n\n\n<li><strong>\u6ce8\u610f\u6b20\u9665\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09<\/strong> \u3084 <strong>\u60c5\u7dd2\u9762\u306e\u8ab2\u984c<\/strong> \u306a\u3069\u3001\u884c\u52d5\u5b66\u7684\u306a\u554f\u984c\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/17244\/distal-16p112-microdeletion-syndrome?utm_source=chatgpt.com\">rarediseases.info.nih.gov<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u3053\u308c\u3089\u306e\u795e\u7d4c\u884c\u52d5\u7684\u7279\u5fb4\u306f 16p11.2 deletion \u5168\u822c\u306e\u591a\u6570\u7814\u7a76\u3067\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001distal deletion \u3067\u3082\u540c\u69d8\u306e\u884c\u52d5\u7279\u6027\u3092\u793a\u3059\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC7606557\/?utm_source=chatgpt.com\">PMC<\/a>)<\/p>\n\n\n\n<p><strong>3. \u3066\u3093\u304b\u3093 \/ \u767a\u4f5c<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u306e\u75c7\u4f8b\u306b\u3066\u3066\u3093\u304b\u3093\u767a\u4f5c\u30fb\u7672\u7647\uff08epilepsy\uff09\u304c\u89b3\u5bdf\u3055\u308c\u3066\u3044\u307e\u3059\u300216p11.2 deletion \u5168\u822c\u3067\u3082\u767a\u4f5c\u304c\u4e00\u5b9a\u983b\u5ea6\u3067\u898b\u3089\u308c\u3001distal deletion \u3067\u3082\u540c\u69d8\u306e\u795e\u7d4c\u904e\u654f\u6027\u3092\u5448\u3059\u308b\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/17244\/distal-16p112-microdeletion-syndrome?utm_source=chatgpt.com\">rarediseases.info.nih.gov<\/a>)<\/li>\n\n\n\n<li>\u5178\u578b\u7684\u306b\u306f\u30c8\u30cb\u30c3\u30af-\u30af\u30ed\u30cb\u30c3\u30af\u767a\u4f5c\u3084\u6b20\u795e\u767a\u4f5c\u306a\u3069\u591a\u69d8\u306a\u767a\u4f5c\u578b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u4e00\u822c\u7684\u306a\u524a\u9664\u4f8b\u306e\u89b3\u5bdf\uff09\u3002(<a href=\"https:\/\/www.neurology.org\/doi\/10.1212\/NXG.0000000000200018?utm_source=chatgpt.com\">neurology.org<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u4f53\u683c\u30fb\u6210\u9577\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u306e\u907a\u4f1d\u5b50\u6b20\u5931\u306b\u8d77\u56e0\u3059\u308b\u5de8\u982d\u75c7\uff08macrocephaly\uff09\u304c 16p11.2 distal deletion \u4f8b\u3067\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/17244\/distal-16p112-microdeletion-syndrome?utm_source=chatgpt.com\">rarediseases.info.nih.gov<\/a>)<\/li>\n\n\n\n<li><strong>\u80a5\u6e80\u50be\u5411\uff08obesity\uff09<\/strong> \u2014 16p11.2 deletion \u5168\u822c\u3067\u4f53\u91cd\u5897\u52a0\u3084 BMI \u4e0a\u6607\u304c\u4e00\u90e8\u4f8b\u3067\u89b3\u5bdf\u3055\u308c\u3001distal deletion \u3067\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462051?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u9aa8\u683c\u30fb\u810a\u690e\u306a\u3069\u306e\u69cb\u9020\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u810a\u690e\u5947\u5f62\u3084\u810a\u67f1\u5074\u5f2f\uff08scoliosis\uff09\u306a\u3069\u306e <strong>\u9aa8\u683c\u7279\u7570\u6240\u898b<\/strong> \u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff0816p11.2 CNV \u5168\u822c\u3067\uff09\u3002(<a href=\"https:\/\/www.nature.com\/articles\/s41431-024-01601-2?