{"id":16794,"date":"2026-01-20T03:37:21","date_gmt":"2026-01-20T03:37:21","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16794"},"modified":"2026-01-22T08:55:33","modified_gmt":"2026-01-22T08:55:33","slug":"18q-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/18q-deletion-syndrome\/","title":{"rendered":"18q 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>18q\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>18q-\u75c7\u5019\u7fa4\uff0818q minus syndrome\uff09<\/li>\n\n\n\n<li>18\u756a\u67d3\u8272\u4f53\u9577\u8155\u6b20\u5931\u75c7\u5019\u7fa4\uff08Deletion 18q syndrome\uff09<\/li>\n\n\n\n<li>\u30c9\u30fb\u30b0\u30eb\u30fc\u30b7\u30fc\u75c7\u5019\u7fa4 2\u578b\uff08de Grouchy syndrome type 2\uff09<br>\u203b1964\u5e74\u306bGrouchy\u3089\u306b\u3088\u3063\u3066\u5831\u544a\u3055\u308c\u305f\u305f\u3081\u3001\u6b74\u53f2\u7684\u306b\u3053\u3046\u547c\u3070\u308c\u307e\u3059\uff0818p\u6b20\u5931\u306f1\u578b\uff09\u3002<\/li>\n\n\n\n<li>18q\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 18q\uff09<\/li>\n\n\n\n<li>\u90e8\u5206\u768418\u756a\u67d3\u8272\u4f53\u30e2\u30ce\u30bd\u30df\u30fc\uff08Partial monosomy 18q\uff09<\/li>\n\n\n\n<li>\u9060\u4f4d18q\u6b20\u5931\u75c7\u5019\u7fa4\uff08Distal 18q deletion syndrome\uff09<\/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 \u9577\u8155\uff08q\uff09\u672b\u7aef\u9818\u57df\uff0818q21-qter\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e18\u756a\u67d3\u8272\u4f53\u306e\u300c\u9577\u8155\uff08q\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>18q\u6b20\u5931\u306b\u306f\u5927\u304d\u304f\u5206\u3051\u3066\u300c\u9060\u4f4d\u6b20\u5931\uff08Distal deletion\uff09\u300d\u3068\u300c\u8fd1\u4f4d\u6b20\u5931\uff08Proximal deletion\uff09\u300d\u306e2\u3064\u306e\u30bf\u30a4\u30d7\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u4e00\u822c\u7684\u306b\u300c18q deletion syndrome\u300d\u3084\u300c18q-\u75c7\u5019\u7fa4\u300d\u3068\u8a00\u3046\u5834\u5408\u3001\u6700\u3082\u983b\u5ea6\u306e\u9ad8\u3044**\u300c\u9060\u4f4d\u6b20\u5931\uff0818q21\u304b\u3089\u672b\u7aef\u307e\u3067\u306e\u6b20\u5931\uff09\u300d**\u3092\u6307\u3059\u3053\u3068\u304c\u307b\u3068\u3093\u3069\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u3082\u4e3b\u306b\u3053\u306e\u9060\u4f4d\u6b20\u5931\u306b\u3064\u3044\u3066\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u30b5\u30d6\u30bf\u30a4\u30d7\u3011<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9060\u4f4d\u6b20\u5931\uff08Classic type\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>18q21\u300118q22\u3001\u307e\u305f\u306f18q23\u306a\u3069\u306e\u30d0\u30f3\u30c9\u304b\u3089\u67d3\u8272\u4f53\u306e\u672b\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\uff09\u307e\u3067\u306e\u9818\u57df\u304c\u6b20\u5931\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u8133\u306e\u795e\u7d4c\u4f1d\u9054\uff08\u30df\u30a8\u30ea\u30f3\u5f62\u6210\uff09\u306b\u95a2\u308f\u308b<em>MBP<\/em>\u907a\u4f1d\u5b50\u3084\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u306a\u3069\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u75c7\u72b6\uff08\u4f4e\u8eab\u9577\u3001\u77e5\u7684\u969c\u5bb3\u3001\u767d\u8cea\u5f62\u6210\u4e0d\u5168\uff09\u306e\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8fd1\u4f4d\u6b20\u5931\uff08Interstitial type\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>18q11.2\u301c18q21.1\u5468\u8fba\u306e\u4e2d\u9593\u90e8\u5206\u304c\u6b20\u5931\u3057\u3001\u672b\u7aef\u306f\u6b8b\u3063\u3066\u3044\u308b\u30bf\u30a4\u30d7\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u75c7\u72b6\u306f\u9060\u4f4d\u6b20\u5931\u3068\u4e00\u90e8\u91cd\u8907\u3057\u307e\u3059\u304c\u3001\u7279\u5fb4\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u8fd1\u5e74\u3067\u306f\u5225\u306e\u75be\u60a3\u5358\u4f4d\uff08Proximal 