{"id":16943,"date":"2026-01-21T02:49:26","date_gmt":"2026-01-21T02:49:26","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16943"},"modified":"2026-01-22T08:47:59","modified_gmt":"2026-01-22T08:47:59","slug":"22q13-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/22q13-deletion-syndrome\/","title":{"rendered":"22q13 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>22q13\u6b20\u5931\u75c7\u5019\u7fa4<\/li>\n\n\n\n<li>\u30d5\u30a7\u30e9\u30f3\u30fb\u30de\u30af\u30c0\u30fc\u30df\u30c9\u75c7\u5019\u7fa4\uff08Phelan-McDermid syndrome; PMS\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u73fe\u5728\u3001\u56fd\u969b\u7684\u306b\u3082\u81e8\u5e8a\u73fe\u5834\u3067\u3082\u6700\u3082\u4e00\u822c\u7684\u306a\u547c\u79f0\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>22q13.3\u6b20\u5931\u75c7\u5019\u7fa4\uff0822q13.3 deletion syndrome\uff09<\/li>\n\n\n\n<li>22q13\u30e2\u30ce\u30bd\u30df\u30fc\uff08Monosomy 22q13\uff09<\/li>\n\n\n\n<li>SHANK3\u95a2\u9023\u969c\u5bb3\uff08SHANK3-related disorder\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u907a\u4f1d\u5b50\u6b20\u5931\u3060\u3051\u3067\u306a\u304f\u3001SHANK3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306e\u307f\u3067\u3082\u540c\u69d8\u306e\u75c7\u72b6\u3092\u5448\u3059\u308b\u305f\u3081\u3001\u3088\u308a\u5e83\u7fa9\u306e\u6982\u5ff5\u3068\u3057\u3066\u4f7f\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u30ea\u30f3\u30b022\u756a\u67d3\u8272\u4f53\u75c7\u5019\u7fa4\uff08Ring chromosome 22 syndrome\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u30ea\u30f3\u30b0\u67d3\u8272\u4f53\u306e\u5f62\u6210\u306b\u4f34\u3044\u300122q13\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u5834\u5408\u304c\u542b\u307e\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/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>22\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0913.3\u9818\u57df<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u3001\u30d2\u30c8\u306e22\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\u30a2\u30fc\u30e0\uff09\u306e\u6700\u3082\u672b\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff09\u306b\u4f4d\u7f6e\u3059\u308b\u300c13.3\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001DNA\u914d\u5217\u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\uff08\u30b3\u30d4\u30fc\u6570\u304c1\u3064\u306b\u306a\u308b\uff1a\u30cf\u30d7\u30ed\u4e0d\u5168\uff09\u306b\u3088\u3063\u3066\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u6700\u91cd\u8981\u907a\u4f1d\u5b50\uff1aSHANK3\u3011<\/p>\n\n\n\n<p>22q13\u9818\u57df\u306e\u6b20\u5931\u30b5\u30a4\u30ba\u306f\u60a3\u8005\u3055\u3093\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u7570\u306a\u308a\u3001\u6570\u767e\u30ad\u30ed\u30d9\u30fc\u30b9\uff08kb\uff09\u304b\u30899\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u4ee5\u4e0a\u306e\u5927\u304d\u306a\u6b20\u5931\u307e\u3067\u69d8\u3005\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u672c\u75c7\u5019\u7fa4\u306e\u7279\u5fb4\u7684\u306a\u795e\u7d4c\u75c7\u72b6\uff08\u81ea\u9589\u75c7\u3001\u8a00\u8a9e\u969c\u5bb3\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306a\u3069\uff09\u3092\u5f15\u304d\u8d77\u3053\u3059\u6c7a\u5b9a\u7684\u306a\u8981\u56e0\u306f\u3001\u3053\u306e\u9818\u57df\u306b\u542b\u307e\u308c\u308bSHANK3 (SH3 and multiple ankyrin repeat domains 