{"id":16608,"date":"2026-01-19T06:20:10","date_gmt":"2026-01-19T06:20:10","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16608"},"modified":"2026-01-20T02:35:34","modified_gmt":"2026-01-20T02:35:34","slug":"14q11-q22-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/14q11-q22-deletion-syndrome\/","title":{"rendered":"14q11-q22 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<ul class=\"wp-block-list\">\n<li><strong>14q11\u2010q22 deletion syndrome<\/strong>\uff0814\u756a\u67d3\u8272\u4f53 \u9577\u8155 q11\u301cq22 \u6b20\u5931\u75c7\u5019\u7fa4\uff09<\/li>\n\n\n\n<li><strong>Chromosome 14q11\u2010q22 contiguous gene deletion syndrome<\/strong>\uff08\u9023\u7d9a\u907a\u4f1d\u5b50\u6b20\u5931\u306b\u3088\u308b14q11\u301cq22\u6b20\u5931\u75c7\u5019\u7fa4\uff09<\/li>\n\n\n\n<li><strong>14q11.2 microdeletion syndrome<\/strong>\uff08\u4e00\u90e8\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308b14q11.2\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff09 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q11-q22-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u540d\u79f0\u306f 14 \u756a\u67d3\u8272\u4f53\u9577\u8155\u306e q11 \u9818\u57df\u304b\u3089 q22 \u9818\u57df\u306b\u307e\u305f\u304c\u308b\u90e8\u5206\u7684\u306a\u6b20\u5931\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u75be\u60a3\u3068\u3057\u3066\u6587\u732e\u3084\u81e8\u5e8a\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u4f7f\u308f\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q11-q22-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/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>14\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff09\u306e q11 \u304b\u3089 q22 \u9818\u57df\u306b\u307e\u305f\u304c\u308b\u6b20\u5931\uff0814q11\u2212q22 deletion\uff09<\/strong> \u304c\u539f\u56e0\u3067\u3059\u3002\u3053\u306e\u6b20\u5931\u306f <strong>\u9023\u7d9a\u907a\u4f1d\u5b50\u6b20\u5931\uff08contiguous gene deletion\uff09<\/strong> \u3067\u3001\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u540c\u6642\u306b\u6b20\u5931\u3057\u3066\u767a\u75c7\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q11-q22-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u305f\u3081\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u6570\u3001\u6b20\u5931\u306e\u6b63\u78ba\u306a\u4f4d\u7f6e\u3084\u9577\u3055\u304c\u75c7\u72b6\u306e\u91cd\u3055\u3084\u81e8\u5e8a\u50cf\u306e\u591a\u69d8\u6027\u306b\u5f71\u97ff\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u591a\u304f\u306f <strong>\u65b0\u305f\u306b\u751f\u3058\u305f\uff08de novo\uff09\u6b20\u5931<\/strong> \u3067\u3059\u304c\u3001\u307e\u308c\u306b\u5bb6\u65cf\u5185\u3078\u907a\u4f1d\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q11-q22-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/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>14q11\u2212q22 deletion syndrome \u306f <strong>\u975e\u5e38\u306b\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75be\u60a3<\/strong> \u3067\u3059\u3002\u660e\u78ba\u306a\u4e00\u822c\u96c6\u56e3\u3067\u306e\u767a\u751f\u7387\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u75c7\u4f8b\u306f\u591a\u304f\u306a\u304f\u3001\u75c7\u4f8b\u5831\u544a\u3084\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u57fa\u3065\u3044\u305f\u9650\u3089\u308c\u305f\u60c5\u5831\u3057\u304b\u5b58\u5728\u3057\u307e\u305b\u3093\u3002\u7279\u5fb4\u7684\u306a\u6b20\u5931\u7bc4\u56f2\u3092\u6301\u3064\u75c7\u4f8b\u304c\u6587\u732e\u30ec\u30d9\u30eb\u3067\u6570\u5341\u4f8b\u7a0b\u5ea6\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u306b\u3068\u3069\u307e\u308b\u3068\u306e\u898b\u65b9\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q11-q22-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/p>\n\n\n\n<p>\u81e8\u5e8a\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u306f 