{"id":16634,"date":"2026-01-19T07:06:55","date_gmt":"2026-01-19T07:06:55","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16634"},"modified":"2026-01-20T06:12:34","modified_gmt":"2026-01-20T06:12:34","slug":"15q13-3-deletion-syndrome-bp4-to-bp5","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/15q13-3-deletion-syndrome-bp4-to-bp5\/","title":{"rendered":"15q13.3 deletion syndrome (BP4 to BP5)"},"content":{"rendered":"\n<p><strong>15q13.3 deletion syndrome (BP4 to BP5)<\/strong> \u306f\u3001\u30d2\u30c8\u7b2c15\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e\u7279\u5b9a\u9818\u57df <strong>BP4 \u3068 BP5 \u306e\u9593\u306e\u5fae\u5c0f\u6b20\u5931<\/strong> \u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b <strong>\u5148\u5929\u6027\u306e\u67d3\u8272\u4f53\u69cb\u9020\u7570\u5e38\u75c7\u5019\u7fa4<\/strong> \u3067\u3059\u3002\u795e\u7d4c\u767a\u9054\u3084\u884c\u52d5\u9762\u30fb\u8a8d\u77e5\u6a5f\u80fd\u306a\u3069\u306b\u95a2\u4e0e\u3059\u308b\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u3053\u306e\u9818\u57df\u306b\u5b58\u5728\u3059\u308b\u305f\u3081\u3001\u6b20\u5931\u306b\u3088\u308b\u5e45\u5e83\u3044\u81e8\u5e8a\u50cf\u3092\u5448\u3057\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\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>15q13.3 microdeletion syndrome BP4-BP5<\/strong><\/li>\n\n\n\n<li><strong>Chromosome 15q13.3 recurrent deletion syndromes<\/strong><\/li>\n\n\n\n<li><strong>15q13.3 recurrent deletion<\/strong><\/li>\n\n\n\n<li>OMIM \u767b\u9332\u540d\u306b\u3082\u985e\u4f3c\u3057\u305f\u79fb\u884c\u540d\u3042\u308a \u2014 OMIM:612001\uff0815q13.3 deletion syndrome\uff09<br>\u203b\u6b20\u5931\u306e\u4f4d\u7f6e\u3084\u7bc4\u56f2\u306b\u3088\u308a BP4\u2013BP5 \u5916\u3084 BP3\u2013BP5 \u306a\u3069\u306e\u4e9c\u578b\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u672c\u9805\u3067\u306f <strong>BP4\u2013BP5 \u306b\u5178\u578b\u7684\u306b\u751f\u3058\u308b\u6b20\u5931<\/strong> \u306b\u3064\u3044\u3066\u6271\u3044\u307e\u3059\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC4464824\/?utm_source=chatgpt.com\">PMC<\/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>\u672c\u75be\u60a3\u306f\u3001<strong>\u67d3\u8272\u4f5315\u306e\u9577\u8155\uff08q\uff09\u306e BP4 \u3068 BP5 \u3068\u547c\u3070\u308c\u308b\u53cd\u5fa9\u914d\u5217\u9818\u57df\u306e\u9593\uff0815q13.3\uff09<\/strong> \u304c <strong>\u6b20\u5931\uff08microdeletion\uff09<\/strong> \u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<br>\u3053\u306e\u6b20\u5931\u306f\u3001\u975e\u30a2\u30ec\u30eb\u540c\u6e90\u7d44\u63db\u3048\uff08NAHR: non-allelic homologous recombination\uff09\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u4e0d\u5747\u8861\u306a\u518d\u7de8\u6210\u306b\u3088\u3063\u3066\u751f\u3058\u3001\u6b20\u5931\u9818\u57df\u306f\u304a\u304a\u3080\u306d <strong>\u7d041.5\u301c2\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09<\/strong> \u3067\u3059\u3002(<a href=\"https:\/\/www.nature.com\/articles\/ejhg201488?utm_source=chatgpt.com\">Nature<\/a>)<\/p>\n\n\n\n<p>\u6b20\u5931\u9818\u57df\u306b\u306f\u795e\u7d4c\u7cfb\u30fb\u767a\u9054\u306b\u95a2\u9023\u3057\u305f\u907a\u4f1d\u5b50\u7fa4\u304c\u542b\u307e\u308c\u3066\u304a\u308a\uff08\u542b\u307e\u308c\u308b\u3068\u3055\u308c\u308b\u4e3b\u8981\u907a\u4f1d\u5b50\u4f8b: CHRNA7 \u7b49\uff09\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306e\u4e21\u30a2\u30ea\u30eb\u306e\u3046\u30611\u30b3\u30d4\u30fc\u304c\u5931\u308f\u308c\u308b <strong>\u30cf\u30d7\u30ed\u4e0d\u5168\uff08haploinsufficiency\uff09<\/strong> \u304c\u75c5\u614b\u5f62\u6210\u306b\u5f71\u97ff\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/minerva-clinic.or.jp\/chromosome-2\/chr15\/15q13-3\/?utm_source=chatgpt.com\">\u6771\u4eac\u30fb\u30df\u30cd\u30eb\u30d0\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>15q13.3 deletion \u306f\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044\u518d\u767a\u6027 Copy Number Variation\uff08CNV\uff09\u3068\u3057\u3066\u77e5\u3089\u308c\u3001\u3044\u304f\u3064\u304b\u306e\u96c6\u56e3\u7814\u7a76\u304c\u767a\u751f\u983b\u5ea6\u3092\u63a8\u5b9a\u3057\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e00\u822c\u96c6\u56e3\uff08\u51fa\u751f\u8005\u5168\u4f53\uff09\u3067\u306f <strong>\u7d04 1\/4,865 \u301c 1\/5,525<\/strong> \u3068\u63a8\u5b9a\u3055\u308c\u308b\u3068\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7121\u4f5c\u70ba\u306e\u65b0\u751f\u5150\u30b3\u30db\u30fc\u30c8\u3067\u306f <strong>\u7d04 1\/2,500<\/strong> \u3068\u3044\u3046\u5831\u544a\u3082\u3042\u308a\u3001\u6bd4\u8f03\u7684\u9ad8\u983b\u5ea6\u306a\u518d\u767a\u6027\u6b20\u5931\u3067\u3042\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u77e5\u7684\u969c\u5bb3\u3092\u6301\u3064\u96c6\u56e3\u306b\u6ce8\u76ee\u3059\u308b\u3068\u3001<strong>\u7d04 1\/347<\/strong> \u3068\u3044\u3046\u9ad8\u3044\u5272\u5408\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/199318?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u306a\u304a\u3001\u3053\u306e\u6b20\u5931\u306f <strong>\u6d78\u900f\u7387\uff08penetrance\uff09\u3084\u8868\u73fe\u578b\u306e\u5e45\u306b\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044<\/strong> \u3068\u3055\u308c\u3001\u6b20\u5931\u304c\u3042\u3063\u3066\u3082\u75c7\u72b6\u304c\u51fa\u306a\u3044\u4eba\uff08\u7121\u75c7\u72b6\u30ad\u30e3\u30ea\u30a2\uff09\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/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>15q13.3 deletion syndrome \u306f\u975e\u5e38\u306b <strong>\u8868\u73fe\u578b\u306e\u5e45\u304c\u5e83\u3044<\/strong> \u305f\u3081\u3001\u540c\u3058\u6b20\u5931\u3092\u6301\u3064\u4eba\u3067\u3082\u75c7\u72b6\u306e\u6709\u7121\u3084\u91cd\u75c7\u5ea6\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u4e3b\u306b\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<p><strong>\u25cf \u767a\u9054\u9045\u5ef6 \/ \u77e5\u7684\u969c\u5bb3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u60a3\u8005\u3067 <strong>\u77e5\u7684\u969c\u5bb3\uff08intellectual disability\uff09<\/strong> \u304c\u89b3\u5bdf\u3055\u308c\u3001\u4e00\u822c\u306b\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u767a\u9054\u9045\u5ef6\u3001\u3068\u304f\u306b <strong>\u8a00\u8a9e\u7372\u5f97\u306e\u9045\u308c\uff08speech delay\uff09<\/strong> \u3084\u8a8d\u77e5\u6a5f\u80fd\u306e\u4f4e\u4e0b\u304c\u65e5\u5e38\u7684\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u96c6\u56e3\u7814\u7a76\u3067\u306f\u3001\u5168\u4f53\u306e\u534a\u6570\u4ee5\u4e0a\uff08\u7d04 