{"id":16659,"date":"2026-01-19T07:44:31","date_gmt":"2026-01-19T07:44:31","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16659"},"modified":"2026-01-20T06:10:18","modified_gmt":"2026-01-20T06:10:18","slug":"15q25-2-q25-3-deletion-distal-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/15q25-2-q25-3-deletion-distal-syndrome\/","title":{"rendered":"15q25.2-q25.3 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>15q25 distal microdeletion \/ distal 15q25.2\u2013q25.3 microdeletion<\/strong>\uff0815q25 \u9060\u4f4d\u5fae\u5c0f\u6b20\u5931\uff09<\/li>\n\n\n\n<li><strong>15q25.2q25.3 recurrent region deletion (distal, LCR C\u2013D deletion)<\/strong>\uff08LCR-C\u301cLCR-D \u9593\u306e\u518d\u767a\u6027\u6b20\u5931\uff09<br>\u203b\u672c\u75be\u60a3\u306f\u300115q25.2q25.3 \u306b\u5b58\u5728\u3059\u308b\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\u914d\u5217\uff08LCR\uff09\u3092\u4ecb\u3057\u305f\u518d\u767a\u6027\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08CNV\uff09\u306e\u3046\u3061\u3001<strong>\u9060\u4f4d\uff08distal\uff09\u9818\u57df\uff1dLCR-C\u301cLCR-D \u9593<\/strong>\u306e\u6b20\u5931\u3092\u6307\u3057\u307e\u3059\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/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>15\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0915q25.2\u2013q25.3\uff1aLCR-C\u301cLCR-D \u9593\u306e\u518d\u767a\u6027\u6b20\u5931\uff08distal\uff09<\/strong>(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/a>)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4ee3\u8868\u7684\u306a\u30b2\u30ce\u30e0\u5ea7\u6a19\uff08ClinGen Dosage Sensitivity\uff09\n<ul class=\"wp-block-list\">\n<li><strong>GRCh37\/hg19\uff1achr15: 85,139,652\u201385,713,001<\/strong><\/li>\n\n\n\n<li><strong>GRCh38\/hg38\uff1achr15: 84,596,421\u201385,169,770<\/strong> (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/a>)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u3053\u306e\u9818\u57df\u306b\u306f LCR\uff08\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\u914d\u5217\uff09\u304c\u8907\u6570\u5b58\u5728\u3057\u3001\u6e1b\u6570\u5206\u88c2\u6642\u306e\u7d44\u63db\u3048\uff08recombination\uff09\u3067\u201c\u305a\u308c\u201d\u304c\u8d77\u304d\u3084\u3059\u304f\u3001\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff08NAHR\uff09\u306b\u3088\u308a\u3001LCR \u306b\u631f\u307e\u308c\u305f\u533a\u9593\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u767a\u751f\u3057\u3084\u3059\u3044\u300c\u30db\u30c3\u30c8\u30b9\u30dd\u30c3\u30c8\u300d\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u8981\u306a\u6ce8\u610f\u70b9\u3068\u3057\u3066\u3001ClinGen \u306f\u300c\u9818\u57df\u5185\u306e\u907a\u4f1d\u5b50\u306f\u30e9\u30f3\u30c9\u30de\u30fc\u30af\u3067\u3042\u308a\u3001\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u65ad\u5b9a\u3067\u304d\u306a\u3044\u300d\u3068\u3057\u3066\u304a\u308a\u3001<strong>\u7279\u5b9a\u306e\u5358\u4e00\u907a\u4f1d\u5b50\u3067\u306f\u306a\u304f\u201c\u9818\u57df\u6b20\u5931\u201d\u3068\u3057\u3066\u306e\u5f71\u97ff<\/strong>\u3001\u3055\u3089\u306b\u53ef\u5909\u8868\u73fe\u6027\uff08\u75c7\