{"id":16931,"date":"2026-01-21T02:37:04","date_gmt":"2026-01-21T02:37:04","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16931"},"modified":"2026-01-21T02:37:45","modified_gmt":"2026-01-21T02:37:45","slug":"22q11-2-deletion-syndrome-distal-d-e-f","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/22q11-2-deletion-syndrome-distal-d-e-f\/","title":{"rendered":"22q11.2 deletion syndrome (distal, D-E\/F)"},"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>22q11.2\u9060\u4f4d\u6b20\u5931\u75c7\u5019\u7fa4\uff0822q11.2 distal deletion syndrome\uff09<\/li>\n\n\n\n<li>22q11.2\u9060\u4f4d\u5fae\u7d30\u6b20\u5931\uff08Distal 22q11.2 microdeletion\uff09<\/li>\n\n\n\n<li>\u95a2\u9023\uff1a22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff0822q11.2 deletion syndrome \/ DiGeorge syndrome \/ VCFS\uff09\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75be\u60a3\u306f\u3001\u4e00\u822c\u7684\u306b\u77e5\u3089\u308c\u308b\u300c22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u8fd1\u4f4d\u6b20\u5931\uff09\u300d\u3068\u306f\u6b20\u5931\u7bc4\u56f2\u304c\u7570\u306a\u308b\u3001\u72ec\u7acb\u3057\u305f\u81e8\u5e8a\u5358\u4f4d\u3067\u3059\u3002\u6df7\u540c\u3092\u907f\u3051\u308b\u305f\u3081\u3001\u533b\u5b66\u7684\u306b\u306f\u300c\u9060\u4f4d\uff08Distal\uff09\u300d\u3068\u660e\u8a18\u3057\u3066\u533a\u5225\u3055\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\uff0911.2\u9818\u57df\uff08\u9060\u4f4d\u9818\u57df\uff1aLCR22-D\u304b\u3089LCR22-E\u3001\u307e\u305f\u306fLCR22-F\u307e\u3067\uff09<\/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\u306b\u3042\u308b\u300c11.2\u300d\u3068\u547c\u3070\u308c\u308b\u30d0\u30f3\u30c9\u9818\u57df\u306e\u4e2d\u3067\u3001**\u300c\u9060\u4f4d\uff08Distal\uff09\u300d**\u3068\u547c\u3070\u308c\u308b\u7279\u5b9a\u306e\u533a\u9593\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\u300cLCR\uff08Low Copy Repeats\uff09\u300d\u3011<\/p>\n\n\n\n<p>22q11.2\u9818\u57df\u306e\u69cb\u9020\u3092\u7406\u89e3\u3059\u308b\u3053\u3068\u304c\u3001\u3053\u306e\u75be\u60a3\u306e\u672c\u8cea\u3092\u77e5\u308b\u9375\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u306b\u306f\u3001DNA\u306e\u914d\u5217\u304c\u4e92\u3044\u306b\u3088\u304f\u4f3c\u305f\u300cLCR\uff08Low Copy Repeats\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u30d6\u30ed\u30c3\u30af\u304c\u3001A\u3001B\u3001C\u3001D\u3001E\u3001F&#8230;\u3068\u9806\u306b\u4e26\u3093\u3067\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5178\u578b\u7684\u306a22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u8fd1\u4f4d\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5927\u591a\u6570\uff08\u7d0490%\uff09\u306e\u60a3\u8005\u3055\u3093\u306f\u3001<strong>LCR-A\u304b\u3089LCR-D<\/strong>\uff08\u7d043Mb\uff09\u3001\u3042\u308b\u3044\u306f<strong>LCR-A\u304b\u3089LCR-B<\/strong>\uff08\u7d041.5Mb\uff09\u306e\u7bc4\u56f2\u304c\u6b20\u5931\u3057\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u304c\u3044\u308f\u3086\u308b\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u3084VCFS\u3068\u547c\u3070\u308c\u308b\u3082\u306e\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u672c\u75be\u60a3\uff08\u9060\u4f4d\uff09\uff1a<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5178\u578b\u7684\u306a\u6b20\u5931\u9818\u57df\u3088\u308a\u3082\u300c\u5916\u5074\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff09\u300d\u306b\u3042\u308b\u3001<strong>LCR-D\u304b\u3089LCR-E<\/strong>\u3001\u3042\u308b\u3044\u306f<strong>LCR-D\u304b\u3089LCR-F<\/strong>\u3068\u3044\u3063\u305f\u9818\u57df\u304c\u6b20\u5931\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u5834\u6240\u306f\u3001\u5178\u578b\u7684\u306a\u6b20\u5931\u9818\u57df\u3068\u306f\u91cd\u306a\u3089\u306a\u3044\uff08\u3042\u308b\u3044\u306f\u4e00\u90e8\u3057\u304b\u91cd\u306a\u3089\u306a\u3044\uff09\u305f\u3081\u3001\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u3082\u7570\u306a\u308a\u3001\u305d\u306e\u7d50\u679c\u3068\u3057\u3066\u73fe\u308c\u308b\u75c7\u72b6\u3082\u7570\u306a\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u3010\u542b\u307e\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>D-E\/F\u9818\u57df\u306b\u306f\u3001\u6570\u5341\u500b\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u7279\u306b\u4ee5\u4e0b\u306e\u907a\u4f1d\u5b50\u304c\u75c7\u72b6\u5f62\u6210\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>MAPK1 (Mitogen-Activated Protein Kinase 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li><strong>\u6700\u91cd\u8981\u306e\u8cac\u4efb\u907a\u4f1d\u5b50\u5019\u88dc<\/strong>\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u7d30\u80de\u306e\u5897\u6b96\u3084\u5206\u5316\u3001\u751f\u5b58\u306b\u95a2\u308f\u308b\u30b7\u30b0\u30ca\u30eb\u4f1d\u9054\uff08ERK\/MAPK\u7d4c\u8def\uff09\u306e\u4e2d\u5fc3\u7684\u306a\u5f79\u5272\u3092\u62c5\u3063\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u306e\u907a\u4f1d\u5b50\u306e\u6b20\u5931\u306f\u3001<strong>\u300c\u80ce\u76e4\u306e\u5f62\u6210\u4e0d\u5168\uff08\u65e9\u7523\u30fb\u4f4e\u51fa\u751f\u4f53\u91cd\u306e\u539f\u56e0\uff09\u300d<\/strong>\u3001<strong>\u300c\u5c0f\u982d\u75c7\u300d<\/strong>\u3001<strong>\u300c\u5fc3\u75be\u60a3\u300d<\/strong>\u3001**\u300c\u795e\u7d4c\u767a\u9054\u300d**\u306b\u6df1\u304f\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3001\u30de\u30a6\u30b9\u30e2\u30c7\u30eb\u306a\u3069\u306e\u7814\u7a76\u3067\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>YPEL1 (Yippee Like 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u9854\u9762\u306e\u5f62\u6210\u306a\u3069\u306b\u95a2\u308f\u308b\u3068\u3055\u308c\u308b\u907a\u4f1d\u5b50\u3067\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u306e\u4e00\u90e8\u306b\u95a2\u9023\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\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>\u7a00\uff08Rare\uff09<\/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>\u5178\u578b\u7684\u306a22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u8fd1\u4f4d\uff09\u304c\u7d043,000\u301c6,000\u4eba\u306b1\u4eba\u3068\u6bd4\u8f03\u7684\u983b\u5ea6\u304c\u9ad8\u3044\u306e\u306b\u5bfe\u3057\u3001\u9060\u4f4d\u6b20\u5931\uff08Distal\uff09\u306e\u5831\u544a\u6570\u306f\u305d\u308c\u3088\u308a\u3082\u306f\u308b\u304b\u306b\u5c11\u306a\u3044\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3057\u304b\u3057\u3001\u3053\u308c\u306f\u5b9f\u969b\u306e\u767a\u751f\u6570\u304c\u5c11\u306a\u3044\u3060\u3051\u3067\u306a\u304f\u3001\u4ee5\u4e0b\u306e\u7406\u7531\u306b\u3088\u308b**\u300c\u904e\u5c11\u8a3a\u65ad\uff08Underdiagnosis\uff09\u300d**\u306e\u5f71\u97ff\u304c\u5927\u304d\u3044\u3068\u8003\u3048\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li><strong>\u75c7\u72b6\u306e\u7279\u7570\u6027\u304c\u4f4e\u3044:<\/strong> \u5178\u578b\u7684\u306a\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306e\u3088\u3046\u306a\u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u3084\u514d\u75ab\u4e0d\u5168\u3092\u4f34\u308f\u306a\u3044\u30b1\u30fc\u30b9\u304c\u591a\u304f\u3001\u5358\u306a\u308b\u300c\u672a\u719f\u5150\u3067\u751f\u307e\u308c\u305f\u5b50\u300d\u300c\u5c11\u3057\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u306a\u5b50\u300d\u3068\u3057\u3066\u898b\u904e\u3054\u3055\u308c\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u691c\u67fb\u306e\u666e\u53ca:<\/strong> \u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09\u304c\u884c\u308f\u308c\u306a\u3044\u3068\u8a3a\u65ad\u3067\u304d\u306a\u3044\u5fae\u7d30\u306a\u6b20\u5931\u3067\u3042\u308b\u305f\u3081\u3001\u8fd1\u5e74\u306e\u691c\u67fb\u6280\u8853\u306e\u666e\u53ca\u306b\u4f34\u3044\u3001\u3088\u3046\u3084\u304f\u767a\u898b\u3055\u308c\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u65b0\u3057\u3044\u75be\u60a3\u30ab\u30c6\u30b4\u30ea\u30fc\u3067\u3059\u3002<\/li>\n<\/ol>\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>22q11.2 deletion syndrome (distal) \u306e\u75c7\u72b6\u306f\u3001\u5178\u578b\u7684\u306a22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u8fd1\u4f4d\uff09\u3068\u4e00\u90e8\u5171\u901a\u3057\u307e\u3059\u304c\u3001**\u300c\u5468\u7523\u671f\u306e\u554f\u984c\uff08\u65e9\u7523\uff09\u300d**\u306a\u3069\u3001\u3053\u306e\u30bf\u30a4\u30d7\u7279\u6709\u306e\u50be\u5411\u3082\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u304d\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u4e0d\u5b8c\u5168\u6d78\u900f\uff08\u75c7\u72b6\u304c\u51fa\u306a\u3044\u3053\u3068\u3082\u3042\u308b\uff09\u300d\u3084\u300c\u53ef\u5909\u8868\u73fe\u6027\uff08\u75c7\u72b6\u306e\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\uff09\u300d\u304c\u898b\u3089\u308c\u308b\u306e\u3082\u7279\u5fb4\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u5468\u7523\u671f\u30fb\u6210\u9577\u306e\u554f\u984c\uff08Perinatal &amp; Growth\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75be\u60a3\u306b\u304a\u3044\u3066\u6700\u3082\u7279\u5fb4\u7684\u304b\u3064\u983b\u5ea6\u306e\u9ad8\u3044\u75c7\u72b6\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u7523\uff08Prematurity\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e88\u5b9a\u65e5\u3088\u308a\u3082\u65e9\u304f\u751f\u307e\u308c\u308b\u3053\u3068\u304c\u591a\u304f\u3001<strong>\u65e9\u7523\u5150<\/strong>\u3068\u3057\u3066NICU\uff08\u65b0\u751f\u5150\u96c6\u4e2d\u6cbb\u7642\u5ba4\uff09\u3067\u306e\u7ba1\u7406\u304c\u5fc5\u8981\u306b\u306a\u308b\u30b1\u30fc\u30b9\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5b50\u5bae\u5185\u767a\u80b2\u9045\u5ef6\uff08IUGR\uff09 \/ \u4f4e\u51fa\u751f\u4f53\u91cd:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5728\u80ce\u9031\u6570\u306b\u6bd4\u3079\u3066\u4f53\u304c\u5c0f\u3055\u304f\u751f\u307e\u308c\u308b\uff08SGA\u5150\uff09\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u3053\u308c\u306f\u3001<em>MAPK1<\/em>\u907a\u4f1d\u5b50\u306e\u4e0d\u8db3\u306b\u3088\u308a\u3001\u80ce\u76e4\u304c\u5341\u5206\u306b\u80b2\u305f\u306a\u3044\u3053\u3068\u304c\u539f\u56e0\u306e\u4e00\u3064\u3068\u63a8\u6e2c\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u51fa\u751f\u5f8c\u306e\u6210\u9577:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u51fa\u751f\u5f8c\u3082\u8eab\u9577\u3084\u4f53\u91cd\u306e\u4f38\u3073\u304c\u7de9\u3084\u304b\u3067\u3001\u5c0f\u67c4\uff08\u4f4e\u8eab\u9577\u30fb\u4f4e\u4f53\u91cd\uff09\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u3044\u3067\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<p>\u307b\u307c\u5168\u4f8b\u3067\u3001\u8efd\u5ea6\u304b\u3089\u4e2d\u7b49\u5ea6\u306e\u767a\u9054\u3078\u306e\u5f71\u97ff\u304c\u8a8d\u3081\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u6ede\uff08DD\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8449\u304c\u51fa\u59cb\u3081\u308b\u306e\u304c\u9045\u3044\u3001\u904b\u52d5\u767a\u9054\uff08\u6b69\u884c\u306a\u3069\uff09\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3001\u3068\u3044\u3063\u305f\u7279\u5fb4\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u7279\u306b**\u300c\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u300d**\u306f\u9855\u8457\u3067\u3001\u767a\u97f3\u304c\u4e0d\u660e\u77ad\u3067\u3042\u3063\u305f\u308a\u3001\u6587\u7ae0\u3067\u8a71\u3059\u306e\u304c\u82e6\u624b\u3060\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u77e5\u7684\u969c\u5bb3\uff08ID\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u591a\u304f\u306e\u60a3\u8005\u3055\u3093\u306f\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3001\u3042\u308b\u3044\u306f\u5883\u754c\u57df\u77e5\u80fd\uff08Borderline intellectual functioning\uff09\u3092\u793a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5b66\u7fd2\u969c\u5bb3\uff08LD\uff09\u3092\u4f34\u3046\u3053\u3068\u3082\u3042\u308a\u3001\u5b66\u6821\u751f\u6d3b\u3067\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u884c\u52d5\u7279\u6027:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u5b89\u306e\u5f37\u3055\u3001\u6ce8\u610f\u6b20\u9665\u30fb\u591a\u52d5\u6027\u969c\u5bb3\uff08ADHD\uff09\u3001\u81ea\u9589\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u75c7\uff08ASD\uff09\u69d8\u306e\u7279\u5fb4\u3001\u6c17\u5206\u306e\u5909\u52d5\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Craniofacial