{"id":16627,"date":"2026-01-19T06:56:58","date_gmt":"2026-01-19T06:56:58","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16627"},"modified":"2026-01-20T02:50:30","modified_gmt":"2026-01-20T02:50:30","slug":"14q32-duplication-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/14q32-duplication-syndrome\/","title":{"rendered":"14q32 duplication 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>dup(14)q(32)<\/strong>\uff0814\u756a\u67d3\u8272\u4f53\u9577\u8155 q32 \u306e\u91cd\u8907\uff09 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/17890\/14q32-duplication-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li><strong>Trisomy 14q32<\/strong>\uff0814q32 \u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\uff09 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/17890\/14q32-duplication-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li><strong>Predisposition to adult-onset myeloproliferative neoplasm due to 14q32 duplication<\/strong>\uff0814q32 \u91cd\u8907\u306b\u3088\u308b\u6210\u4eba\u767a\u75c7\u578b\u9aa8\u9ac4\u5897\u6b96\u6027\u816b\u760d\u7d20\u56e0\uff09 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/896239?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u300114\u756a\u67d3\u8272\u4f53\u9577\u8155 q32 \u306b\u3042\u308b\u907a\u4f1d\u7269\u8cea\u304c\u4e00\u90e8<strong>\u591a\u304f\u91cd\u8907<\/strong>\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4\u3067\u3001\u907a\u4f1d\u5b50\u30b3\u30d4\u30fc\u6570\u306e\u5897\u52a0\u304c\u767a\u80b2\u3084\u5065\u5eb7\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3082\u306e\u3068\u3057\u3066\u8a8d\u8b58\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/896239?utm_source=chatgpt.com\">NCBI<\/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>\u7b2c14\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff09\u306e q32 \u9818\u57df\u306e\u4e00\u90e8\u304c\u91cd\u8907\uff08duplication\uff09\u3059\u308b\u3053\u3068\u304c\u672c\u75be\u60a3\u306e\u6839\u672c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e00\u90e8\u5831\u544a\u3067\u306f\u3001<strong>terminal duplication\uff0814q32.11\u2013q32.33\u306e\u672b\u7aef\u91cd\u8907\uff09<\/strong> \u3068\u3057\u3066\u89b3\u5bdf\u3055\u308c\u308b\u75c7\u4f8b\u3082\u5b58\u5728\u3057\u3001\u3053\u308c\u306f q32 \u9818\u57df\u306e\u672b\u7aef\u307e\u3067\u542b\u3080\u6bd4\u8f03\u7684\u5927\u304d\u306a\u91cd\u8907\u3067\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/34573370\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n\n\n\n<li>\u91cd\u8907\u9818\u57df\u306b\u306f\u591a\u6570\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3001\u91cd\u8907\u304c\u8d77\u3053\u308b\u4f4d\u7f6e\u3084\u9577\u3055\u306e\u9055\u3044\u306b\u3088\u3063\u3066\u3001\u81e8\u5e8a\u50cf\u3084\u91cd\u75c7\u5ea6\u304c\u500b\u4f53\u5dee\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/9\/1388?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li>\u3053\u306e\u9818\u57df\u91cd\u8907\u306f\u90e8\u5206\u30c8\u30ea\u30bd\u30df\u30fc\u7684\u72b6\u614b\u3092\u4f5c\u308a\u3001\u907a\u4f1d\u5b50\u306e\u904e\u5270\u767a\u73fe\u304c\u6b63\u5e38\u306a\u767a\u80b2\u6a5f\u69cb\u3092\u4e71\u3059\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?