{"id":16790,"date":"2026-01-20T03:30:31","date_gmt":"2026-01-20T03:30:31","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16790"},"modified":"2026-01-20T05:40:25","modified_gmt":"2026-01-20T05:40:25","slug":"18p-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/18p-deletion-syndrome\/","title":{"rendered":"18p 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>18p\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>18\u756a\u67d3\u8272\u4f53\u77ed\u8155\u6b20\u5931\u75c7\u5019\u7fa4\uff08Deletion 18p syndrome\uff09<\/li>\n\n\n\n<li>18p\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 18p\uff09<\/li>\n\n\n\n<li>\u90e8\u5206\u768418\u756a\u67d3\u8272\u4f53\u30e2\u30ce\u30bd\u30df\u30fc\uff08Partial monosomy 18p\uff09<\/li>\n\n\n\n<li>\u30c9\u30fb\u30b0\u30eb\u30fc\u30b7\u30fc\u75c7\u5019\u7fa4 1\u578b\uff08de Grouchy syndrome type 1\uff09<br>\u203b\u6b74\u53f2\u7684\u306a\u540d\u79f0\u3067\u3059\u300218q\u6b20\u5931\u75c7\u5019\u7fa4\u30922\u578b\u3068\u547c\u3073\u307e\u3059\u3002<\/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>18\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff09\u5168\u57df\u307e\u305f\u306f\u90e8\u5206\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e18\u756a\u67d3\u8272\u4f53\u306e\u300c\u77ed\u8155\uff08p\u30a2\u30fc\u30e0\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u90e8\u5206\u306e\u907a\u4f1d\u7269\u8cea\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u67d3\u8272\u4f53\u7570\u5e38\u306e\u8a73\u7d30\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u77ed\u8155\u6b20\u5931:<\/strong> \u77ed\u8155\u306e\u5168\u3066\uff08p11.32\u304b\u3089\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u4ed8\u8fd1\u307e\u3067\uff09\u304c\u5931\u308f\u308c\u3066\u3044\u308b\u30b1\u30fc\u30b9\u304c\u6700\u3082\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u90e8\u5206\u6b20\u5931:<\/strong> \u77ed\u8155\u306e\u4e00\u90e8\u3060\u3051\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5207\u65ad\u70b9\uff08Breakpoint\uff09:<\/strong> \u6b20\u5931\u304c\u59cb\u307e\u308b\u5834\u6240\uff08\u5207\u65ad\u70b9\uff09\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u75c7\u4f8b\u3067\u306f\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\uff08\u67d3\u8272\u4f53\u306e\u304f\u3073\u308c\u90e8\u5206\uff09\u306e\u975e\u5e38\u306b\u8fd1\u304f\u3067\u5207\u65ad\u304c\u8d77\u304d\u3066\u3044\u307e\u3059\uff08centromeric deletion\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u8133\u306e\u5f62\u6210\u3084\u6210\u9577\u3001\u795e\u7d4c\u4f1d\u9054\u306b\u95a2\u308f\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u305d\u308c\u3089\u304c\u300c\u30cf\u30d7\u30ed\u4e0d\u5168\uff082\u3064\u3042\u308b\u306f\u305a\u306e\u907a\u4f1d\u5b50\u304c1\u3064\u306b\u306a\u308a\u3001\u6a5f\u80fd\u304c\u8db3\u308a\u306a\u304f\u306a\u308b\u3053\u3068\uff09\u300d\u306e\u72b6\u614b\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u591a\u5f69\u306a\u75c7\u72b6\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\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><strong>\u7d0450,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75ab\u5b66:<\/strong> \u65b0\u751f\u5150\u306e\u7d0450,000\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u751f\u3059\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5e0c\u5c11\u75be\u60a3\uff08Rare Disease\uff09\u306b\u5206\u985e\u3055\u308c\u307e\u3059\u304c\u3001\u67d3\u8272\u4f53\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u3088\u304f\u77e5\u3089\u308c\u3066\u3044\u308b\u75be\u60a3\u306e\u4e00\u3064\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u5973\u6027\u306e\u60a3\u8005\u3055\u3093\u304c\u7537\u6027\u3088\u308a\u3082\u308f\u305a\u304b\u306b\u591a\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\uff08\u5973\u6027\uff1a\u7537\u6027 \uff1d \u7d043\uff1a2\uff09\u3002\u3053\u306e\u7406\u7531\u306f\u73fe\u6642\u70b9\u3067\u306f\u5b8c\u5168\u306b\u306f\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/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>18p deletion syndrome\u306e\u75c7\u72b6\u306f\u3001\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u975e\u5e38\u306b\u500b\u4eba\u5dee\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\u304c\u5927\u304d\u3044\u3053\u3068\u304c\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u5ea6\u306e\u8133\u5947\u5f62\u3092\u4f34\u3046\u30b1\u30fc\u30b9\u3082\u3042\u308c\u3070\u3001\u8efd\u5ea6\u306e\u5b66\u7fd2\u969c\u5bb3\u3068\u4f4e\u8eab\u9577\u306e\u307f\u3067\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u3001\u4e00\u6982\u306b\u300c\u3053\u3046\u306a\u308b\u300d\u3068\u8a00\u3044\u5207\u308c\u306a\u3044\u591a\u69d8\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4ee5\u4e0b\u306b\u3001\u4e3b\u8981\u306a\u7279\u5fb4\u3092\u7cfb\u7d71\u5225\u306b\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u5171\u901a\u3059\u308b\u3001\u611b\u3089\u3057\u3044\u7279\u5fb4\u7684\u306a\u304a\u9854\u7acb\u3061\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u76ee\u7acb\u305f\u306a\u304f\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9854\u306e\u5f62\u72b6:<\/strong> \u4e38\u3044\u9854\uff08Round face\uff09\u3002<\/li>\n\n\n\n<li><strong>\u76ee:<\/strong> \u773c\u77bc\u4e0b\u5782\uff08Ptosis\uff1a\u307e\u3076\u305f\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\uff09\u3001\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u5185\u773c\u89d2\u8d05\u76ae\uff08\u76ee\u982d\u306e\u76ae\u819a\u306e\u88ab\u3055\u308a\uff09\u3001\u659c\u8996\u3002<\/li>\n\n\n\n<li><strong>\u9f3b:<\/strong> \u4f4e\u304f\u5e73\u5766\u306a\u9f3b\u6839\u3001\u77ed\u3044\u9f3b\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u30fb\u984e:<\/strong> \u5927\u304d\u306a\u53e3\uff08Macrostomia\uff09\u3001\u53e3\u89d2\u304c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3001\u5c0f\u984e\u75c7\uff08\u3042\u3054\u304c\u5c0f\u3055\u3044\uff09\u3002<\/li>\n\n\n\n<li><strong>\u8033:<\/strong> \u8033\u304c\u5927\u304d\u3044\u3001\u4f4d\u7f6e\u304c\u4f4e\u3044\u3001\u8033\u4ecb\u306e\u5909\u5f62\u304c\u9855\u8457\uff08Protruding ears\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6b6f:<\/strong> \u866b\u6b6f\u306b\u306a\u308a\u3084\u3059\u3044\u3001\u6b6f\u4e26\u3073\u304c\u60aa\u3044\u3001\u6b6f\u8cea\u306e\u5f62\u6210\u4e0d\u5168\u3002\u5358\u4e00\u4e2d\u5207\u6b6f\uff08\u524d\u6b6f\u304c\u771f\u3093\u4e2d\u306b1\u672c\u3057\u304b\u306a\u3044\uff09\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u306f\u3001\u5f8c\u8ff0\u3059\u308b\u5168\u524d\u8133\u80de\u75c7\u306e\u5fae\u7d30\u306a\u5fb4\u5019\u3067\u3042\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u6210\u9577\u30fb\u5185\u5206\u6ccc\uff08Growth &amp; Endocrinology\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577\uff08Short