u72b6\u306e\u5e45\uff09\u304c\u524d\u63d0\u3068\u306a\u308a\u307e\u3059\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/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><strong>\u4e00\u822c\u96c6\u56e3\u3067\u306e\u6b63\u78ba\u306a\u51fa\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\uff08\u691c\u67fb\u666e\u53ca\u3068\u30c7\u30fc\u30bf\u84c4\u7a4d\u306b\u4f9d\u5b58\uff09\u3002<\/strong><strong><br><\/strong>\u305f\u3060\u3057\u3001\u81e8\u5e8a\u96c6\u56e3\uff08\u767a\u9054\u9045\u5ef6\/\u77e5\u7684\u969c\u5bb3\u3001\u5148\u5929\u7570\u5e38\u306a\u3069\u3067\u691c\u67fb\u3055\u308c\u305f\u96c6\u56e3\uff09\u3067\u306e\u300c\u691c\u51fa\u983b\u5ea6\u300d\u306b\u3064\u3044\u3066\u3001\u4ee5\u4e0b\u306e\u30b1\u30fc\u30b9\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u7814\u7a76\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Coe \u3089\uff082014\uff09\u306e\u5927\u898f\u6a21\u30b1\u30fc\u30b9\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb<\/strong>\uff1a<br>15q25 distal\uff08LCR C\u2013D\uff09\u6b20\u5931\u306f 7\/29,085\uff08\u75c7\u4f8b\uff09 vs 0\/19,584\uff08\u5bfe\u7167\uff09\u3067\u3001\u81e8\u5e8a\u96c6\u56e3\u3067\u306e\u504f\u308a\uff08enrichment\uff09\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u203b\u4e0a\u8a18\u306f\u300c\u51fa\u751f\u983b\u5ea6\u300d\u3067\u306f\u306a\u304f\u3001\u300c\u691c\u67fb\u5bfe\u8c61\u3068\u306a\u3063\u305f\u81e8\u5e8a\u96c6\u56e3\u3067\u306eCNV\u691c\u51fa\u983b\u5ea6\u300d\u306b\u8fd1\u3044\u6307\u6a19\u3067\u3059\u3002\u73fe\u5b9f\u306b\u306f\u3001\u7121\u75c7\u72b6\u301c\u8efd\u75c7\u3067\u898b\u9003\u3055\u308c\u308b\u4f8b\u3082\u3042\u308a\u5f97\u308b\u305f\u3081\u3001\u983b\u5ea6\u306e\u89e3\u91c8\u306b\u306f\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/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>\u672c\u75be\u60a3\u306e\u7279\u5fb4\u306f\u3001<strong>\u795e\u7d4c\u767a\u9054\u30fb\u795e\u7d4c\u7cbe\u795e\u75c7\u72b6\u304c\u4e2d\u5fc3<\/strong>\u3067\u3001\u540c\u3058\u6b20\u5931\u3067\u3082\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\u70b9\u3067\u3059\u3002ClinGen \u306e\u307e\u3068\u3081\u3067\u306f\u3001\u8907\u6570\u4f8b\u306b\u5171\u901a\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u6240\u898b\u3068\u3057\u3066\u4ee5\u4e0b\u304c\u6319\u3052\u3089\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/a>)<\/p>\n\n\n\n<p><strong>1) \u767a\u9054\u30fb\u77e5\u7684\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u5ef6\uff08developmental delay\uff09<\/strong>\uff1a\u8907\u6570\u75c7\u4f8b\u3067\u5831\u544a\uff08\u4f8b\uff1a5\/11 \u306a\u3069\uff09(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/a>)<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08intellectual