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>14q32 duplication syndrome \u306f <strong>\u975e\u5e38\u306b\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75be\u60a3<\/strong>\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u306f\u3001<strong>\u4eba\u53e3100\u4e07\u4eba\u3042\u305f\u308a\u3067\u975e\u5e38\u306b\u7a00 (&lt;1\/1,000,000)<\/strong> \u306e\u767a\u751f\u983b\u5ea6\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.malacards.org\/card\/14q32_duplication_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li>\u533b\u7642\u6587\u732e\u3067\u306f\u3001<em>terminal<\/em> 14q32 \u90e8\u5206\u91cd\u8907\u3068\u3057\u3066\u516c\u8868\u3055\u308c\u305f\u75c7\u4f8b\u304c\u975e\u5e38\u306b\u5c11\u6570\u3067\u3042\u308b\u3053\u3068\u304b\u3089\u3001\u305d\u306e\u767a\u751f\u983b\u5ea6\u306e\u6b63\u78ba\u306a\u7d71\u8a08\u306f\u516c\u958b\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u4e16\u754c\u7684\u306b\u3082<strong>\u6570\u5341\u4ef6\u301c\u6570\u767e\u4ef6\u30ec\u30d9\u30eb\u306e\u5831\u544a\u306b\u3068\u3069\u307e\u308b<\/strong>\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/9\/1388?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li>\u591a\u304f\u306e\u75c7\u4f8b\u304c <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3068\u3057\u3066\u751f\u3058\u3001\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3068\u3044\u3046\u3088\u308a\u306f\u67d3\u8272\u4f53\u5f62\u6210\u6642\u306e\u5076\u767a\u7684\u306a\u69cb\u9020\u7570\u5e38\u306b\u8d77\u56e0\u3057\u3066\u3044\u308b\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/34573370\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n<\/ul>\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>14q32 duplication syndrome \u306f\u9577\u8155 q32 \u306e\u4e00\u90e8\u91cd\u8907\u306b\u3068\u3082\u306a\u3046\u8907\u5408\u7684\u306a\u75c7\u72b6\u7fa4\u3092\u5448\u3057\u307e\u3059\u3002\u91cd\u8907\u306e\u5927\u304d\u3055\u3084\u91cd\u8907\u65ad\u7247\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u7a2e\u985e\u306b\u3088\u308a\u3001\u767a\u73fe\u3059\u308b\u75c7\u72b6\u3084\u305d\u306e\u7a0b\u5ea6\u306b\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u8907\u6570\u306e\u75c7\u4f8b\u5831\u544a\u3068\u5305\u62ec\u7684\u30ec\u30d3\u30e5\u30fc\u304b\u3089\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a<strong>\u4e3b\u8981\u306a\u81e8\u5e8a\u7684\u7279\u5fb4<\/strong>\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<p><strong>1. \u767a\u80b2\u9045\u5ef6\u30fb\u77e5\u7684\u969c\u5bb3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u9045\u5ef6\uff08<strong>developmental delay \/ DD<\/strong>\uff09\u3084\u77e5\u7684\u969c\u5bb3\uff08<strong>intellectual disability \/ ID<\/strong>\uff09\u304c\u75c7\u4f8b\u306e\u591a\u304f\u3067\u89b3\u5bdf\u3055\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306f\u672c\u75c7\u5019\u7fa4\u306e\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/9\/1388?