3) \u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3067\u3042\u308b\u3053\u3068\u304c\u89e3\u660e\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>SHANK3\u907a\u4f1d\u5b50\u306e\u5f79\u5272\uff08\u30b7\u30ca\u30d7\u30b9\u306e\u8db3\u5834\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u795e\u7d4c\u7d30\u80de\uff08\u30cb\u30e5\u30fc\u30ed\u30f3\uff09\u540c\u58eb\u304c\u3064\u306a\u304c\u308b\u63a5\u5408\u90e8\u3092\u300c\u30b7\u30ca\u30d7\u30b9\u300d\u3068\u547c\u3073\u307e\u3059\u3002<\/li>\n\n\n\n<li>SHANK3\u30bf\u30f3\u30d1\u30af\u8cea\u306f\u3001\u3053\u306e\u30b7\u30ca\u30d7\u30b9\u306e\u300c\u30b7\u30ca\u30d7\u30b9\u5f8c\u90e8\uff08\u30dd\u30b9\u30c8\u30b7\u30ca\u30d7\u30b9\uff09\u300d\u306b\u304a\u3044\u3066\u3001\u69d8\u3005\u306a\u53d7\u5bb9\u4f53\u3084\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\u7269\u8cea\u3092\u9069\u5207\u306a\u5834\u6240\u306b\u914d\u7f6e\u3057\u3001\u56fa\u5b9a\u3059\u308b\u305f\u3081\u306e**\u300c\u8db3\u5834\uff08Scaffold\uff09\u300d**\u3068\u306a\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u3061\u3087\u3046\u3069\u3001\u5efa\u7269\u306e\u9244\u9aa8\u306e\u3088\u3046\u306a\u5f79\u5272\u3092\u679c\u305f\u3057\u3066\u304a\u308a\u3001SHANK3\u304c\u4e0d\u8db3\u3059\u308b\u3068\u30b7\u30ca\u30d7\u30b9\u306e\u69cb\u9020\u304c\u7dad\u6301\u3067\u304d\u305a\u3001\u795e\u7d4c\u7d30\u80de\u9593\u306e\u60c5\u5831\u4f1d\u9054\u304c\u3046\u307e\u304f\u884c\u308f\u308c\u306a\u304f\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u304c\u3001\u5b66\u7fd2\u3001\u8a18\u61b6\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u306b\u969c\u5bb3\u304c\u751f\u3058\u308b\u6839\u672c\u7684\u306a\u30e1\u30ab\u30cb\u30ba\u30e0\u3067\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>\u7a00\uff08Rare\uff09\u3060\u304c\u3001\u904e\u5c11\u8a3a\u65ad\u306e\u53ef\u80fd\u6027\u304c\u9ad8\u3044<\/strong><\/p>\n\n\n\n<p>\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u307e\u3067\u306b\u4e16\u754c\u3067\u6570\u5343\u4f8b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u5b9f\u969b\u306e\u983b\u5ea6\u306f\u3082\u3063\u3068\u9ad8\u3044\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u5e74\u306e\u7814\u7a76\u3067\u306f\u3001**\u300c\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3046\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u300d\u306e\u60a3\u8005\u3055\u3093\u306e\u7d040.5%\u301c2.0%**\u306b\u3001\u3053\u306eSHANK3\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u3084\u5909\u7570\u304c\u898b\u3064\u304b\u308b\u3068\u8a00\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u306e\u666e\u53ca\u4ee5\u524d\u306f\u3001\u7279\u5fb4\u7684\u306a\u8eab\u4f53\u6240\u898b\u304c\u76ee\u7acb\u305f\u306a\u3044\u3053\u3068\u3082\u3042\u308a\u3001\u5358\u306a\u308b\u300c\u539f\u56e0\u4e0d\u660e\u306e\u81ea\u9589\u75c7\u300d\u3084\u300c\u77e5\u7684\u969c\u5bb3\u300d\u3068\u8a3a\u65ad\u3055\u308c\u3066\u3044\u305f\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3068\u63a8\u6e2c\u3055\u308c\u307e\u3059\u3002\u7537\u5973\u5dee\u306f\u306a\u304f\u3001\u6027\u5225\u306b\u95a2\u4fc2\u306a\u304f\u767a\u75c7\u3057\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>22q13 deletion syndrome\u306e\u75c7\u72b6\u306f\u3001**\u300c\u65b0\u751f\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u300d\u300c\u91cd\u5ea6\u306e\u8a00\u8a9e\u767a\u9054\u9045\u6ede\u300d\u300c\u81ea\u9589\u50be\u5411\u300d**\u306e3\u3064\u304c\u4e2d\u6838\u7684\u306a\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u8eab\u4f53\u7684\u306a\u5947\u5f62\u306f\u8efd\u5fae\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u6210\u9577\u306b\u4f34\u3046\u884c\u52d5\u9762\u3084\u7cbe\u795e\u9762\u306e\u7279\u5fb4\u304c\u9855\u8457\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u65b0\u751f\u5150\u671f\u301c\u4e73\u5150\u671f\u306e\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u307b\u307c\u5168\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u898b\u3089\u308c\u308b\u6700\u521d\u306e\u5fb4\u5019\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u62b1\u3063\u3053\u3057\u305f\u6642\u306b\u3050\u306b\u3083\u3063\u3068\u3059\u308b\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306b\u4f34\u3044\u3001\u54fa\u4e73\u529b\u304c\u5f31\u304b\u3063\u305f\u308a\u3001\u30df\u30eb\u30af\u3092\u98f2\u3080\u306e\u306b\u6642\u