features\uff09<\/strong><\/p>\n\n\n\n<p>\u5178\u578b\u7684\u306a22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u8fd1\u4f4d\uff09\u3068\u4f3c\u3066\u3044\u308b\u90e8\u5206\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u3088\u308a\u8efd\u5fae\u3067\u3042\u3063\u305f\u308a\u3001\u5c11\u3057\u7570\u306a\u308b\u7279\u5fb4\u3092\u6301\u3063\u3066\u3044\u305f\u308a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8033\u306e\u7570\u5e38\uff08\u8033\u4ecb\u306e\u5909\u5f62\u3001\u526f\u8033\u3001\u8033\u524d\u763b\u5b54\u306a\u3069\uff09\u3002<\/li>\n\n\n\n<li>\u9f3b\u306e\u7279\u5fb4\uff08\u9f3b\u6839\u90e8\u304c\u5e73\u5766\u3001\u9f3b\u5148\u304c\u6ed1\u3089\u304b\uff09\u3002<\/li>\n\n\n\n<li>\u5c0f\u3055\u306a\u53e3\u3001\u8584\u3044\u4e0a\u5507\u3002<\/li>\n\n\n\n<li>\u6df1\u3044\u773c\u7aa9\uff08\u76ee\u304c\u5965\u307e\u3063\u3066\u3044\u308b\uff09\u3001\u30a2\u30fc\u30c1\u72b6\u306e\u7709\u6bdb\u3002<\/li>\n\n\n\n<li>\u5c0f\u982d\u75c7\uff08\u982d\u304c\u5c0f\u3055\u3044\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u5148\u5929\u6027\u5fc3\u75be\u60a3\uff08Cardiac defects\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5178\u578b\u7684\u306a22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u8fd1\u4f4d\uff09\u3067\u306f\u7d0480%\u306b\u5fc3\u75be\u60a3\u304c\u898b\u3089\u308c\u307e\u3059\u304c\u3001\u9060\u4f4d\u6b20\u5931\uff08D-E\/F\uff09\u3067\u306f\u305d\u306e\u983b\u5ea6\u306f**\u4f4e\u3044\uff08\u7d0420\u301c40%\u7a0b\u5ea6\uff09**\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u898b\u3089\u308c\u308b\u5fc3\u75be\u60a3\u306e\u30bf\u30a4\u30d7\u3068\u3057\u3066\u306f\u3001<strong>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\u75c7\uff08VSD\uff09<\/strong>\u3001<strong>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\u75c7\uff08ASD\uff09<\/strong>\u3001\u80ba\u52d5\u8108\u5f01\u72ed\u7a84\u75c7\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30d5\u30a1\u30ed\u30fc\u56db\u5fb4\u75c7\u3084\u7dcf\u52d5\u8108\u5e79\u75c7\u3068\u3044\u3063\u305f\u91cd\u7be4\u306a\u300c\u5186\u9310\u52d5\u8108\u5e79\u7570\u5e38\u300d\u306f\u3001\u8fd1\u4f4d\u6b20\u5931\u306b\u6bd4\u3079\u308b\u3068\u5c11\u306a\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u304c\u3001\u5408\u4f75\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>5. \u305d\u306e\u4ed6\u306e\u5408\u4f75\u75c7<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9aa8\u683c:<\/strong> \u624b\u8db3\u306e\u6307\u306e\u7570\u5e38\uff08\u591a\u6307\u75c7\u306a\u3069\uff09\u3001\u810a\u690e\u306e\u7570\u5e38\u3002<\/li>\n\n\n\n<li><strong>\u814e\u30fb\u6ccc\u5c3f\u5668:<\/strong> \u814e\u5947\u5f62\u3001\u6c34\u814e\u75c7\u306a\u3069\u3002<\/li>\n\n\n\n<li><strong>\u53e3\u84cb\u88c2:<\/strong> \u7c98\u819c\u4e0b\u53e3\u84cb\u88c2\u3084\u53e3\u84cb\u54bd\u982d\u6a5f\u80fd\u4e0d\u5168\uff08\u9f3b\u58f0\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u8fd1\u4f4d\u6b20\u5931\u307b\u3069\u9ad8\u983b\u5ea6\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/li>\n\n\n\n<li><strong>\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u30fb\u514d\u75ab\u4e0d\u5168:<\/strong> \u8fd1\u4f4d\u6b20\u5931\u306e\u4e3b\u8981\u306a\u7279\u5fb4\uff08TBX1\u907a\u4f1d\u5b50\u95a2\u9023\uff09\u3067\u3059\u304c\u3001\u9060\u4f4d\u6b20\u5931\u3067\u306f\u901a\u5e38<em>TBX1<\/em>\u907a\u4f1d\u5b50\u304c\u6b8b\u5b58\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u3053\u308c\u3089\u306e\u75c7\u72b6\u306f<strong>\u7a00<\/strong>\u3067\u3042\u308b\u304b\u3001\u898b\u3089\u308c\u306a\u3044\u3053\u3068\u304c\u591a\u3044\u3067\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\u9060\u4f4d\uff0822q11.2 D-E \u307e\u305f\u306f D-F\u9818\u57df\uff09\u306b\u304a\u3051\u308b\u5fae\u7d30\u6b20\u5931<\/strong>\u304c\u539f\u56e0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u751f\u6a5f\u5e8f\uff1aNAHR\uff08\u975e\u30a2\u30ea\u30eb\u9593\u540c\u6e90\u7d44\u63db\u3048\uff09<\/strong><\/p>\n\n\n\n<p>\u306a\u305c\u300c\u8fd1\u4f4d\u300d\u3084\u300c\u9060\u4f4d\u300d\u3068\u3044\u3063\u305f\u6c7a\u307e\u3063\u305f\u5834\u6240\u304c\u6b20\u5931\u3059\u308b\u306e\u3067\u3057\u3087\u3046\u304b\uff1f<\/p>\n\n\n\n<p>22q11.2\u9818\u57df\u306b\u306f\u3001DNA\u914d\u5217\u304c\u4e92\u3044\u306b\u3088\u304f\u4f3c\u305f\u300cLCR\uff08Low