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u5408\u4f75\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u75c7\u4f8b\u3067 <strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u7cfb\u7570\u5e38\uff08\u4f8b\uff1a\u7247\u5074\u814e\u6b20\u640d\uff09<\/strong>\u3001\u6d88\u5316\u7ba1\u795e\u7d4c\u767a\u9054\u7570\u5e38\uff08\u795e\u7d4c\u539f\u6027\u8178\u75be\u60a3\uff09\u306a\u3069\u3082\u3042\u308f\u305b\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462051?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>\u3053\u308c\u3089\u306f\u5fc5\u305a\u51fa\u73fe\u3059\u308b\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u6b20\u5931\u7bc4\u56f2\u30fb\u4ed6\u306e\u74b0\u5883\/\u907a\u4f1d\u80cc\u666f\u306b\u3088\u308a\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u6240\u898b\u3067\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/462051?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>16p11.2 deletion (distal) syndrome \u306e\u539f\u56e0\u306f\u300116\u756a\u67d3\u8272\u4f53\u77ed\u8155\uff08p\uff09\u306e distal 16p11.2 \u9818\u57df\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u3059\u3002<\/strong>(<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261222?utm_source=chatgpt.com\">orpha.net<\/a>)<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u7684\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u306f <strong>\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff08NAHR\uff09<\/strong> \u306e\u7d50\u679c\u3068\u3057\u3066\u751f\u3058\u3084\u3059\u3044\u90e8\u4f4d\u306b\u767a\u751f\u3057\u3001\u6b20\u5931\u3055\u308c\u305f\u907a\u4f1d\u5b50\u304c<strong>1\u30b3\u30d4\u30fc\u6b20\u5931\uff08haploinsufficiency\uff09<\/strong> \u306e\u72b6\u614b\u3068\u306a\u308b\u3053\u3068\u3067\u3001\u767a\u9054\u3084\u7cbe\u795e\u30fb\u8eab\u4f53\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002(<a href=\"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/16p11-2-distal-deletion\/?utm_source=chatgpt.com\">Simons Searchlight<\/a>)<\/li>\n\n\n\n<li>16p11.2 distal deletion \u3067\u306f 9 \u7a0b\u5ea6\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3055\u308c\u308b\u5834\u5408\u304c\u591a\u304f\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c<strong>\u795e\u7d4c\u767a\u9054\u3084\u4ee3\u8b1d\u3001\u884c\u52d5\u5236\u5fa1\u306b\u95a2\u4e0e<\/strong>\u3059\u308b\u3053\u3068\u304c\u60f3\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\uff08Simons Searchlight \u8aac\u660e\uff09\u3002(<a href=\"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/16p11-2-distal-deletion\/?utm_source=chatgpt.com\">Simons Searchlight<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u907a\u4f1d\u5f62\u5f0f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u5834\u5408 <strong>de novo\uff08\u65b0\u751f\u5909\u7570\uff09<\/strong> \u3067\u51fa\u73fe\u3057\u307e\u3059\u304c\u3001\u89aa\u304b\u3089\u306e\u907a\u4f1d\u304c\u5831\u544a\u3055\u308c\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059\uff08CNV \u306e\u6bcd\u6027\uff0f\u7236\u6027\u4f1d\u64ad\uff09\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC7606557\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>\u305f\u3060\u3057\u3001\u540c\u3058\u6b20\u5931\u304c\u3042\u3063\u3066\u3082\u75c7\u72b6\u3092\u793a\u3055\u306a\u3044\u5bb6\u65cf\u4f8b\u306e\u5831\u544a\u304c\u3042\u308a\u3001\u300c<strong>\u4e0d\u5b8c\u5168\u6d78\u900f<\/strong>\u300d\u3084\u300c<strong>\u53ef\u5909\u8868\u73fe\u6027<\/strong>\u300d\u304c\u7279\u5fb4\u3067\u3059\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC7606557\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u73fe\u6642\u70b9\u3067\u306f\u3001<strong>16p11.2 