{"id":16662,"date":"2026-01-19T07:49:07","date_gmt":"2026-01-19T07:49:07","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16662"},"modified":"2026-01-20T06:06:37","modified_gmt":"2026-01-20T06:06:37","slug":"15q26-qter-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/15q26-qter-deletion-syndrome\/","title":{"rendered":"15q26-qter deletion syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<p>15q26-qter deletion syndrome \u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5225\u540d\u30fb\u95a2\u9023\u540d\u3067\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Distal monosomy 15q \/ Distal 15q deletion syndrome<\/strong> \u2014 15q\u9060\u4f4d\u5074\u6b20\u5931\u75c7\u5019\u7fa4\uff3bOrphanet\/u Rare Disorders\uff3d(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li><strong>Chromosome 15q26-qter deletion syndrome<\/strong> \u2014 15\u756a\u67d3\u8272\u4f53 q26\u304b\u3089\u672b\u7aef\u307e\u3067\u306e\u6b20\u5931\u3092\u793a\u3059\u8a18\u8f09\u540d\uff08NM_OMIM: 612626\uff09(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li><strong>Telomeric 15q deletion syndrome<\/strong> \u2014 \u30c6\u30ed\u30e1\u30a2\uff08\u672b\u7aef\uff09\u307e\u3067\u306e\u6b20\u5931\u3092\u793a\u3059\u5225\u79f0(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li><strong>Drayer syndrome<\/strong> \u2014 \u53e4\u3044\u6587\u732e\u3084\u4e00\u90e8\u81e8\u5e8a\u8cc7\u6599\u3067\u4f7f\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u547c\u79f0\u3067\u300115q26\u6b20\u5931\u3092\u542b\u3080\u5f8c\u671f\u5831\u544a\u306b\u95a2\u9023\u3059\u308b\u540d\u79f0\u3068\u3057\u3066\u5f15\u7528\u3055\u308c\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/academia.carenet.com\/share\/news\/bf65cce5-6de9-4d12-a186-2fe676c8de4e?utm_source=chatgpt.com\">CareNet Academia<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f <strong>\u67d3\u8272\u4f53\u90e8\u5206\u6b20\u5931\uff08\u90e8\u5206\u30e2\u30ce\u30bd\u30df\u30fc\uff09<\/strong> \u306b\u5c5e\u3057\u3001\u6b20\u5931\u306e\u958b\u59cb\u4f4d\u7f6e\u304c q26 \u9818\u57df\u3067\u3042\u308a\u3001qter\uff08\u7d42\u7aef\uff09\u307e\u3067\u306e\u907a\u4f1d\u5b50\u304c1\u30b3\u30d4\u30fc\u6b20\u640d\u3059\u308b\u69cb\u9020\u7570\u5e38\u3067\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/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>\u672c\u75be\u60a3\u306f\u3001<strong>\u30d2\u30c8\u7b2c15\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff09\u306e distal\uff08\u9060\u4f4d\uff09\u5074\u3001q26\u301cqter \u9818\u57df\u306b\u304a\u3051\u308b\u6b20\u5931\uff08deletion\uff09<\/strong> \u306b\u3088\u308a\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<br>\u5177\u4f53\u7684\u306b\u306f\u300115q26.1\u301cq26.3 \u301c qter \u307e\u3067\u306e\u907a\u4f1d\u5b50\u304c <strong>1\u30b3\u30d4\u30fc\u55aa\u5931\uff08haploinsufficiency\uff09<\/strong> \u3068\u306a\u308b\u69cb\u9020\u7570\u5e38\u3067\u3001\u6b20\u5931\u3055\u308c\u308b\u9818\u57df\u306e\u30b5\u30a4\u30ba\u3084\u30d6\u30ec\u30a4\u30af\u30dd\u30a4\u30f3\u30c8\u306b\u3088\u3063\u3066\u5f71\u97ff\u7bc4\u56f2\u3084\u75c7\u72b6\u306e\u91cd\u75c7\u5ea6\u304c\u7570\u306a\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f <strong>IGF1R\uff08\u30a4\u30f3\u30b9\u30ea\u30f3\u69d8\u6210\u9577\u56e0\u5b50 