{"id":16599,"date":"2026-01-19T06:09:02","date_gmt":"2026-01-19T06:09:02","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16599"},"modified":"2026-01-20T02:34:21","modified_gmt":"2026-01-20T02:34:21","slug":"13q12-3-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/13q12-3-microdeletion-syndrome\/","title":{"rendered":"13q12.3 microdeletion 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>Del(13)(q12.3)<\/strong>\uff0813\u756a\u67d3\u8272\u4f53\u9577\u8155q12.3\u90e8\u4f4d\u306e\u6b20\u5931\uff09(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21737\/13q123-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li><strong>monosomy 13q12.3<\/strong>\uff0813q12.3\u5358\u4e00\u4f53\uff09(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21737\/13q123-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u4e00\u90e8\u306e\u5e83\u3044 <strong>13q deletion syndrome\uff0813q\u6b20\u5931\u75c7\u5019\u7fa4\uff09<\/strong> \u306e\u4e9c\u578b\u30fb\u75c7\u4f8b\u3068\u3057\u3066\u6271\u308f\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u300113q\u5168\u57df\u6b20\u5931\u3068\u306f\u7570\u306a\u308b\u5fae\u5c0f\u6b20\u5931\u5358\u72ec\u306e\u75be\u60a3\u3068\u3057\u3066\u8a8d\u8b58\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/en.wikipedia.org\/wiki\/13q_deletion_syndrome?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/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>\u30d2\u30c8\u7b2c13\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff09\u306e 12.3 \u9818\u57df\uff0813q12.3\uff09<\/strong> \u306b\u304a\u3051\u308b <strong>\u5fae\u5c0f\u6b20\u5931\uff08microdeletion\uff09<\/strong> \u304c\u539f\u56e0\u3067\u3059\u3002<br>\u3053\u306e\u6b20\u5931\u306f\u3001\u67d3\u8272\u4f53\u306e\u5c40\u6240\u7684\u306a\u30b3\u30d4\u30fc\u6570\u306e\u6e1b\u5c11\u3067\u3001\u8a72\u5f53\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u4e00\u90e8\u6b20\u3051\u3066\u3057\u307e\u3046\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21737\/13q123-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/p>\n\n\n\n<p>\u6b20\u5931\u3055\u308c\u308b\u907a\u4f1d\u5b50\u3068\u3057\u3066\u8ad6\u6587\u3084\u75c7\u4f8b\u5831\u544a\u306b\u6319\u3052\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308b\u3082\u306e\u306b\u306f\u3001<strong>HMGB1<\/strong>\uff08high mobility group box 1\uff09\u3001<strong>KATNAL1<\/strong>\uff08katanin catalytic subunit A1\uff09\u3001\u304a\u3088\u3073\u975e\u30b3\u30fc\u30c9RNA\u907a\u4f1d\u5b50 <strong>LINC00426<\/strong> \u306a\u3069\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\uff081\u30b3\u30d4\u30fc\u306e\u6b20\u5931\uff09\u304c\u75c7\u72b6\u5f62\u6210\u306b\u5bc4\u4e0e\u3057\u3066\u3044\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24664804\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>13q12.3 microdeletion syndrome \u306f <strong>\u975e\u5e38\u306b\u307e\u308c\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75be\u60a3<\/strong> \u3067\u3001\u75ab\u5b66\u30c7\u30fc\u30bf\u3068\u3057\u3066\u306e\u660e\u78ba\u306a\u51fa\u751f\u983b\u5ea6\u306f\u516c\u8868\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u4e16\u754c\u7684\u306b\u3082 <strong>\u6975\u3081\u3066\u4f4e\u983b\u5ea6\uff08&lt;1\/1,000,000\uff09<\/strong> \u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/13q123_microdeletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/p>\n\n\n\n<p>\u7c73\u56fd\u907a\u4f1d\u6027\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc\uff08GARD\uff09\u306b\u3088\u308b\u3068\u3001<strong>\u7c73\u56fd\u3067\u306f1000\u4eba\u672a\u6e80<\/strong>\u306e\u60a3\u8005\u304c\u5b58\u5728\u3059\u308b\u3068\u898b\u7a4d\u3082\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u308c\u3082\u78ba\u5b9a\u5024\u3067\u306f\u306a\u304f\u3001\u81e8\u5e8a\u7684\u306a\u672a\u8a3a\u65ad\u4f8b\u3084\u5831\u544a\u3055\u308c\u3066\u3044\u306a\u3044\u75c7\u4f8b\u304c\u542b\u307e\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21737\/13q123-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/p>\n\n\n\n<p>\u6b20\u5931\u305d\u306e\u3082\u306e\u306f\u307b\u3068\u3093\u3069 <strong>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09<\/strong> \u3068\u3057\u3066\u767a\u751f\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u89aa\u304b\u3089\u5b50\u3078\u907a\u4f1d\u3059\u308b\u4f8b\u306f\u307e\u308c\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21737\/13q123-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/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>13q12.3 microdeletion syndrome \u306f\u3001\u6b20\u5931\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u55aa\u5931\u306b\u3088\u3063\u3066 <strong>\u795e\u7d4c\u767a\u9054\u3001\u8eab\u4f53\u767a\u9054\u3001\u304a\u3088\u3073\u76ae\u819a\u30fb\u611f\u899a\u7cfb\u306a\u3069\u306b\u591a\u5f69\u306a\u75c7\u72b6<\/strong> \u3092\u5448\u3057\u307e\u3059\u3002\u75c7\u4f8b\u6570\u81ea\u4f53\u304c\u9650\u3089\u308c\u3066\u3044\u308b\u305f\u3081\u5168\u3066\u306e\u75c7\u72b6\u304c\u4e00\u5b9a\u3067\u3042\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u4e3b\u8981\u306a\u81e8\u5e8a\u7279\u5fb4\u306f\u6b21\u306e\u901a\u308a\u3067\u3059\uff1a<\/p>\n\n\n\n<p><strong>1. \u77e5\u7684\u6a5f\u80fd\u30fb\u767a\u9054\u9045\u5ef6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e2d\u7b49\u5ea6\u301c\u8efd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\uff08intellectual disability\uff09<\/strong> \u304c\u4e00\u822c\u7684\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u6b20\u5931\u9818\u57df\u306b\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u8133\u306e\u767a\u9054\u306b\u5f71\u97ff\u3059\u308b\u305f\u3081\u3067\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21737\/13q123-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li><strong>\u5168\u822c\u6027\u767a\u9054\u9045\u5ef6<\/strong>\uff08\u904b\u52d5\u30fb\u8a00\u8a9e\u30fb\u793e\u4f1a\u6027\u306e\u767a\u9054\u306e\u9045\u308c\uff09\u3082\u591a\u304f\u306e\u75c7\u4f8b\u3067\u89b3\u5bdf\u3055\u308c\u3066\u304a\u308a\u3001\u65e9\u671f\u4ecb\u5165\u3084\u7642\u80b2\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21737\/13q123-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8a00\u8a9e\u9045\u5ef6\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u56f0\u96e3<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u306f\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u306e\u3072\u3068\u3064\u3067\u3001\u8a71\u3057\u8a00\u8449\u3084\u767a\u97f3\u306e\u53d6\u5f97\u304c\u5e73\u5747\u3088\u308a\u9045\u304f\u306a\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21737\/13q123-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5c0f\u982d\u75c7\uff08Microcephaly\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u51fa\u751f\u5f8c\u306e\u5c0f\u982d\u75c7\uff08postnatal microcephaly\uff09<\/strong> \u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u8133\u306e\u6210\u9577\u9045\u5ef6\u304c\u982d\u56f2\u306b\u3082\u53cd\u6620\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21737\/13q123-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7279\u5fb4\u7684\u9854\u8c8c\uff08Facial