stature\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u4e00\u822c\u7684\u306a\u7279\u5fb4\u306e\u4e00\u3064\u3067\u3059\u3002\u51fa\u751f\u6642\u306f\u6b63\u5e38\u7bc4\u56f2\u5185\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u8eab\u9577\u306e\u4f38\u3073\u304c\u7de9\u3084\u304b\u306b\u306a\u308a\u3001\u6700\u7d42\u7684\u306b\u4f4e\u8eab\u9577\uff08-2SD\u4ee5\u4e0b\uff09\u3068\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u6b20\u4e4f\u75c7:<\/strong> \u4e00\u90e8\u306e\u60a3\u8005\u3055\u3093\u3067\u306f\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\uff08GH\uff09\u306e\u5206\u6ccc\u4e0d\u8db3\u304c\u78ba\u8a8d\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001GH\u5206\u6ccc\u304c\u6b63\u5e38\u3067\u3082\u4f4e\u8eab\u9577\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7532\u72b6\u817a\u6a5f\u80fd\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3084\u3001\u81ea\u5df1\u514d\u75ab\u6027\u7532\u72b6\u817a\u708e\u306e\u30ea\u30b9\u30af\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6027\u6210\u719f:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u5834\u5408\u3001\u601d\u6625\u671f\u306e\u767a\u6765\u3084\u6027\u767a\u9054\u306f\u6b63\u5e38\u3067\u3059\u304c\u3001\u7121\u6708\u7d4c\u3084\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002\u5973\u6027\u60a3\u8005\u3067\u306e\u51fa\u7523\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u767a\u9054\u30fb\u8a8d\u77e5\u6a5f\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5e73\u5747\u7684\u306aIQ\u306f45\u301c50\u7a0b\u5ea6\u3068\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5e45\u304c\u5e83\u304f\u3001\u6b63\u5e38\u77e5\u80fd\uff08Normal IQ\uff09\u306e\u65b9\u304b\u3089\u91cd\u5ea6\u306e\u969c\u5bb3\u3092\u6301\u3064\u65b9\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5168\u822c\u7684\u306a\u767a\u9054\u9045\u6ede\u306e\u4e2d\u3067\u3082\u3001\u7279\u306b\u300c\u8a00\u8449\u306e\u9045\u308c\uff08Speech delay\uff09\u300d\u304c\u9855\u8457\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u69cb\u97f3\u969c\u5bb3\uff08\u767a\u97f3\u304c\u306f\u3063\u304d\u308a\u3057\u306a\u3044\uff09\u3084\u3001\u8868\u73fe\u6027\u8a00\u8a9e\uff08\u8a71\u3059\u3053\u3068\uff09\u306e\u56f0\u96e3\u3055\u304c\u76ee\u7acb\u3061\u307e\u3059\u304c\u3001\u7406\u89e3\u529b\uff08\u53d7\u5bb9\u8a00\u8a9e\uff09\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u3066\u3044\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u975e\u8a00\u8a9e\u7684\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08\u30b8\u30a7\u30b9\u30c1\u30e3\u30fc\u306a\u3069\uff09\u304c\u5f97\u610f\u306a\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u795e\u7d4c\u5b66\u7684\u6240\u898b\uff08Neurology\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u306b\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u9996\u3059\u308f\u308a\u3084\u6b69\u884c\u958b\u59cb\u304c\u9045\u308c\u308b\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30b8\u30b9\u30c8\u30cb\u30a2\uff08Dystonia\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8fd1\u5e74\u3001\u7279\u306b\u6ce8\u76ee\u3055\u308c\u3066\u3044\u308b\u75c7\u72b6\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u81ea\u5206\u306e\u610f\u601d\u3068\u306f\u7121\u95a2\u4fc2\u306b\u7b4b\u8089\u304c\u53ce\u7e2e\u3057\u3001\u4f53\u304c\u306d\u3058\u308c\u305f\u308a\u3001\u7570\u5e38\u306a\u59ff\u52e2\u3092\u3068\u3063\u305f\u308a\u3059\u308b\u4e0d\u968f\u610f\u904b\u52d5\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u601d\u6625\u671f\u304b\u3089\u82e5\u5e74\u6210\u4eba\u671f\u306b\u304b\u3051\u3066\u767a\u75c7\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u300118p\u9818\u57df\u306b\u3042\u308b<strong>GNAL\u907a\u4f1d\u5b50<\/strong>\u306e\u6b20\u5931\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7d0410\u301c15%\u306e\u60a3\u8005\u3055\u3093\u306b\u3051\u3044\u308c\u3093\u767a\u4f5c\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u591a\u304f\u306e\u5834\u5408\u306f\u85ac\u7269\u7642\u6cd5\u3067\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u53ef\u80fd\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u982d\u84cb\u5185\u75c5\u5909\uff1a\u5168\u524d\u8133