1 \u53d7\u5bb9\u4f53\uff09\u907a\u4f1d\u5b50\u3084 NR2F2 \u907a\u4f1d\u5b50<\/strong> \u306a\u3069\u3001\u6210\u9577\u30fb\u767a\u9054\u30fb\u5fc3\u81d3\u5f62\u6210\u306b\u95a2\u4e0e\u3059\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.mdpi.com\/2673-396X\/3\/1\/8?utm_source=chatgpt.com\">MDPI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>15q26-qter deletion syndrome \u306f\u975e\u5e38\u306b\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75be\u60a3\u3067\u3001\u4e00\u822c\u96c6\u56e3\u306b\u304a\u3051\u308b\u51fa\u751f\u983b\u5ea6\u306f <strong>1\/1,000,000 \u672a\u6e80\u306e\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3<\/strong> \u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/p>\n\n\n\n<p>\u75c7\u4f8b\u5831\u544a\u3084\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u3088\u308c\u3070\u3001\u591a\u304f\u306e\u30b1\u30fc\u30b9\u304c <strong>\u5358\u767a\u4f8b\uff08\u5b64\u767a\u4f8b\uff09<\/strong> \u3067\u3001\u5bb6\u65cf\u5185\u3067\u306e\u907a\u4f1d\uff08\u4fdd\u56e0\u89aa\u306e\u7570\u5e38\uff09\u3088\u308a\u3082\u3001\u67d3\u8272\u4f53\u5f62\u6210\u6642\u306e\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09\u3068\u3057\u3066\u5076\u767a\u7684\u306b\u751f\u3058\u308b\u3053\u3068\u304c\u591a\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u8a73\u7d30\u306a\u7d71\u8a08\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/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>15q26-qter deletion syndrome \u306f\u3001\u6b20\u5931\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u591a\u6570\u306e\u91cd\u8981\u907a\u4f1d\u5b50\u306e\u55aa\u5931\u304c\u767a\u9054\u30fb\u6210\u9577\u30fb\u5f62\u614b\u5f62\u6210\u306b\u5f71\u97ff\u3059\u308b\u3053\u3068\u304b\u3089\u3001\u591a\u5f69\u306a\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002\u75c7\u72b6\u306f<strong>\u500b\u4eba\u5dee\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\u304c\u5927\u304d\u3044<\/strong>\u3067\u3059\u304c\u3001\u5178\u578b\u7684\u306b\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u81e8\u5e8a\u50cf\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\uff08IUGR\uff09\u30fb\u51fa\u751f\u4f53\u91cd\u4f4e\u5024<\/strong><strong><br><\/strong>\u591a\u304f\u306e\u75c7\u4f8b\u3067\u3001\u80ce\u5150\u671f\u304b\u3089\u6210\u9577\u304c\u5236\u9650\u3055\u308c\u3001\u51fa\u751f\u6642\u306b <strong>\u4f4e\u4f53\u91cd\u30fb\u4f4e\u8eab\u9577<\/strong> \u304c\u8a8d\u3081\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/conditions\/C2675463?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u51fa\u751f\u5f8c\u306e\u6210\u9577\u4e0d\u8db3\uff08\u6210\u9577\u9045\u5ef6\uff09<\/strong><strong><br><\/strong>\u751f\u5f8c\u3082\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u5897\u52a0\u304c\u9045\u308c\u3001\u6a19\u6e96\u66f2\u7dda\u304b\u3089\u5927\u304d\u304f\u4e56\u96e2\u3059\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.mdpi.com\/2673-396X\/3\/1\/8?