{"id":16583,"date":"2026-01-19T05:43:47","date_gmt":"2026-01-19T05:43:47","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16583"},"modified":"2026-01-20T02:31:33","modified_gmt":"2026-01-20T02:31:33","slug":"12p12-1-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/12p12-1-microdeletion-syndrome\/","title":{"rendered":"12p12.1 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(12)(p12.1)<\/strong>\uff0812\u756a\u67d3\u8272\u4f53\u77ed\u8155p12.1\u90e8\u4f4d\u306e\u6b20\u5931\uff09(<a href=\"https:\/\/globalgenes.org\/subtype\/12p12-1-microdeletion-syndrome\/?utm_source=chatgpt.com\">Global Genes<\/a>)<\/li>\n\n\n\n<li><strong>Monosomy 12p12.1<\/strong>\uff0812p12.1\u5358\u4e00\u4f53\u75c7\uff09(<a href=\"https:\/\/globalgenes.org\/subtype\/12p12-1-microdeletion-syndrome\/?utm_source=chatgpt.com\">Global Genes<\/a>)<\/li>\n\n\n\n<li><strong>Lamb-Shaffer syndrome (LSS)<\/strong>\uff08\u30e9\u30f3\u30d6-\u30b7\u30e3\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff09 \u2014 12p12.1 \u6b20\u5931\u304c <strong>SOX5 \u907a\u4f1d\u5b50<\/strong> \u306e <strong>\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong> \u3092\u5f15\u304d\u8d77\u3053\u3059\u4f8b\u3068\u3057\u3066\u4ee3\u8868\u7684\u306a\u75c7\u5019\u7fa4\u540d\u3068\u3057\u3066\u7528\u3044\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/en.wikipedia.org\/wiki\/Lamb-Shaffer_syndrome?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/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><strong>\u30d2\u30c8\u7b2c12\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff0912.1 \u9818\u57df\u306e\u5fae\u7d30\u6b20\u5931\uff08microdeletion\uff09<\/strong> \u3067\u3059\u3002<br>\u3053\u306e\u9818\u57df\u306f\u67d3\u8272\u4f53 12p \u4e0a\u306e\u6bd4\u8f03\u7684\u5c0f\u3055\u306a\u30b3\u30d4\u30fc\u6570\u6b20\u5931\u9818\u57df\u3067\u3001\u6b20\u5931\u306e <strong>\u30b5\u30a4\u30ba\u3084\u5f71\u97ff\u907a\u4f1d\u5b50\u306e\u6570\u306f\u75c7\u4f8b\u3054\u3068\u306b\u7570\u306a\u308a\u307e\u3059<\/strong>\uff08SOX5 \u907a\u4f1d\u5b50\u306a\u3069\u91cd\u8981\u306a\u767a\u9054\u95a2\u9023\u907a\u4f1d\u5b50\u3092\u542b\u3080\u3053\u3068\u304c\u591a\u3044\uff09\u3002(<a href=\"https:\/\/globalgenes.org\/subtype\/12p12-1-microdeletion-syndrome\/?utm_source=chatgpt.com\">Global Genes<\/a>)<\/p>\n\n\n\n<p>\u6b20\u5931\u304c\u3042\u308b\u3068\u305d\u306e\u7bc4\u56f2\u5185\u306b\u542b\u307e\u308c\u3066\u3044\u308b\u907a\u4f1d\u5b50\u304c <strong>\u30cf\u30d7\u30ed\u4e0d\u5168\uff081\u30b3\u30d4\u30fc\u55aa\u5931\uff09<\/strong> \u3068\u306a\u308a\u3001\u795e\u7d4c\u767a\u9054\u3084\u8eab\u4f53\u767a\u80b2\u306a\u3069\u8907\u6570\u306e\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>12p12.1 microdeletion syndrome \u306f <strong>\u6975\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u69cb\u9020\u7570\u5e38\u75be\u60a3<\/strong> \u3067\u3042\u308a\u3001\u4e00\u822c\u96c6\u56e3\u306b\u304a\u3051\u308b\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e00\u822c\u7684\u306b\u67d3\u8272\u4f53\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u306f <strong>100\u4e07\u4eba\u306b\u6570\u4f8b\u4ee5\u4e0b\uff08&lt;&lt;1\/1,000,000\uff09<\/strong> \u3068\u3044\u3046\u975e\u5e38\u306b\u4f4e\u3044\u983b\u5ea6\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>12p12.1 \u6b20\u5931\u306b\u3064\u3044\u3066\u3001\u75c7\u4f8b\u5831\u544a\u4f8b\u6570\u305d\u306e\u3082\u306e\u304c <strong>\u6975\u3081\u3066\u5c11\u306a\u304f (&lt; 40 \u301c \u6570\u5341\u4f8b)<\/strong> \u3068\u3055\u308c\u308b\u7a00\u5c11\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u3002(<a href=\"https:\/\/en.wikipedia.org\/wiki\/Lamb-Shaffer_syndrome?