50\u301c60% \u524d\u5f8c\uff09\u3067\u767a\u9054\u9045\u5ef6\u307e\u305f\u306f\u77e5\u7684\u969c\u5bb3\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u25cf \u3066\u3093\u304b\u3093\u30fb\u75d9\u6523<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u3092\u6301\u3064\u4eba\u306e\u8907\u6570\u4f8b\u3067 <strong>\u3066\u3093\u304b\u3093<\/strong> \u304c\u5408\u4f75\u3057\u3001\u82e5\u5e74\u6027\u30df\u30aa\u30af\u30ed\u30cb\u30fc\u578b\u3001\u6b20\u795e\u767a\u4f5c\u3001\u5168\u822c\u6027\u767a\u4f5c\u306a\u3069\u69d8\u3005\u306a\u3066\u3093\u304b\u3093\u767a\u73fe\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3066\u3093\u304b\u3093\u306e\u767a\u75c7\u983b\u5ea6\u306f\u75c7\u4f8b\u306b\u3088\u308a\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u5831\u544a\u3067\u306f <strong>\u7d0425%\u524d\u5f8c<\/strong> \u306e\u60a3\u8005\u3067\u75d9\u6523\u304c\u898b\u3089\u308c\u308b\u3068\u3044\u3046\u30c7\u30fc\u30bf\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/square.umin.ac.jp\/CMA\/12_general.pdf?utm_source=chatgpt.com\">UMIN SQUARE<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u25cf \u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ASD\uff09\u30fb\u884c\u52d5\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ASD \u3084\u81ea\u9589\u75c7\u95a2\u9023\u306e\u884c\u52d5\uff08\u793e\u4f1a\u6027\u56f0\u96e3\u3001\u53cd\u5fa9\u884c\u52d5\u306a\u3069\uff09\u3092\u5448\u3059\u308b\u60a3\u8005\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u3068\u884c\u52d5\u9762\u306e\u95a2\u9023\u3092\u6307\u6458\u3059\u308b\u7814\u7a76\u3067\u306f\u3001<strong>\u6ce8\u610f\u6b20\u9665\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09<\/strong> \u3084\u60c5\u7dd2\u9762\u306e\u8ab2\u984c\u306a\u3069\u8907\u5408\u7684\u306a\u884c\u52d5\u554f\u984c\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.nature.com\/articles\/gim20169?utm_source=chatgpt.com\">Nature<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u25cf \u7cbe\u795e\u75be\u60a3 \/ \u795e\u7d4c\u7cbe\u795e\u75c7\u72b6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7d71\u5408\u5931\u8abf\u75c7\u3084\u6c17\u5206\u969c\u5bb3\u3001\u77e5\u899a\u7570\u5e38\u306a\u3069\u306e\u795e\u7d4c\u7cbe\u795e\u75be\u60a3\u304c\u5408\u4f75\u3059\u308b\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306f neurodevelopmental disorder \u306e\u30ea\u30b9\u30af\u56e0\u5b50\u3068\u3057\u3066\u5e45\u5e83\u3044\u5f71\u97ff\u3092\u6301\u3064\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/square.umin.ac.jp\/CMA\/12_general.pdf?utm_source=chatgpt.com\">UMIN SQUARE<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u25cf \u7b4b\u7dca\u5f35\u4f4e\u4e0b\u30fb\u904b\u52d5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08hypotonia\uff09<\/strong> \u306b\u3088\u308b\u521d\u671f\u306e\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\u3084\u5354\u8abf\u904b\u52d5\u306e\u56f0\u96e3\u306a\u3069\u304c\u898b\u3089\u308c\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>\u25cf \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u306e\u60a3\u8005\u306b <strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c<\/strong>\uff08\u4f8b\uff1a\u773c\u9593\u958b\u96e2\u3001\u773c\u77bc\u88c2\u7570\u5e38\u3001\u77ed\u3044\u4eba\u4e2d\u306a\u3069\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5fc5\u305a\u3057\u3082\u5168\u4f8b\u306b\u5171\u901a\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li>\u5c0f\u982d\u75c7\u3084\u5148\u5929\u6027\u5947\u5f62\uff08\u5fc3\u75be\u60a3\u3084\u6307\u8dbe\u7570\u5e38\u306a\u3069\uff09\u3092\u5448\u3059\u308b\u30b1\u30fc\u30b9\u3082\u307e\u308c\u306a\u304c\u3089\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/square.umin.ac.jp\/CMA\/12_general.pdf?utm_source=chatgpt.com\">UMIN SQUARE<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>15q13.3 deletion syndrome \u306e\u539f\u56e0\u306f\u3001<strong>15\u756a\u67d3\u8272\u4f53\u306e BP4\u2013BP5 \u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\uff08recurrent microdeletion\uff09<\/strong> \u306b\u3088\u308b\u3082\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306f\u3001\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\u914d\u5217\uff08segmental duplications\uff09\u304c\u5b58\u5728\u3057\u3001\u975e\u30a2\u30ec\u30eb\u540c\u6e90\u7d44\u63db\u3048\uff08NAHR\uff09\u306b\u3088\u3063\u3066\u6b20\u5931\u304c\u8d77\u3053\u308a\u3084\u3059\u3044<strong>\u8106\u5f31\u90e8\u4f4d\uff08hotspot\uff09<\/strong> \u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.nature.com\/articles\/ejhg201488?utm_source=chatgpt.com\">Nature<\/a>)<\/p>\n\n\n\n<p>\u6b20\u5931\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u91cd\u8981\u907a\u4f1d\u5b50\u306e\u4ee3\u8868\u3068\u3057\u3066\u306f\u3001<strong>CHRNA7\uff08\u03b17 \u30cb\u30b3\u30c1\u30f3\u6027\u30a2\u30bb\u30c1\u30eb\u30b3\u30ea\u30f3\u53d7\u5bb9\u4f53\u30b5\u30d6\u30e6\u30cb\u30c3\u30c8\uff09<\/strong> \u304c\u6319\u3052\u3089\u308c\u3066\u304a\u308a\u3001\u795e\u7d4c\u767a\u9054\u30fb\u30b7\u30ca\u30d7\u30b9\u6a5f\u80fd\u30fb\u767a\u4f5c\u95be\u5024\u306e\u5236\u5fa1\u306a\u3069\u306b\u95a2\u9023\u3059\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b20\u5931\u306b\u3088\u308b\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u3053\u308c\u3089\u306e\u6a5f\u80fd\u3092\u963b\u5bb3\u3057\u3046\u308b\u3053\u3068\u304c\u3001\u3066\u3093\u304b\u3093\u3084\u884c\u52d5\u7570\u5e38\u3001\u8a8d\u77e5\u969c\u5bb3\u3068\u95a2\u9023\u3059\u308b\u3068\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/minerva-clinic.or.jp\/chromosome-2\/chr15\/15q13-3\/?utm_source=chatgpt.com\">\u6771\u4eac\u30fb\u30df\u30cd\u30eb\u30d0\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u6b20\u5931\u304c\u3042\u3063\u3066\u3082\u75c7\u72b6\u306e\u306a\u3044\u4eba\u3082\u5b58\u5728\u3059\u308b\u3053\u3068\u304b\u3089\u3001<strong>\u6d78\u900f\u7387\u306e\u4e0d\u5b8c\u5168\u6027\uff08incomplete penetrance\uff09<\/strong> \u3084\u4fee\u98fe\u907a\u4f1d\u5b50\u30fb\u74b0\u5883\u56e0\u5b50\u306e\u5f71\u97ff\u304c\u81e8\u5e8a\u7684\u8868\u73fe\u578b\u306b\u5bc4\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<p>\u8a3a\u65ad\u306f\u30b2\u30ce\u30e0\u30ef\u30a4\u30c9\u306a <strong>\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u89e3\u6790\uff08array-CGH \/ CMA\uff09<\/strong> \u306b\u3088\u3063\u3066\u884c\u308f\u308c\u3001BP4\u2013BP5 \u6b20\u5931\u304c\u78ba\u8a8d\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5\uff08\u652f\u6301\u7642\u6cd5\u30fb\u7ba1\u7406\uff09<\/strong><\/h2>\n\n\n\n<p>15q13.3 deletion syndrome \u306e\u6839\u672c\u7684\u306a\u300c\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6cbb\u7642\u6cd5\u300d\u306f\u73fe\u5728\u3042\u308a\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u6cbb\u7642\u306f<strong>\u75c7\u72b6\u3068\u5408\u4f75\u75c7\u3078\u306e\u5bfe\u5fdc\u30fb\u652f\u6301\u7642\u6cd5<\/strong>\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<p><strong>\u5bfe\u75c7\u7642\u6cd5<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u306e\u7ba1\u7406<\/strong>\uff1a\u6297\u3066\u3093\u304b\u3093\u85ac\uff08ASM\uff09\u306e\u9069\u5207\u306a\u9078\u629e\u3068\u6295\u4e0e\u3002\u30d0\u30eb\u30d7\u30ed\u9178\u306a\u3069\u304c\u6709\u52b9\u4f8b\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u85ac\u5264\u9078\u629e\u306f\u60a3\u8005\u3054\u3068\u306b\u7570\u306a\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u79d1\/\u5fc3\u7406\u7684\u652f\u63f4<\/strong>\uff1a\u884c\u52d5\u6cbb\u7642\u30fb\u5fc3\u7406\u7642\u6cd5\u3001\u60c5\u7dd2\u9762\u306e\u30b5\u30dd\u30fc\u30c8\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u75be\u60a3\u306e\u6cbb\u7642<\/strong>\uff1a\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u6297\u7cbe\u795e\u75c5\u85ac\u30fb\u6297\u3046\u3064\u85ac\u306e\u691c\u8a0e\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u767a\u9054\u652f\u63f4\u30fb\u30ea\u30cf\u30d3\u30ea<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08Physical Therapy\uff09<\/strong>\uff1a\u904b\u52d5\u9045\u5ef6\u30fb\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3078\u306e\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\u306e\u652f\u63f4\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08Speech Therapy\uff09<\/strong>\uff1a\u8a00\u8a9e\u767a\u9054\u9045\u5ef6\u3078\u5bfe\u5fdc\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u7642\u80b2<\/strong>\uff1a\u65e9\u671f\u4ecb\u5165\u6559\u80b2\u3084\u7279\u6b8a\u6559\u80b2\u652f\u63f4\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u7d99\u7d9a\u7684\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u7684\u306a\u767a\u9054\u8a55\u4fa1<\/strong>\u3001\u8eab\u4f53\u691c\u67fb\u3001\u795e\u7d4c\u5b66\u7684\u8a55\u4fa1\u3002<\/li>\n\n\n\n<li><strong>\u8996\u899a\u30fb\u8074\u899a\u691c\u67fb<\/strong>\uff1a\u611f\u899a\u6a5f\u80fd\u306e\u8a55\u4fa1\u3068\u88dc\u52a9\u5177\u6d3b\u7528\u3002<\/li>\n\n\n\n<li><strong>\u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong>\uff08\u5fc3\u75be\u60a3\u7b49\u306e\u3042\u308b\u5834\u5408\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u591a\u8077\u7a2e\u5354\u50cd\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<p>\u793e\u4f1a\u798f\u7949\u30b5\u30fc\u30d3\u30b9\u3001\u5b66\u6821\u6559\u80b2\u652f\u63f4\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306a\u3069\u3001\u591a\u8077\u7a2e\u30fb\u591a\u9818\u57df\u3067\u306e\u652f\u63f4\u8a08\u753b\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>15q13.3 deletion syndrome (BP4 to BP5)<\/strong> \u306f\u300115\u756a\u67d3\u8272\u4f53\u4e0a\u306e <strong>BP4 \u3068 BP5 \u306e\u9593\u306e 15q13.3 \u6b20\u5931<\/strong> \u306b\u3088\u308b\u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u969c\u5bb3\u7cfb\u306e\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4\u3067\u3059\u3002\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u306b\u306f<strong>\u77e5\u7684\u969c\u5bb3\u3001\u767a\u9054\u9045\u5ef6\u3001\u8a00\u8a9e\u969c\u5bb3\u3001\u3066\u3093\u304b\u3093\u3001\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u95a2\u9023\u75c7\u72b6\u3001\u7cbe\u795e\u75be\u60a3<\/strong>\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u304c\u3001<strong>\u6b20\u5931\u3092\u6301\u3064\u5168\u3066\u306e\u4eba\u304c\u75c7\u72b6\u3092\u5448\u3059\u308b\u308f\u3051\u3067\u306f\u306a\u304f\u3001\u8868\u73fe\u578b\u306e\u5e45\u304c\u5e83\u3044<\/strong> \u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u6b20\u5931\u90e8\u4f4d\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u55aa\u5931\u304c\u767a\u75c7\u306b\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3001\u6cbb\u7642\u306f\u6839\u672c\u6cbb\u7642\u306f\u5b58\u5728\u3057\u306a\u3044\u305f\u3081\u3001\u75c7\u72b6\u3054\u3068\u306e\u652f\u6301\u7642\u6cd5\u3068\u5305\u62ec\u7684\u652f\u63f4\u304c\u91cd\u8981\u3067\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/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>GeneReviews \/ NCBI Bookshelf:<\/strong> 15q13.3 Recurrent Deletion \u2014 \u81e8\u5e8a\u50cf\u3001\u8a3a\u65ad\u3068\u7ba1\u7406\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK50780\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>Lowther C, et al. (2015):<\/strong> Delineating the 15q13.3 microdeletion phenotype \u2014 \u6b20\u5931\u7bc4\u56f2\u3068\u795e\u7d4c\u767a\u9054\u75c7\u72b6\u306e\u5305\u62ec\u7684\u30ec\u30d3\u30e5\u30fc\u3002(<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC4464824\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li><strong>Orphanet:<\/strong> 15q13.3 microdeletion syndrome \u2014 \u767a\u751f\u983b\u5ea6\u3068\u75c7\u5019\u7fa4\u6982\u8981\u3002(<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/199318?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n\n\n\n<li><strong>Minerva Clinic (Japan):<\/strong> 15q13.3\u6b20\u5931\u75c7\u5019\u7fa4 \u2014 \u75c7\u72b6\u3068\u95a2\u9023\u907a\u4f1d\u5b50\u3002(<a href=\"https:\/\/minerva-clinic.or.jp\/chromosome-2\/chr15\/15q13-3\/?utm_source=chatgpt.com\">\u6771\u4eac\u30fb\u30df\u30cd\u30eb\u30d0\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n\n\n\n<li><strong>Clinical and Genetic Heterogeneity of 15q13.3:<\/strong> 15q13.3 \u6b20\u5931\u3068\u591a\u5f69\u306a\u8868\u73fe\u578b\u3002(<a href=\"https:\/\/karger.com\/msy\/article\/6\/5\/222\/207201\/Clinical-and-Genetic-Heterogeneity-of-the-15q13-3?utm_source=chatgpt.com\">karger.com<\/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-16634","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\/16634","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\/16634\/revisions"}],"predecessor-version":[{"id":16848,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16634\/revisions\/16848"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16634"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}