14q11.2 \u5358\u72ec\u306e\u5fae\u5c0f\u6b20\u5931\u3068\u3057\u3066\u306e\u75c7\u4f8b\u304c\u5c11\u6570\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3082\u306e\u306e\u3001q11\u301cq22 \u306e\u6b20\u5931\u5168\u4f53\u3068\u3057\u3066\u306f\u3055\u3089\u306b\u307e\u308c\u3067\u3042\u308a\u3001<strong>100\u4e07\u4eba\u306b1\u4eba\u306b\u6e80\u305f\u306a\u3044\u983b\u5ea6\u306e\u5e0c\u5c11\u75be\u60a3<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q11-q22-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/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>14q11\u2212q22 deletion syndrome \u306e\u81e8\u5e8a\u50cf\u306f\u6b20\u5931\u7bc4\u56f2\u306b\u4f9d\u5b58\u3057\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u5831\u544a\u4f8b\u3084\u81e8\u5e8a\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u57fa\u3065\u304d\u4ee5\u4e0b\u306e\u3088\u3046\u306a <strong>\u4e3b\u8981\u75c7\u72b6\u30fb\u7279\u5fb4<\/strong> \u304c\u591a\u6570\u306e\u5834\u5408\u306b\u89b3\u5bdf\u3055\u308c\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u969c\u5bb3\u30fb\u77e5\u7684\u6a5f\u80fd\u9762<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u5ef6\uff08Developmental delay\uff09<\/strong>\uff1a\u904b\u52d5\u3001\u8a8d\u77e5\u3001\u8a00\u8a9e\u306e\u8907\u6570\u9818\u57df\u3067\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08Intellectual disability\uff09<\/strong>\uff1a\u8efd\u5ea6\u301c\u91cd\u5ea6\u307e\u3067\u5e45\u5e83\u304f\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u500b\u4f53\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09<\/strong>\uff1a\u4f4e\u7b4b\u7dca\u5f35\u304c\u4e73\u5150\u671f\u304b\u3089\u307f\u3089\u308c\u308b\u4f8b\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b69\u884c\u30fb\u8a00\u8a9e\u306e\u9045\u308c<\/strong>\uff1a\u6b69\u884c\u958b\u59cb\u3084\u8a00\u8a9e\u7372\u5f97\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002 (<a href=\"https:\/\/www.malacards.org\/card\/chromosome_14q11_q22_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u767a\u80b2\u30fb\u8eab\u4f53\u6210\u9577<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u4e0d\u826f\uff08Failure to thrive\uff09<\/strong>\uff1a\u51fa\u751f\u5f8c\u306e\u4f53\u91cd\u30fb\u8eab\u9577\u5897\u52a0\u304c\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u982d\u56f2\u5c0f\uff08Microcephaly\uff09<\/strong>\uff1a\u4f8b\u306b\u3088\u3063\u3066\u306f\u982d\u84cb\u767a\u9054\u306e\u9045\u308c\u3001\u5c0f\u982d\u75c7\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e83\u3044\u9f3b\u6881\u30fb\u7279\u5fb4\u7684\u9854\u8c8c\uff08facial dysmorphism\uff09<\/strong>\uff1a\u9854\u9762\u69cb\u9020\u306e\u7570\u5e38\uff08\u9f3b\u304c\u4f4e\u304f\u77ed\u3044\u3001\u9f3b\u3068\u4e0a\u5507\u9593\u9694\u304c\u9577\u3044\u306a\u3069\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u4f4d\u8033\u30fb\u77ed\u9f3b\u30fb\u9577\u3044\u4eba\u4e2d<\/strong> \u306a\u3069\u3001\u9854\u8c8c\u7570\u5e38\u306e\u6240\u898b\u304c\u8907\u6570\u898b\u3089\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/conditions\/C3150707\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u7cfb\u30fb\u8133\u69cb\u9020\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8133\u6881\uff08corpus callosum\uff09\u4f4e\u5f62\u6210<\/strong> \u3084 <strong>\u7570\u5e38\u9ac4\u9798\u5f62\u6210\uff08abnormal