9593\u304c\u304b\u304b\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u306e\u9045\u308c\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9996\u3059\u308f\u308a\u3001\u304a\u5ea7\u308a\u3001\u30cf\u30a4\u30cf\u30a4\u3001\u6b69\u884c\u306a\u3069\u306e\u30de\u30a4\u30eb\u30b9\u30c8\u30fc\u30f3\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3057\u304b\u3057\u3001\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u6700\u7d42\u7684\u306b\u72ec\u6b69\uff08\u4e00\u4eba\u6b69\u304d\uff09\u3092\u7372\u5f97\u3057\u307e\u3059\uff08\u5e73\u57473\u6b73\u9803\uff09\u3002\u6b69\u304d\u65b9\u306f\u4e0d\u5b89\u5b9a\u3067\u3001\u75b2\u308c\u3084\u3059\u3044\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u8a00\u8a9e\u30fb\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff08Speech &amp; Language\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u6df1\u523b\u304b\u3064\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u91cd\u5ea6\u306e\u8a00\u8a9e\u8868\u51fa\u969c\u5bb3\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u300c\u767a\u8a9e\u304c\u306a\u3044\uff08Non-verbal\uff09\u300d<\/strong>\u3001\u3042\u308b\u3044\u306f\u5358\u8a9e\u306e\u307f\u3067\u3001\u6587\u7ae0\u3092\u8a71\u3059\u3053\u3068\u304c\u96e3\u3057\u3044\u30b1\u30fc\u30b9\u304c\u975e\u5e38\u306b\u591a\u3044\uff08\u7d0475%\u4ee5\u4e0a\uff09\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u4e00\u6642\u7684\u306b\u8a00\u8449\u304c\u51fa\u3066\u3082\u3001\u305d\u306e\u5f8c\u6d88\u5931\u3059\u308b\uff08\u9000\u884c\uff09\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u53d7\u5bb9\u8a00\u8a9e\u3068\u306e\u89e3\u96e2\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u91cd\u8981\u306a\u70b9\u3068\u3057\u3066\u3001<strong>\u300c\u8a71\u3059\u3053\u3068\uff08\u8868\u51fa\uff09\u300d\u306f\u82e6\u624b\u3067\u3082\u3001\u300c\u805e\u304f\u3053\u3068\u30fb\u7406\u89e3\u3059\u308b\u3053\u3068\uff08\u53d7\u5bb9\uff09\u300d\u306e\u80fd\u529b\u306f\u6bd4\u8f03\u7684\u4fdd\u305f\u308c\u3066\u3044\u308b<\/strong>\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306e\u8a00\u3046\u3053\u3068\u3092\u7406\u89e3\u3057\u3001\u6307\u793a\u306b\u5f93\u3046\u3053\u3068\u304c\u3067\u304d\u308b\u305f\u3081\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u3084\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u306eAAC\uff08\u88dc\u52a9\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff09\u304c\u975e\u5e38\u306b\u6709\u52b9\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u7279\u6027<\/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\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u60a3\u8005\u3055\u3093\u306e\u591a\u304f\u304cASD\u306e\u8a3a\u65ad\u57fa\u6e96\u3092\u6e80\u305f\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u8996\u7dda\u304c\u5408\u308f\u306a\u3044\u3001\u53cd\u5fa9\u884c\u52d5\uff08\u5e38\u540c\u884c\u52d5\uff09\u3001\u3053\u3060\u308f\u308a\u3001\u5bfe\u4eba\u95a2\u4fc2\u306e\u69cb\u7bc9\u304c\u82e6\u624b\u306a\u3069\u306e\u7279\u5fb4\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u75db\u307f\u3078\u306e\u920d\u611f\u3055\uff08High pain tolerance\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u602a\u6211\u3092\u3057\u305f\u308a\u3001\u6ce8\u5c04\u3092\u6253\u3063\u305f\u308a\u3057\u3066\u3082\u6ce3\u304b\u306a\u3044\u3001\u75db\u304c\u3089\u306a\u3044\u3068\u3044\u3046\u7279\u5fb4\u304c\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u9aa8\u6298\u3084\u866b\u6b6f\u3001\u4e2d\u8033\u708e\u306a\u3069\u306e\u767a\u898b\u304c\u9045\u308c\u308b\u539f\u56e0\u3068\u306a\u308b\u305f\u3081\u3001\u6ce8\u610f\u6df1\u3044\u89b3\u5bdf\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u565b\u3080\u30fb\u8210\u3081\u308b\uff08Mouthing \/ Chewing\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e73\u5e7c\u5150\u671f\u3092\u904e\u304e\u3066\u3082\u3001\u304a\u3082\u3061\u3083\u3084\u670d\u3001\u81ea\u5206\u306e\u624b\u306a\u3069\u3092\u565b\u3093\u3060\u308a\u8210\u3081\u305f\u308a\u3059\u308b\u884c\u52d5\u304c\u7d9a\u304f\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7761\u7720\u969c\u5bb3\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5165\u7720\u56f0\u96e3\u3084\u4e2d\u9014\u899a\u9192\u306a\u3069\u3001\u7761\u7720\u306e\u30ea\u30ba\u30e0\u304c\u6574\u3044\u306b\u304f\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u9000\u884c\uff08Regression\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u601d\u6625\u671f\u3084\u6210\u4eba\u671f\u3001\u3042\u308b\u3044\u306f\u611f\u67d3\u75c7\u306a\u3069\u306e\u30b9\u30c8\u30ec\u30b9\u3092\u304d\u3063\u304b\u3051\u306b\u3001\u4e00\u5ea6\u7372\u5f97\u3057\u305f\u30b9\u30ad\u30eb\uff08\u8a00\u8449\u3084\u6392\u6cc4\u306e\u81ea\u7acb\u306a\u3069\uff09\u304c\u5931\u308f\u308c\u308b**\u300c\u9000\u884c\u300d**\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u307e\u305f\u3001\u5468\u671f\u7684\u306b\u6c17\u5206\u304c\u5909\u52d5\u3057\u305f\u308a\u3001\u7dca\u5f35\u75c5\uff08\u30ab\u30bf\u30c8\u30cb\u30a2\uff09\u306e\u3088\u3046\u306a\u75c7\u72b6\u304c\u51fa\u305f\u308a\u3059\u308b\u300c\u7cbe\u795e\u533b\u5b66\u7684\u306a\u9000\u884c\u300d\u3092\u5448\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u3001\u9577\u671f\u7684\u306a\u30b1\u30a2\u306e\u8ab2\u984c\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u8eab\u4f53\u7684\u7279\u5fb4\u30fb\u9854\u8c8c\uff08Dysmorphism\uff09<\/strong><\/p>\n\n\n\n<p>\u7279\u5fb4\u306f\u8efd\u5fae\u3067\u3059\u304c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u6240\u898b\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u982d\u90e8\u30fb\u9854\u8c8c\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9577\u982d\uff08Dolichocephaly\uff09\uff1a\u982d\u304c\u524d\u5f8c\u306b\u9577\u3044\u3002<\/li>\n\n\n\n<li>\u5927\u304d\u306a\u624b\u8db3\uff1a\u8eab\u4f53\u306b\u5bfe\u3057\u3066\u624b\u8db3\u304c\u5927\u304d\u3081\u3067\u3042\u308b\u3002<\/li>\n\n\n\n<li>\u9577\u3044\u307e\u3064\u6bdb\u3001\u773c\u77bc\u4e0b\u5782\u3002<\/li>\n\n\n\n<li>\u5e73\u5766\u306a\u4e2d\u9854\u9762\u3001\u5c16\u3063\u305f\u984e\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u722a\u306e\u7570\u5f62\u6210\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8db3\u306e\u722a\u304c\u8584\u3044\u3001\u5272\u308c\u3084\u3059\u3044\u3001\u3042\u308b\u3044\u306f\u5f62\u6210\u4e0d\u5168\uff08Dysplastic toenails\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u3053\u308c\u306f\u4e73\u5150\u671f\u306e\u8a3a\u65ad\u306e\u5c0f\u3055\u306a\u624b\u304c\u304b\u308a\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6210\u9577\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8eab\u9577\u306f\u6b63\u5e38\u301c\u9ad8\u8eab\u9577\u306e\u50be\u5411\u304c\u3042\u308a\u3001\u6210\u9577\u306f\u826f\u597d\u3067\u3059\uff08SHANK3\u907a\u4f1d\u5b50\u4ee5\u5916\u306b\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u306e\u91cd\u8907\u304c\u95a2\u4e0e\u3059\u308b\u5834\u5408\u306a\u3069\u306f\u4f8b\u5916\u3082\u3042\u308a\u307e\u3059\uff09\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\uff1a<\/strong> \u7d0425\u301c40%\u306e\u60a3\u8005\u3055\u3093\u306b\u898b\u3089\u308c\u307e\u3059\u3002\u767a\u4f5c\u306e\u7a2e\u985e\u306f\u69d8\u3005\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668\uff1a<\/strong> \u6c34\u814e\u75c7\u3084\u591a\u56a2\u80de\u814e\u306a\u3069\uff08\u7d0425%\uff09\u3002<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668\uff1a<\/strong> \u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09\u3001\u5468\u671f\u6027\u5614\u5410\u3001\u4fbf\u79d8\u3001\u4e0b\u75e2\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u30ea\u30f3\u30d1\u6d6e\u816b\uff1a<\/strong> \u8db3\u306e\u3080\u304f\u307f\