deletion (distal) syndrome \u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u6cbb\u7642\u306f\u5b58\u5728\u3057\u307e\u305b\u3093<\/strong>\u3002\u6cbb\u7642\u306f\u5408\u4f75\u75c7\u3084\u75c7\u72b6\u3054\u3068\u306e\u7ba1\u7406\u30fb\u652f\u6301\u7642\u6cd5\uff08\u30b5\u30dd\u30fc\u30c8\u30b1\u30a2\uff09\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09<\/strong>\uff1a\u904b\u52d5\u767a\u9054\u9045\u5ef6\u3084\u5354\u8abf\u904b\u52d5\u306e\u8ab2\u984c\u306b\u5bfe\u5fdc\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\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\uff08ST\uff09<\/strong>\uff1a\u8a00\u8a9e\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u767a\u9054\u652f\u63f4\u3002<\/li>\n\n\n\n<li>\u65e9\u671f\u304b\u3089\u591a\u8077\u7a2e\u9023\u643a\u3067\u4ecb\u5165\u3059\u308b\u3053\u3068\u304c\u3001\u9577\u671f\u7684\u306a\u6a5f\u80fd\u6539\u5584\u306b\u3064\u306a\u304c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u884c\u52d5\u30fb\u7cbe\u795e\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u7642\u6cd5<\/strong>\uff08ASD \u307e\u305f\u306f\u884c\u52d5\u8ab2\u984c\u306b\u5bfe\u3059\u308b\u4ecb\u5165\uff09<\/li>\n\n\n\n<li><strong>\u5fc3\u7406\u30fb\u7cbe\u795e\u79d1\u652f\u63f4<\/strong>\uff08\u4e0d\u5b89\u3001\u6ce8\u610f\u6b20\u9665\u3001\u60c5\u7dd2\u9762\u306e\u30b5\u30dd\u30fc\u30c8\uff09<\/li>\n\n\n\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u3066 <strong>\u85ac\u7269\u7642\u6cd5<\/strong> \u3092\u4f75\u7528\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\uff08\u4f8b\uff1aADHD\u30fb\u3066\u3093\u304b\u3093\u306a\u3069\u81e8\u5e8a\u7684\u8a55\u4fa1\u306b\u5fdc\u3058\u3066\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u3066\u3093\u304b\u3093\u30fb\u795e\u7d4c\u75c7\u72b6\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3066\u3093\u304b\u3093\u304c\u3042\u308b\u5834\u5408\u306f <strong>\u6297\u3066\u3093\u304b\u3093\u85ac\uff08AED\uff09<\/strong> \u306e\u6295\u4e0e<\/li>\n\n\n\n<li>EEG \u306a\u3069\u306e\u691c\u67fb\u3067\u767a\u4f5c\u578b\u3092\u8a55\u4fa1\u3057\u3001\u9069\u5207\u306a\u85ac\u5264\u9078\u629e\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5408\u4f75\u75c7\u30fb\u8eab\u4f53\u75c7\u72b6\u3078\u306e\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u80a5\u6e80\u30fb\u4ee3\u8b1d\u7570\u5e38<\/strong>\uff1a\u6804\u990a\u30fb\u904b\u52d5\u6307\u5c0e\u3001\u751f\u6d3b\u7fd2\u6163\u6539\u5584\u652f\u63f4\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u7570\u5e38<\/strong>\uff1a\u6574\u5f62\u5916\u79d1\u8a55\u4fa1\u30fb\u7ba1\u7406\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u7570\u5e38<\/strong>\uff1a\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5916\u79d1\u7684\u4fee\u6b63\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u5b9a\u671f\u30d5\u30a9\u30ed\u30fc\u3068\u5065\u5eb7\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u80b2\u8a55\u4fa1\uff08\u8eab\u9577\u30fb\u4f53\u91cd\u30fb\u8a00\u8a9e\uff09<\/li>\n\n\n\n<li>\u8996\u899a\u30fb\u8074\u899a\u691c\u67fb<\/li>\n\n\n\n<li>\u7cbe\u795e\u795e\u7d4c\u8a55\u4fa1<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306a\u5185\u79d1\u30fb\u795e\u7d4c\u79d1\u30d5\u30a9\u30ed\u30fc<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>16p11.2 