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u3001<strong>IGF1R\uff08\u30a4\u30f3\u30b9\u30ea\u30f3\u69d8\u6210\u9577\u56e0\u5b50 1 \u53d7\u5bb9\u4f53\uff09\u907a\u4f1d\u5b50<\/strong> \u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff081\u30b3\u30d4\u30fc\u6b20\u5931\uff09\u304c\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001IGF1R \u7d4c\u8def\u306f\u9aa8\u30fb\u7d30\u80de\u306e\u6210\u9577\u3084\u795e\u7d4c\u7cfb\u767a\u9054\u306b\u91cd\u8981\u306a\u5f79\u5272\u3092\u62c5\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.mdpi.com\/2673-396X\/3\/1\/8?utm_source=chatgpt.com\">MDPI<\/a>)<\/p>\n\n\n\n<p><strong>2. \u795e\u7d4c\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><strong><br><\/strong>\u904b\u52d5\u767a\u9054\u3084\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u3092\u4f34\u3046\u4f8b\u304c\u591a\u6570\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08intellectual disability\uff09<\/strong><strong><br><\/strong>\u8efd\u5ea6\u301c\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u60a3\u8005\u3067\u77e5\u7684\u6a5f\u80fd\u306e\u4f4e\u4e0b\u304c\u89b3\u5bdf\u3055\u308c\u307e\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\u69d8\u306e\u7279\u6027<\/strong> \u3084\u884c\u52d5\u9762\u306e\u8ab2\u984c\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\uff08\u500b\u4eba\u5dee\u3042\u308a\uff09\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u982d\u84cb\u30fb\u9854\u8c8c\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>\u591a\u6570\u306e\u60a3\u8005\u3067 <strong>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u9854\u8c8c\u7570\u5e38<\/strong> \u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fae\u5c0f\u982d\u75c7\uff08\u5c0f\u982d\uff09<\/strong> \u2014 \u982d\u56f2\u304c\u5e74\u9f62\u5e73\u5747\u3088\u308a\u660e\u3089\u304b\u306b\u5c0f\u3055\u3044\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li><strong>\u4e09\u89d2\u5f62\u72b6\u306e\u9854\uff08triangular face\uff09<\/strong> \u2014 \u9854\u9762\u5f62\u614b\u306e\u7279\u5fb4\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li><strong>\u5e83\u3044\u9f3b\u6a4b<\/strong>\uff08broad nasal bridge\uff09\u3084<strong>\u5c0f\u984e\uff08micrognathia\uff09<\/strong> \u2014 \u4e0b\u984e\u304c\u5c0f\u3055\u3081\u306a\u3069\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u56db\u80a2\u30fb\u722a\u30fb\u8db3\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>15q26\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u306f\u56db\u80a2\u3084\u624b\u8db3\u306e\u69cb\u9020\u7570\u5e38\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77ed\u6307\u30fb\u66f2\u6307\uff08brachydactyly\/clinodactyly\uff09<\/strong> \u2014 \u624b\u8db3\u306e\u6307\u304c\u77ed\u3044\u3001\u6e7e\u66f2\u3057\u3066\u3044\u308b\u306a\u3069\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li><strong>\u8db3\u90e8\u7570\u5e38\uff08clubfoot, talipes equinovarus\uff09<\/strong> \u2014 \u8db3\u306e\u5f62\u614b\u7570\u5e38\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li><strong>\u722a\u306e\u767a\u80b2\u4e0d\u5168\uff08nail hypoplasia\uff09<\/strong> \u2014 \u722a\u304c\u8584\u3044\u3001\u6b20\u640d\u304c\u3042\u308b\u306a\u3069\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u5148\u5929\u6027\u5947\u5f62\u30fb\u5185\u79d1\u7684\u5408\u4f75<\/strong><\/p>\n\n\n\n<p>\u305d\u306e\u4ed6\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5947\u5f62\u3084\u5408\u4f75\u75c7\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u8868\u73fe\u578b\u306b\u306f\u3070\u3089\u3064\u304d\u304c\u3042\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/strong>\uff08\u4f8b\uff1a\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u3001\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u306a\u3069\uff09(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/conditions\/C2675463?