{"id":17473,"date":"2026-01-22T05:43:29","date_gmt":"2026-01-22T05:43:29","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17473"},"modified":"2026-01-22T05:43:29","modified_gmt":"2026-01-22T05:43:29","slug":"tetrasomy-18p-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/tetrasomy-18p-syndrome\/","title":{"rendered":"Tetrasomy 18p syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>18p\u30c6\u30c8\u30e9\u30bd\u30df\u30fc<\/strong><\/li>\n\n\n\n<li><strong>\u7b49\u8155\u67d3\u8272\u4f5318p\u75c7\u5019\u7fa4\uff08Isochromosome 18p syndrome \/ i(18p) syndrome\uff09<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u203b\u672c\u75c7\u5019\u7fa4\u306e\u6700\u3082\u4e00\u822c\u7684\u306a\u539f\u56e0\u304c\u300c\u7b49\u8155\u67d3\u8272\u4f53\u300d\u3068\u547c\u3070\u308c\u308b\u7279\u6b8a\u306a\u67d3\u8272\u4f53\u306e\u5f62\u6210\u3067\u3042\u308b\u305f\u3081\u3001\u3053\u306e\u540d\u79f0\u304c\u3088\u304f\u4f7f\u308f\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>18p\u91cd\u8907\u75c7\u5019\u7fa4\uff08\u91cd\u75c7\u578b\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>18\u756a\u67d3\u8272\u4f53 \u77ed\u8155\uff08p\uff09\u5168\u4f53\uff08\u8a084\u30b3\u30d4\u30fc\u5b58\u5728\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u300118\u756a\u67d3\u8272\u4f53\u306e\u4e2d\u5fc3\u4f53\uff08\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\uff09\u304b\u3089\u5148\u306e\u77ed\u8155\u90e8\u5206\u304c\u3001\u7d30\u80de\u5185\u306b\u901a\u5e38\u306e2\u672c\u3067\u306f\u306a\u304f\u3001\u5408\u8a084\u672c\u5b58\u5728\u3059\u308b\u3053\u3068\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u75c5\u614b\u30e1\u30ab\u30cb\u30ba\u30e0\u3011<\/p>\n\n\n\n<p>\u901a\u5e38\u3001\u30d2\u30c8\u306e\u67d3\u8272\u4f53\u306f\u7236\u7531\u6765\u30fb\u6bcd\u7531\u6765\u306e\u30da\u30a2\u30672\u672c\uff08\u30c7\u30a3\u30d7\u30ed\u30a4\u30c9\uff09\u3067\u3059\u304c\u300118p\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\u3067\u306f\u3001\u901a\u5e38\u306e18\u756a\u67d3\u8272\u4f532\u672c\u306b\u52a0\u3048\u3001\u300c18\u756a\u67d3\u8272\u4f53\u306e\u77ed\u81552\u3064\u304c\u7d50\u5408\u3057\u305f\u4f59\u5206\u306a\u67d3\u8272\u4f53\uff08\u7b49\u8155\u67d3\u8272\u4f53\uff09\u300d\u304c1\u672c\u5b58\u5728\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u907a\u4f1d\u5b50\u91cf\u52b9\u679c:<\/strong> 18\u756a\u67d3\u8272\u4f53\u77ed\u8155\u306b\u306f\u3001\u8133\u306e\u767a\u9054\u3001\u7b4b\u8089\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3001\u6210\u9577\u306b\u95a2\u9023\u3059\u308b\u591a\u304f\u306e\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u3053\u308c\u3089\u304c4\u30b3\u30d4\u30fc\u5b58\u5728\u3059\u308b\u3053\u3068\u3067\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u7523\u751f\u30d0\u30e9\u30f3\u30b9\u304c\u8457\u3057\u304f\u5d29\u308c\u3001\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u767a\u9054\u7570\u5e38\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5fae\u5c0f\u91cd\u8907\u3068\u306e\u9055\u3044:<\/strong> \u6570\u30e1\u30ac\u30d9\u30fc\u30b9\u7a0b\u5ea6\u306e<strong>\u5fae\u5c0f<\/strong>\u91cd\u8907\u3068\u306f\u7570\u306a\u308a\u3001\u77ed\u8155\u5168\u4f53\uff08\u7d0415Mb\uff09\u304c\u904e\u5270\u306b\u306a\u308b\u305f\u3081\u3001\u75c7\u72b6\u306f\u3088\u308a\u660e\u78ba\u3067\u3001\u5168\u8eab\u306b\u5f71\u97ff\u304c\u53ca\u3073\u307e\u3059\u3002<\/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>\u51fa\u751f\u5150 