\u80de\u75c7\uff08Holoprosencephaly; HPE\uff09<\/strong><\/p>\n\n\n\n<p><strong>\u672c\u75c7\u5019\u7fa4\u306b\u304a\u3044\u3066\u6700\u3082\u6ce8\u610f\u3059\u3079\u304d\u91cd\u7be4\u306a\u5408\u4f75\u75c7\u3067\u3059\u3002<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75c5\u614b:<\/strong> \u80ce\u5150\u671f\u306b\u8133\u304c\u5de6\u53f3\uff08\u53f3\u8133\u3068\u5de6\u8133\uff09\u306b\u5206\u96e2\u3059\u308b\u30d7\u30ed\u30bb\u30b9\u304c\u4e0d\u5b8c\u5168\u306b\u306a\u308b\u5148\u5929\u7570\u5e38\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u983b\u5ea6:<\/strong> 18p\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3055\u3093\u306e\u7d0410\u301c15%\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u91cd\u75c7\u5ea6:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u304c\u5168\u304f\u5206\u96e2\u3057\u306a\u3044\u6700\u91cd\u5ea6\uff08Alobar HPE\uff09\u304b\u3089\u3001\u90e8\u5206\u7684\u306a\u5206\u96e2\u4e0d\u5168\uff08Semilobar\/Lobar HPE\uff09\u3001\u3042\u308b\u3044\u306f\u8133\u6881\u6b20\u640d\u306e\u307f\u3001\u3055\u3089\u306b\u306fMRI\u3067\u3084\u3063\u3068\u308f\u304b\u308b\u7a0b\u5ea6\u306e\u5fae\u7d30\u306a\u3082\u306e\uff08Microform HPE\uff09\u307e\u3067\u3001\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08\u5e45\uff09\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9854\u9762\u6b63\u4e2d\u90e8\u306e\u5f62\u6210\u4e0d\u5168\uff08\u5358\u4e00\u4e2d\u5207\u6b6f\u306a\u3069\uff09\u306f\u3001HPE\u306e\u5b58\u5728\u3092\u793a\u5506\u3059\u308b\u91cd\u8981\u306a\u30b5\u30a4\u30f3\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u539f\u56e0:<\/strong> 18p\u9818\u57df\u306b\u3042\u308b<strong>TGIF1\u907a\u4f1d\u5b50<\/strong>\u306e\u6b20\u5931\u304c\u4e3b\u306a\u30ea\u30b9\u30af\u56e0\u5b50\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u514d\u75ab\u7cfb\u30fb\u305d\u306e\u4ed6<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u514d\u75ab\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>IgA\u6b20\u4e4f\u75c7:<\/strong> \u514d\u75ab\u30b0\u30ed\u30d6\u30ea\u30f3A\u304c\u4f4e\u5024\u3068\u306a\u308a\u3001\u98a8\u90aa\u3092\u5f15\u304d\u3084\u3059\u3044\u3001\u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3059\u306a\u3069\u306e\u6613\u611f\u67d3\u6027\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u5df1\u514d\u75ab\u75be\u60a3:<\/strong> \u95a2\u7bc0\u30ea\u30a6\u30de\u30c1\u3001\u5186\u5f62\u8131\u6bdb\u75c7\u3001\u767d\u6591\u306a\u3069\u306e\u81ea\u5df1\u514d\u75ab\u75be\u60a3\u3092\u767a\u75c7\u3059\u308b\u30ea\u30b9\u30af\u304c\u4e00\u822c\u96c6\u56e3\u3088\u308a\u9ad8\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\uff08<em>PTPN2<\/em>\u907a\u4f1d\u5b50\u306a\u3069\u306e\u95a2\u4e0e\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5074\u5f2f\u75c7\u3001\u6f0f\u6597\u80f8\u3001\u810a\u690e\u306e\u7570\u5e38\u3001\u624b\u8db3\u306e\u5909\u5f62\uff08\u5916\u53cd\u8098\u3001\u77ed\u3044\u6307\u306a\u3069\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>18\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306e\u6b20\u5931\u306b\u3088\u308b\u3001\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>De novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e<strong>\u7d043\u5206\u306e2<\/strong>\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5f8c\u306e\u521d\u671f\u6bb5\u968e\u3067\u5076\u7136\u767a\u751f\u3057\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u6b21\u5b50\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\u8ee2\u5ea7\u306a\u3069\u306e\u69cb\u9020\u7570\u5e38:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b8b\u308a\u306e\u7d043\u5206\u306e1\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u8907\u96d1\u306a\u67d3\u8272\u4f53\u7570\u5e38\u306b\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002\n<ul