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u30ea\u30f3\u30d1\u6d6e\u816b\uff08neonatal lymphedema\uff09<\/strong> \u2014 \u65b0\u751f\u5150\u671f\u306e\u3080\u304f\u307f\u75c7\u72b6\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li><strong>\u5916\u76ae\u6b20\u640d\uff08aplasia cutis congenita\uff09<\/strong> \u2014 \u76ae\u819a\u5f62\u6210\u306e\u6b20\u640d\u4f8b\u3042\u308a\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li><strong>\u5927\u52d5\u8108\u57fa\u90e8\u62e1\u5f35\u3001\u814e\u5947\u5f62<\/strong> \u306a\u3069\u5185\u81d3\u5947\u5f62\u306e\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>15q26-qter deletion syndrome \u306e\u6839\u672c\u7684\u306a\u539f\u56e0\u306f\u300115\u756a\u67d3\u8272\u4f53\u9577\u8155 q26 \u9818\u57df\u304b\u3089\u672b\u7aef\uff08qter\uff09\u306b\u304b\u3051\u3066\u306e\u5fae\u5c0f\u6b20\u5931\uff08terminal deletion\uff09\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u907a\u4f1d\u7684\u6a5f\u5e8f\u306f\u4e3b\u306b\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b20\u5931\uff08deletion\uff09<\/strong> \u2014 \u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3057\u307e\u3046\u69cb\u9020\u7570\u5e38\u3067\u30011\u30b3\u30d4\u30fc\u3042\u3063\u305f\u907a\u4f1d\u60c5\u5831\uff08\u907a\u4f1d\u5b50\uff09\u304c\u6b20\u5931\u3057\u3001<strong>\u6b63\u5e38\u306a\u6a5f\u80fd\u3092\u679c\u305f\u3059\u306b\u306f\u4e0d\u5341\u5206\u306a\u72b6\u614b\uff08haploinsufficiency\uff09<\/strong> \u3068\u306a\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.mdpi.com\/2673-396X\/3\/1\/8?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li>\u5178\u578b\u7684\u306b\u306f <strong>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09<\/strong> \u3068\u3057\u3066\u767a\u751f\u3057\u3001\u89aa\u306e\u67d3\u8272\u4f53\u306b\u306f\u7570\u5e38\u304c\u306a\u304f\u3001\u598a\u5a20\u3084\u914d\u5076\u8005\u9078\u3073\u3068\u306f\u7121\u95a2\u4fc2\u306b\u5076\u767a\u7684\u306b\u8d77\u3053\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li>\u6b20\u5931\u9818\u57df\u306b\u542b\u307e\u308c\u308b <strong>IGF1R<\/strong> \u907a\u4f1d\u5b50\u3084 <strong>NR2F2<\/strong> \u306a\u3069\u304c\u3001\u6210\u9577\u3084\u5fc3\u81d3\u5f62\u6210\u30fb\u795e\u7d4c\u767a\u9054\u3068\u95a2\u9023\u3057\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u304c1\u30b3\u30d4\u30fc\u3057\u304b\u306a\u3044\u3053\u3068\u304c\u75c7\u72b6\u767a\u73fe\u306b\u5bc4\u4e0e\u3057\u307e\u3059\u3002(<a href=\"https:\/\/www.mdpi.com\/2673-396X\/3\/1\/8?