140,000\u4eba \u301c 180,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5e0c\u5c11\u6027:<\/strong> \u6975\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002\u4e16\u754c\u4e2d\u3067\u3053\u308c\u307e\u3067\u306b\u6570\u767e\u4f8b\u7a0b\u5ea6\u306e\u5831\u544a\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u8a3a\u65ad\u6280\u8853\u306e\u5411\u4e0a\uff08\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306e\u666e\u53ca\uff09\u306b\u3088\u308a\u3001\u4ee5\u524d\u3088\u308a\u6b63\u78ba\u306a\u983b\u5ea6\u304c\u628a\u63e1\u3055\u308c\u3064\u3064\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee:<\/strong> \u7537\u5973\u3067\u306e\u767a\u751f\u983b\u5ea6\u306b\u6709\u610f\u306a\u5dee\u306f\u8a8d\u3081\u3089\u308c\u3066\u304a\u3089\u305a\u3001\u3069\u3061\u3089\u306e\u6027\u5225\u3067\u3082\u767a\u75c7\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6bcd\u4f53\u5e74\u9f62:<\/strong> \u4ed6\u306e\u4e09\u4f53\u6027\uff0821\u30c8\u30ea\u30bd\u30df\u30fc\u306a\u3069\uff09\u3068\u540c\u69d8\u306b\u3001\u6bcd\u89aa\u306e\u51fa\u7523\u5e74\u9f62\u304c\u9ad8\u3044\u307b\u3069\u767a\u751f\u30ea\u30b9\u30af\u304c\u308f\u305a\u304b\u306b\u4e0a\u6607\u3059\u308b\u3068\u3044\u3046\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u591a\u304f\u306f\u5e74\u9f62\u306b\u95a2\u308f\u3089\u305a\u767a\u751f\u3059\u308b\u7a81\u7136\u5909\u7570\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>Tetrasomy 18p syndrome\u306f\u3001\u51fa\u751f\u76f4\u5f8c\u306e\u7b4b\u7dca\u5f35\u306e\u7570\u5e38\u304b\u3089\u59cb\u307e\u308a\u3001\u6210\u9577\u3001\u77e5\u80fd\u3001\u9aa8\u683c\u306a\u3069\u591a\u5c90\u306b\u308f\u305f\u308b\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u7b4b\u7dca\u5f35\u306e\u7570\u5e38\uff08\u3082\u3063\u3068\u3082\u9855\u8457\u306a\u7279\u5fb4\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4e73\u5150\u671f\u306e\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09:<\/strong> \u51fa\u751f\u76f4\u5f8c\u306f\u300c\u4f53\u304c\u67d4\u3089\u304b\u3044\uff08\u30d5\u30ed\u30c3\u30d4\u30fc\u30a4\u30f3\u30d5\u30a1\u30f3\u30c8\uff09\u300d\u72b6\u614b\u3067\u3042\u308a\u3001\u9996\u3059\u308f\u308a\u3084\u5bdd\u8fd4\u308a\u306a\u3069\u306e\u904b\u52d5\u767a\u9054\u304c\u9045\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u305d\u306e\u5f8c\u306e\u7b4b\u7dca\u5f35\u4ea2\u9032\uff08\u75d9\u6027\uff09:<\/strong> \u6210\u9577\u3068\u3068\u3082\u306b\u3001\u9006\u306b\u624b\u8db3\u306e\u7b4b\u8089\u304c\u786c\u304f\u7a81\u3063\u5f35\u308b\u300c\u75d9\u6027\uff08\u3051\u3044\u305b\u3044\uff09\u300d\u306b\u8ee2\u3058\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u7279\u306b\u4e0b\u80a2\uff08\u8db3\uff09\u306e\u786c\u3055\u304c\u76ee\u7acb\u3064\u3088\u3046\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u304c\u6b69\u884c\u306e\u56f0\u96e3\u3055\u306b\u7e4b\u304c\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u795e\u7d4c\u767a\u9054\u3068\u77e5\u80fd<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3:<\/strong> \u307b\u307c\u3059\u3079\u3066\u306e\u75c7\u4