class=\"wp-block-list\">\n<li><strong>\u4e0d\u5747\u8861\u8ee2\u5ea7:<\/strong> \u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3092\u6301\u3063\u3066\u304a\u308a\u3001\u5b50\u4f9b\u306b\u6b20\u5931\u90e8\u5206\u304c\u907a\u4f1d\u3057\u305f\u5834\u5408\u3002<\/li>\n\n\n\n<li><strong>\u6d3e\u751f\u67d3\u8272\u4f53:<\/strong> \u91cd\u8907\u3068\u6b20\u5931\u304c\u540c\u6642\u306b\u8d77\u304d\u3066\u3044\u308b\u5834\u5408\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30f3\u30b0\u67d3\u8272\u4f5318\uff08Ring 18\uff09:<\/strong> \u67d3\u8272\u4f53\u306e\u4e21\u7aef\u304c\u5207\u308c\u3066\u8f2a\u3063\u304b\u72b6\u306b\u306a\u308a\u3001\u77ed\u8155\u3068\u9577\u8155\u306e\u4e21\u65b9\u304c\u4e00\u90e8\u6b20\u5931\u3057\u3066\u3044\u308b\u30bf\u30a4\u30d7\uff08\u3053\u306e\u5834\u5408\u300118q-\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u3082\u6df7\u3056\u308a\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8cac\u4efb\u907a\u4f1d\u5b50\u3068\u8868\u73fe\u578b\u76f8\u95a2<\/strong><\/p>\n\n\n\n<p>18p\u9818\u57df\u306e\u3069\u306e\u907a\u4f1d\u5b50\u304c\u3069\u306e\u75c7\u72b6\u306b\u95a2\u308f\u3063\u3066\u3044\u308b\u304b\u3001\u7814\u7a76\u304c\u9032\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>TGIF1:<\/strong> \u5168\u524d\u8133\u80de\u75c7\uff08HPE\uff09\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u306e\u4e00\u3064\u3002\u8133\u306e\u6b63\u4e2d\u7dda\u5f62\u6210\u306b\u95a2\u4e0e\u3002<\/li>\n\n\n\n<li><strong>GNAL:<\/strong> \u30b8\u30b9\u30c8\u30cb\u30a2\uff08\u4e0d\u968f\u610f\u904b\u52d5\uff09\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3002\u7dda\u6761\u4f53\u3067\u306e\u795e\u7d4c\u4f1d\u9054\u306b\u95a2\u4e0e\u3002<\/li>\n\n\n\n<li><strong>TWSG1:<\/strong> \u982d\u84cb\u9854\u9762\u306e\u5f62\u6210\u7570\u5e38\uff08\u5c0f\u984e\u75c7\u3084\u8033\u306e\u7570\u5e38\uff09\u306b\u95a2\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>PTPN2:<\/strong> \u81ea\u5df1\u514d\u75ab\u75be\u60a3\u306e\u30ea\u30b9\u30af\u306b\u95a2\u4e0e\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u81e8\u5e8a\u75c7\u72b6\uff08\u4f4e\u8eab\u9577\u3001\u767a\u9054\u9045\u6ede\u3001\u7279\u5fb4\u7684\u9854\u8c8c\uff09\u304b\u3089\u672c\u75be\u60a3\u3092\u7591\u3044\u3001\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f93\u6765\u304b\u3089\u884c\u308f\u308c\u3066\u3044\u308b\u691c\u67fb\u3067\u3059\u3002\u5927\u304d\u306a\u6b20\u5931\u3067\u3042\u308c\u3070\u3053\u308c\u3067\u8a3a\u65ad\u53ef\u80fd\u3067\u3059\u304c\u3001\u5fae\u7d30\u306a\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u73fe\u5728\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u3002\u6b20\u5931\u306e\u6b63\u78ba\u306a\u30b5\u30a4\u30ba\u3001\u5207\u65ad\u70b9\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092\u8a73\u7d30\u306b\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u753b\u50cf\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u982d\u90e8MRI\uff1a\u5168\u524d\u8133\u80de\u75c7\uff08HPE\uff09\u3084\u8133\u6881\u6b20\u640d\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3059\u308b\u305f\u3081\u306b\u5fc5\u9808\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u8133\u4e0b\u5782\u4f53MRI\uff1a\u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u4e0d\u5168\u304c\u7591\u308f\u308c\u308b\u5834\u5408\u306b\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5\u30fb\u533b\u5b66\u7684\u7ba1\u7406<\/strong><\/h2>\n\n\n\n<p>\u6b20\u5931\u3057\u305f\u67d3\u8272\u4f53\u3092\u4fee\u5fa9\u3059\