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/li>\n\n\n\n<li>\u30e9\u30f3\u30d6-\u30b7\u30e3\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\u306e\u5831\u544a\u4f8b\u3092\u542b\u3081\u3066\u3082\u3001\u500b\u3005\u306e\u81e8\u5e8a\u30ec\u30dd\u30fc\u30c8\u30ec\u30d9\u30eb\u3067\u6563\u767a\u7684\u306b\u5831\u544a\u3055\u308c\u308b\u306e\u307f\u3067\u3042\u308a\u3001\u96c6\u56e3\u75ab\u5b66\u7684\u306a\u767a\u751f\u7387\u306f\u672a\u78ba\u7acb\u3067\u3059\u3002(<a href=\"https:\/\/en.wikipedia.org\/wiki\/Lamb-Shaffer_syndrome?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/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>12p12.1 microdeletion syndrome \u306f\u591a\u304f\u306e\u8eab\u4f53\u6a5f\u80fd\u30fb\u795e\u7d4c\u767a\u9054\u9762\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u75c7\u5019\u7fa4\u3067\u3042\u308a\u3001<strong>\u75c7\u4f8b\u306b\u3088\u3063\u3066\u8868\u73fe\u578b\u306e\u7a0b\u5ea6\u3084\u5185\u5bb9\u306f\u7570\u306a\u308a\u307e\u3059<\/strong>\u304c\u3001\u4ee3\u8868\u7684\u306a\u75c7\u72b6\u3068\u3057\u3066\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u767a\u9054\u9045\u5ef6\u30fb\u77e5\u7684\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u822c\u6027\u767a\u9054\u9045\u5ef6\uff08Global developmental delay\uff09<\/strong><strong><br><\/strong>\u591a\u304f\u306e\u60a3\u8005\u3067\u904b\u52d5\u30fb\u8a00\u8a9e\u6a5f\u80fd\u306a\u3069\u306e\u767a\u9054\u304c\u4e00\u822c\u7684\u306a\u5e74\u9f62\u3088\u308a\u9045\u308c\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/conditions\/C4755260?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u8457\u3057\u3044\u9045\u308c\uff08Prominent language impairment\uff09<\/strong><strong><br><\/strong>\u8a00\u8a9e\u7372\u5f97\u3084\u8868\u73fe\u306b\u9045\u308c\u304c\u898b\u3089\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/conditions\/C4755260?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08Intellectual disability\uff09<\/strong><strong><br><\/strong>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u6a5f\u80fd\u306e\u4f4e\u4e0b\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002(<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/313884?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n\n\n\n<li><strong>\u6ce8\u610f\u96c6\u4e2d\u56f0\u96e3\u30fb\u884c\u52d5\u7570\u5e38\uff08Behavioral abnormalities\uff09<\/strong><strong><br><\/strong>\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u69d8\u884c\u52d5\u3001\u6ce8\u610f\u6b20\u5982\u3001\u591a\u52d5\u6027\u3001\u60c5\u7dd2\u9762\u306e\u4e0d\u5b89\u5b9a\u6027\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12p12-1-microdeletion-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\u795e\u7d4c\u767a\u9054\u95a2\u9023\u75c7\u72b6\u306f\u300112p12.1 \u306b\u3042\u308b\u91cd\u8981\u306a\u767a\u9054\u95a2\u9023\u907a\u4f1d\u5b50\uff08\u7279\u306b <strong>SOX5<\/strong>\uff09\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u5f71\u97ff\u3059\u308b\u3082\u306e\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/en.wikipedia.org\/wiki\/Lamb-Shaffer_syndrome?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/p>\n\n\n\n<p><strong>2. \u9854\u8c8c\u30fb\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8efd\u5ea6\u306e\u9854\u9762\u7570\u5e38\uff08Mild facial dysmorphism\uff09<\/strong><strong><br><\/strong>\u984d\u306e\u7a81\u51fa\uff08frontal bossing\uff09\u3001\u76ee\u88c2\u306e\u4e0b\u659c\uff08downslanting palpebral fissures\uff09\u3001\u4e0a\u773c\u77bc\u76ae\u819a\u3072\u3060\uff08epicanthal folds\uff09\u3001\u5e45\u5e83\u3044\u9f3b\u6881\u3001\u4f4e\u4f4d\u8033\u306a\u3069\u306e\u7279\u5fb4\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/conditions\/C4755260?