disability\uff09\/\u5b66\u7fd2\u306e\u56f0\u96e3<\/strong>\uff1a\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u304c\u591a\u3044\u3068\u3055\u308c\u3001\u5b66\u6821\u751f\u6d3b\u3084\u8a00\u8a9e\u767a\u9054\u306b\u5f71\u97ff\u3057\u5f97\u307e\u3059\uff0815q25\u6b20\u5931\u5168\u4f53\u306e\u307e\u3068\u3081\u3068\u3057\u3066\u3082\u4e3b\u8981\u6240\u898b\uff09\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08hypotonia\uff09<\/strong>\uff1a\u8907\u6570\u75c7\u4f8b\u3067\u5831\u544a\u3055\u308c\u3001\u7c97\u5927\u904b\u52d5\u306e\u9045\u308c\u30fb\u75b2\u308c\u3084\u3059\u3055\u306b\u3064\u306a\u304c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>2) \u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u30fb\u884c\u52d5\/\u7cbe\u795e\u75c7\u72b6\uff08\u9060\u4f4d\u6b20\u5931\u3067\u76f8\u5bfe\u7684\u306b\u591a\u3044\u3068\u3055\u308c\u308b\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09<\/strong>\uff1a\u8907\u6570\u75c7\u4f8b\u3067\u5831\u544a\uff08\u4f8b\uff1a4\/11\u3001\u5225\u89e3\u6790\u3067\u306f 2\/5 \u306a\u3069\uff09\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/a>)<\/li>\n\n\n\n<li><strong>\u7d71\u5408\u5931\u8abf\u75c7\u306a\u3069\u306e\u795e\u7d4c\u7cbe\u795e\u75c7\u72b6<\/strong>\uff1a\u5831\u544a\u4f8b\u304c\u3042\u308a\u3001ClinGen \u306f\u300c\u8868\u73fe\u578b\u306f\u975e\u7279\u7570\u7684\u3067\u5909\u52d5\u3059\u308b\u300d\u3068\u3057\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/a>)<\/li>\n\n\n\n<li>RareChromo\uff08Unique\uff09\u306e\u60c5\u5831\u3067\u306f\u3001\u201c\u795e\u7d4c\u7cbe\u795e\u75be\u60a3\u306f\u9060\u4f4d\u9818\u57df\u3092\u542b\u3080\u6b20\u5931\u3067\u3088\u308a\u591a\u3044\u53ef\u80fd\u6027\u201d\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3) \u3051\u3044\u308c\u3093\u30fb\u3066\u3093\u304b\u3093<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u4f5c\/\u3051\u3044\u308c\u3093\uff08seizures\uff09<\/strong>\uff1a\u8907\u6570\u75c7\u4f8b\u3067\u5831\u544a\uff08\u4f8b\uff1a2\/11\uff09\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/a>)<\/li>\n\n\n\n<li>RareChromo \u3067\u3082\u3001\u201c\u767a\u4f5c\u306f\u9060\u4f4d\u9818\u57df\u3092\u542b\u3080\u6b20\u5931\u3067\u3088\u308a\u591a\u3044\u53ef\u80fd\u6027\u201d\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4) \u773c\u79d1\uff08\u659c\u8996\u306a\u3069\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u659c\u8996\uff08strabismus\uff09<\/strong>\uff1aRareChromo \u306b\u3066\u3001\u9060\u4f4d\u9818\u57df\u3092\u542b\u3080\u6b20\u5931\u3067\u6bd4\u8f03\u7684\u591a\u3044\u53ef\u80fd\u6027\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5) \u5f62\u614b\u30fb\u305d\u306e\u4ed6\uff08\u4f8b\uff1a\u5831\u544a\u306b\u57fa\u3065\u304f\u201c\u8d77\u3053\u308a\u5f97\u308b\u201d\u6240\u898b\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ClinGen \u306b\u5f15\u7528\u3055\u308c\u305f\u75c7\u4f8b\u5831\u544a\u306e\u5177\u4f53\u4f8b\u3068\u3057\u3066\u3001\u767a\u9054\u9045\u5ef6\u30fb\u77e5\u7684\u969c\u5bb3\u30fb\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u30fb\u767a\u4f5c\u306b\u52a0\u3048\u3001\u982d\u84cb\u5f62\u614b\uff08\u659c\u982d\/\u5c0f\u982d\uff09\u3001\u9854\u8c8c\u3001\u624b\u6307\u62d8\u7e2e\uff08camptodactyly\uff09\u3001\u505c\u7559\u7cbe\u5de3\u3001\u611f\u67d3\u3092\u7e70\u308a\u8fd4\u3059\u3001\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305f\u3060\u3057\u3001\u3053\u306e\u4f8b\u306f\u4ed6\u306eCNV\u3082\u4f75\u5b58\u3057\u3066\u304a\u308a\u3001\u5358\u72ec\u6b20\u5931\u306e\u6240\u898b\u3068\u3057\u3066\u306f\u614e\u91cd\u306b\u89e3\u91c8\u3055\u308c\u307e\u3059\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>15q25.2\u2013q25.3\uff08distal\uff1aLCR-C\u301cLCR-D\uff09\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\uff08\u30b3\u30d4\u30fc\u6570\u6e1b\u5c11\uff09\u304c\u539f\u56e0\u3067\u3059\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/a>)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u751f\u6a5f\u5e8f\uff1a15q25 \u306b\u306f LCR \u304c\u5b58\u5728\u3057\u3001\u6e1b\u6570\u5206\u88c2\u306e\u7d44\u63db\u3048\u6642\u306b\u201c\u305a\u308c\u201d\u304c\u751f\u3058\u308b\u3053\u3068\u3067\u3001NAHR\uff08\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff09\u306b\u3088\u308a LCR \u306b\u631f\u307e\u308c\u305f\u9818\u57df\u304c\u6b20\u5931\u3057\u5f97\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u907a\u4f1d\u5f62\u5f0f\uff1ade novo\uff08\u65b0\u751f\uff09\u3082\u907a\u4f1d\u3082\u4e21\u65b9\u3042\u308a\u5f97\u307e\u3059\u3002ClinGen \u3067\u306f\u3001\u9060\u4f4d\u6b20\u5931\u304c\u5bb6\u65cf\u5185\u3067\u907a\u4f1d\u3057\u3066\u3044\u305f\u4f8b\u3082\u793a\u3055\u308c\u3001\u6d78\u900f\u7387\u304c\u4e0d\u5b8c\u5168\uff08\u6301\u3063\u3066\u3044\u3066\u3082\u75c7\u72b6\u304c\u76ee\u7acb\u305f\u306a\u3044\u5834\u5408\uff09\u3067\u3001<strong>\u53ef\u5909\u8868\u73fe\u6027\u304c\u5927\u304d\u3044<\/strong>\u3053\u3068\u304c\u91cd\u8981\u306a\u7279\u5fb4\u3067\u3059\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/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\u3001\u3053\u306e\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u5143\u306b\u623b\u3059<strong>\u6839\u672c\u6cbb\u7642\uff08\u539f\u56e0\u6cbb\u7642\uff09\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093<\/strong>\u3002\u6cbb\u7642\u306e\u4e2d\u5fc3\u306f\u3001\u75c7\u72b6\u306b\u5fdc\u3058\u305f<strong>\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u652f\u6301\u7642\u6cd5\u30fb\u5408\u4f75\u75c7\u7ba1\u7406<\/strong>\u3067\u3059\uff08\u4ee5\u4e0b\u306f\u30b5\u30a4\u30c8\u63b2\u8f09\u5411\u3051\u306b\u6574\u7406\uff09\u3002<\/p>\n\n\n\n<p><strong>1) \u767a\u9054\u652f\u63f4\uff08\u65e9\u671f\u4ecb\u5165\u304c\u91cd\u8981\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u304b\u3089\u306e\u767a\u9054\u8a55\u4fa1\uff08\u904b\u52d5\u30fb\u8a00\u8a9e\u30fb\u8a8d\u77e5\uff09<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09<\/strong>\uff1a\u7c97\u5927\u904b\u52d5\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3078\u306e\u5bfe\u5fdc<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09<\/strong>\uff1a\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u3001\u611f\u899a\u9762\u306e\u8ab2\u984c<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09<\/strong>\uff1a\u8a00\u8a9e\u767a\u9054\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4<br>\u767a\u9054\u9045\u5ef6\u3084\u5b66\u7fd2\u306e\u56f0\u96e3\u304c\u4e3b\u8981\u6240\u898b\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u65e9\u671f\u304b\u3089\u652f\u63f4\u8a08\u753b\u3092\u7acb\u3066\u308b\u3053\u3068\u304c\u5b9f\u52d9\u4e0a\u91cd\u8981\u3067\u3059\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>2) \u884c\u52d5\u30fb\u767a\u9054\u7279\u6027\uff08ASD\/\u6ce8\u610f\u30fb\u60c5\u7dd2\u9762\uff09\u306e\u8a55\u4fa1\u3068\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ASD \u306a\u3069\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3001\u5fc3\u7406\u8a55\u4fa1<\/li>\n\n\n\n<li>\u74b0\u5883\u8abf\u6574\uff08\u5b66\u6821\u30fb\u5bb6\u5ead\uff09\u3001\u884c\u52d5\u7642\u6cd5\u3001\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/li>\n\n\n\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5150\u7ae5\u7cbe\u795e\u79d1\/\u767a\u9054\u5916\u6765\u3067\u85ac\u7269\u7642\u6cd5\uff08\u75c7\u72b6\u306b\u5fdc\u3058\u500b\u5225\u5224\u65ad\uff09<br>\u9060\u4f4d\u6b20\u5931\u3067\u306f\u795e\u7d4c\u7cbe\u795e\u75c7\u72b6\u304c\u76f8\u5bfe\u7684\u306b\u591a\u3044\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u8a55\u4fa1\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3) \u3066\u3093\u304b\u3093\uff08\u767a\u4f5c\uff09\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u4f5c\u304c\u7591\u308f\u308c\u308b\u5834\u5408\uff1a\u8133\u6ce2\uff08EEG\uff09\u8a55\u4fa1<\/li>\n\n\n\n<li>\u8a3a\u65ad\u3055\u308c\u305f\u5834\u5408\uff1a\u767a\u4f5c\u578b\u306b\u5fdc\u3058\u305f\u6297\u3066\u3093\u304b\u3093\u85ac\uff08AED\uff09<br>\u767a\u4f5c\u306f\u672c\u75be\u60a3\u3067\u8907\u6570\u5831\u544a\u304c\u3042\u308a\u3001\u9060\u4f4d\u6b20\u5931\u3067\u591a\u3044\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>4) \u773c\u79d1\u30d5\u30a9\u30ed\u30fc\uff08\u659c\u8996\u306a\u3069\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u659c\u8996\u306e\u8a55\u4fa1\u3001\u8996\u529b\u30fb\u5c48\u6298\u691c\u67fb<\/li>\n\n\n\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u773c\u93e1\u3001\u8996\u80fd\u8a13\u7df4\u3001\u5916\u79d1\u7684\u6cbb\u7642\u306e\u691c\u8a0e<br>\u659c\u8996\u304c\u9060\u4f4d\u6b20\u5931\u3067\u591a\u3044\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\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\u7bc4\u56f2\uff08CMA \u7b49\u3067\u306e\u5ea7\u6a19\uff09\u3068\u8868\u73fe\u578b\u306e\u5e45\u306e\u8aac\u660e<\/li>\n\n\n\n<li>\u5bb6\u65cf\u691c\u67fb\uff08\u5fc5\u8981\u306b\u5fdc\u3058\u3066\uff09<\/li>\n\n\n\n<li>\u6b21\u56de\u598a\u5a20\u6642\u306e\u518d\u767a\u30ea\u30b9\u30af\u8a55\u4fa1<br>\u672c\u9818\u57df\u306f\u907a\u4f1d\u4f8b\u3082\u3042\u308a\u3001\u7121\u75c7\u72b6\u4fdd\u56e0\u306e\u53ef\u80fd\u6027\u3082\u542b\u3081\u3066\u8aac\u660e\u304c\u5fc5\u8981\u3067\u3059\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081\uff08\u30b5\u30a4\u30c8\u5411\u3051\uff09<\/strong><\/h2>\n\n\n\n<p><strong>15q25.2-q25.3 deletion (distal) syndrome<\/strong>\u306f\u300115\u756a\u67d3\u8272\u4f5315q25.2\u301c15q25.3\u306e<strong>\u9060\u4f4d\uff08distal\uff09\u9818\u57df\uff1dLCR-C\u301cLCR-D\u9593<\/strong>\u306b\u751f\u3058\u308b\u518d\u767a\u6027\u306e\u5fae\u5c0f\u6b20\u5931\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002\u6b20\u5931\u306fLCR\u3092\u4ecb\u3057\u305f<strong>\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff08NAHR\uff09\u3067\u751f\u3058\u3084\u3059\u304f\u3001\u540c\u3058