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6cbb\u7642\u306f\u3001\u60a3\u8005\u3055\u3093\u4e00\u4eba\u3072\u3068\u308a\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3001\u5408\u4f75\u75c7\u306e\u65e9\u671f\u767a\u898b\u30fb\u7ba1\u7406\u3001\u305d\u3057\u3066\u7642\u80b2\u306b\u3088\u308b\u767a\u9054\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002\u4e00\u751f\u6daf\u306b\u308f\u305f\u308b\u5305\u62ec\u7684\u306a\u30b1\u30a2\uff08\u30c8\u30fc\u30bf\u30eb\u30b1\u30a2\uff09\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u30fb\u5185\u5206\u6ccc\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306a\u8eab\u4f53\u8a08\u6e2c\u3092\u884c\u3044\u3001\u6210\u9577\u66f2\u7dda\u3092\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u523a\u6fc0\u8a66\u9a13\u3092\u884c\u3044\u3001\u5206\u6ccc\u4e0d\u5168\u304c\u78ba\u8a8d\u3055\u308c\u305f\u5834\u5408\u306f<strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5<\/strong>\u306e\u9069\u5fdc\u3068\u306a\u308a\u307e\u3059\u3002\u5206\u6ccc\u4e0d\u5168\u304c\u306a\u3044\u5834\u5408\u3067\u3082\u3001SGA\u6027\u4f4e\u8eab\u9577\uff08\u80ce\u5185\u767a\u80b2\u4e0d\u5168\uff09\u306a\u3069\u306e\u57fa\u6e96\u3092\u6e80\u305f\u305b\u3070\u6cbb\u7642\u53ef\u80fd\u306a\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7532\u72b6\u817a:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5c11\u306a\u304f\u3068\u3082\u5e74\u306b1\u56de\u306f\u7532\u72b6\u817a\u6a5f\u80fd\uff08TSH, Free T4\uff09\u3068\u7532\u72b6\u817a\u81ea\u5df1\u6297\u4f53\u3092\u30c1\u30a7\u30c3\u30af\u3057\u3001\u6a5f\u80fd\u4f4e\u4e0b\u304c\u3042\u308c\u3070\u30db\u30eb\u30e2\u30f3\u88dc\u5145\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u30fb\u767a\u9054\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7642\u80b2\uff08\u65e9\u671f\u4ecb\u5165\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u5f8c\u65e9\u671f\u304b\u3089\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b\u8a00\u8a9e\u8a13\u7df4\u306f\u91cd\u8981\u3067\u3059\u3002\u624b\u8a71\u3084\u7d75\u30ab\u30fc\u30c9\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\uff08AAC\uff09\u306a\u3069\u306e\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\u3082\u7a4d\u6975\u7684\u306b\u53d6\u308a\u5165\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u767a\u9054\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u6559\u80b2\u3084\u901a\u7d1a\u6307\u5c0e\u306a\u3069\u3001\u500b\u5225\u306b\u9069\u3057\u305f\u5b66\u7fd2\u74b0\u5883\u3092\u6574\u3048\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30b8\u30b9\u30c8\u30cb\u30a2\u5bfe\u7b56:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u601d\u6625\u671f\u4ee5\u964d\u306b\u4e0d\u968f\u610f\u904b\u52d5\u304c\u51fa\u73fe\u3057\u305f\u5834\u5408\u306f\u3001\u795e\u7d4c\u5185\u79d1\u533b\u306b\u3088\u308b\u8a55\u4fa1\u3092\u53d7\u3051\u3001\u5185\u670d\u85ac\u3084\u30dc\u30c8\u30c3\u30af\u30b9\u6cbb\u7642\u306a\u3069\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5408\u4f75\u75c7\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u3068\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5168\u524d\u8133\u80de\u75c7\uff08HPE\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8efd\u5ea6\u306eHPE\u3067\u3042\u3063\u3066\u3082\u3001\u30ca\u30c8\u30ea\u30a6\u30e0\u30d0\u30e9\u30f3\u30b9\u306e\u7570\u5e38\uff08\u5c3f\u5d29\u75c7\u306a\u3069\uff09\u3084\u5185\u5206\u6ccc\u7570\u5e38\u3092\u4f34\u3046\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u6ce8\u610f\u6df1\u3044\u7ba1\u7406\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8074\u899a\u30fb\u773c\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306a\u8074\u529b\u691c\u67fb\u3068