dysmorphism\uff09<\/strong><\/p>\n\n\n\n<p>\u591a\u304f\u306e\u5831\u544a\u4f8b\u3067\u9854\u8c8c\u7570\u5e38\u304c\u6307\u6458\u3055\u308c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u982c\u90e8\u306e\u5e73\u5766\u5316\uff08malar flattening\uff09<\/li>\n\n\n\n<li>\u76ee\u7acb\u3063\u305f\u9f3b\uff08prominent nose\uff09<\/li>\n\n\n\n<li>\u767a\u80b2\u4e0d\u5168\u306e\u9f3b\u7ffc\uff08underdeveloped alae nasi\uff09<\/li>\n\n\n\n<li>\u5e73\u5766\u306a\u4e0a\u5507\u4eba\u4e2d\u90e8\uff08smooth philtrum\uff09<\/li>\n\n\n\n<li>\u8584\u3044\u4e0a\u5507\u7d05\u8272\u5e2f\uff08thin vermillion of the upper lip\uff09(<a href=\"https:\/\/www.malacards.org\/card\/13q123_microdeletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306f13q12.3\u5fae\u5c0f\u6b20\u5931\u306b\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u30d1\u30bf\u30fc\u30f3\u3068\u3057\u3066\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/13q123_microdeletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/p>\n\n\n\n<p><strong>5. \u76ae\u819a\u75c7\u72b6\u30fb\u30a2\u30c8\u30d4\u30fc\u50be\u5411<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6e7f\u75b9\uff08eczema\uff09\u3084\u30a2\u30c8\u30d4\u30fc\u6027\u76ae\u819a\u708e\uff08atopic dermatitis\uff09<\/strong> \u304c\u4e00\u90e8\u306e\u60a3\u8005\u3067\u8a8d\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21737\/13q123-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u75db\u899a\u306e\u4f4e\u4e0b<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75db\u307f\u306b\u5bfe\u3059\u308b\u611f\u53d7\u6027\u4f4e\u4e0b\uff08reduced sensitivity to pain\uff09<\/strong> \u306e\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u5916\u50b7\u6642\u306a\u3069\u306b\u3082\u75db\u307f\u306e\u8a8d\u8b58\u304c\u901a\u5e38\u3088\u308a\u4f4e\u3044\u50be\u5411\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/13q123_microdeletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>7. \u6442\u98df\u30fb\u6804\u990a\u95a2\u9023\u306e\u8ab2\u984c<\/strong><\/p>\n\n\n\n<p>Bartholdi\u3089\u306e\u75c7\u4f8b\u5831\u544a\u3067\u306f\u3001<strong>\u4e73\u5150\u671f\u306e\u6442\u98df\u56f0\u96e3\u3084\u96e2\u4e73\u306e\u96e3\u3057\u3055<\/strong> \u304c\u89b3\u5bdf\u3055\u308c\u3066\u304a\u308a\u3001\u521d\u671f\u6804\u990a\u7ba1\u7406\u304c\u5fc5\u8981\u306b\u306a\u308b\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24664804\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/p>\n\n\n\n<p><strong>8. \u884c\u52d5\u9762\u30fb\u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5834\u5408\u306b\u3088\u3063\u3066\u306f <strong>\u591a\u52d5\u6027\uff08hyperactivity\uff09<\/strong> \u3084 <strong>\u884c\u52d5\u9762\u306e\u8ab2\u984c<\/strong> \u3068\u3044\u308f\u308c\u308b\u75c7\u72b6\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u75c7\u4f8b\u306b\u3088\u3063\u3066\u306f\u8ffd\u52a0\u306e\u8a55\u4fa1\u30fb\u652f\u63f4\u304c\u5fc5\u8981\u3067\u3059\u3002(<a href=\"https:\/\/www.ueharazaidan.or.jp\/houkokushu\/Vol.38\/pdf\/report\/043_report.pdf?utm_source=chatgpt.com\">\u4e0a\u539f\u8a18\u5ff5\u751f\u547d\u79d1\u5b66\u8ca1\u56e3<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u6700\u8fd1\u306e\u75c7\u4f8b\u5831\u544a\u3067\u306f\u3001\u3066\u3093\u304b\u3093\u3084\u80a5\u6e80\u306a\u3069\u3092\u4f34\u3046\u4f8b\u304c\u8a18\u8f09\u3055\u308c\u3066\u3044\u308b\u3082\u306e\u3082\u3042\u308a\u3001\u5fae\u5c0f\u6b20\u5931\u9818\u57df\u3084\u907a\u4f1d\u7684\u80cc\u666f\u306e\u5dee\u306b\u3088\u3063\u3066\u591a\u69d8\u306a\u8868\u73fe\u578b\u3068\u306a\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/onlinelibrary.wiley.com\/doi\/abs\/10.1155\/crig\/1912620?utm_source=chatgpt.com\">Wiley