myelination\uff09<\/strong> \u304c\u89b3\u5bdf\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u75d9\u6523\uff08seizures\uff09<\/strong> \u3084 <strong>\u904b\u52d5\u5236\u5fa1\u306e\u7570\u5e38\uff08spasticity, hyperreflexia\uff09<\/strong> \u306a\u3069\u3001\u795e\u7d4c\u6a5f\u80fd\u9762\u306e\u8ab2\u984c\u304c\u8a8d\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6b69\u884c\u56f0\u96e3\u30fb\u9045\u5ef6<\/strong> \u3082\u4e00\u822c\u7684\u306a\u81e8\u5e8a\u50cf\u306e\u4e00\u90e8\u3067\u3059\u3002 (<a href=\"https:\/\/www.malacards.org\/card\/chromosome_14q11_q22_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u611f\u899a\u30fb\u4ee3\u8b1d\u30fb\u5185\u5206\u6ccc\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8996\u899a\u30fb\u8074\u899a\u306e\u7570\u5e38<\/strong>\uff1a\u8996\u6a5f\u80fd\u30fb\u8074\u529b\u306b\u95a2\u9023\u3059\u308b\u9055\u548c\u611f\u3084\u969c\u5bb3\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7532\u72b6\u817a\u523a\u6fc0\u30db\u30eb\u30e2\u30f3\u4e0a\u6607\uff08TSH\u9ad8\u5024\uff09<\/strong> \u3084\u5185\u5206\u6ccc\u7570\u5e38\u304c\u307f\u3089\u308c\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u7ba1\u75c7\u72b6\u30fb\u6442\u98df\u56f0\u96e3\uff08feeding difficulties\uff09<\/strong> \u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/conditions\/C3150707\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u56db\u80a2\u30fb\u9aa8\u683c\u30fb\u305d\u306e\u4ed6\u8eab\u4f53\u7684\u7570\u5e38<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u56db\u80a2\u306e\u5f62\u6210\u7570\u5e38\u3001\u95a2\u7bc0\u306e\u53ef\u52d5\u6027\u4f4e\u4e0b\u3084\u80a1\u95a2\u7bc0\u4e9c\u8131\u81fc\u306a\u3069\u304c\u307f\u3089\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5e83\u3044\u9854\u9762\u3001\u77ed\u9f3b\u3001\u72ed\u3044\u773c\u88c2\u3001\u9f3b\u5c16\u4f4e\u4f4d<\/strong> \u306a\u3069\u306e\u9854\u8c8c\u7570\u5e38\u3068\u3068\u3082\u306b\u3001\u9aa8\u683c\u95a2\u9023\u306e\u6240\u898b\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/conditions\/C3150707\/?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>14q11\u2212q22 deletion syndrome \u306e\u539f\u56e0\u306f\u300114\u756a\u67d3\u8272\u4f53\u9577\u8155 q11 \u304b\u3089 q22 \u9818\u57df\u306e\u4e00\u90e8\u304c\u6b20\u5931\uff08\u907a\u4f1d\u5b50\u306e\u30b3\u30d4\u30fc\u6570\u6e1b\u5c11\uff09\u3059\u308b\u3053\u3068\uff08chromosomal deletion\uff09\u3067\u3059\u3002<\/strong><strong><br><\/strong>\u3053\u306e\u6b20\u5931\u306f\u591a\u304f\u304c <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3068\u3057\u3066\u751f\u3058\u3001\u7d30\u80de\u5206\u88c2\u6642\u306e\u69cb\u9020\u7570\u5e38\u3084\u30b2\u30ce\u30e0\u914d\u5217\u306e\u518d\u7de8\u6210\u306b\u3088\u3063\u3066\u767a\u751f\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q11-q22-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/p>\n\n\n\n<p>\u6b20\u5931\u306b\u3088\u3063\u3066\u5f71\u97ff\u3092\u53d7\u3051\u308b\u9818\u57df\u306b\u306f\u3001<strong>\u767a\u9054\u30fb\u795e\u7d4c\u6a5f\u80fd\u30fb\u6210\u9577\u5236\u5fa1\u30fb\u4ee3\u8b1d\u30fb\u7d30\u80de\u63a5\u7740\u30fb\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054<\/strong> \u306b\u95a2\u308f\u308b\u8907\u6570\u306e\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3001\u3053\u308c\u3089\u306e <strong>\u30cf\u30d7\u30ed\u4e0d\u5168\uff08haploinsufficiency\uff09<\/strong> \u306b\u3088\u308a\u767a\u9054\u3084\u8eab\u4f53\u6a5f\u80fd\u306b\u91cd\u5927\u306a\u5f71\u97ff\u304c\u51fa\u308b\u3068\u63a8\u6e2c\u3055\u308c\u307e\u3059\u3002<br>\u6b20\u5931\u306e\u5f71\u97ff\u306f\u3001\u6b20\u5931\u306e<strong>\u5927\u304d\u3055\u30fb\u4f4d\u7f6e\u30fb\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u6570<\/strong>\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u591a\u69d8\u6027\u3084\u91cd\u75c7\u5ea6\u304c\u5909\u308f\u308b\u3053\u3068\u304c\u81e8\u5e8a\u7684\u306b\u8a8d\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q11-q22-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/p>\n\n\n\n<p>\u8a3a\u65ad\u306f\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u89e3\u6790\uff08CMA\uff09\u3001\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff08aCGH\uff09\u3001\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u691c\u67fb\u306a\u3069\u907a\u4f1d\u5b50\u30ec\u30d9\u30eb\u306e\u9ad8\u89e3\u50cf\u5ea6\u691c\u67fb\u3067\u884c\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5\uff08\u6cbb\u7642\u30fb\u7ba1\u7406\uff09<\/strong><\/h2>\n\n\n\n<p>14q11\u2212q22 deletion syndrome \u306b\u5bfe\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u307e\u305b\u3093\uff08\u6b20\u5931\u3057\u305f\u907a\u4f1d\u5b50\u3092\u5143\u306b\u623b\u3059\u6cbb\u7642\u306f\u4e0d\u53ef\uff09\u3002\u6cbb\u7642\u306f <strong>\u75c7\u72b6\u3054\u3068\u306e\u652f\u6301\u7642\u6cd5\u3068\u591a\u8077\u7a2e\u306b\u3088\u308b\u5305\u62ec\u7684\u30b1\u30a2<\/strong> \u304c\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>&nbsp;1. \u767a\u9054\u30fb\u904b\u52d5\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08Physical therapy\uff09<\/strong>\uff1a\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u904b\u52d5\u767a\u9054\u9045\u5ef6\u306b\u5bfe\u5fdc\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08Occupational therapy\uff09<\/strong>\uff1a\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u3084\u611f\u899a\u7d71\u5408\u306e\u652f\u63f4\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08Speech therapy\uff09<\/strong>\uff1a\u8a00\u8a9e\u9045\u5ef6\u3068\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u4e73\u5e7c\u5150\u671f\u304b\u3089\u65e9\u671f\u306b\u958b\u59cb\u3059\u308b\u3053\u3068\u3067\u3001\u767a\u9054\u6a5f\u80fd\u5411\u4e0a\u306b\u5bc4\u4e0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u795e\u7d4c\u30fb\u884c\u52d5\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u7642\u6cd5\u30fb\u5fc3\u7406\u652f\u63f4<\/strong>\uff1a\u60c5\u7dd2\u9762\u306e\u56f0\u96e3\u3084\u884c\u52d5\u4e0a\u306e\u8ab2\u984c\u3078\u306e\u5bfe\u5fdc\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\u7ba1\u7406<\/strong>\uff1a\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u795e\u7d4c\u79d1\u306b\u3088\u308b\u6297\u3066\u3093\u304b\u3093\u85ac\u8abf\u6574\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u79d1\u8a55\u4fa1<\/strong>\uff1a\u884c\u52d5\u30fb\u5b66\u7fd2\u9762\u3067\u306e\u652f\u63f4\u8a08\u753b\u7acb\u6848\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u533b\u7642\u7684\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8996\u899a\u30fb\u8074\u899a\u8a55\u4fa1<\/strong>\uff1a\u9069\u5207\u306a\u88dc\u52a9\u5177\u3084\u5c02\u9580\u6cbb\u7642\uff08\u773c\u79d1\u30fb\u8033\u9f3b\u79d1\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a\u30fb\u6210\u9577\u30d5\u30a9\u30ed\u30fc<\/strong>\uff1a\u6210\u9577\u66f2\u7dda\u306e\u8a55\u4fa1\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u6804\u990a\u652f\u63f4\u3002<\/li>\n\n\n\n<li><strong>\u5185\u5206\u6ccc\u8a55\u4fa1<\/strong>\uff1a\u7532\u72b6\u817a\u6a5f\u80fd\u306a\u3069\u30db\u30eb\u30e2\u30f3\u7ba1\u7406\u304c\u5fc5\u8981\u306a\u5834\u5408\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u76f8\u8ac7\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6559\u80b2\u652f\u63f4\u8a08\u753b\uff08IEP\uff09<\/strong>\uff1a\u5b66\u7fd2\u306e\u56f0\u96e3\u306b\u5bfe\u5fdc\u3059\u308b\u500b\u5225\u652f\u63f4\u3002<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u30b5\u30dd\u30fc\u30c8\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\uff1a\u539f\u56e0\u8aac\u660e\u3001\u518d\u767a\u30ea\u30b9\u30af\u306e\u8a55\u4fa1\u3001\u5bb6\u65cf\u8a08\u753b\u652f\u63f4\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>14q11\u2212q22 