\u8996\u529b\u691c\u67fb\u3092\u884c\u3044\u307e\u3059\u3002\u773c\u77bc\u4e0b\u5782\u304c\u5f37\u304f\u8996\u91ce\u3092\u59a8\u3052\u308b\u5834\u5408\u306f\u624b\u8853\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6b6f\u79d1:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u866b\u6b6f\u30ea\u30b9\u30af\u304c\u9ad8\u3044\u305f\u3081\u3001\u5b9a\u671f\u7684\u306a\u6b6f\u79d1\u691c\u8a3a\u3068\u30d5\u30c3\u7d20\u5857\u5e03\u3001\u65e9\u671f\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u514d\u75ab:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u611f\u67d3\u75c7\u3092\u7e70\u308a\u8fd4\u3059\u5834\u5408\u306f\u514d\u75ab\u30b0\u30ed\u30d6\u30ea\u30f3\u5024\u3092\u6e2c\u5b9a\u3057\u307e\u3059\u3002\u307e\u305f\u3001\u95a2\u7bc0\u75db\u306a\u3069\u306e\u75c7\u72b6\u304c\u3042\u308c\u3070\u81ea\u5df1\u514d\u75ab\u75be\u60a3\u306e\u691c\u7d22\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5bb6\u65cf\u652f\u63f4\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b21\u5b50\u306e\u598a\u5a20\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306a\u3069\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08\u8ee2\u5ea7\u306e\u6709\u7121\uff09\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u306b\u3064\u3044\u3066\u3001\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3084\u8a8d\u5b9a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3068\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u4fdd\u56e0\u8005\u306e\u5834\u5408\u3001\u518d\u767a\u30ea\u30b9\u30af\u306f\u9ad8\u304f\u306a\u308a\u307e\u3059\u304c\u3001De novo\uff08\u7a81\u7136\u5909\u7570\uff09\u3067\u3042\u308c\u3070\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u60a3\u8005\u4f1a\u306a\u3069\u3092\u901a\u3058\u3066\u3001\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u5bb6\u65cf\u3068\u3064\u306a\u304c\u308b\u3053\u3068\u3082\u5927\u304d\u306a\u652f\u3048\u3068\u306a\u308a\u307e\u3059\uff08\u7c73\u56fd\u306eChromosome 18 Registry &amp; Research Society\u306a\u3069\u304c\u8457\u540d\u3067\u3059\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p>18p deletion syndrome\u306f\u300118\u756a\u67d3\u8272\u4f53\u306e\u77ed\u8155\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8a00\u8449\u306e\u9045\u308c\u300d\u3084\u300c\u8eab\u9577\u306e\u4f38\u3073\u60a9\u307f\u300d\u306a\u3069\u304c\u304d\u3063\u304b\u3051\u3067\u767a\u898b\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u305d\u306e\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u306f\u5341\u4eba\u5341\u8272\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u91cd\u7be4\u306a\u8133\u306e\u5408\u4f75\u75c7\u3092\u6301\u3064\u304a\u5b50\u3055\u3093\u3082\u3044\u308c\u3070\u3001\u3086\u3063\u304f\u308a\u306a\u304c\u3089\u3082\u6210\u9577\u3057\u3001\u5b66\u6821\u3092\u5352\u696d\u3057\u3066\u5c31\u52b4\u3057\u3066\u3044\u308b\u65b9\u3082\u305f\u304f\u3055\u3093\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u3068\u4ed8\u304d\u5408\u3063\u3066\u3044\u304f\u4e0a\u3067\u5927\u5207\u306a\u306e\u306f\u3001**\u300c\u5b9a\u671f\u7684\u306a\u5065\u5eb7\u30c1\u30a7\u30c3\u30af\u300d**\u3067\u3059\u3002\u7532\u72b6\u817a\u3084\u6210\u9577\u30db\u30eb\u30e2\u30f3\u3001\u6b6f\u3001\u8033\u306a\u3069\u306e\u5168\u8eab\u7ba1\u7406\u3092\u7d99\u7d9a\u3059\u308b\u3053\u3068\u3067\u3001\u5065\u5eb7\u4e0a\u306e\u30c8\u30e9\u30d6\u30eb\u3092\u672a\u7136\u306b\u9632\u304e\u3001QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u9ad8\u3081\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u4eba\u61d0\u3063\u3053\u304f\u3001\u975e\u8a00\u8a9e\u7684\u306a\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u306b\u9577\u3051\u3066\u3044\u308b\u304a\u5b50\u3055\u3093\u304c\u591a\u3044\u3068\u3082\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u7642\u30c1\u30fc\u30e0\u3068\u9023\u643a\u3057\u3001\u305d\u306e\u5b50\u306e\u500b\u6027\u3092\u7406\u89e3\u3057\u305f\u9069\u5207\u306a\u30b5\u30dd\u30fc\u30c8\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u8c4a\u304b\u306a\u4eba\u751f\u3092\u6b69\u3093\u3067\u3044\u304f\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>18p