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>22\u756a\u67d3\u8272\u4f53\u9577\u8155\u672b\u7aef\uff0822q13.3\uff09\u306b\u304a\u3051\u308b\u6b20\u5931\u306b\u3088\u308b\u3001SHANK3\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong>\u304c\u4e3b\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong><\/p>\n\n\n\n<p>SHANK3\u907a\u4f1d\u5b50\u306f\u901a\u5e382\u672c\uff08\u7236\u7531\u6765\u30fb\u6bcd\u7531\u6765\uff09\u3042\u308a\u307e\u3059\u304c\u3001\u6b20\u5931\u306b\u3088\u308a1\u672c\uff08\u534a\u5206\uff09\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u306b\u3088\u308a\u3001\u30b7\u30ca\u30d7\u30b9\u306e\u300c\u8db3\u5834\u300d\u3068\u306a\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u91cf\u304c\u4e0d\u8db3\u3057\u3001\u30b0\u30eb\u30bf\u30df\u30f3\u9178\u53d7\u5bb9\u4f53\u306a\u3069\u304c\u6b63\u3057\u304f\u6a5f\u80fd\u3057\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u7d50\u679c\u3068\u3057\u3066\u3001\u795e\u7d4c\u56de\u8def\u306e\u5f62\u6210\u3084\u53ef\u5851\u6027\uff08\u5b66\u7fd2\u80fd\u529b\uff09\u306b\u969c\u5bb3\u304c\u751f\u3058\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \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\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5927\u591a\u6570\u306f\u3001\u4e21\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u751f\u3058\u305f\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u672b\u7aef\u306e\u5358\u7d14\u306a\u6b20\u5931\uff08Terminal deletion\uff09\u304c\u6700\u3082\u4e00\u822c\u7684\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30ea\u30f3\u30b022\u756a\u67d3\u8272\u4f53\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u306e\u4e21\u7aef\u304c\u5207\u308c\u3066\u30ea\u30f3\u30b0\u72b6\u306b\u3064\u306a\u304c\u308b\u969b\u306b\u300122q13\u9818\u57df\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u30ea\u30f3\u30b0\u67d3\u8272\u4f53\u306e\u4e0d\u5b89\u5b9a\u3055\u306b\u3088\u308b\u5225\u306e\u75c7\u72b6\u304c\u52a0\u308f\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e0d\u5747\u8861\u8ee2\u5ea7\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u306b\u3001\u5b50\u306b\u6b20\u5931\u304c\u907a\u4f1d\u3059\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>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u300c\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u300d\u300c\u8a00\u8449\u306e\u9045\u308c\u300d\u300c\u81ea\u9589\u50be\u5411\u300d\u304c\u3042\u308a\u3001MRI\u306a\u3069\u3067\u660e\u3089\u304b\u306a\u8133\u5947\u5f62\u304c\u306a\u3044\u5834\u5408\u306b\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\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u672c\u75c7\u5019\u7fa4\u306e\u8a3a\u65ad\u306b\u304a\u3051\u308b**\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\uff08\u7b2c\u4e00\u9078\u629e\uff09**\u306e\u691c\u67fb\u3067\u3059\u3002<\/li>\n\n\n\n<li>22q13.3\u9818\u57df\u306e\u6b20\u5931\u3092\u78ba\u5b9f\u306b\u691c\u51fa\u3057\u3001\u6b20\u5931\u30b5\u30a4\u30ba\u3084<em>SHANK3<\/em>\u907a\u4f1d\u5b50\u306e\u6709\u7121\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f93\u6765\u306eG\u30d0\u30f3\u30c9\u691c\u67fb\uff08\u9855\u5fae\u93e1\uff09\u3067\u306f\u3001\u6b20\u5931\u304c\u5fae\u7d30\u306a\u5834\u5408\u306b\u898b\u9003\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u3063\u305f\u305f\u3081\u3001CMA\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u907a\u4f1d\u5b50\u30d1\u30cd\u30eb\u691c\u67fb \/ \u5168\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u6b20\u5931\u3067\u306f\u306a\u304f\u3001<em>SHANK3<\/em>\u907a\u4f1d\u5b50\u306e\u4e2d\u306e\u5c0f\u3055\u306a\u70b9\u5909\u7570\uff08\u6587\u5b57\u5316\u3051\uff09\u3067\u3082\u540c\u3058\u75c7\u72b6\u304c\u51fa\u308b\u305f\u3081\u3001CMA\u3067\u7570\u5e38\u304c\u306a\u304b\u3063\u305f\u5834\u5408\u306b\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u8a3a\u65ad\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u982d\u90e8MRI\u691c\u67fb\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u306e\u69cb\u9020\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u304f\u3082\u819c\u56a2\u80de\u3084\u8133\u6881\u306e\u83f2\u8584\u5316\u3001\u9ac4\u9798\u5316\u9045\u5ef6\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u7279\u7570\u7684\u306a\u6240\u898b\u306f\u3042\u308a\u307e\u305b\u3093\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\u3001\u73fe\u6642\u70b9\u3067\u306f\u627f\u8a8d\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001SHANK3\u306b\u95a2\u9023\u3059\u308b\u30e1\u30ab\u30cb\u30ba\u30e0\uff08IGF-1\u306a\u3069\uff09\u3092\u6a19\u7684\u3068\u3057\u305f\u5275\u85ac\u7814\u7a76\u3084\u81e8\u5e8a\u8a66\u9a13\u304c\u4e16\u754c\u4e2d\u3067\u6d3b\u767a\u306b\u884c\u308f\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306f\u3001\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u7642\u80b2\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u7642\u80b2\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u7642\u80b2\uff08Early Intervention\uff09\uff1a<\/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<\/ul>\n<\/li>\n\n\n\n<li><strong>\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\uff08AAC\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u3082\u91cd\u8981\u306a\u652f\u63f4\u306e\u4e00\u3064\u3067\u3059\u3002<\/strong><\/li>\n\n\n\n<li>\u8a00\u8449\u304c\u51fa\u306b\u304f\u304f\u3066\u3082\u7406\u89e3\u529b\u306f\u3042\u308b\u305f\u3081\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\uff08VOCA\uff09\u3001\u7d75\u30ab\u30fc\u30c9\u3001\u30b5\u30a4\u30f3\u306a\u3069\u3092\u7a4d\u6975\u7684\u306b\u5c0e\u5165\u3057\u3001\u610f\u601d\u4f1d\u9054\u306e\u624b\u6bb5\u3092\u78ba\u4fdd\u3057\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u308a\u3001\u304b\u3093\u3057\u3083\u304f\u3084\u884c\u52d5\u969c\u5bb3\u304c\u8efd\u6e1b\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u611f\u899a\u7d71\u5408\u7642\u6cd5\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u611f\u899a\u904e\u654f\u3084\u920d\u9ebb\u306b\u5bfe\u3057\u3001\u4f5c\u696d\u7642\u6cd5\u3092\u901a\u3058\u3066\u9069\u5207\u306a\u611f\u899a\u5165\u529b\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u533b\u5b66\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u3066\u3093\u304b\u3093\u6cbb\u7642\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8133\u6ce2\u691c\u67fb\u3092\u884c\u3044\u3001\u767a\u4f5c\u304c\u3042\u308b\u5834\u5408\u306f\u6297\u3066\u3093\u304b\u3093\u85ac\u3067\u6cbb\u7642\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u6d88\u5316\u5668\u75c7\u72b6\u306e\u7ba1\u7406\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u80c3\u98df\u9053\u9006\u6d41\u75c7\u3084\u4fbf\u79d8\u306b\u5bfe\u3057\u3001\u85ac\u7269\u7642\u6cd5\u3084\u98df\u4e8b\u6307\u5c0e\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u814e\u81d3\u30fb\u5c3f\u8def\u306e\u7ba1\u7406\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306a\u30a8\u30b3\u30fc\u691c\u67fb\u3092\u884c\u3044\u3001\u7570\u5e38\u304c\u3042\u308c\u3070\u6ccc\u5c3f\u5668\u79d1\u3067\u5bfe\u5fdc\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u884c\u52d5\u30fb\u7cbe\u795e\u9762\u306e\u30b1\u30a2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u74b0\u5883\u8abf\u6574\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u81ea\u9589\u50be\u5411\u3084\u3053\u3060\u308f\u308a\u306b\u5bfe\u3057\u3001\u898b\u901a\u3057\u306e\u7acb\u3064\u74b0\u5883\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u7cbe\u795e\u533b\u5b66\u7684\u4ecb\u5165\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u7761\u7720\u969c\u5bb3\u3084\u884c\u52d5\u969c\u5bb3\u3001\u9000\u884c\u75c7\u72b6\u304c\u5f37\u3044\u5834\u5408\u3001\u7cbe\u795e\u79d1\u533b\u306b\u3088\u308