18q deletion syndrome\uff09\u3068\u3057\u3066\u533a\u5225\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p><strong>\u7d0440,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75ab\u5b66:<\/strong> \u65b0\u751f\u5150\u306e\u7d0440,000\u4eba\u301c55,000\u4eba\u306b1\u4eba\u306e\u5272\u5408\u3067\u767a\u751f\u3059\u308b\u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u306f\u67d3\u8272\u4f53\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u4e2d\u3067\u306f\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u3044\u90e8\u985e\u306b\u5165\u308a\u307e\u3059\uff0818p\u6b20\u5931\u75c7\u5019\u7fa4\u3088\u308a\u3082\u308f\u305a\u304b\u306b\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u7537\u5973\u6bd4\u306b\u5927\u304d\u306a\u5dee\u306f\u306a\u304f\u3001\u307b\u307c\u540c\u7b49\u306e\u983b\u5ea6\u3067\u767a\u751f\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u4eba\u7a2e\u5dee:<\/strong> \u7279\u5b9a\u306e\u4eba\u7a2e\u3084\u5730\u57df\u306b\u3088\u308b\u504f\u308a\u306f\u5831\u544a\u3055\u308c\u3066\u304a\u3089\u305a\u3001\u4e16\u754c\u4e2d\u3067\u898b\u3089\u308c\u307e\u3059\u3002<\/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>18q deletion syndrome\u306e\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u307e\u3059\u304c\u3001\u6b20\u5931\u3057\u3066\u3044\u308b\u907a\u4f1d\u5b50\u306e\u7bc4\u56f2\u3084\u7a2e\u985e\u306b\u3088\u3063\u3066\u500b\u4eba\u5dee\uff08\u53ef\u5909\u8868\u73fe\u6027\uff09\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001**\u300c\u4f4e\u8eab\u9577\u300d\u300c\u8074\u899a\u969c\u5bb3\u300d\u300c\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u300d\u300c\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u300d**\u306e4\u3064\u306f\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u5171\u901a\u3057\u3066\u307f\u3089\u308c\u308b\u4e2d\u6838\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u30fb\u5185\u5206\u6ccc\uff08Growth\uff09<\/strong><\/p>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306b\u304a\u3044\u3066\u3001\u8eab\u4f53\u7684\u306a\u6210\u9577\u306e\u9045\u308c\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/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>\u60a3\u8005\u3055\u3093\u306e\u7d0480%\u4ee5\u4e0a\u306b\u4f4e\u8eab\u9577\uff08-2SD\u4ee5\u4e0b\uff09\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\uff08GH\uff09\u306e\u5206\u6ccc\u4e0d\u5168\u306b\u3088\u308b\u5834\u5408\u3068\u3001\u30db\u30eb\u30e2\u30f3\u306f\u6b63\u5e38\u3060\u304c\u9aa8\u306e\u53cd\u5fdc\u304c\u60aa\u3044\u5834\u5408\u306e\u4e21\u65b9\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>18q\u9818\u57df\u306b\u306f\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u50cd\u304d\u3092\u52a9\u3051\u308b\u907a\u4f1d\u5b50\uff08<em>GALR1<\/em>\u306a\u3069\uff09\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u3053\u308c\u3089\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<\/ul>\n\n\n\n<p><strong>2. \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\u304c\u3001\u5e45\u304c\u5e83\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u91cd\u5ea6\u306e\u969c\u5bb3\u3092\u6301\u3064\u65b9\u3082\u3044\u308c\u3070\u3001\u5883\u754c\u57df\u77e5\u80fd\u3084\u6b63\u5e38\u7bc4\u56f2\u306eIQ\u3092\u6301\u3061\u3001\u5927\u5b66\u3078\u9032\u5b66\u3057\