f8b\u3067\u3001\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3092\u4f34\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u767a\u9054\u306e\u8457\u3057\u3044\u9045\u308c:<\/strong> \u904b\u52d5\u767a\u9054\u4ee5\u4e0a\u306b\u3001\u8a00\u8449\u306e\u7372\u5f97\u306b\u6642\u9593\u304c\u304b\u304b\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u767a\u9054\u9045\u6ede:<\/strong> \u72ec\u6b69\uff08\u4e00\u4eba\u6b69\u304d\uff09\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308b\u6642\u671f\u304c\u3001\u5e73\u5747\u3057\u30662\u6b73\u534a\u304b\u30893\u6b73\u4ee5\u964d\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08Facial Features\uff09<\/strong><\/p>\n\n\n\n<p>\u5916\u898b\u7684\u306a\u7279\u5fb4\u306f\u63a7\u3048\u3081\u3067\u3059\u304c\u3001\u5171\u901a\u306e\u6240\u898b\u304c\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5c0f\u984e\u75c7:<\/strong> \u3042\u3054\u304c\u5c0f\u3055\u304f\u3001\u5f8c\u308d\u306b\u4e0b\u304c\u3063\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u8033\u306e\u7570\u5e38:<\/strong> \u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\uff09\u3001\u8033\u4ecb\u306e\u5f62\u304c\u72ec\u7279\u3001\u3042\u308b\u3044\u306f\u7a81\u51fa\u3057\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u9ad8\u3044\u984d:<\/strong> \u984d\u304c\u5e83\u304f\u3001\u7a81\u304d\u51fa\u3057\u3066\u3044\u308b\u3002<\/li>\n\n\n\n<li><strong>\u77ed\u3044\u9f3b:<\/strong> \u9f3b\u304c\u5c0f\u3055\u304f\u3001\u9f3b\u6839\u90e8\u304c\u5e73\u5766\u3002<\/li>\n\n\n\n<li><strong>\u773c\u77bc\u4e0b\u5782:<\/strong> \u307e\u3076\u305f\u304c\u5c11\u3057\u5782\u308c\u4e0b\u304c\u3063\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u6210\u9577\u3068\u9aa8\u683c<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577:<\/strong> \u51fa\u751f\u6642\u306f\u6a19\u6e96\u7684\u3067\u3082\u3001\u305d\u306e\u5f8c\u306e\u6210\u9577\u30b9\u30d4\u30fc\u30c9\u304c\u3086\u3063\u304f\u308a\u3067\u3001\u6700\u7d42\u8eab\u9577\u306f\u4f4e\u3081\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5074\u5f2f\u75c7\u30fb\u810a\u67f1\u5f8c\u5f2f:<\/strong> \u7b4b\u8089\u306e\u7dca\u5f35\u30d0\u30e9\u30f3\u30b9\u304c\u60aa\u3044\u305f\u3081\u3001\u6210\u9577\u671f\u306b\u80cc\u9aa8\u304c\u66f2\u304c\u308a\u3084\u3059\u3044\u6027\u8cea\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u8db3\u306e\u5909\u5f62:<\/strong> \u5185\u53cd\u8db3\u3084\u6241\u5e73\u8db3\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\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>\u6442\u98df\u969c\u5bb3:<\/strong> \u4e73\u5150\u671f\u306e\u5438\u3044\u8fbc\u3080\u529b\u306e\u5f31\u3055\uff08\u54fa\u4e73\u56f0\u96e3\uff09\u3084\u3001\u80c3\u98df\u9053\u9006\u6d41\u75c7\uff08GERD\uff09\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4fbf\u79d8:<\/strong> \u8178\u306e\u52d5\u304d\u306b\u95a2\u308f\u308b\u7b4b\u8089\u306e\u8abf\u7bc0\u4e0d\u5168\u306b\u3088\u308a\u3001\u9811\u56fa\u306a\u4fbf\u79d8\u3092\u6765\u3057\u3084\u3059\u3044\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u505c\u7559\u7cbe\u5de3:<\/strong> \u7537\u5150\u306b\u304a\u3044\u3066\u7cbe\u5de3\u304c\u9670\u56a2\u5185\u306b\u964d\u308a\u3066\u3053\u306a\u3044\u72b6\u614b\u3002<\/li>\n\n\n\n<li><strong>\u8996\u899a\u