Copy Repeats\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u30d6\u30ed\u30c3\u30af\uff08LCR22-A, B, C, D, E, F&#8230;\uff09\u304c\u5b58\u5728\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u6e1b\u6570\u5206\u88c2\u306e\u969b\u3001\u3053\u306eLCR\u540c\u58eb\u304c\u300c\u4f3c\u3066\u3044\u308b\u305f\u3081\u306b\u5834\u6240\u3092\u9593\u9055\u3048\u3066\u304f\u3063\u3064\u3044\u3066\u3057\u307e\u3046\uff08\u30df\u30b9\u30de\u30c3\u30c1\uff09\u300d\u3053\u3068\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u69cb\u9020\u306b\u306a\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8fd1\u4f4d\u6b20\u5931:<\/strong> LCR-A\u3068LCR-D\u306e\u9593\u3067\u30df\u30b9\u30de\u30c3\u30c1\u304c\u8d77\u304d\u308b\u3068\u3001\u5178\u578b\u7684\u306a\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u9060\u4f4d\u6b20\u5931\uff08\u672c\u75be\u60a3\uff09:<\/strong> <strong>LCR-D\u3068LCR-E<\/strong>\u3001\u3042\u308b\u3044\u306f<strong>LCR-D\u3068LCR-F<\/strong>\u306e\u9593\u3067\u30df\u30b9\u30de\u30c3\u30c1\u304c\u8d77\u304d\u308b\u3068\u3001\u3053\u306e\u9818\u57df\u304c\u629c\u3051\u843d\u3061\u3066\u3057\u307e\u3044\u3001\u672c\u75be\u60a3\u304c\u767a\u751f\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u907a\u4f1d\u5b50\u578b\u3068\u8868\u73fe\u578b<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>MAPK1\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168:<\/strong>\n<ul class=\"wp-block-list\">\n<li><em>MAPK1<\/em>\u907a\u4f1d\u5b50\u306f\u80ce\u76e4\u306e\u6b63\u5e38\u306a\u6a5f\u80fd\u3084\u3001\u80ce\u5150\u306e\u6210\u9577\u3001\u795e\u7d4c\u7cfb\u306e\u767a\u9054\u306b\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u304c\u534a\u5206\u306b\u306a\u308b\u3053\u3068\u3067\u3001\u65e9\u7523\u3084\u4f4e\u51fa\u751f\u4f53\u91cd\u3001\u5c0f\u982d\u75c7\u3001\u767a\u9054\u9045\u6ede\u306a\u3069\u306e\u30ea\u30b9\u30af\u304c\u9ad8\u307e\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>TBX1\u907a\u4f1d\u5b50\u306e\u6b8b\u5b58:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5178\u578b\u7684\u306a\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u306e\u91cd\u7be4\u306a\u75c7\u72b6\uff08\u80f8\u817a\u6b20\u640d\u3001\u91cd\u5ea6\u5fc3\u75be\u60a3\u3001\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\uff09\u306e\u539f\u56e0\u3067\u3042\u308b<em>TBX1<\/em>\u907a\u4f1d\u5b50\u306f\u3001LCR-A\u301cB\u306e\u9593\u306b\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u672c\u75be\u60a3\uff08\u9060\u4f4d\u6b20\u5931\uff09\u3067\u306f<em>TBX1<\/em>\u907a\u4f1d\u5b50\u306f\u901a\u5e38\u7121\u50b7\u3067\u6b8b\u3063\u3066\u3044\u308b\u305f\u3081\u3001\u514d\u75ab\u4e0d\u5168\u3084\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u304c\u8d77\u3053\u308a\u306b\u304f\u3044\u3068\u3044\u3046\u81e8\u5e8a\u7684\u306a\u9055\u3044\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u907a\u4f1d\u5f62\u5f0f<\/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>\u591a\u304f\u306e\u75c7\u4f8b\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<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5bb6\u65cf\u6027\uff08\u907a\u4f1d\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u89aa\u304c\u540c\u3058\u6b20\u5931\u3092\u6301\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u89aa\u306f\u975e\u5e38\u306b\u8efd\u75c7\uff08\u5b66\u7fd2\u969c\u5bb3\u306e\u307f\u3001\u3042\u308b\u3044\u306f\u4f4e\u8eab\u9577\u306e\u307f\u306a\u3069\uff09\u3067\u8a3a\u65ad\u3055\u308c\u3066\u3044\u306a\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u5b50\u304c\u8a3a\u65ad\u3055\u308c\u3066\u521d\u3081\u3066\u89aa\u3082\u691c\u67fb\u3092\u53d7\u3051\u3001\u5224\u660e\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u5b50\u3078\u907a\u4f1d\u3059\u308b\u78ba\u7387\u306f50%\u3067\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\u65e9\u7523\u30fb