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u65b9\u3082\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30df\u30a8\u30ea\u30f3\u5f62\u6210\u4e0d\u5168\uff08Dysmyelination\uff09\uff1a\u6700\u91cd\u8981\u306e\u7279\u5fb4<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u307b\u307c100%\u306e\u60a3\u8005\u3055\u3093\u306b\u3001\u8133MRI\u691c\u67fb\u3067**\u300c\u767d\u8cea\u306e\u4fe1\u53f7\u7570\u5e38\uff08T2\u9ad8\u4fe1\u53f7\uff09\u300d**\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u3001\u795e\u7d4c\u7d30\u80de\u306e\u8ef8\u7d22\u3092\u8986\u3046\u7d76\u7e01\u4f53\u3067\u3042\u308b\u300c\u30df\u30a8\u30ea\u30f3\uff08\u9ac4\u9798\uff09\u300d\u306e\u5f62\u6210\u304c\u4e0d\u5341\u5206\u306a\u305f\u3081\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u539f\u56e0\u306f\u300118q23\u9818\u57df\u306b\u3042\u308b**MBP\u907a\u4f1d\u5b50\uff08Myelin Basic Protein\uff09**\u306e\u6b20\u5931\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u9a5a\u304f\u3079\u304d\u3053\u3068\u306b\u3001\u753b\u50cf\u4e0a\u306f\u9855\u8457\u306a\u7570\u5e38\uff08\u8133\u306e\u914d\u7dda\u304c\u771f\u3063\u767d\u306b\u898b\u3048\u308b\u306a\u3069\uff09\u304c\u3042\u3063\u3066\u3082\u3001\u5b9f\u969b\u306e\u795e\u7d4c\u75c7\u72b6\uff08\u9ebb\u75fa\u306a\u3069\uff09\u306f\u8efd\u5fae\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u753b\u50cf\u6240\u898b\u3068\u81e8\u5e8a\u75c7\u72b6\u306e\u89e3\u96e2\uff08Mismatch\uff09\u304c\u672c\u75be\u60a3\u306e\u7279\u5fb4\u3068\u3044\u3048\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u795e\u7d4c\u4f1d\u9054\u901f\u5ea6\u306e\u4f4e\u4e0b\u306b\u3088\u308a\u3001\u53cd\u5fdc\u306e\u9045\u3055\u3084\u5354\u8abf\u904b\u52d5\u306e\u304e\u3053\u3061\u306a\u3055\u306b\u3064\u306a\u304c\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u904b\u52d5\u767a\u9054\u306b\u6bd4\u3079\u3066\u3001\u8a00\u8449\u306e\u9045\u308c\u304c\u76ee\u7acb\u3064\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\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\u904b\u52d5\u767a\u9054\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\uff08\u9996\u3059\u308f\u308a\u3001\u6b69\u884c\u306a\u3069\uff09\u304c\u9045\u308c\u308b\u539f\u56e0\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u8033\u30fb\u8074\u899a\uff08Ears &amp; Hearing\uff09<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u3068\u306a\u308b\u975e\u5e38\u306b\u7279\u5fb4\u7684\u306a\u6240\u898b\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5916\u8033\u9053\u72ed\u7a84\u30fb\u9589\u9396\uff08Aural atresia\/stenosis\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e\u7d0460\u301c80%\u306b\u3001<strong>\u8033\u306e\u7a74\uff08\u5916\u8033\u9053\uff09\u304c\u975e\u5e38\u306b\u72ed\u3044<\/strong>\u3001\u3042\u308b\u3044\u306f\u585e\u304c\u3063\u3066\u3044\u308b\u3068\u3044\u3046\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u306f18q22.3\u9818\u57df\u306b\u3042\u308b<em>TSHZ1<\/em>\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u304c\u95a2\u4e0e\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4f1d\u97f3\u6027\u96e3\u8074:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5916\u8033\u9053\u304c\u72ed\u3044\u305f\u3081\u3001\u97f3\u304c\u9f13\u819c\u306b\u5c4a\u304d\u306b\u304f\u304f\u3001\u96e3\u8074\u306b\u306a\u308a\u3084\u3059\u3044\u3067\u3059\u3002\u307e\u305f\u3001\u4e2d\u8033\u708e\u3092\u7e70\u308a\u8fd4\u3057\u3084\u3059\u3044\u50be\u5411\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8033\u4ecb\u306e\u5909\u5f62:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5bfe\u8033\u8f2a\uff08\u8033\u306e\u8edf\u9aa8\u306e\u9686\u8d77\uff09\u304c\u76ee\u7acb\u3064\u3001\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\u306a\u3069\u306e\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u6210\u9577\u3068\u3068\u3082\u306b\u5909\u5316\u3057\u307e\u3059\u304c\u3001\u5171\u901a\u3057\u305f\u7279\u5fb4\uff08Midface