b\u85ac\u7269\u7642\u6cd5\uff08\u7761\u7720\u5c0e\u5165\u5264\u3084\u6297\u7cbe\u795e\u75c5\u85ac\u306a\u3069\uff09\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5b89\u5168\u7ba1\u7406\uff08\u75db\u307f\u3078\u306e\u920d\u611f\u3055\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u75db\u307f\u3092\u8a34\u3048\u306a\u3044\u305f\u3081\u3001\u539f\u56e0\u4e0d\u660e\u306e\u4e0d\u6a5f\u5acc\u3084\u767a\u71b1\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u9aa8\u6298\u3001\u866b\u6b6f\u3001\u4e2d\u8033\u708e\u3001\u5c3f\u8def\u611f\u67d3\u75c7\u3001\u76f2\u8178\u306a\u3069\u306e\u8eab\u4f53\u75be\u60a3\u304c\u96a0\u308c\u3066\u3044\u306a\u3044\u304b\u3001\u89aa\u3084\u533b\u5e2b\u304c\u80fd\u52d5\u7684\u306b\u30c1\u30a7\u30c3\u30af\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\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>\u6b21\u5b50\u306e\u598a\u5a20\u3092\u8003\u3048\u3066\u3044\u308b\u5834\u5408\u306a\u3069\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u691c\u67fb\u3092\u884c\u3046\u304b\u3069\u3046\u304b\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u304c\u6b63\u5e38\u3067\u3042\u308c\u3070\u518d\u767a\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3067\u3059\u304c\u3001\u89aa\u304c\u8ee2\u5ea7\u4fdd\u56e0\u8005\u306e\u5834\u5408\u306f\u30ea\u30b9\u30af\u304c\u9ad8\u304f\u306a\u308a\u307e\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>22q13 deletion syndrome\uff08\u30d5\u30a7\u30e9\u30f3\u30fb\u30de\u30af\u30c0\u30fc\u30df\u30c9\u75c7\u5019\u7fa4\uff09\u306f\u300122\u756a\u67d3\u8272\u4f53\u306e\u672b\u7aef\u306b\u3042\u308bSHANK3\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u8133\u306e\u795e\u7d4c\u540c\u58eb\u304c\u3064\u306a\u304c\u308b\u300c\u30b7\u30ca\u30d7\u30b9\u300d\u3092\u652f\u3048\u308b\u91cd\u8981\u306a\u5f79\u5272\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u304a\u5b50\u3055\u3093\u306f\u8a00\u8449\u3092\u8a71\u3059\u3053\u3068\u304c\u96e3\u3057\u304b\u3063\u305f\u308a\u3001\u7b4b\u8089\u306e\u5f35\u308a\u304c\u5f31\u304b\u3063\u305f\u308a\u3001\u75db\u307f\u3092\u611f\u3058\u306b\u304f\u304b\u3063\u305f\u308a\u3068\u3044\u3063\u305f\u7279\u5fb4\u3092\u6301\u3061\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u300c\u8a00\u8449\u304c\u51fa\u306a\u3044\u300d\u3068\u3044\u3046\u306e\u306f\u5927\u304d\u306a\u4e0d\u5b89\u8981\u7d20\u304b\u3068\u601d\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u3053\u306e\u75be\u60a3\u306e\u304a\u5b50\u3055\u3093\u306e\u591a\u304f\u306f\u3001\u8a00\u8449\u3067\u8a71\u305b\u306a\u304f\u3066\u3082\u3001\u3053\u3061\u3089\u306e\u8a00\u3063\u3066\u3044\u308b\u3053\u3068\u3092\u3088\u304f\u7406\u89e3\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u30bf\u30d6\u30ec\u30c3\u30c8\u3084\u7d75\u30ab\u30fc\u30c9\u3092\u4f7f\u3048\u3070\u3001\u8c4a\u304b\u306a\u611f\u60c5\u3084\u610f\u601d\u3092\u4f1d\u3048\u3066\u304f\u308c\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u75db\u307f\u3092\u611f\u3058\u306b\u304f\u3044\u305f\u3081\u3001\u602a\u6211\u3084\u75c5\u6c17\u306b\u6c17\u3065\u304d\u306b\u304f\u3044\u3068\u3044\u3046\u70b9\u306b\u306f\u6ce8\u610f\u304c\u5fc5\u8981\u3067\u3059\u304c\u3001\u88cf\u3092\u8fd4\u305b\u3070\u3001\u3044\u3064\u3082\u30cb\u30b3\u30cb\u30b3\u3068\u7a4f\u3084\u304b\u3067\u3001\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\u306e\u304a\u5b50\u3055\u3093\u304c\u591a\u3044\u306e\u3082\u3053\u306e\u75be\u60a3\u306e\u9b45\u529b\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u3001\u4e16\u754c\u4e2d\u3067\u6cbb\u7642\u85ac\u306e\u7814\u7a76\u304c\u9032\u3093\u3067\u3044\u308b\u5e0c\u671b\u306e\u3042\u308b\u5206\u91ce\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u3001\u7642\u6cd5\u58eb\u3001\u305d\u3057\u3066\u540c\u3058\u60a9\u307f\u3092\u6301\u3064\u5bb6\u65cf\u4f1a\u306a\u3069\u3068\u3064\u306a\u304c\u308a\u3001\u304a\u5b50\u3055\u3093\u306e\u30da\u30fc\u30b9\u306b\u5408\u308f\u305b\u305f\u6210\u9577\u3092\u6e29\u304b\u304f\u898b\u5b88\u3063\u3066\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>Phelan, K., &amp; McDermid, H.E.