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li>\u767a\u9054\u9045\u5ef6\u306f\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08hypotonia\uff09\u3084\u904b\u52d5\u5354\u8abf\u6027\u306e\u9045\u308c\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u304f\u3001\u5e7c\u5c11\u671f\u304b\u3089\u8a00\u8a9e\u767a\u9054\u3084\u7c97\u5927\u904b\u52d5\u30fb\u5de7\u7dfb\u904b\u52d5\u306e\u7372\u5f97\u304c\u9045\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/9\/1388?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u4f4e\u51fa\u751f\u4f53\u91cd\u30fb\u6210\u9577\u9045\u5ef6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u306e\u591a\u304f\u306b\u306f <strong>\u4f4e\u51fa\u751f\u4f53\u91cd<\/strong>\uff08low birth weight\uff09\u3084\u3001\u5e7c\u5150\u671f\u30fb\u5150\u7ae5\u671f\u306e <strong>\u6210\u9577\u9045\u5ef6\uff08growth retardation\uff09<\/strong> \u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/9\/1388?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u67d3\u8272\u4f53\u91cd\u8907\u304c\u7d30\u80de\u5897\u6b96\u3084\u767a\u80b2\u306b\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u767a\u73fe\u306e\u30d0\u30e9\u30f3\u30b9\u3092\u5909\u3048\u308b\u7d50\u679c\u3067\u3042\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/duplications-of-distal-14q\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u9854\u8c8c\u7570\u5e38\uff08Dysmorphic features\uff09<\/strong><\/p>\n\n\n\n<p>14q32 duplication \u306e\u75c7\u4f8b\u3067\u306f\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u7570\u5e38\u304c\u8907\u6570\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u773c\u77bc\u4e0b\u304c\u308a\uff08downslanting palpebral fissures\uff09<\/li>\n\n\n\n<li>\u773c\u9593\u8ddd\u96e2\u62e1\u5927\uff08hypertelorism, wide-spaced eyes\uff09<\/li>\n\n\n\n<li>\u5e83\u3044\/\u6241\u5e73\u306a\u9f3b\u6881\uff08broad\/flat nasal bridge\uff09<\/li>\n\n\n\n<li>\u5c0f\u984e \/ \u984e\u767a\u80b2\u4e0d\u5168\uff08micrognathia\uff09<\/li>\n\n\n\n<li>\u4f4e\u4f4d\u8033\uff08low-set ears\uff09<\/li>\n\n\n\n<li>\u307e\u3064\u6bdb\u30fb\u7709\u6bdb\u306e\u307e\u3070\u3089\u3055\uff08sparse eyelashes\/eyebrows\uff09<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u75c7\u4f8b\u96c6\u7a4d\u306e\u5206\u6790\u3067\u308295%\u4ee5\u4e0a\u306e\u60a3\u8005\u3067\u898b\u3089\u308c\u308b\u7279\u5fb4\u306e\u4e00\u90e8\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/9\/1388?utm_source=chatgpt.com\">MDPI<\/a>)<\/p>\n\n\n\n<p><strong>4. \u795e\u7d4c\u767a\u9054\u30fb\u904b\u52d5\u6a5f\u80fd\u969c\u5bb3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08hypotonia\uff09\u3060\u3051\u3067\u306a\u304f\u3001<strong>\u904b\u52d5\u5354\u8abf\u969c\u5bb3<\/strong>\u3084\u884c\u52d5\u9762\u3067\u306e\u8ab2\u984c\uff08\u4f8b\uff1a\u6ce8\u610f\u6b20\u5982\u3084\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u7684\u884c\u52d5\uff09\u304c\u5831\u544a\u4f8b\u3067\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/9\/1388?