\u6b20\u5931\u3067\u3082\u75c7\u72b6\u304c\u8efd\u3044\u4f8b\u304b\u3089\u652f\u63f4\u3092\u8981\u3059\u308b\u4f8b\u307e\u3067\u5e45\u304c\u3042\u308b\u53ef\u5909\u8868\u73fe\u6027<\/strong>\u304c\u7279\u5fb4\u3067\u3059\u3002\u4e3b\u306a\u81e8\u5e8a\u50cf\u306f<strong>\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\/\u5b66\u7fd2\u306e\u56f0\u96e3\u3001ASD\u306a\u3069\u306e\u795e\u7d4c\u767a\u9054\u30fb\u795e\u7d4c\u7cbe\u795e\u75c7\u72b6\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b<\/strong>\u3067\u3001\u3055\u3089\u306b<strong>\u767a\u4f5c\uff08\u3051\u3044\u308c\u3093\uff09\u3084\u659c\u8996<\/strong>\u306f\u9060\u4f4d\u6b20\u5931\u3092\u542b\u3080\u4f8b\u3067\u6bd4\u8f03\u7684\u591a\u3044\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4e00\u822c\u96c6\u56e3\u3067\u306e\u51fa\u751f\u983b\u5ea6\u306f\u672a\u78ba\u7acb\u3067\u3059\u304c\u3001\u81e8\u5e8a\u96c6\u56e3\u306e\u5927\u898f\u6a21\u89e3\u6790\u3067\u306f\u672c\u6b20\u5931\u304c\u75c7\u4f8b\u7fa4\u3067\u691c\u51fa\u3055\u308c\u3001\u5bfe\u7167\u7fa4\u3067\u691c\u51fa\u3055\u308c\u306a\u3044\u3068\u3044\u3046\u504f\u308a\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6cbb\u7642\u306f\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u6cbb\u3059\u6839\u672c\u6cbb\u7642\u3067\u306f\u306a\u304f\u3001<strong>\u7642\u80b2\uff08PT\/OT\/ST\uff09\u3001\u884c\u52d5\u30fb\u5fc3\u7406\u652f\u63f4\u3001\u3066\u3093\u304b\u3093\u7ba1\u7406\u3001\u773c\u79d1\u30d5\u30a9\u30ed\u30fc<\/strong>\u306a\u3069\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u591a\u8077\u7a2e\u9023\u643a\u306e\u652f\u6301\u7642\u6cd5\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/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>ClinGen Dosage Sensitivity Curation\uff1a<strong>15q25.2q25.3 recurrent region (distal, LCR C\u2013LCR D)<\/strong>\uff08\u5ea7\u6a19\u3001\u6a5f\u5e8f\u3001\u75c7\u4f8b\u96c6\u7a4d\u3001\u30b1\u30fc\u30b9\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u7d50\u679c\u306e\u8981\u7d04\uff09(<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37514\">ClinGen<\/a>)<\/li>\n\n\n\n<li>RareChromo \/ Unique\uff1a<strong>15q25 deletions\uff082022\uff09<\/strong>\uff08LCR\u3068NAHR\u306e\u8aac\u660e\u300115q25\u6b20\u5931\u306e\u5171\u901a\u7279\u5fb4\u3001\u9060\u4f4d\u6b20\u5931\u3067\u591a\u3044\u7279\u5fb4\u306e\u793a\u5506\uff09<\/li>\n\n\n\n<li>Doelken SC, et al.\uff082013\uff09<strong>Proximal and distal 15q25.2 microdeletions\u2026<\/strong>\uff08\u75c7\u4f8b\u5831\u544a\u3068\u65e2\u5831\u75c7\u4f8b\u306e\u307e\u3068\u3081\uff1a\u767a\u9054\u9045\u5ef6\u3001ASD\u3001\u767a\u4f5c\u306a\u3069\uff09(<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23239641\/\">PubMed<\/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-16659","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\/16659","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\/16659\/revisions"}],"predecessor-version":[{"id":16847,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16659\/revisions\/16847"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16659"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}