Online Library<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>13q12.3 microdeletion syndrome \u306e\u539f\u56e0\u306f\u300113\u756a\u67d3\u8272\u4f53\u306e q12.3 \u9818\u57df\u306b\u751f\u3058\u308b\u5fae\u5c0f\u6b20\u5931\uff08chromosomal microdeletion\uff09\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u300113q12.3\u9818\u57df\u5185\u306b\u5b58\u5728\u3059\u308b\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c1\u30b3\u30d4\u30fc\u6b20\u5931\uff08haploinsufficiency\uff09\u3068\u306a\u308a\u3001\u305d\u306e\u907a\u4f1d\u5b50\u7523\u7269\u304c\u901a\u5e38\u91cf\u3067\u306f\u4e0d\u8db3\u3059\u308b\u3053\u3068\u306b\u3088\u308a\u6b63\u5e38\u306a\u767a\u9054\u3084\u6a5f\u80fd\u304c\u963b\u5bb3\u3055\u308c\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21737\/13q123-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li>\u6b20\u5931\u306f\u591a\u304f\u306e\u5834\u5408 <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3067\u3042\u308a\u3001\u5b50\u3069\u3082\u3067\u898b\u3089\u308c\u3066\u3082\u4e21\u89aa\u306b\u540c\u3058\u6b20\u5931\u304c\u306a\u3044\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21737\/13q123-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li>\u5f53\u8a72\u9818\u57df\u306b\u542b\u307e\u308c\u308b <strong>HMGB1<\/strong> \u306f\u7d30\u80de\u306e\u6838\u5185\u3067DNA\u7d50\u5408\u30bf\u30f3\u30d1\u30af\u8cea\u3068\u3057\u3066\u5e83\u304f\u6a5f\u80fd\u3057\u3001\u8133\u306e\u767a\u9054\u3084\u795e\u7d4c\u7d30\u80de\u6a5f\u80fd\u306b\u91cd\u8981\u3067\u3042\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u6b20\u5931\u306b\u3088\u3063\u3066\u3053\u308c\u3089\u306e\u6a5f\u80fd\u304c\u4f4e\u4e0b\u3059\u308b\u3068\u3001\u767a\u9054\u9045\u5ef6\u3084\u5c0f\u982d\u75c7\u306b\u5bc4\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.ueharazaidan.or.jp\/houkokushu\/Vol.38\/pdf\/report\/043_report.pdf?utm_source=chatgpt.com\">\u4e0a\u539f\u8a18\u5ff5\u751f\u547d\u79d1\u5b66\u8ca1\u56e3<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u67d3\u8272\u4f53\u6b20\u5931\u306f\u3001\u901a\u5e38\u306e\u67d3\u8272\u4f53\u5206\u6790\u3067\u306f\u691c\u51fa\u304c\u56f0\u96e3\u306a<strong>\u5fae\u5c0f\u6b20\u5931<\/strong>\u3067\u3042\u308b\u305f\u3081\u3001<strong>\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u89e3\u6790\uff08CMA\uff09<\/strong> \u3084 <strong>\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff08array CGH\uff09<\/strong> \u306a\u3069\u9ad8\u89e3\u50cf\u5ea6\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u306b\u3088\u308a\u78ba\u5b9a\u8a3a\u65ad\u304c\u884c\u308f\u308c\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21737\/13q123-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/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>13q12.3 microdeletion syndrome \u306b\u5bfe\u3057\u3066 <strong>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\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\uff08supportive care\uff09\u3068\u5305\u62ec\u7684\u652f\u63f4<\/strong> \u304c\u4e2d\u5fc3\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u652f\u63f4\u3068\u7642\u80b2<\/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\u767a\u9054\u306e\u9045\u308c\u3084\u7b4b\u7dca\u5f35\u306e\u8ab2\u984c\u306b\u5bfe\u3059\u308b\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08Occupational