Deletion Syndrome<\/em>. Initial Posting: February 13, 2001; Last Update: November 19, 2020. <em>Authors: Hasi-Zaleska M, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75be\u60a3\u306e\u81e8\u5e8a\u30de\u30cd\u30b8\u30e1\u30f3\u30c8\u3001\u907a\u4f1d\u5b66\u3001\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u95a2\u3059\u308b\u6700\u3082\u4fe1\u983c\u3067\u304d\u308b\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Chromosome 18 Registry &amp; Research Society<\/strong>: <em>18p- Syndrome Guidebook.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u4e16\u754c\u6700\u5927\u306e\u60a3\u8005\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u8a73\u7d30\u306a\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002\u751f\u6d3b\u4e0a\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u3084\u6700\u65b0\u306e\u7814\u7a76\u6210\u679c\u304c\u7db2\u7f85\u3055\u308c\u3066\u3044\u307e\u3059\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Turleau, C.<\/strong> (2008). <em>Monosomy 18p.<\/em> Orphanet Journal of Rare Diseases, 3:4.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u75be\u60a3\u306e\u6b74\u53f2\u3001\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u8a3a\u65ad\u57fa\u6e96\u306a\u3069\u3092\u307e\u3068\u3081\u305f\u30ec\u30d3\u30e5\u30fc\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Cody, J.D., et al.<\/strong> (2009). <em>Genotype-phenotype correlations for the 18p- syndrome.<\/em> American Journal of Medical Genetics Part A.\n<ul class=\"wp-block-list\">\n<li>(\u203bTGIF1\u306a\u3069\u306e\u907a\u4f1d\u5b50\u3068\u81e8\u5e8a\u75c7\u72b6\uff08\u5168\u524d\u8133\u80de\u75c7\u306a\u3069\uff09\u306e\u95a2\u9023\u6027\u3092\u8a73\u7d30\u306b\u89e3\u6790\u3057\u305f\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Graziadio, C., et al.<\/strong> (2009). <em>Clinical features of patients with 18p deletion syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u5b9f\u969b\u306e\u60a3\u8005\u30c7\u30fc\u30bf\u306b\u57fa\u3065\u3044\u305f\u8eab\u4f53\u7684\u7279\u5fb4\u3084\u5408\u4f75\u75c7\u306e\u983b\u5ea6\u306b\u95a2\u3059\u308b\u5831\u544a\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>18p deletions<\/em> (2021).\n<ul class=\"wp-block-list\">\n<li>(\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306e\u308f\u304b\u308a\u3084\u3059\u3044\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002)<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n<p>\u8a73\u3057\u304f\u306f <a href=\"https:\/\/www.hiro-clinic.or.jp\/gene\/clinic\/\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u5168\u56fd\u306e\u30af\u30ea\u30cb\u30c3\u30af\u4e00\u89a7<\/a> \u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>","protected":false},"featured_media":0,"template":"","class_list":["post-16790","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\/16790","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":4,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16790\/revisions"}],"predecessor-version":[{"id":16822,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16790\/revisions\/16822"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16790"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}