deletion syndrome<\/strong> \u306f\u300114\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155 q11 \u304b\u3089 q22 \u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u306b\u3088\u308a\u751f\u3058\u308b\u975e\u5e38\u306b\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75be\u60a3\u3067\u3059\u3002\u767a\u9054\u9045\u5ef6\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u77e5\u7684\u969c\u5bb3\u3001\u9854\u8c8c\u7570\u5e38\u3001\u8133\u69cb\u9020\u306e\u7570\u5e38\u3001\u904b\u52d5\u9045\u5ef6\u3001\u6442\u98df\u56f0\u96e3\u3001\u5185\u5206\u6ccc\u30fb\u611f\u899a\u6a5f\u80fd\u306e\u8ab2\u984c\u306a\u3069\u3001\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u75c7\u72b6\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u6b20\u5931\u7bc4\u56f2\u3084\u542b\u6709\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u81e8\u5e8a\u50cf\u306f\u5927\u304d\u304f\u5909\u52d5\u3057\u307e\u3059\u3002\u6cbb\u7642\u306f <strong>\u6839\u672c\u6cbb\u7642\u306f\u306a\u304f<\/strong>\u3001\u767a\u9054\u30fb\u795e\u7d4c\u30fb\u6559\u80b2\u30fb\u533b\u7642\u7684\u652f\u63f4\u3092\u7d44\u307f\u5408\u308f\u305b\u305f\u5305\u62ec\u7684\u306a\u63aa\u7f6e\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u65e9\u671f\u8a55\u4fa1\u30fb\u65e9\u671f\u4ecb\u5165\u304c\u60a3\u8005\u306e\u6a5f\u80fd\u7372\u5f97\u3068\u751f\u6d3b\u306e\u8cea\u5411\u4e0a\u306b\u5bc4\u4e0e\u3057\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q11-q22-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/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>Hiro Clinic: 14q11-q22 deletion syndrome overview (EN)<\/strong> \u2014 \u75c5\u56e0\u3068\u767a\u75c7\u306e\u6982\u8981\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/14q11-q22-deletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n\n\n\n<li><strong>NIH GARD \/ MedGen: Chromosome 14q11-q22 deletion features<\/strong> \u2014 \u81e8\u5e8a\u50cf\uff08\u795e\u7d4c\u30fb\u767a\u9054\u30fb\u5185\u5206\u6ccc\u30fb\u6210\u9577\u306a\u3069\uff09\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/conditions\/C3150707\/?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>Orphanet: 14q11.2 microdeletion syndrome<\/strong> \u2014 14q11.2\u306e\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u5b9a\u7fa9\u3002 (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/261120?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n\n\n\n<li><strong>Malacards: Chromosome 14q11-q22 deletion syndrome profile<\/strong> \u2014 \u75c7\u72b6\u30ea\u30b9\u30c8\u3002 (<a href=\"https:\/\/www.malacards.org\/card\/chromosome_14q11_q22_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/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-16608","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\/16608","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\/16608\/revisions"}],"predecessor-version":[{"id":16770,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16608\/revisions\/16770"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16608"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}