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>IGF1R \u306f <strong>\u30a4\u30f3\u30b9\u30ea\u30f3\u69d8\u6210\u9577\u56e0\u5b50 1 \u53d7\u5bb9\u4f53<\/strong> \u3067\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\/IGF \u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7d4c\u8def\u306b\u5fc5\u9808\u3067\u3042\u308a\u3001\u6b20\u5931\u306b\u3088\u308a <strong>\u80ce\u5150\u671f\u30fb\u51fa\u751f\u5f8c\u306e\u6210\u9577\u9045\u5ef6<\/strong> \u304c\u751f\u3058\u308b\u4e3b\u8981\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.mdpi.com\/2673-396X\/3\/1\/8?utm_source=chatgpt.com\">MDPI<\/a>)<br>NR2F2 \u306f <strong>\u6838\u53d7\u5bb9\u4f53\u30d5\u30a1\u30df\u30ea\u30fc<\/strong> \u306e1\u3064\u3067\u3001\u5fc3\u81d3\u3084\u5185\u81d3\u306e\u5f62\u6210\u306b\u95a2\u4e0e\u3057\u3001\u5fc3\u5947\u5f62\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.mdpi.com\/2673-396X\/3\/1\/8?utm_source=chatgpt.com\">MDPI<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u73fe\u5728\u3001<strong>15q26-qter deletion syndrome \u81ea\u4f53\u3092\u6cbb\u7652\u3059\u308b\u6839\u672c\u6cbb\u7642\uff08\u907a\u4f1d\u5b50\u6cbb\u7642\uff09\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093<\/strong>\u3002\u6cbb\u7642\u306f\u4e3b\u306b <strong>\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u652f\u6301\u7642\u6cd5\u30fb\u5408\u4f75\u75c7\u7ba1\u7406\u30fb\u767a\u9054\u652f\u63f4<\/strong> \u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u652f\u63f4\u30fb\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/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\u306e\u9045\u308c\u3084\u7b4b\u529b\u4f4e\u4e0b\u3078\u306e\u652f\u63f4\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09<\/strong>\uff1a\u65e5\u5e38\u52d5\u4f5c\u3084\u611f\u899a\u7d71\u5408\u652f\u63f4\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09<\/strong>\uff1a\u8a00\u8a9e\u767a\u9054\u9045\u5ef6\u30fb\u56a5\u4e0b\u8ab2\u984c\u3078\u306e\u4ecb\u5165\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u65e9\u671f\u304b\u3089\u7d99\u7d9a\u7684\u306b\u5b9f\u65bd\u3059\u308b\u3053\u3068\u3067 <strong>\u767a\u9054\u9045\u6ede\u306e\u7de9\u548c\u3068\u751f\u6d3b\u6a5f\u80fd\u306e\u5411\u4e0a<\/strong>\u306b\u5bc4\u4e0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u533b\u7642\u7684\u7ba1\u7406\u30fb\u5408\u4f75\u75c7\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5fc3\u5947\u5f62\u306e\u6cbb\u7642<\/strong>\uff1a\u5faa\u74b0\u5668\u5c02\u9580\u533b\u306b\u3088\u308b\u8a55\u4fa1\u30fb\u6cbb\u7642\uff08\u624b\u8853\u30fb\u85ac\u7269\u7642\u6cd5\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30f3\u30d1\u6d6e\u816b\u306e\u7ba1\u7406<\/strong>\uff1a\u3080\u304f\u307f\u3084\u30ea\u30f3\u30d1\u5faa\u74b0\u969c\u5bb3\u3078\u306e\u5bfe\u51e6\u3002<\/li>\n\n\n\n<li><strong>\u76ae\u819a\u6b20\u640d\uff08aplasia cutis\uff09<\/strong>\uff1a\u5275\u50b7\u30b1\u30a2\u3084\u5f62\u6210\u5916\u79d1\u5bfe\u5fdc\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577\u8a55\u4fa1\u3068\u7ba1\u7406<\/strong>\uff1a\u5c0f\u5150\u5185\u5206\u6ccc\u79d1\u306b\u3088\u308b\u6210\u9577\u8a55\u4fa1\u3001\u6804\u990a\u7ba1\u7406\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6559\u80b2\u30fb\u652f\u63f4\u5236\u5ea6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7279\u5225\u652f\u63f4\u6559\u80b2\u8a08\u753b\uff08IEP\uff09<\/strong> \u306e\u4f5c\u6210\u3068\u652f\u63f4\u3002<\/li>\n\n\n\n<li>\u793e\u4f1a\u798f\u7949\u5236\u5ea6\u306e\u6d3b\u7528\uff08\u533b\u7642\u8cbb\u52a9\u6210\u3001\u6559\u80b2\u652f\u63f4\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li>\u5bb6\u65cf\u5411\u3051\u5fc3\u7406\u793e\u4f1a\u652f\u63f4\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>15q26-qter