hypoplasia\uff09\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e2d\u9854\u9762\u4f4e\u5f62\u6210\uff08\u9854\u306e\u4e2d\u592e\u90e8\u304c\u5e73\u5766\u3001\u7aaa\u3093\u3067\u3044\u308b\uff09<\/li>\n\n\n\n<li>\u9bc9\u306e\u3088\u3046\u306a\u53e3\uff08Carp-shaped mouth\uff09\uff1a\u53e3\u89d2\u304c\u4e0b\u304c\u308a\u3001\u4e0a\u5507\u304c\u5bcc\u58eb\u5c71\u578b\u3092\u3057\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li>\u773c\u9593\u958b\u96e2\uff08\u76ee\u304c\u96e2\u308c\u3066\u3044\u308b\uff09\u3001\u5185\u773c\u89d2\u8d05\u76ae\u3002<\/li>\n\n\n\n<li>\u6df1\u3044\u773c\u7aa9\uff08\u76ee\u304c\u5965\u307e\u3063\u3066\u3044\u308b\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u9aa8\u683c\u30fb\u56db\u80a2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u7d30\u308a\u306e\u6307\uff08Tapered fingers\uff09:<\/strong> \u6307\u5148\u306b\u5411\u304b\u3063\u3066\u7d30\u304f\u306a\u308b\u3001\u72ec\u7279\u306e\u6307\u306e\u5f62\u3092\u3057\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8db3\u306e\u5909\u5f62:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5185\u53cd\u8db3\uff08Clubfoot\uff09\u3084\u3001\u8db3\u6307\u306e\u5909\u5f62\uff08\u91cd\u306a\u308a\u6307\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>&#8220;Rocker-bottom feet&#8221;\uff08\u63fa\u308a\u6905\u5b50\u72b6\u5e95\u8db3\uff09\u3068\u547c\u3070\u308c\u308b\u8db3\u306e\u88cf\u306e\u5f62\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u95a2\u7bc0:<\/strong> \u95a2\u7bc0\u30ea\u30a6\u30de\u30c1\u306a\u3069\u306e\u81ea\u5df1\u514d\u75ab\u75be\u60a3\u306e\u30ea\u30b9\u30af\u304c\u3084\u3084\u9ad8\u3044\u3068\u3044\u3046\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u884c\u52d5\u30fb\u7cbe\u795e\u9762<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u793e\u4f1a\u7684\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306e\u82e6\u624b\u3055\u3084\u3053\u3060\u308f\u308a\u306a\u3069\u3001ASD\u306e\u7279\u6027\u3092\u6301\u3064\u983b\u5ea6\u304c\u9ad8\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6c17\u5206\u969c\u5bb3:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u601d\u6625\u671f\u4ee5\u964d\u3001\u4e0d\u5b89\u969c\u5bb3\u3084\u3046\u3064\u75c7\u72b6\u306a\u3069\u306e\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u306e\u554f\u984c\u304c\u751f\u3058\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u6ce8\u610f\u6df1\u3044\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>7. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u514d\u75ab\u7cfb:<\/strong> IgA\u6b20\u4e4f\u75c7\u306a\u3069\u306b\u3088\u308a\u3001\u611f\u67d3\u75c7\u306b\u304b\u304b\u308a\u3084\u3059\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u81d3:<\/strong> \u814e\u5947\u5f62\uff08\u99ac\u8e44\u814e\u306a\u3069\uff09\u304c\u7a00\u306b\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u81ea\u5df1\u514d\u75ab\u75be\u60a3:<\/strong> \u7532\u72b6\u817a\u6a5f\u80fd\u4f4e\u4e0b\u75c7\u3084\u30bb\u30ea\u30a2\u30c3\u30af\u75c5\u306a\u3069\u306e\u30ea\u30b9\u30af\u304c\u5831\u544a\u3055\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>18\u756a\u67d3\u8272\u4f53\u9577\u8155\uff0818q\uff09\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>\u7d0480%\u4ee5\u4e0a<\/strong