\u4f4e\u51fa\u751f\u4f53\u91cd\u300d\u306e\u65e2\u5f80\u304c\u3042\u308a\u3001\u300c\u767a\u9054\u9045\u6ede\u300d\u3084\u300c\u8efd\u5ea6\u306e\u7279\u5fb4\u7684\u9854\u8c8c\u300d\u304c\u3042\u308b\u5834\u5408\u306b\u7591\u308f\u308c\u307e\u3059\u304c\u3001\u75c7\u72b6\u304c\u975e\u7279\u7570\u7684\u3067\u3042\u308b\u305f\u3081\u3001\u81e8\u5e8a\u75c7\u72b6\u3060\u3051\u3067\u8a3a\u65ad\u3059\u308b\u3053\u3068\u306f\u56f0\u96e3\u3067\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>\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>22q11.2\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u5909\u5316\u3092\u7db2\u7f85\u7684\u306b\u8abf\u3079\u3001\u6b20\u5931\u304c\u300c\u8fd1\u4f4d\uff08\u5178\u578b\uff09\u300d\u306a\u306e\u304b\u300c\u9060\u4f4d\uff08\u672c\u75be\u60a3\uff09\u300d\u306a\u306e\u304b\u3092\u6b63\u78ba\u306b\u533a\u5225\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f93\u6765\u306eFISH\u6cd5\uff08\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u7528\u306e\u691c\u67fb\uff09\u3067\u306f\u3001\u901a\u5e38LCR-A\u301cB\u9818\u57df\uff08<em>TBX1<\/em>\u306a\u3069\uff09\u3092\u30bf\u30fc\u30b2\u30c3\u30c8\u306b\u3057\u3066\u3044\u308b\u305f\u3081\u3001\u9060\u4f4d\u6b20\u5931\u306f\u898b\u9003\u3055\u308c\u308b\uff08\u6b63\u5e38\u3068\u5224\u5b9a\u3055\u308c\u308b\uff09\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002CMA\u304c\u5fc5\u9808\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u4e21\u89aa\u306e\u691c\u67fb:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u304c\u3064\u3044\u305f\u5f8c\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u7d4c\u3066\u3001\u4e21\u89aa\u306e\u691c\u67fb\u3092\u884c\u3046\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u5bb6\u65cf\u6027\u304b\u7a81\u7136\u5909\u7570\u304b\u3092\u77e5\u308b\u3053\u3068\u306f\u3001\u6b21\u5b50\u306e\u30ea\u30b9\u30af\u8a55\u4fa1\u306b\u91cd\u8981\u3067\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\u305d\u308c\u305e\u308c\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u6210\u9577\u30fb\u767a\u9054\u3092\u652f\u3048\u308b\u305f\u3081\u306e\u5305\u62ec\u7684\u306a\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u65b0\u751f\u5150\u671f\u30fb\u4e73\u5150\u671f\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u7523\u30fb\u4f4e\u51fa\u751f\u4f53\u91cd\u5150\u30b1\u30a2:<\/strong>\n<ul class=\"wp-block-list\">\n<li>NICU\u3067\u306e\u547c\u5438\u30fb\u5faa\u74b0\u7ba1\u7406\u3084\u6804\u990a\u7ba1\u7406\u304c\u884c\u308f\u308c\u307e\u3059\u3002\u9000\u9662\u5f8c\u3082\u767a\u80b2\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u5fc5\u8981\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u5fc3\u75be\u60a3\u306e\u7ba1\u7406:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u30a8\u30b3\u30fc\u691c\u67fb\u3067\u5fc3\u75be\u60a3\u306e\u6709\u7121\u3092\u78ba\u8a8d\u3057\u3001\u5fc5\u8981\u3067\u3042\u308c\u3070\u624b\u8853\u3084\u5185\u670d\u6cbb\u7642\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \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:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u306e\u9045\u308c\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\u958b\u59cb\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u8074\u899a\u7642\u6cd5\uff08ST\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u8a00\u8a9e\u767a\u9054\u9045\u6ede\u304c\u9855\u8457\u306a\u5834\u5408\u304c\u591a\u3044\u305f\u3081\u3001\u8a00\u8449\u306e\u7406\u89e3\u3092\u4fc3\u3057\u3001\u767a\u8a9e\u3092\u30b5\u30dd\u30fc\u30c8\u3059\u308b\u8a13\u7df4\u304c\u91cd\u8981\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>\u5b66\u7fd2\u969c\u5bb3\u3084\u77e5\u7684\u969c\u5bb3\u306e\u7a0b\u5ea6\u306b\u5408\u308f\u305b\u3001\u500b\u5225\u306e\u6559\u80b2\u652f\u63f4\u8a08\u753b\uff08IEP\uff09\u3092\u4f5c\u6210\u3057\u3001\u901a\u7d1a\u6307\u5c0e\u6559\u5ba4\u3084\u7279\u5225\u652f\u63f4\u5b66\u7d1a\u306a\u3069\u306e\u74b0\u5883\u8abf\u6574\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7cbe\u795e\u30fb\u5fc3\u7406\u7684\u30b5\u30dd\u30fc\u30c8<