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u982d\u56f2\u306e\u5909\u52d5\uff08Microcephaly \u306e\u4f8b\u3082\u5831\u544a\uff09<\/strong><strong><br><\/strong>\u982d\u56f2\u304c\u5e73\u5747\u3088\u308a\u5c0f\u3055\u3044\uff08microcephaly\uff09\u304c\u898b\u3089\u308c\u308b\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.researchgate.net\/publication\/372877506_Microdeletion_12p121_involving_SRY-related_HMG-box_5_gene_with_developmental_delay_and_autistic_behavior_A_rare_case_report?utm_source=chatgpt.com\">ResearchGate<\/a>)<\/li>\n\n\n\n<li><strong>\u8eab\u4f53\u6210\u9577\u306e\u5f71\u97ff<\/strong><strong><br><\/strong>\u8eab\u4f53\u767a\u80b2\u3084\u8eab\u9577\u30fb\u4f53\u91cd\u306e\u767a\u9054\u306e\u9045\u308c\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u4e00\u822c\u7684\u306a\u767a\u80b2\u66f2\u7dda\u304b\u3089\u306f\u3084\u3084\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12p12-1-microdeletion-syndrome\/?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. \u8996\u899a\u30fb\u904b\u52d5\u30fb\u305d\u306e\u4ed6\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u659c\u8996\uff08Strabismus\uff09<\/strong> \u3084 <strong>\u8996\u795e\u7d4c\u767a\u80b2\u4e0d\u5168\uff08Optic nerve hypoplasia\uff09<\/strong> \u306a\u3069\u8996\u899a\u6a5f\u80fd\u7570\u5e38\u304c\u542b\u307e\u308c\u308b\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/conditions\/C4755260?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u7570\u5e38\uff08Skeletal abnormalities\uff09<\/strong><strong><br><\/strong>\u690e\u9aa8\u306e\u300c\u30d0\u30bf\u30d5\u30e9\u30a4\u690e\u4f53\uff08butterfly vertebrae\uff09\u300d\u3084 <strong>\u5074\u5f2f\u75c7\uff08scoliosis\uff09<\/strong> \u306a\u3069\u3001X\u7dda\u691c\u67fb\u4e0a\u306e\u9aa8\u683c\u5909\u5316\u3092\u4f34\u3046\u30b1\u30fc\u30b9\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/conditions\/C4755260?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u8133\u69cb\u9020\u7570\u5e38<\/strong><strong><br><\/strong>\u4e00\u90e8\u306e\u60a3\u8005\u306b\u304a\u3044\u3066\u8133\u306e\u69cb\u9020\u7570\u5e38\uff08\u4f8b\uff1a\u8133\u6881\u4f4e\u5f62\u6210 \u306a\u3069\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/conditions\/C4755260?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u7cfb\u7570\u5e38<\/strong><strong><br><\/strong>\u307e\u308c\u306b <strong>\u524d\u76ae\u8f2a\u5e2f\u306e\u62d8\u7e2e\uff08constriction ring around prepuce\uff09<\/strong> \u306e\u3088\u3046\u306a\u6ccc\u5c3f\u5668\u95a2\u9023\u7570\u5e38\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.researchgate.net\/publication\/372877506_Microdeletion_12p121_involving_SRY-related_HMG-box_5_gene_with_developmental_delay_and_autistic_behavior_A_rare_case_report?utm_source=chatgpt.com\">ResearchGate<\/a>)<\/li>\n\n\n\n<li><strong>\u8db3\u8dbe\u9023\u5408\uff08Syndactyly\uff09<\/strong><strong><br><\/strong>\u8db3\u306e\u7b2c\u56db\u30fb\u7b2c\u4e94\u8dbe\u306e\u90e8\u5206\u7684\u9023\u5408\uff08syndactyly\uff09\u304c\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u3082\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/www.researchgate.net\/publication\/372877506_Microdeletion_12p121_involving_SRY-related_HMG-box_5_gene_with_developmental_delay_and_autistic_behavior_A_rare_case_report?utm_source=chatgpt.com\">ResearchGate<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u75c7\u72b6\u306e\u7a0b\u5ea6\u3084\u5177\u4f53\u7684\u306a\u81e8\u5e8a\u50cf\u306f\u3001<strong>\u6b20\u5931\u3055\u308c\u308b\u9818\u57df\u306e\u5927\u304d\u3055\u3084\u5f71\u97ff\u3059\u308b\u907a\u4f1d\u5b50\u6570\u306b\u3088\u3063\u3066 \ub2e4\uc591\u6027\u304c\u3042\u308b<\/strong> \u305f\u3081\u3001\u5168\u54e1\u306b\u540c\u3058\u7279\u5fb4\u304c\u51fa\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>12p12.1 microdeletion syndrome \u306e\u6839\u672c\u7684\u306a\u539f\u56e0\u306f\u3001<strong>\u7b2c12\u756a\u67d3\u8272\u4f53\u77ed\u8155 p12.1 \u9818\u57df\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong> \u3067\u3059\u3002<br>\u3053\u306e\u6b20\u5931\u306f\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u6b20\u3051\u3066\u3044\u308b\u72b6\u614b\u3067\u3042\u308a\u3001<strong>\u30cf\u30d7\u30ed\u4e0d\u5168\uff08haploinsufficiency\uff09<\/strong> \u306e\u72b6\u614b\u306b\u306a\u308a\u307e\u3059 \u2014 \u3059\u306a\u308f\u3061\u3001\u5f53\u8a72\u9818\u57df\u306b\u3042\u308b\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c1\u30b3\u30d4\u30fc\u4e0d\u8db3\u3057\u3001\u305d\u308c\u306b\u3088\u308a\u6b63\u5e38\u306a\u767a\u9054\u3084\u5404\u6a5f\u80fd\u767a\u73fe\u304c\u963b\u5bb3\u3055\u308c\u308b\u3053\u3068\u304c\u4e3b\u8981\u306a\u767a\u75c5\u6a5f\u5e8f\u3067\u3059\u3002(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12p12-1-microdeletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/p>\n\n\n\n<p>\u6b20\u5931\u306e\u767a\u751f\u69d8\u5f0f\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306b\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3068\u3057\u3066\u767a\u751f\u3059\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u89aa\u306f\u6b63\u5e38\u306a\u67d3\u8272\u4f53\u914d\u5217\u3067\u3042\u308b\u30b1\u30fc\u30b9\u304c\u4e00\u822c\u7684\u3067\u3059\u3002(<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12p12-1-microdeletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n\n\n\n<li>\u6271\u308f\u308c\u308b\u75c7\u4f8b\u306b\u304a\u3044\u3066\u306f\u30d0\u30e9\u30f3\u30b9\u578b\u8ee2\u5ea7\u3084\u4ed6\u306e\u907a\u4f1d\u5b50\u69cb\u9020\u5909\u5316\u3068\u95a2\u9023\u3059\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u8a55\u4fa1\u306f\u500b\u5225\u306b\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u6b20\u5931\u9818\u57df\u5185\u306e\u907a\u4f1d\u5b50\u306e\u3046\u3061\u3001<strong>SOX5<\/strong>\uff08SRY-related HMG-box 5\uff09\u907a\u4f1d\u5b50\u306f\u7279\u306b\u795e\u7d4c\u767a\u9054\u3084\u9aa8\u683c\u30fb\u9854\u8c8c\u767a\u9054\u306b\u95a2\u4e0e\u3059\u308b\u91cd\u8981\u306a\u5019\u88dc\u3067\u3059\u3002SOX5 \u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u306f\u3001<strong>\u30e9\u30f3\u30d6-\u30b7\u30e3\u30d5\u30a1\u30fc\u75c7\u5019\u7fa4\uff08Lamb-Shaffer syndrome\uff09<\/strong> \u306e\u4e3b\u8981\u306a\u539f\u56e0\u3068\u3057\u3066\u3082\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/en.wikipedia.org\/wiki\/Lamb-Shaffer_syndrome?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5\uff08\u7ba1\u7406\u30fb\u652f\u63f4\uff09<\/strong><\/h2>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308d <strong>12p12.1 microdeletion syndrome \u306b\u5bfe\u3059\u308b\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<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08Physical therapy\uff09<\/strong><strong><br><\/strong>\u7b4b\u7dca\u5f35\u3084\u904b\u52d5\u6a5f\u80fd\u306e\u9045\u308c\u3001\u59ff\u52e2\u5236\u5fa1\u306a\u3069\u306b\u5bfe\u3059\u308b\u4ecb\u5165\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08Speech