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li>\u4e00\u90e8\u75c7\u4f8b\u3067\u306f <strong>\u3066\u3093\u304b\u3093<\/strong> \u306e\u5408\u4f75\u3084 <strong>\u8133\u8840\u7ba1\u969c\u5bb3\uff08\u4f8b: cerebral infarction\uff09<\/strong> \u306e\u5831\u544a\u3082\u3042\u308a\u3001\u91cd\u8907\u9818\u57df\u306e\u5f71\u97ff\u304c\u795e\u7d4c\u7cfb\u5168\u4f53\u306b\u53ca\u3076\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.researchgate.net\/figure\/Summary-of-clinical-features-of-published-cases-of-distal-14q-trisomic-segment-derived_tbl1_305926168?utm_source=chatgpt.com\">ResearchGate<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u5185\u81d3\u5947\u5f62\u30fb\u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<p>\u591a\u304f\u306e\u5831\u544a\u3067\u306f\u81d3\u5668\u5947\u5f62\u30fb\u5408\u4f75\u75c7\u3082\u7d44\u307f\u5408\u308f\u3055\u3063\u3066\u304a\u308a\u3001\u4ee5\u4e0b\u304c\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08congenital heart defects\uff09 \u2013 \u7a0b\u5ea6\u306f\u3055\u307e\u3056\u307e\u3067\u3059\u304c\u69cb\u9020\u7684\u5fc3\u7570\u5e38\u3068\u3057\u3066\u89b3\u5bdf\u4f8b\u3042\u308a (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/9\/1388?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li>\u9aa8\u683c\u7570\u5e38\u30fb\u95a2\u7bc0\u5f62\u614b\u7570\u5e38 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/9\/1388?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li>\u514d\u75ab\u7cfb\u3084\u8840\u6db2\u7cfb\u306e\u7570\u5e38\u3068\u3057\u3066\u3001<strong>\u9aa8\u9ac4\u5897\u6b96\u6027\u816b\u760d\uff08myeloproliferative neoplasms\uff09<\/strong> \u306e\u7d20\u56e0\u3084\u6210\u4eba\u671f\u306e\u8840\u6db2\u75be\u60a3\u306e\u30ea\u30b9\u30af\u5897\u52a0\u304c\u95a2\u9023\u75be\u60a3\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/896239?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306a\u591a\u5f69\u306a\u75c7\u72b6\u306f\u3001\u91cd\u8907\u65ad\u7247\u306b\u542b\u307e\u308c\u308b\u8907\u6570\u306e\u907a\u4f1d\u5b50\u306e<strong>\u904e\u5270\u767a\u73fe\uff08gene dosage effect\uff09<\/strong> \u304c\u3001\u767a\u80b2\u30fb\u4ee3\u8b1d\u30fb\u5668\u5b98\u5f62\u6210\u306a\u3069\u591a\u9818\u57df\u3067\u5f71\u97ff\u3059\u308b\u305f\u3081\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>14q32 duplication syndrome \u306e\u539f\u56e0\u306f\u300114\u756a\u67d3\u8272\u4f53\u9577\u8155 q32 \u9818\u57df\u306e\u4e00\u90e8\u304c\u91cd\u8907\u3059\u308b\u3053\u3068\u3067\u3059\u3002<\/strong><strong><br><\/strong>\u3053\u306e\u91cd\u8907\u306f\u901a\u5e38\u3001<strong>\u7247\u65b9\u306e\u67d3\u8272\u4f53 14 \u306e q32 \u9818\u57df\u3092 3 \u30b3\u30d4\u30fc\uff08\u901a\u5e38\u306f 2 \u30b3\u30d4\u30fc\uff09\u3078\u5897\u3084\u3059\u5f62\u3067\u751f\u3058\u3001\u7d50\u679c\u3068\u3057\u3066\u907a\u4f1d\u5b50\u306e\u904e\u5270\u767a\u73fe\u304c\u751f\u3058\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u91cd\u8907\u306f\u591a\u304f\u304c <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3067\u3042\u308a\u3001\u901a\u5e38\u306f\u4e21\u89aa\u304b\u3089\u76f4\u63a5\u53d7\u3051\u7d99\u304c\u308c\u308b\u306e\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u5f8c\u306e\u7d30\u80de\u5206\u88c2\u6642\u306e\u4e0d\u5747\u8861\u306b\u8d77\u56e0\u3059\u308b\u3068\u898b\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/34573370\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n\n\n\n<li>\u3053\u306e\u91cd\u8907\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306b\u306f\u767a\u9054\u30fb\u6210\u9577\u30fb\u795e\u7d4c\u6a5f\u80fd\u30fb\u8840\u6db2\u5f62\u6210\u306b\u95a2\u9023\u3059\u308b\u3082\u306e\u304c\u3042\u308a\u3001<strong>\u907a\u4f1d\u5b50\u904e\u5270\u767a\u73fe\u304c\u500b\u3005\u306e\u81d3\u5668\u3084\u30b7\u30b9\u30c6\u30e0\u3067\u306e\u6a5f\u80fd\u7570\u5e38\u3092\u5f15\u304d\u8d77\u3053\u3059<\/strong>\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.mdpi.com\/2073-4425\/12\/9\/1388?utm_source=chatgpt.com\">MDPI<\/a>)<\/li>\n\n\n\n<li>\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\uff08\u4f8b\uff1aBCL11B\u3001CCNK\u3001YY1\u3001DYNC1H1\u3001PACS2 \u306a\u3069\uff09\u304c\u5019\u88dc\u3068\u3057\u3066\u8b70\u8ad6\u3055\u308c\u3001\u3053\u308c\u3089\u306f\u795e\u7d4c\u767a\u9054\u3084\u514d\u75ab\u7cfb\u30fb\u7d30\u80de\u5468\u671f\u5236\u5fa1\u306a\u3069\u3055\u307e\u3056\u307e\u306a\u751f\u7269\u5b66\u7684\u904e\u7a0b\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.researchgate.net\/figure\/Fifteen-candidate-genes-associated-with-developmental-delay-located-between-14q32-and_tbl1_354430568?utm_source=chatgpt.com\">ResearchGate<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u91cd\u8907\u306e\u5927\u304d\u3055\u3084\u542b\u6709\u907a\u4f1d\u5b50\u306e\u9055\u3044\u306b\u3088\u308a\u3001\u75c7\u72b6\u30d1\u30bf\u30fc\u30f3\u3084\u91cd\u75c7\u5ea6\u306f\u500b\u3005\u306e\u60a3\u8005\u3067\u5927\u304d\u304f\u7570\u306a\u308b\u5834\u5408\u304c\u3042\u308a\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><strong>14q32 duplication syndrome \u306b\u5bfe\u3059\u308b\u201c\u67d3\u8272\u4f53\u7570\u5e38\u81ea\u4f53\u3092\u5143\u306b\u623b\u3059\u6839\u672c\u6cbb\u7642\u201d\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002<\/strong> \u6cbb\u7642\u306f\u4e3b\u306b\u75c7\u72b6\u3054\u3068\u306e\u7ba1\u7406\u3068\u652f\u6301\u7642\u6cd5\uff08symptomatic &amp; supportive care\uff09\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u81e8\u5e8a\u7ba1\u7406\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u591a\u8077\u7a2e\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u57fa\u672c\u3067\u3059\uff1a<\/p>\n\n\n\n<p><strong>\u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u65e9\u671f\u306e\u767a\u9054\u8a55\u4fa1\u3068 <strong>\u500b\u5225\u7642\u80b2\u30d7\u30ed\u30b0\u30e9\u30e0<\/strong> \u306e\u7b56\u5b9a<\/li>\n\n\n\n<li><strong>\u7406\u5b66\u7642\u6cd5<\/strong>\uff08\u904b\u52d5\u767a\u9054\u3001\u7b4b\u7dca\u5f35\u30d5\u30a9\u30ed\u30fc\uff09<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5<\/strong>\uff08\u611f\u899a\u7d71\u5408\u3001\u65e5\u5e38\u751f\u6d3b\u8a13\u7df4\uff09<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5<\/strong>\uff08\u8a00\u8a9e\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\uff09<\/li>\n<\/ul>\n\n\n\n<p><strong>\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<\/strong>\uff08\u60c5\u7dd2\u30fb\u793e\u4f1a\u30b9\u30ad\u30eb\u652f\u63f4\uff09<\/li>\n\n\n\n<li>\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u7684\u884c\u52d5\u3084\u6ce8\u610f\u9762\u306e\u5bfe\u5fdc<\/li>\n\n\n\n<li>\u5fc5\u8981\u6642\u306b <strong>\u7cbe\u795e\u79d1\uff0f\u5fc3\u7406\u58eb\u3068\u306e\u9023\u643a<\/strong><\/li>\n<\/ul>\n\n\n\n<p><strong>\u533b\u7642\u7684\u4ecb\u5165<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093<\/strong> \u3084 <strong>\u8133\u8840\u7ba1\u969c\u5bb3\u30ea\u30b9\u30af<\/strong> \u3078\u306e\u5bfe\u5fdc\uff08\u5fc5\u8981\u306b\u5fdc\u3058\u6297\u3066\u3093\u304b\u3093\u85ac\u3001\u795e\u7d4c\u79d1\u8a55\u4fa1\uff09<\/li>\n\n\n\n<li><strong>\u5148\u5929\u6027\u5fc3\u75be\u60a3<\/strong> \u3078\u306e\u5faa\u74b0\u5668\u8a55\u4fa1\u30fb\u6cbb\u7642<\/li>\n\n\n\n<li>\u6210\u9577\u30fb\u5185\u5206\u6ccc\u30fb\u6804\u990a\u7ba1\u7406<\/li>\n<\/ul>\n\n\n\n<p><strong>\u8840\u6db2\u75be\u60a3\u30fb\u304c\u3093\u30ea\u30b9\u30af\u7ba1\u7406<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u3067\u306f\u6210\u4eba\u767a\u75c7\u578b\u306e<strong>\u9aa8\u9ac4\u5897\u6b96\u6027\u816b\u760d\uff08\u4f8b\uff1a\u672c\u614b\u6027\u8840\u5c0f\u677f\u8840\u75c7\u3001\u6162\u6027\u9aa8\u9ac4\u5358\u7403\u6027\u767d\u8840\u75c5\u3001\u6025\u6027\u9aa8\u9ac4\u6027\u767d\u8840\u75c5\uff09\u7b49\u306e\u30ea\u30b9\u30af\u304c\u95a2\u9023\u4ed8\u3051\u3089\u308c\u3066\u3044\u308b<\/strong>\u3068\u3044\u3046\u5831\u544a\u304c\u3042\u308a\u3001\u8840\u6db2\u5b66\u7684\u30d5\u30a9\u30ed\u30fc\u304c\u91cd\u8981\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/896239?utm_source=chatgpt.com\">NCBI<\/a>)<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5b9a\u671f\u7684\u8840\u6db2\u691c\u67fb\u3001\u9aa8\u9ac4\u8a55\u4fa1<\/strong><\/li>\n\n\n\n<li>\u8840\u6db2\u75be\u60a3\u5c02\u9580\u533b\u3068\u306e\u9023\u643a<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5b9a\u671f\u30d5\u30a9\u30ed\u30fc\u3068\u7dcf\u5408\u30b1\u30a2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u30fb\u6210\u9577\u306e\u5b9a\u671f\u7684\u8a55\u4fa1<\/li>\n\n\n\n<li>\u591a\u79d1\uff08\u5c0f\u5150\u79d1\u3001\u795e\u7d4c\u79d1\u3001\u5fc3\u81d3\u5916\u79d1\u3001\u8840\u6db2\u5185\u79d1\u3001\u5185\u5206\u6ccc\u79d1\u306a\u3069\uff09\u306b\u3088\u308b\u7d99\u7d9a\u30d5\u30a9\u30ed\u30fc<\/li>\n\n\n\n<li>\u751f\u6d3b\u652f\u63f4\uff08\u5b66\u6821\u30fb\u5bb6\u5ead\u3067\u306e\u652f\u63f4\u8a08\u753b\uff09<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong>\uff1a\u6b20\u5931\u306e\u6027\u8cea\u30fb\u518d\u767a\u30ea\u30b9\u30af\u30fb\u598a\u5a20\u4e2d\u306e\u691c\u67fb\u9078\u629e\u80a2\u306b\u3064\u3044\u3066\u306e\u89e3\u8aac<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>14q32 duplication syndrome<\/strong> \u306f\u3001<strong>\u7b2c14\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155 q32 \u9818\u57df\u306e\u90e8\u5206\u7684\u306a\u91cd\u8907<\/strong>\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u6975\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u75c7\u72b6\u306f<strong>\u767a\u9054\u9045\u5ef6\u3001\u77e5\u7684\u969c\u5bb3\u3001\u4f4e\u51fa\u751f\u4f53\u91cd\u3001\u6210\u9577\u9045\u5ef6\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u9854\u8c8c\u7570\u5e38\u3001\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u795e\u7d4c\u30fb\u884c\u52d5\u554f\u984c\u3001\u3055\u3089\u306b\u306f\u6210\u4eba\u767a\u75c7\u578b\u306e\u8840\u6db2\u75be\u60a3\u30ea\u30b9\u30af<\/strong>\u306a\u3069\u5e45\u5e83\u304f\u3001\u91cd\u8907\u9818\u57df\u306e\u9577\u3055\u3068\u542b\u6709\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u591a\u69d8\u306a\u8868\u73fe\u578b\u3092\u793a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u539f\u56e0\u306f 14q32 \u9818\u57df\u306e<strong>\u91cd\u8907\u306b\u3088\u308b\u907a\u4f1d\u5b50\u904e\u5270\u767a\u73fe<\/strong>\u3067\u3042\u308a\u3001\u6cbb\u7642\u306f\u6839\u672c\u6cbb\u7642\u304c\u306a\u3044\u305f\u3081<strong>\u75c7\u72b6\u3054\u3068\u306e\u652f\u6301\u7642\u6cd5\u3001\u591a\u8077\u7a2e\u652f\u63f4\u3001\u5b9a\u671f\u30d5\u30a9\u30ed\u30fc<\/strong>\u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u9577\u671f\u7684\u306a\u30d5\u30a9\u30ed\u30fc\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u91cd\u8981\u3067\u3042\u308a\u3001\u30e9\u30a4\u30d5\u30b9\u30c6\u30fc\u30b8\u3054\u3068\u306b\u9069\u5207\u306a\u533b\u7642\u30fb\u6559\u80b2\u652f\u63f4\u3092\u7d44\u307f\u5408\u308f\u305b\u308b\u3053\u3068\u304c\u60a3\u8005\u306e\u751f\u6d3b\u306e\u8cea\u3092\u9ad8\u3081\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>MedGen \/ NCBI: 14q32 duplication syndrome<\/strong> \u2014 \u75be\u60a3\u5b9a\u7fa9\u3068\u95a2\u9023\u75be\u60a3\u3068\u306e\u6982\u5ff5\u6574\u7406\u3002 (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/medgen\/896239?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>NCBI PubMed (Han &amp; Park 2021)<\/strong> \u201cA Recurrent De Novo Terminal Duplication of 14q32\u201d \u2014 \u7aef\u90e8\u91cd\u8907\u306e\u75c7\u4f8b\u3068\u81e8\u5e8a\u50cf\u306e\u8a73\u7d30\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/34573370\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n\n\n\n<li><strong>GARD \/ NIH Rare Diseases Info<\/strong>: 14q32 duplication syndrome \u2014 \u75be\u60a3\u6982\u8981\u3001\u767a\u751f\u30e1\u30ab\u30cb\u30ba\u30e0\u3002 (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/17890\/14q32-duplication-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li><strong>Malacards: 14q32 duplication syndrome<\/strong> \u2014 \u75c7\u72b6\u30fb\u75be\u60a3\u6982\u8aac\u3002 (<a href=\"https:\/\/www.malacards.org\/card\/14q32_duplication_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li><strong>ResearchGate \/ clinical phenotype summary<\/strong> \u2014 \u767a\u9054\u30fb\u6210\u9577\u30fb\u9854\u8c8c\u7570\u5e38\u306a\u3069\u591a\u9818\u57df\u7279\u5fb4\u3002 (<a href=\"https:\/\/www.researchgate.net\/figure\/Fifteen-candidate-genes-associated-with-developmental-delay-located-between-14q32-and_tbl1_354430568?utm_source=chatgpt.com\">ResearchGate<\/a>)<\/li>\n<\/ol>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem 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