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u4e0d\u5b89\u969c\u5bb3\u3084\u6ce8\u610f\u306e\u554f\u984c\u306a\u3069\u306b\u5bfe\u3057\u3001\u5fc3\u7406\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u3084\u74b0\u5883\u8abf\u6574\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5178\u578b\u7684\u306a22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u77e5\u3089\u308c\u308b\u300c\u7d71\u5408\u5931\u8abf\u75c7\u30ea\u30b9\u30af\u300d\u306b\u3064\u3044\u3066\u3001\u9060\u4f4d\u6b20\u5931\u3067\u306e\u30ea\u30b9\u30af\u306f\u307e\u3060\u660e\u78ba\u306b\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u304c\u3001\u601d\u6625\u671f\u4ee5\u964d\u306e\u30e1\u30f3\u30bf\u30eb\u30d8\u30eb\u30b9\u306b\u306f\u6ce8\u610f\u3092\u6255\u3044\u3001\u56f0\u308a\u3054\u3068\u304c\u3042\u308c\u3070\u65e9\u671f\u306b\u5c02\u9580\u533b\u306b\u76f8\u8ac7\u3067\u304d\u308b\u4f53\u5236\u3092\u4f5c\u3063\u3066\u304a\u304f\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \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\u300c22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u300d\u3068\u3044\u3046\u5927\u304d\u306a\u67a0\u7d44\u307f\u306e\u4e2d\u3067\u8a9e\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u60c5\u5831\u306e\u6df7\u540c\u304c\u8d77\u304d\u3084\u3059\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u300c\u514d\u75ab\u4e0d\u5168\u3084\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u306e\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u300d\u3068\u3044\u3063\u305f\u3001\u8fd1\u4f4d\u6b20\u5931\u3068\u306e\u9055\u3044\u3092\u6b63\u3057\u304f\u7406\u89e3\u3057\u3001\u904e\u5ea6\u306a\u4e0d\u5b89\u3092\u53d6\u308a\u9664\u304f\u305f\u3081\u306b\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u6709\u52b9\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>22q11.2 deletion syndrome (distal, D-E\/F) \u306f\u3001\u6709\u540d\u306a\u300c\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\uff08\u8fd1\u4f4d\u6b20\u5931\uff09\u300d\u3068\u306f\u5144\u5f1f\u306e\u3088\u3046\u306a\u95a2\u4fc2\u306b\u3042\u308b\u3082\u306e\u306e\u3001\u5c11\u3057\u7570\u306a\u308b\u7279\u5fb4\u3092\u6301\u3064\u5e0c\u5c11\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e88\u5b9a\u65e5\u3088\u308a\u65e9\u304f\u5c0f\u3055\u304f\u751f\u307e\u308c\u305f\u308a\uff08\u65e9\u7523\u30fb\u4f4e\u51fa\u751f\u4f53\u91cd\uff09\u3001\u8a00\u8449\u3084\u904b\u52d5\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3060\u3063\u305f\u308a\u3059\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u3067\u898b\u3089\u308c\u308b\u3088\u3046\u306a\u91cd\u3044\u514d\u75ab\u4e0d\u5168\u3084\u4f4e\u30ab\u30eb\u30b7\u30a6\u30e0\u8840\u75c7\u3068\u3044\u3063\u305f\u5408\u4f75\u75c7\u306f\u5c11\u306a\u3044\u50be\u5411\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u540d\u306b\u300c22q11.2\u6b20\u5931\u300d\u3068\u3064\u3044\u3066\u3044\u308b\u305f\u3081\u3001\u30a4\u30f3\u30bf\u30fc\u30cd\u30c3\u30c8\u3067\u691c\u7d22\u3059\u308b\u3068\u91cd\u7be4\u306a\u5fc3\u81d3\u75c5\u3084\u514d\u75ab\u306e\u75c5\u6c17\u3070\u304b\u308a\u304c\u51fa\u3066\u304d\u3066\u9a5a\u304b\u308c\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u304c\u3001\u3053\u306e\u300c\u9060\u4f4d\u578b\u300d\u306f\u307e\u305f\u5225\u306e\u898b\u901a\u3057\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u3001\u5c0f\u3055\u304f\u751f\u307e\u308c\u305f\u8d64\u3061\u3083\u3093\u306e\u6210\u9577\u306f\u5fc3\u914d\u304c\u5c3d\u304d\u306a\u3044\u3082\u306e\u3067\u3059\u304c\u3001\u533b\u7642\u7684\u306a\u30b1\u30a2\u304c\u5fc5\u8981\u306a\u6642\u671f\u3092\u4e57\u308a\u8d8a\u3048\u308c\u3070\u3001\u305d\u306e\u5b50\u306a\u308a\u306e\u30da\u30fc\u30b9\u3067\u7740\u5b9f\u306b\u6210\u9577\u3057\u3066\u3044\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a00\u8449\u306e\u9045\u308c\u3084\u5b66\u7fd2\u306e\u82e6\u624b\u3055\u306b\u5bfe\u3057\u3066\u306f\u3001\u7642\u80b2\u3084\u6559\u80b2\u7684\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u5927\u304d\u306a\u529b\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u533b\u5e2b\u3084\u5c02\u9580\u5bb6\u3068\u9023\u643a\u3057\u3001\u6b63\u3057\u3044\u60c5\u5831\u3092\u57fa\u306b\u3001\u304a\u5b50\u3055\u3093\u306e\u500b\u6027\u3068\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>Mikhail, F.M., et al.