>\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u306e\u5f62\u6210\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\u975e\u5e38\u306b\u4f4e\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u89aa\u306e\u8ee2\u5ea7\u306a\u3069\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b8b\u308a\u306e\u6570%\u301c20%\u5f31\u306f\u3001\u89aa\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3084\u300c\u9006\u4f4d\u300d\u306a\u3069\u306e\u67d3\u8272\u4f53\u69cb\u9020\u7570\u5e38\u3092\u6301\u3063\u3066\u3044\u308b\u3053\u3068\u306b\u7531\u6765\u3057\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u306f\u3001\u6b21\u5b50\u306b\u3082\u907a\u4f1d\u3059\u308b\u30ea\u30b9\u30af\uff08\u518d\u767a\u7387\uff09\u304c\u9ad8\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u91cd\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\uff08Genotype-Phenotype Correlation\uff09<\/strong><\/p>\n\n\n\n<p>18q\u9818\u57df\u306e\u7814\u7a76\u306f\u9032\u3093\u3067\u304a\u308a\u3001\u3069\u306e\u907a\u4f1d\u5b50\u304c\u306a\u304f\u306a\u308b\u3068\u3069\u306e\u75c7\u72b6\u304c\u51fa\u308b\u304b\u304c\u6bd4\u8f03\u7684\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>MBP (18q23):<\/strong> \u30df\u30a8\u30ea\u30f3\u5f62\u6210\u4e0d\u5168\uff08\u8133\u306e\u767d\u8cea\u7570\u5e38\uff09\u3002<\/li>\n\n\n\n<li><strong>TSHZ1 (18q22.3):<\/strong> \u5916\u8033\u9053\u9589\u9396\u30fb\u72ed\u7a84\u3001\u4f1d\u97f3\u6027\u96e3\u8074\u3002<\/li>\n\n\n\n<li><strong>TCF4 (18q21.2):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u300c\u30d4\u30c3\u30c8\u30fb\u30db\u30d7\u30ad\u30f3\u30b9\u75c7\u5019\u7fa4\uff08Pitt-Hopkins syndrome\uff09\u300d\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3068\u3057\u3066\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u304f\u3001\u3053\u306e<em>TCF4<\/em>\u907a\u4f1d\u5b50\u307e\u3067\u542b\u307e\u308c\u3066\u3044\u308b\u5834\u5408\u3001\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3001\u904e\u547c\u5438\u767a\u4f5c\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u306a\u3069\u3001\u30d4\u30c3\u30c8\u30fb\u30db\u30d7\u30ad\u30f3\u30b9\u75c7\u5019\u7fa4\u306b\u985e\u4f3c\u3057\u305f\u91cd\u7be4\u306a\u75c7\u72b6\u304c\u73fe\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>GALR1 (18q23):<\/strong> \u6210\u9577\u30db\u30eb\u30e2\u30f3\u306e\u4f5c\u7528\u306b\u95a2\u4e0e\u3057\u3001\u4f4e\u8eab\u9577\u306e\u4e00\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\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\u5916\u8033\u9053\u72ed\u7a84\u3001\u4f4e\u8eab\u9577\u3001\u767a\u9054\u9045\u6ede\uff09\u306b\u52a0\u3048\u3001\u8133MRI\u3067\u306e\u7279\u5fb4\u7684\u306a\u767d\u8cea\u6240\u898b\u304c\u3042\u308c\u3070\u5f37\u304f\u7591\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\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\uff08\u3069\u3053\u304b\u3089\u3069\u3053\u307e\u3067\u6b20\u3051\u3066\u3044\u308b\u304b\uff09\u3068\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3092\u8a73\u7d30\u306b\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u3088\u308a\u3001<em>TCF4<\/em>\u304c\u542b\u307e\u308c\u3066\u3044\u308b\u304b\u3069\u3046\u304b\u306e\u78ba\u8a8d\u304c\u3067\u304d\u3001\u4e88\u5f8c\u4e88\u6e2c\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5927\u304d\u306a\u6b20\u5931\u3067\u3042\u308c\u3070\u691c\u51fa\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>\u8133MRI\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>**T2\u5f37\u8abf\u753b\u50cf\u3067\u306e\u3073\u307e\u3093\u6027\u9ad8\u4fe1\u53f7\uff08\u767d\u8