<\/strong> (2012). <em>The 22q13.3 deletion syndrome (Phelan-McDermid Syndrome).<\/em> Molecular Syndromology.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u75be\u60a3\u540d\u306e\u7531\u6765\u3068\u306a\u3063\u305fPhelan\u535a\u58eb\u3068McDermid\u535a\u58eb\u306b\u3088\u308b\u3001\u672c\u75c7\u5019\u7fa4\u306e\u6b74\u53f2\u3001\u81e8\u5e8a\u7684\u7279\u5fb4\u3001\u907a\u4f1d\u5b66\u7684\u80cc\u666f\u3092\u7db2\u7f85\u3057\u305f\u5305\u62ec\u7684\u306a\u30ec\u30d3\u30e5\u30fc\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Sarasua, S.M., et al.<\/strong> (2014). <em>Clinical and genomic evaluation of 201 patients with Phelan-McDermid syndrome.<\/em> Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b200\u540d\u4ee5\u4e0a\u306e\u60a3\u8005\u30c7\u30fc\u30bf\u3092\u89e3\u6790\u3057\u3001\u6b20\u5931\u30b5\u30a4\u30ba\u3068\u81e8\u5e8a\u75c7\u72b6\uff08\u8a00\u8a9e\u969c\u5bb3\u3001\u4f4e\u7dca\u5f35\u3001\u7570\u5f62\u6027\u306a\u3069\uff09\u306e\u76f8\u95a2\u3092\u8a73\u7d30\u306b\u8abf\u67fb\u3057\u305f\u5927\u898f\u6a21\u7814\u7a76\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Kolevzon, A., et al.<\/strong> (2014). <em>Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring.<\/em> Journal of Neurodevelopmental Disorders.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u81e8\u5e8a\u73fe\u5834\u306b\u304a\u3051\u308b\u8a3a\u65ad\u3001\u8a55\u4fa1\u3001\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\uff08\u814e\u81d3\u3001\u3066\u3093\u304b\u3093\u306a\u3069\uff09\u306e\u6307\u91dd\u3092\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30e9\u30a4\u30f3\u7684\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Durand, C.M., et al.<\/strong> (2007). <em>Mutations in the gene encoding the synaptic scaffolding protein SHANK3 are associated with autism spectrum disorders.<\/em> Nature Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203bSHANK3\u907a\u4f1d\u5b50\u306e\u5909\u7570\u304c\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u306e\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u3092\u521d\u3081\u3066\u7279\u5b9a\u3057\u300122q13\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u795e\u7d4c\u75c7\u72b6\u306e\u4e3b\u56e0\u304cSHANK3\u3067\u3042\u308b\u3053\u3068\u3092\u6c7a\u5b9a\u3065\u3051\u305f\u8a18\u5ff5\u7891\u7684\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>22q13 deletions (Phelan-McDermid syndrome)<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u75c7\u72b6\u3001\u751f\u6d3b\u4e0a\u306e\u6ce8\u610f\u70b9\uff08\u75db\u307f\u3078\u306e\u920d\u611f\u3055\u306a\u3069\uff09\u3001\u7642\u80b2\u30a2\u30c9\u30d0\u30a4\u30b9\u3092\u5e73\u6613\u306b\u307e\u3068\u3081\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Phelan-McDermid Syndrome<\/em>. Initial Posting: May 11, 2005; Last Update: January 24, 2019. <em>Authors: Kolevzon A, et al.<\/em>\n<ul class=\"wp-block-list\">\n<li>(\u203b\u8a3a\u65ad\u57fa\u6e96\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3001\u6700\u65b0\u306e\u6cbb\u7642\u7814\u7a76\uff08\u81e8\u5e8a\u8a66\u9a13\uff09\u60c5\u5831\u3092\u542b\u3080\u3001\u4fe1\u983c\u6027\u306e\u9ad8\u3044\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\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-16943","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\/16943","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\/16943\/revisions"}],"predecessor-version":[{"id":17608,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16943\/revisions\/17608"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16943"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}