therapy\uff09<\/strong>\uff1a\u65e5\u5e38\u751f\u6d3b\u6280\u80fd\u3084\u611f\u899a\u7d71\u5408\u652f\u63f4<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08Speech therapy\uff09<\/strong>\uff1a\u8a00\u8a9e\u9045\u5ef6\u3084\u767a\u97f3\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u6a5f\u80fd\u306e\u652f\u63f4<br>\u3053\u308c\u3089\u306e\u7642\u80b2\u306f\u65e9\u671f\u304b\u3089\u7d99\u7d9a\u7684\u306b\u884c\u3046\u3053\u3068\u304c\u3001\u767a\u9054\u4fc3\u9032\u306b\u5bc4\u4e0e\u3059\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21737\/13q123-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6559\u80b2\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u500b\u5225\u5316\u6559\u80b2\u30d7\u30ed\u30b0\u30e9\u30e0\uff08IEP\uff09<\/strong>\uff1a\u5b66\u7fd2\u652f\u63f4\u304c\u5fc5\u8981\u306a\u5834\u5408\u3001\u6559\u80b2\u6a5f\u95a2\u3067\u306e\u500b\u5225\u652f\u63f4\u8a08\u753b<\/li>\n\n\n\n<li>\u7279\u5225\u652f\u63f4\u6559\u80b2\u3084\u5c02\u9580\u8b1b\u5e2b\u306b\u3088\u308b\u5b66\u7fd2\u30d5\u30a9\u30ed\u30fc\u306a\u3069<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u76ae\u819a\u75c7\u72b6\u30fb\u30a2\u30c8\u30d4\u30fc\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6e7f\u75b9\u3084\u30a2\u30c8\u30d4\u30fc\u6027\u76ae\u819a\u708e\u306b\u306f <strong>\u30b9\u30ad\u30f3\u30b1\u30a2\u3001\u4fdd\u6e7f\u3001\u6297\u708e\u75c7\u85ac\uff08\u30b9\u30c6\u30ed\u30a4\u30c9\u5916\u7528\u85ac\u306a\u3069\uff09<\/strong><\/li>\n\n\n\n<li>\u75c7\u72b6\u306e\u7a0b\u5ea6\u306b\u3088\u3063\u3066\u306f\u76ae\u819a\u79d1\u3067\u306e\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u63a8\u5968\u3055\u308c\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u611f\u899a\u30fb\u884c\u52d5\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75db\u899a\u4f4e\u4e0b<\/strong> \u306b\u5bfe\u3057\u3066\u306f\u3001\u5b89\u5168\u6027\u306e\u914d\u616e\u3084\u65e5\u5e38\u751f\u6d3b\u3067\u306e\u30b1\u30a2\u6307\u5c0e<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u9762\u306e\u8ab2\u984c<\/strong> \u304c\u3042\u308b\u5834\u5408\u306f\u5fc3\u7406\u30fb\u884c\u52d5\u7642\u6cd5\u3084\u5c02\u9580\u533b\u3068\u306e\u9023\u643a<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u6804\u990a\u30fb\u6210\u9577\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6442\u98df\u56f0\u96e3\u3084\u6210\u9577\u9045\u5ef6\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u306f\u5c0f\u5150\u6804\u990a\u5c02\u9580\u533b\u3068\u9023\u643a<\/li>\n\n\n\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u6804\u990a\u88dc\u52a9\u3084\u6442\u98df\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u5b9a\u671f\u7684\u306a\u533b\u7642\u30d5\u30a9\u30ed\u30fc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u72b6\u6cc1\u3001\u8996\u899a\u30fb\u8074\u899a\u30fb\u795e\u7d4c\u6a5f\u80fd\u306a\u3069\u306e\u5b9a\u671f\u8a55\u4fa1<\/li>\n\n\n\n<li>\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u5185\u79d1\u30fb\u5c0f\u5150\u79d1\u3092\u542b\u3080\u591a\u8077\u7a2e\u30d5\u30a9\u30ed\u30fc<\/li>\n<\/ul>\n\n\n\n<p><strong>7. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u306e\u539f\u56e0\u3001\u518d\u767a\u30ea\u30b9\u30af\u3001\u5bb6\u65cf\u8a08\u753b\u306e\u76f8\u8ac7<\/li>\n\n\n\n<li>\u4e21\u89aa\u30fb\u5bb6\u65cf\u306b\u5bfe\u3059\u308b\u60c5\u5831\u63d0\u4f9b\u3068\u652f\u63f4\u8a08\u753b\u306e\u5171\u6709<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>13q12.3 microdeletion syndrome<\/strong> \u306f\u300113\u756a\u67d3\u8272\u4f53\u306e <strong>q12.3 \u9818\u57df\u306b\u304a\u3051\u308b\u5fae\u5c0f\u6b20\u5931\uff08microdeletion\uff09<\/strong> \u306b\u3088\u308a\u767a\u75c7\u3059\u308b\u6975\u3081\u3066\u7a00\u306a\u5148\u5929\u6027\u75be\u60a3\u3067\u3059\u3002\u4e3b\u306a\u81e8\u5e8a\u7279\u5fb4\u3068\u3057\u3066 <strong>\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3001\u8a00\u8a9e\u9045\u5ef6\u3001\u5c0f\u982d\u75c7\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u3001\u6e7f\u75b9\/\u30a2\u30c8\u30d4\u30fc\u6027\u76ae\u819a\u708e\u3001\u75db\u899a\u4f4e\u4e0b\u3001\u6442\u98df\u30fb\u767a\u9054\u306e\u8ab2\u984c<\/strong> \u306a\u3069\u304c\u307f\u3089\u308c\u307e\u3059\u3002\u6b20\u5931\u9818\u57df\u5185\u306e\u91cd\u8981\u907a\u4f1d\u5b50\uff08\u4f8b\uff1a<strong>HMGB1, KATNAL1<\/strong>\uff09\u306e1\u30b3\u30d4\u30fc\u6b20\u5931\u304c\u795e\u7d4c\u767a\u9054\u3084\u8eab\u4f53\u6a5f\u80fd\u306b\u5f71\u97ff\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u304c\u4e3b\u8981\u306a\u75c5\u614b\u6a5f\u5e8f\u3067\u3059\u3002\u6cbb\u7642\u306f\u75c7\u72b6\u3092\u7de9\u548c\u3057\u3001\u767a\u9054\u652f\u63f4\u30fb\u6559\u80b2\u652f\u63f4\u30fb\u76ae\u819a\u7ba1\u7406\u306a\u3069\u3092\u542b\u3080 <strong>\u652f\u6301\u7642\u6cd5\u3068\u5305\u62ec\u7684\u30b1\u30a2<\/strong> \u304c\u4e2d\u5fc3\u3068\u306a\u308a\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<ul class=\"wp-block-list\">\n<li><strong>NIH GARD: 13q12.3 microdeletion syndrome<\/strong> \u2014 \u6982\u8981\u30fb\u75c7\u72b6\u30fb\u8868\u73fe\u578b\u7279\u5fb4\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21737\/13q123-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li><strong>Malacards: 13q12.3 microdeletion syndrome<\/strong> \u2014 \u7a00\u5c11\u75be\u60a3\u60c5\u5831\u3001\u81e8\u5e8a\u7279\u5fb4\u3002(<a href=\"https:\/\/www.malacards.org\/card\/13q123_microdeletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li><strong>Bartholdi D. et al. (2014)<\/strong> \u2014 13q12.3\u5fae\u5c0f\u6b20\u5931\u306e\u81e8\u5e8a\u5831\u544a\uff08\u77e5\u7684\u969c\u5bb3\u3001\u5c0f\u982d\u75c7\u3001\u6e7f\u75b9\u306a\u3069\uff09\u3002(<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/24664804\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n\n\n\n<li><strong>Monarch Initiative: 13q12.3 microdeletion syndrome<\/strong> \u2014 \u75c7\u5019\u7fa4\u5206\u985e\u30fb\u8868\u73fe\u578b\u3002(<a href=\"https:\/\/monarchinitiative.org\/MONDO%3A0018474?utm_source=chatgpt.com\">\u30e2\u30ca\u30fc\u30af\u30a4\u30cb\u30b7\u30a2\u30c1\u30d6<\/a>)<\/li>\n\n\n\n<li><strong>Wang M. et al. (2020\/2024) \u75c7\u4f8b\u5831\u544a<\/strong> \u2014 \u5fae\u5c0f\u6b20\u5931\u306e\u591a\u69d8\u306a\u81e8\u5e8a\u50cf\u3002(<a href=\"https:\/\/link.springer.com\/article\/10.1186\/s12920-020-00801-1?utm_source=chatgpt.com\">link.springer.com<\/a>)<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n","protected":false},"featured_media":0,"template":"","class_list":["post-16599","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\/16599","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\/16599\/revisions"}],"predecessor-version":[{"id":16769,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16599\/revisions\/16769"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16599"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}