<\/strong> (2014). <em>Clinical and molecular characterization of 22q11.2 distal deletions.<\/em> American Journal of Medical Genetics Part A.\n<ul class=\"wp-block-list\">\n<li>(\u203b22q11.2\u9060\u4f4d\u6b20\u5931\u3092\u6301\u3064\u60a3\u8005\u306e\u8a73\u7d30\u306a\u81e8\u5e8a\u50cf\uff08\u65e9\u7523\u3001\u4f4e\u51fa\u751f\u4f53\u91cd\u3001\u9854\u8c8c\u3001\u5fc3\u75be\u60a3\u306a\u3069\uff09\u3092\u3001\u6b20\u5931\u30bf\u30a4\u30d7\u5225\uff08Type I, II, III\u306a\u3069\uff09\u306b\u5206\u985e\u30fb\u89e3\u6790\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Ben-Shachar, S., et al.<\/strong> (2008). <em>22q11.2 distal deletion: a recurrent genomic disorder distinct from DiGeorge syndrome and velocardiofacial syndrome.<\/em> American Journal of Human Genetics.\n<ul class=\"wp-block-list\">\n<li>(\u203b\u672c\u75be\u60a3\u304c\u5178\u578b\u7684\u306a\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4\u3068\u306f\u7570\u306a\u308b\u72ec\u7acb\u3057\u305f\u75be\u60a3\u5358\u4f4d\u3067\u3042\u308b\u3053\u3068\u3092\u521d\u3081\u3066\u660e\u78ba\u306b\u63d0\u5531\u3057\u3001\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u65e9\u7523\u3084\u767a\u80b2\u9045\u5ef6\u306a\u3069\uff09\u3092\u5b9a\u7fa9\u3057\u305f\u8a18\u5ff5\u7891\u7684\u306a\u8ad6\u6587\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Newbern, J., et al.<\/strong> (2008). <em>Mouse and human phenotypes indicate a critical conserved role for ERK2 signaling in neural crest development.<\/em> Proceedings of the National Academy of Sciences.\n<ul class=\"wp-block-list\">\n<li>(\u203bMAPK1(ERK2)\u907a\u4f1d\u5b50\u304c\u795e\u7d4c\u5824\u7d30\u80de\u306e\u767a\u9054\u306b\u4e0d\u53ef\u6b20\u3067\u3042\u308a\u300122q11.2\u9060\u4f4d\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u4e3b\u8981\u306a\u75c7\u72b6\uff08\u9854\u8c8c\u3001\u5fc3\u75be\u60a3\u3001\u795e\u7d4c\u767a\u9054\uff09\u306e\u539f\u56e0\u907a\u4f1d\u5b50\u3067\u3042\u308b\u3053\u3068\u3092\u57fa\u790e\u7814\u7a76\u304b\u3089\u793a\u3057\u305f\u6587\u732e\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (Rare Chromosome Disorder Support Group)<\/strong>: <em>22q11.2 distal deletions<\/em> (2018).\n<ul class=\"wp-block-list\">\n<li>(\u203b\u60a3\u8005\u5bb6\u65cf\u5411\u3051\u306b\u3001\u8fd1\u4f4d\u6b20\u5931\u3068\u306e\u9055\u3044\u3001\u9060\u4f4d\u6b20\u5931\u7279\u6709\u306e\u75c7\u72b6\uff08\u65e9\u7523\u30ea\u30b9\u30af\u306a\u3069\uff09\u3001\u751f\u6d3b\u4e0a\u306e\u30a2\u30c9\u30d0\u30a4\u30b9\u3092\u5e73\u6613\u306b\u89e3\u8aac\u3057\u305f\u30ac\u30a4\u30c9\u30d6\u30c3\u30af\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>22q11.2 Deletion Syndrome<\/em>. (Mention of distal deletions).\n<ul class=\"wp-block-list\">\n<li>(\u203b22q11.2\u6b20\u5931\u75c7\u5019\u7fa4\u306e\u5305\u62ec\u7684\u30ec\u30d3\u30e5\u30fc\u306e\u4e2d\u3067\u3001\u9060\u4f4d\u6b20\u5931\u306b\u3064\u3044\u3066\u306e\u9451\u5225\u3084\u7279\u5fb4\u306b\u3064\u3044\u3066\u3082\u89e6\u308c\u3089\u308c\u3066\u3044\u308b\u3002)<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>ClinGen Dosage Sensitivity Curation<\/strong>: <em>MAPK1<\/em>.\n<ul class=\"wp-block-list\">\n<li>(\u203bMAPK1\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u75be\u60a3\u3092\u5f15\u304d\u8d77\u3053\u3059\u3053\u3068\u306e\u79d1\u5b66\u7684\u6839\u62e0\u8a55\u4fa1\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-16931","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\/16931","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":2,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16931\/revisions"}],"predecessor-version":[{"id":16933,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16931\/revisions\/16933"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16931"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}