cea\u7570\u5e38\uff09**\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u3053\u308c\u306f18q\u6b20\u5931\u75c7\u5019\u7fa4\u306b\u975e\u5e38\u306b\u7279\u7570\u7684\uff08pathognomonic\uff09\u306a\u6240\u898b\u3067\u3042\u308a\u3001\u8a3a\u65ad\u306e\u5f37\u529b\u306a\u88cf\u4ed8\u3051\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/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\u3068\u3001\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u9ad8\u3081\u308b\u305f\u3081\u306e\u5305\u62ec\u7684\u306a\u652f\u63f4\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u306e\u4e2d\u3067\u306f\u73cd\u3057\u304f\u3001\u4e00\u90e8\u306e\u75c7\u72b6\u306b\u5bfe\u3057\u3066\u300c\u539f\u56e0\u7642\u6cd5\u306b\u8fd1\u3044\u6cbb\u7642\uff08\u6210\u9577\u30db\u30eb\u30e2\u30f3\uff09\u300d\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u6210\u9577\u30fb\u5185\u5206\u6ccc\u5b66\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u30db\u30eb\u30e2\u30f3\uff08GH\uff09\u7642\u6cd5:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4f4e\u8eab\u9577\u304c\u3042\u308a\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u523a\u6fc0\u8a66\u9a13\u3067\u5206\u6ccc\u4e0d\u5168\u304c\u8a3c\u660e\u3055\u308c\u305f\u5834\u5408\u3001GH\u6295\u4e0e\u306e\u9069\u5fdc\u3068\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u307e\u305f\u3001\u5206\u6ccc\u304c\u6b63\u5e38\u3067\u3042\u3063\u3066\u3082\u300118q\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u60a3\u8005\u3055\u3093\u306b\u5bfe\u3057\u3066GH\u6295\u4e0e\u3092\u884c\u3046\u3068\u3001\u8eab\u9577\u306e\u4f38\u3073\u304c\u6539\u5584\u3059\u308b\u3068\u3044\u3046\u7814\u7a76\u30c7\u30fc\u30bf\u304c\u3042\u308a\u3001\u7c73\u56fd\u306a\u3069\u3067\u306f\u7a4d\u6975\u7684\u306b\u691c\u8a0e\u3055\u308c\u3066\u3044\u307e\u3059\uff08\u65e5\u672c\u3067\u306f\u9069\u5fdc\u57fa\u6e96\u306b\u5f93\u3044\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8033\u9f3b\u79d1\u30fb\u8074\u899a\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8074\u529b\u78ba\u4fdd:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5916\u8033\u9053\u72ed\u7a84\u306b\u3088\u308b\u96e3\u8074\u304c\u3042\u308b\u5834\u5408\u3001\u88dc\u8074\u5668\uff08\u9aa8\u5c0e\u88dc\u8074\u5668\u3084\u8edf\u9aa8\u4f1d\u5c0e\u88dc\u8074\u5668\u306a\u3069\uff09\u3092\u4f7f\u7528\u3057\u3001\u65e9\u671f\u304b\u3089\u8074\u899a\u5165\u529b\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u8a00\u8a9e\u767a\u9054\u306b\u304a\u3044\u3066\u6975\u3081\u3066\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u5916\u8033\u9053\u5f62\u6210\u8853\u306a\u3069\u306e\u624b\u8853\u306f\u3001\u9854\u9762\u795e\u7d4c\u306e\u8d70\u884c\u7570\u5e38\u306a\u3069\u306e\u30ea\u30b9\u30af\u304c\u3042\u308b\u305f\u3081\u3001\u614e\u91cd\u306b\u691c\u8a0e\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u795e\u7d4c\u30fb\u767a\u9054\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7642\u80b2\uff08\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u767a\u9054\u9045\u6ede\u306b\u5bfe\u3057\u3001\u7406\u5b66\u7642\u6cd5\uff08PT\uff09\u3001\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09\u3001\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09\u3092\u65e9\u671f\u304b\u3089\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30df\u30a8\u30ea\u30f3\u5f62\u6210\u4e0d\u5168\u306b\u3088\u308a\u60c5\u5831\u51e6\u7406\u901f\u5ea6\u304c\u3086\u3063\u304f\u308a\u306a\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u6642\u9593\u3092\u304b\u3051\u3066\u5f85\u3064\u3001\u7e70\u308a\u8fd4\u3057\u4f1d\