deletion syndrome<\/strong> \u306f\u300115\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e q26 \u9818\u57df\u304b\u3089\u672b\u7aef\uff08qter\uff09\u307e\u3067\u306e\u907a\u4f1d\u5b50\u304c\u6b20\u5931\u3059\u308b <strong>\u7a00\u306a\u90e8\u5206\u6b20\u5931\u75c7\u5019\u7fa4<\/strong> \u3067\u3059\u3002\u4e3b\u306a\u81e8\u5e8a\u7279\u5fb4\u3068\u3057\u3066\u3001<strong>\u80ce\u5150\u671f\u304a\u3088\u3073\u51fa\u751f\u5f8c\u306e\u6210\u9577\u9045\u5ef6\u30fb\u767a\u80b2\u9045\u5ef6\u30fb\u77e5\u7684\u969c\u5bb3\u30fb\u5fae\u5c0f\u982d\u75c7\u30fb\u9854\u8c8c\u7570\u5e38\u30fb\u56db\u80a2\u7570\u5e38\u30fb\u5148\u5929\u6027\u5947\u5f62<\/strong> \u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u7279\u306b IGF1R \u907a\u4f1d\u5b50\u306e\u55aa\u5931\u306f\u6210\u9577\u9045\u5ef6\u306e\u4e3b\u8981\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u6cbb\u7642\u306f<strong>\u6839\u672c\u7684\u306a\u907a\u4f1d\u5b50\u4fee\u5fa9\u3067\u306f\u306a\u304f\u3001\u5404\u75c7\u72b6\u30fb\u5408\u4f75\u75c7\u306e\u7ba1\u7406\u3068\u767a\u9054\u652f\u63f4<\/strong>\u304c\u4e2d\u5fc3\u3067\u3042\u308a\u3001\u533b\u7642\u30c1\u30fc\u30e0\u3068\u652f\u63f4\u8005\u306e\u9023\u643a\u306b\u3088\u308b\u5305\u62ec\u7684\u30b1\u30a2\u304c\u671b\u307e\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>Distal monosomy 15q \/ Chromosome 15q26-qter Deletion Syndrome<\/strong> \u2014 \u75c7\u72b6\u30fb\u7279\u5fb4\u30fb\u7a00\u5c11\u75be\u60a3\u60c5\u5831\uff08Malacards\uff09\u3002(<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q26_qter_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li><strong>Chromosome 15q26-qter deletion syndrome<\/strong> \u2014 \u81e8\u5e8a\u4f8b\u3068\u6b20\u5931\u907a\u4f1d\u5b50\u306e\u5f71\u97ff\uff08MDPI\u30ec\u30dd\u30fc\u30c8\uff09\u3002(<a href=\"https:\/\/www.mdpi.com\/2673-396X\/3\/1\/8?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li><strong>15q26 deletions FTNW<\/strong> \u2014 RareChromosome Disorder Support Group \u306b\u3088\u308b\u75be\u60a3\u8aac\u660e\u3002(<a href=\"https:\/\/rarechromo.org\/media\/information\/Chromosome%2015\/15q26%20deletions%20FTNW.pdf?utm_source=chatgpt.com\">Unique<\/a>)<\/li>\n\n\n\n<li><strong>Chromosome 15 distal deletion<\/strong> \u2014 Orphanet \u306e\u75be\u60a3\u6982\u8981\u3002(<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/1596?utm_source=chatgpt.com\">orpha.net<\/a>)<\/li>\n\n\n\n<li><strong>15q distal deletion \u539f\u8457\u4f8b<\/strong> \u2014 PubMed \u30ec\u30dd\u30fc\u30c8\uff08\u6b20\u5931\u60a3\u8005\u306e\u81e8\u5e8a\u50cf\uff09\u3002(<a href=\"https:\/\/bibgraph.hpcr.jp\/abst\/pubmed\/1849352?click_by=p_ref&amp;utm_source=chatgpt.com\">bibgraph.hpcr.jp<\/a>)<\/li>\n<\/ol>\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-16662","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\/16662","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":3,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16662\/revisions"}],"predecessor-version":[{"id":16846,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16662\/revisions\/16846"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16662"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}