deletion (distal) syndrome<\/strong> \u306f\u300116\u756a\u67d3\u8272\u4f53\u77ed\u8155 p11.2 \u306e distal \u9818\u57df\u3067\u751f\u3058\u308b\u5fae\u5c0f\u6b20\u5931\u306b\u3088\u308b <strong>\u6975\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4<\/strong> \u3067\u3001\u767a\u9054\u9045\u5ef6\u30fb\u77e5\u7684\u969c\u5bb3\u30fb\u8a00\u8a9e\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u969c\u5bb3\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u7279\u6027\u3001\u3066\u3093\u304b\u3093\u3001\u80a5\u6e80\u50be\u5411\u3001\u9aa8\u683c\u7570\u5e38\u306a\u3069\u591a\u5f69\u306a\u81e8\u5e8a\u50cf\u3092\u793a\u3057\u307e\u3059\u3002\u591a\u69d8\u306a\u75c7\u72b6\u306f\u6b20\u5931\u9818\u57df\u306e\u907a\u4f1d\u5b50\u55aa\u5931\u306b\u3088\u308b haploinsufficiency \u304c\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u304c\u3001<strong>\u6d78\u900f\u7387\u304c\u4e0d\u5b8c\u5168\u3067\u53ef\u5909\u8868\u73fe\u6027\u304c\u5927\u304d\u3044<\/strong>\u305f\u3081\u3001\u540c\u3058\u6b20\u5931\u3067\u3082\u75c7\u72b6\u306f\u500b\u4f53\u5dee\u304c\u3042\u308a\u307e\u3059\u3002\u6cbb\u7642\u306f\u6839\u672c\u6cbb\u7642\u3067\u306f\u306a\u304f <strong>\u591a\u8077\u7a2e\u306b\u3088\u308b\u652f\u6301\u7642\u6cd5\u3068\u75c7\u72b6\u7ba1\u7406<\/strong> \u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261222?utm_source=chatgpt.com\">orpha.net<\/a>)<\/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>Orpha.net: <strong>Distal 16p11.2 microdeletion syndrome<\/strong> \u2014 \u75be\u60a3\u6982\u8981\u3002(<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261222?utm_source=chatgpt.com\">orpha.net<\/a>)<\/li>\n\n\n\n<li>NIH GARD: <strong>Distal 16p11.2 microdeletion syndrome<\/strong> \u2014 \u5909\u7570\u3068\u75c7\u72b6\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/17244\/distal-16p112-microdeletion-syndrome?utm_source=chatgpt.com\">rarediseases.info.nih.gov<\/a>)<\/li>\n\n\n\n<li>Simons Searchlight: <strong>16p11.2 Distal Deletion Syndrome<\/strong> \u2014 \u75c7\u72b6\u30b5\u30de\u30ea\u30fc\u3002(<a href=\"https:\/\/www.simonssearchlight.org\/research\/what-we-study\/16p11-2-distal-deletion\/?utm_source=chatgpt.com\">Simons Searchlight<\/a>)<\/li>\n\n\n\n<li>Guha et al. (ClinGen): <strong>16p11.2 recurrent region (distal)<\/strong> \u2014 \u30b1\u30fc\u30b9\/\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u983b\u5ea6\u6bd4\u8f03\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37486?utm_source=chatgpt.com\">ClinGen<\/a>)<\/li>\n\n\n\n<li>Additional neurodevelopment CNV review \u2014 16p11.2 CNV \u306e\u5e83\u3044\u5f71\u97ff\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC7606557\/?utm_source=chatgpt.com\">PMC<\/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-16665","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\/16665","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":4,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16665\/revisions"}],"predecessor-version":[{"id":17615,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16665\/revisions\/17615"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16665"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}