u3048\u308b\u306a\u3069\u306e\u914d\u616e\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6559\u80b2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8074\u899a\u969c\u5bb3\u3084\u77e5\u7684\u767a\u9054\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\u3001\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u3001\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u3001\u807e\u5b66\u6821\u306a\u3069\u3001\u6700\u9069\u306a\u5b66\u7fd2\u74b0\u5883\u3092\u9078\u629e\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u30fb\u5408\u4f75\u75c7\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6574\u5f62\u5916\u79d1:<\/strong> \u5185\u53cd\u8db3\u3084\u5074\u5f2f\u75c7\u306b\u5bfe\u3057\u3066\u3001\u88c5\u5177\u7642\u6cd5\u3084\u624b\u8853\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u514d\u75ab\u30fb\u30a2\u30ec\u30eb\u30ae\u30fc:<\/strong> \u7532\u72b6\u817a\u6a5f\u80fd\u306e\u5b9a\u671f\u30c1\u30a7\u30c3\u30af\u3084\u3001\u611f\u67d3\u75c7\u3078\u306e\u5bfe\u5fdc\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u79d1:<\/strong> \u601d\u6625\u671f\u4ee5\u964d\u306e\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u4e0d\u8abf\u306b\u5bfe\u3057\u3001\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u85ac\u7269\u7642\u6cd5\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\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>\u672c\u75be\u60a3\u306f\u3001\u89aa\u306e\u8ee2\u5ea7\u306b\u7531\u6765\u3059\u308b\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u6b21\u5b50\u306e\u8a08\u753b\u304c\u3042\u308b\u5834\u5408\u306a\u3069\u306f\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5bb6\u65cf\u4f1a\uff08Chromosome 18 Registry &amp; Research Society\u306a\u3069\uff09\u304b\u3089\u306e\u60c5\u5831\u306f\u3001\u9577\u671f\u7684\u306a\u898b\u901a\u3057\u3092\u6301\u3064\u4e0a\u3067\u975e\u5e38\u306b\u6709\u76ca\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>18q deletion syndrome\u306f\u300118\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306e\u4e00\u90e8\u304c\u6b20\u3051\u308b\u3053\u3068\u3067\u751f\u3058\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u8033\u306e\u7a74\u304c\u72ed\u3044\u300d\u300c\u8eab\u9577\u304c\u4f4e\u3044\u300d\u300c\u8a00\u8449\u304c\u3086\u3063\u304f\u308a\u300d\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u6700\u5927\u306e\u7279\u5fb4\u306f\u8133MRI\u3067\u898b\u3089\u308c\u308b\u300c\u767d\u8cea\u306e\u5909\u5316\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u753b\u50cf\u3092\u898b\u308b\u3068\u9a5a\u304b\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u5b9f\u969b\u306e\u75c7\u72b6\u306f\u753b\u50cf\u307b\u3069\u91cd\u304f\u306a\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u591a\u304f\u306e\u304a\u5b50\u3055\u3093\u304c\u6642\u9593\u3092\u304b\u3051\u3066\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u3067\u5927\u5207\u306a\u306e\u306f\u3001\u300c\u805e\u3053\u3048\u300d\u3068\u300c\u6210\u9577\u300d\u306e\u30b5\u30dd\u30fc\u30c8\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8033\u306e\u7a74\u304c\u72ed\u304f\u3066\u805e\u3053\u3048\u306b\u304f\u3044\u5834\u5408\u306f\u3001\u88dc\u8074\u5668\u3092\u4f7f\u3063\u3066\u8a00\u8449\u306e\u5b66\u7fd2\u3092\u52a9\u3051\u307e\u3059\u3002\u307e\u305f\u3001\u8eab\u9577\u306e\u4f38\u3073\u304c\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u3001\u30db\u30eb\u30e2\u30f3\u6cbb\u7642\u3067\u6539\u5584\u3067\u304d\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u306b\u306f\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u3068\u5b9a\u671f\u7684\u306a\u5065\u5eb7\u30c1\u30a7\u30c3\u30af\u3092\u884c\u3046\u3053\u3068\u3067\u3001\u305d\u306e\u5b50\u3089\u3057\u3044\u8c4a\u304b\u306a\u4eba\u751f\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u3054\u5bb6\u65cf\u3060\u3051\u3067\u62b1\u3048\u8fbc\u307e\u305a\u3001\u533b\u7642\u30fb\u6559\u80b2\u30fb\u798f\u7949\u306e\u5c02\u9580\u5bb6\u30c1\u30fc\u30e0\u3068\u4e00\u7dd2\u306b\u6b69\u3093\u3067\u3044\u304d\u307e\u3057\u3087\u3046\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>Cody, J.D., et al.