therapy\uff09<\/strong><strong><br><\/strong>\u8a00\u8a9e\u30fb\u767a\u97f3\u306e\u767a\u9054\u9045\u5ef6\u3078\u306e\u652f\u63f4\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08Occupational therapy\uff09<\/strong><strong><br><\/strong>\u65e5\u5e38\u751f\u6d3b\u6d3b\u52d5\uff08ADL\uff09\u3084\u611f\u899a\u7d71\u5408\u306b\u5bfe\u3059\u308b\u652f\u63f4\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u767a\u9054\u652f\u63f4\u306f <strong>\u65e9\u671f\u304b\u3089\u7d99\u7d9a\u7684\u306b\u884c\u3046\u3053\u3068\u304c\u4e88\u5f8c\u306b\u6709\u76ca<\/strong> \u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u884c\u52d5\u30fb\u5fc3\u7406\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u7642\u6cd5\u30fb\u5fc3\u7406\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><strong><br><\/strong>\u6ce8\u610f\u6b20\u5982\u3001\u591a\u52d5\u6027\u3001\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u69d8\u884c\u52d5\u306e\u652f\u63f4\u3002<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u652f\u63f4<\/strong><strong><br><\/strong>\u7279\u5225\u652f\u63f4\u6559\u80b2\u3084\u5b66\u7fd2\u652f\u63f4\u306b\u3088\u308b\u5b66\u7fd2\u80fd\u529b\u5411\u4e0a\u306e\u652f\u63f4\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8eab\u4f53\u7684\u5408\u4f75\u75c7\u306e\u8a55\u4fa1\u3068\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8996\u899a\u30fb\u773c\u79d1\u8a55\u4fa1<\/strong><strong><br><\/strong>\u659c\u8996\u3084\u8996\u795e\u7d4c\u7570\u5e38\u304c\u3042\u308b\u5834\u5408\u3001\u5c02\u9580\u533b\u7642\u7684\u4ecb\u5165\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9aa8\u683c\u30fb\u6574\u5f62\u5916\u79d1\u5bfe\u5fdc<\/strong><strong><br><\/strong>\u5074\u5f2f\u75c7\u3084\u9aa8\u683c\u5f62\u614b\u7570\u5e38\u304c\u3042\u308b\u5834\u5408\u3001\u6574\u5f62\u5916\u79d1\u7684\u8a55\u4fa1\u30fb\u6cbb\u7642\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u751f\u6b96\u5668\u7cfb\u7570\u5e38\u5bfe\u5fdc<\/strong><strong><br><\/strong>\u5c02\u9580\u79d1\u306b\u3088\u308b\u691c\u67fb\u30fb\u6cbb\u7642\uff08\u4f8b\uff1a\u524d\u76ae\u8f2a\u5e2f\u62d8\u7e2e\u306e\u4fee\u6b63\u306a\u3069\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u533b\u7642\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306a <strong>\u767a\u9054\u8a55\u4fa1\u30fb\u8eab\u4f53\u691c\u67fb<\/strong> \u306b\u3088\u308a\u3001\u652f\u63f4\u306e\u52b9\u679c\u3068\u75c7\u72b6\u306e\u9032\u884c\u3092\u7d99\u7d9a\u7684\u306b\u89b3\u5bdf\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u591a\u69d8\u306a\u81d3\u5668\u7cfb\u306b\u5f71\u97ff\u304c\u51fa\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u305f\u3081\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066 <strong>\u5faa\u74b0\u5668\u79d1\u30fb\u6ccc\u5c3f\u5668\u79d1\u30fb\u773c\u79d1\u30fb\u6574\u5f62\u5916\u79d1\u306a\u3069\u5c02\u9580\u79d1\u3068\u306e\u9023\u643a<\/strong> \u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>5. \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<strong>\u518d\u767a\u30ea\u30b9\u30af\u8a55\u4fa1\u3001\u5bb6\u65cf\u8a08\u753b<\/strong> \u306e\u305f\u3081\u306b\u5c02\u9580\u7684\u306a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>de novo \u304c\u591a\u3044\u3068\u306f\u3044\u3048\u3001\u5bb6\u65cf\u5185\u306b\u540c\u4e00\u67d3\u8272\u4f53\u5909\u7570\u304c\u3042\u308b\u53ef\u80fd\u6027\u304c\u5426\u5b9a\u3067\u304d\u306a\u3044\u305f\u3081\u3001\u907a\u4f1d\u5b66\u7684\u8a55\u4fa1\u304c\u91cd\u8981\u3067\u3059\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>12p12.1 microdeletion syndrome<\/strong> \u306f\u300112\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e <strong>p12.1 \u9818\u57df\u306e\u5fae\u7d30\u6b20\u5931<\/strong> \u306b\u3088\u3063\u3066\u751f\u3058\u308b\u6975\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4\u3067\u3059\u3002\u4e3b\u8981\u306a\u81e8\u5e8a\u7279\u5fb4\u3068\u3057\u3066\u306f <strong>\u77e5\u7684\u969c\u5bb3\u3001\u5168\u822c\u6027\u767a\u9054\u9045\u5ef6\u3001\u8a00\u8a9e\u767a\u9054\u9045\u5ef6\u3001\u884c\u52d5\u7570\u5e38\u3001\u8efd\u5ea6\u306e\u9854\u8c8c\u7570\u5e38<\/strong> \u306a\u3069\u304c\u307f\u3089\u308c\u3001\u8996\u899a\u7cfb\u3001\u9aa8\u683c\u7cfb\u3001\u6ccc\u5c3f\u751f\u6b96\u5668\u7cfb\u306a\u3069\u3055\u307e\u3056\u307e\u306a\u8eab\u4f53\u6a5f\u80fd\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75c7\u72b6\u306f\u3044\u305a\u308c\u3082\u3001\u6b20\u5931\u306b\u3088\u308b\u91cd\u8981\u907a\u4f1d\u5b50\uff08\u7279\u306b SOX5 \u306a\u3069\uff09\u306e <strong>\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong> \u306b\u8d77\u56e0\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u73fe\u5728\u78ba\u7acb\u3055\u308c\u3066\u304a\u3089\u305a\u3001\u767a\u9054\u652f\u63f4\u3001\u884c\u52d5\u30fb\u5fc3\u7406\u652f\u63f4\u3001\u8eab\u4f53\u7684\u5408\u4f75\u75c7\u3078\u306e\u9069\u5207\u306a\u533b\u7642\u5bfe\u5fdc\u3092\u542b\u3081\u305f <strong>\u591a\u8077\u7a2e\u306b\u3088\u308b\u5305\u62ec\u7684\u306a\u6cbb\u7642\u30fb\u652f\u63f4\u8a08\u753b<\/strong> \u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u305f\u539f\u56e0\u306e\u7406\u89e3\u3068\u5c06\u6765\u306e\u5bb6\u65cf\u8a08\u753b\u306e\u652f\u63f4\u3082\u91cd\u8981\u3067\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>Hiro Clinic Genetics: 12p12.1 Microdeletion Syndrome \u2014 Causes, symptoms, treatment overview. (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/12p12-1-microdeletion-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n\n\n\n<li>Orphanet: 12p12.1 microdeletion syndrome \u2014 Rare chromosomal anomaly syndrome overview. (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/313884?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n\n\n\n<li>NIH Genetic Testing Registry: 12p12.1 microdeletion syndrome \u2014 Phenotype summary including facial, developmental, skeletal features. (<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/gtr\/conditions\/C4755260?utm_source=chatgpt.com\">NCBI<\/a>)<\/li>\n\n\n\n<li>Global Genes: 12p12.1 microdeletion syndrome profile including related facial\/behavioral features. (<a href=\"https:\/\/globalgenes.org\/subtype\/12p12-1-microdeletion-syndrome\/?utm_source=chatgpt.com\">Global Genes<\/a>)<\/li>\n\n\n\n<li>Goyal M, et al. <em>Microdeletion 12p12.1 involving SOX5 gene with developmental delay and autistic behavior<\/em> (case report). (<a href=\"https:\/\/www.researchgate.net\/publication\/372877506_Microdeletion_12p121_involving_SRY-related_HMG-box_5_gene_with_developmental_delay_and_autistic_behavior_A_rare_case_report?utm_source=chatgpt.com\">ResearchGate<\/a>)<\/li>\n\n\n\n<li>Wikipedia: Lamb-Shaffer syndrome \u2014 clinical features and rarity. (<a href=\"https:\/\/en.wikipedia.org\/wiki\/Lamb-Shaffer_syndrome?utm_source=chatgpt.com\">\u30a6\u30a3\u30ad\u30da\u30c7\u30a3\u30a2<\/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-16583","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\/16583","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\/16583\/revisions"}],"predecessor-version":[{"id":16766,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16583\/revisions\/16766"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16583"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}