<\/strong> (2014). <em>Update on the natural history of 18q deletion syndrome.<\/em> American Journal of Medical Genetics Part A.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u4e16\u754c\u7684\u306a\u60a3\u8005\u56e3\u4f53\u300cChromosome 18 Registry &amp; Research Society\u300d\u306e\u7814\u7a76\u30b0\u30eb\u30fc\u30d7\u306b\u3088\u308b\u3001\u9577\u5e74\u306e\u8ffd\u8de1\u8abf\u67fb\u306b\u57fa\u3065\u3044\u305f\u6700\u3082\u5305\u62ec\u7684\u306a\u81e8\u5e8a\u30c7\u30fc\u30bf\u306e\u30a2\u30c3\u30d7\u30c7\u30fc\u30c8\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>18q Deletion Syndrome<\/em>. Initial Posting: June 6, 2011; Last Update: November 30, 2023. <em>Authors: Cody JD, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75be\u60a3\u306e\u8a3a\u65ad\u3001\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u7ba1\u7406\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u95a2\u3059\u308b\u6700\u65b0\u304b\u3064\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Lovering, A., et al.<\/strong> (2021). <em>Genotype-phenotype correlations in 18q deletion syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u907a\u4f1d\u5b50\u578b\uff08\u6b20\u5931\u7bc4\u56f2\uff09\u3068\u8868\u73fe\u578b\uff08\u75c7\u72b6\uff09\u306e\u95a2\u9023\u6027\u3001\u7279\u306bMBP\u3084TSHZ1\u306a\u3069\u306e\u91cd\u8981\u907a\u4f1d\u5b50\u306b\u3064\u3044\u3066\u306e\u8a73\u7d30\u306a\u89e3\u6790\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Cody, J.D., et al.<\/strong> (2005). <em>Growth hormone benefit in children with 18q deletions.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b18q\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u4f4e\u8eab\u9577\u60a3\u8005\u306b\u5bfe\u3059\u308b\u6210\u9577\u30db\u30eb\u30e2\u30f3\u7642\u6cd5\u306e\u52b9\u679c\u3092\u793a\u3057\u305f\u91cd\u8981\u306a\u81e8\u5e8a\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>18q deletions &#8211; distal<\/em> (2019).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u5e73\u6613\u306a\u8a00\u8449\u3067\u66f8\u304b\u308c\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002\u751f\u6d3b\u4e0a\u306e\u5177\u4f53\u7684\u306a\u30a2\u30c9\u30d0\u30a4\u30b9\u304c\u8c4a\u5bcc\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kato, Z., et al.<\/strong> (2010). <em>Thyroid dysfunction in patients with 18q deletion syndrome.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75be\u60a3\u306b\u304a\u3051\u308b\u81ea\u5df1\u514d\u75ab\u6027\u7532\u72b6\u817a\u75be\u60a3\u306e\u30ea\u30b9\u30af\u306b\u95a2\u3059\u308b\u7814\u7a76\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-16794","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\/16794","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":5,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16794\/revisions"}],"predecessor-version":[{"id":17611,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16794\/revisions\/17611"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16794"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}