30fb\u8074\u899a:<\/strong> \u659c\u8996\u3084\u5c48\u6298\u7570\u5e38\u3001\u53cd\u5fa9\u6027\u306e\u4e2d\u8033\u708e\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>\u7b49\u8155\u67d3\u8272\u4f5318p\uff08i(18p)\uff09\u306e\u5f62\u6210\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u306e\u307b\u3068\u3093\u3069\uff08\u7d0499%\u4ee5\u4e0a\uff09\u306f\u3001\u4e21\u89aa\u304b\u3089\u53d7\u3051\u7d99\u3044\u3060\u3082\u306e\u3067\u306f\u306a\u304f\u3001\u53d7\u7cbe\u306e\u904e\u7a0b\u3067\u5076\u7136\u306b\u751f\u3058\u308b\u300c\u65b0\u751f\u7a81\u7136\u5909\u7570\u300d\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u7b49\u8155\u67d3\u8272\u4f53\u306e\u5f62\u6210:<br>\u7d30\u80de\u5206\u88c2\u306e\u969b\u300118\u756a\u67d3\u8272\u4f53\u304c\u672c\u6765\u306e\u300c\u7e26\u65b9\u5411\u300d\u3067\u306f\u306a\u304f\u300c\u6a2a\u65b9\u5411\u300d\u306b\u5272\u308c\u3066\u3057\u307e\u3044\u3001\u77ed\u8155\uff08p\uff09\u3060\u3051\u30922\u3064\u6301\u3064\u300c\u7b49\u8155\u67d3\u8272\u4f5318p\u300d\u304c\u4f5c\u3089\u308c\u307e\u3059\u3002\u3053\u308c\u304c\u901a\u5e38\u306e18\u756a\u67d3\u8272\u4f53\u30da\u30a2\u306b\u52a0\u308f\u308b\u3053\u3068\u3067\u300118p\u304c\u8a084\u672c\u306b\u306a\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30e2\u30b6\u30a4\u30af\u578b:<br>\u7a00\u306b\u300118p\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\u306e\u7d30\u80de\u3068\u6b63\u5e38\u306a\u7d30\u80de\u304c\u6df7\u5728\u3059\u308b\u300c\u30e2\u30b6\u30a4\u30af\u578b\u300d\u306e\u75c7\u4f8b\u3082\u5b58\u5728\u3057\u307e\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u75c7\u72b6\u306f\u6bd4\u8f03\u7684\u30de\u30a4\u30eb\u30c9\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u8a3a\u65ad\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u81e8\u5e8a\u7684\u306a\u7b4b\u7dca\u5f35\u306e\u63a8\u79fb\u304b\u3089\u672c\u75c7\u5019\u7fa4\u3092\u7591\u3044\u3001\u67d3\u8272\u4f53\u30fb\u30b2\u30ce\u30e0\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u6838\u578b\u5206\u6790\uff08G\u30d0\u30f3\u30c9\u6cd5\uff09:<br>\u9855\u5fae\u93e1\u3067\u67d3\u8272\u4f53\u306e\u5f62\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u901a\u5e38\u306e\u67d3\u8272\u4f5346\u672c\u306b\u52a0\u3048\u3001\u5c0f\u3055\u306a\u4f59\u5206\u306a\u67d3\u8272\u4f53\uff08\u7b49\u8155\u67d3\u8272\u4f53\uff09\u304c1\u672c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u3067\u8a3a\u65ad\u3055\u308c\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<br>18p\u9818\u57df\u306e\u30b3\u30d4\u30fc\u6570\u304c\u5897\u3048\u3066\u3044\u308b\u3053\u3068\u3092\u7cbe\u5bc6\u306b\u7279\u5b9a\u3057\u307e\u3059\u3002\u5fae\u5c0f\u306a\u91cd\u8907\u3068\u306e\u9451\u5225\u3084\u3001\u30e2\u30b6\u30a4\u30af\u306e\u691c\u51fa\u306b\u6975\u3081\u3066\u6709\u7528\u3067\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>18\u756a\u67d3\u8272\u4f53\u306e\u4e2d\u5fc3\u4f53\u3084\u77ed\u8155\u306b\u7279\u7570\u7684\u306a\u30d7\u30ed\u30fc\u30d6\uff08\u86cd\u5149\u6a19\u8b58\uff09\u3092\u7528\u3044\u3066\u300118p\u304c4\u3064\u5b58\u5728\u3059\u308b\u3053\u3068\u3092\u8996\u899a\u7684\u306b\u8a3c\u660e\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u81e8\u5e8a\u8a55\u4fa1:<br>\u982d\u90e8MRI\u306b\u3088\u308b\u8133\u69cb\u9020\u306e\u78ba\u8a8d\u3001\u810a\u690e\u30ec\u30f3\u30c8\u30b2\u30f3\u3001\u56a5\u4e0b\u6a5f\u80fd\u8a55\u4fa1\u306a\u3069\u3002<\/li>\n<\/ol>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u300c\u904e\u5270\u306a\u67d3\u8272\u4f53\u3092\u6e1b\u3089\u3059\u300d\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001\u591a\u7cfb\u7d71\u306e\u75c7\u72b6\u306b\u5bfe\u3059\u308b**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u300d**\u3068\u3001\u6a5f\u80fd\u306e\u6700\u5927\u5316\u3092\u76ee\u6307\u3059\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\uff08\u7642\u80b2\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u4e73\u5150\u671f\u306e\u4f4e\u7dca\u5f35\u306b\u5bfe\u3059\u308b\u30b5\u30dd\u30fc\u30c8\u304b\u3089\u3001\u305d\u306e\u5f8c\u306e\u75d9\u6027\uff08\u7a81\u3063\u3071\u308a\uff09\u3092\u548c\u3089\u3052\u3001\u6b69\u884c\u6a5f\u80fd\u3092\u7dad\u6301\u3059\u308b\u305f\u3081\u306e\u30ea\u30cf\u30d3\u30ea\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u5148\u306e\u5668\u7528\u3055\u3084\u3001\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u8a13\u7df4\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09:<\/strong> \u8a00\u8a9e\u7372\u5f97\u306e\u652f\u63f4\u3001\u304a\u3088\u3073\u6442\u98df\u56a5\u4e0b\u8a13\u7df4\uff08\u98f2\u307f\u8fbc\u307f\u306e\u8a13\u7df4\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u5185\u79d1\u7684\u30fb\u5916\u79d1\u7684\u6cbb\u7642<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u75d9\u6027\u306e\u7ba1\u7406:<\/strong> \u7b4b\u8089\u306e\u7a81\u3063\u3071\u308a\u304c\u5f37\u3044\u5834\u5408\u3001\u30ea\u30cf\u30d3\u30ea\u306b\u52a0\u3048\u3001\u7b4b\u5f1b\u7de9\u85ac\u306e\u6295\u4e0e\u3084\u30dc\u30c4\u30ea\u30cc\u30b9\u7642\u6cd5\u306a\u3069\u304c\u691c\u8a0e\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u80c3\u98df\u9053\u9006\u6d41\u30fb\u4fbf\u79d8\u306e\u7ba1\u7406:<\/strong> \u9069\u5207\u306a\u98df\u4e8b\u306e\u5f62\u614b\u8abf\u6574\u3084\u3001\u85ac\u7269\u7642\u6cd5\u3002<\/li>\n\n\n\n<li><strong>\u6574\u5f62\u5916\u79d1\u624b\u8853:<\/strong> \u5074\u5f2f\u75c7\u304c\u9032\u884c\u3057\u305f\u5834\u5408\u306e\u810a\u690e\u56fa\u5b9a\u8853\u3084\u3001\u8db3\u306e\u5909\u5f62\u306b\u5bfe\u3059\u308b\u77ef\u6b63\u624b\u8853\u3002<\/li>\n\n\n\n<li><strong>\u6ccc\u5c3f\u5668\u79d1\u624b\u8853:<\/strong> \u505c\u7559\u7cbe\u5de3\u306b\u5bfe\u3059\u308b\u56fa\u5b9a\u8853\uff08\u901a\u5e381\u6b73\u9803\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u6559\u80b2\u30fb\u793e\u4f1a\u7684\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u767a\u9054\u6bb5\u968e\u306b\u5408\u308f\u305b\u305f\u7279\u5225\u652f\u63f4\u6559\u80b2\u3002<\/li>\n\n\n\n<li>\u8a00\u8449\u3067\u306e\u610f\u601d\u758e\u901a\u304c\u96e3\u3057\u3044\u5834\u5408\u3001\u30b5\u30a4\u30f3\u8a00\u8a9e\u3084\u7d75\u30ab\u30fc\u30c9\u3001\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u3092\u6d3b\u7528\u3057\u305f\u300c\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u300d\u306e\u5c0e\u5165\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u4e88\u5f8c<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u751f\u5b58\u671f\u9593:<\/strong> \u91cd\u7be4\u306a\u5fc3\u75be\u60a3\u306a\u3069\u306e\u5185\u90e8\u5947\u5f62\u3092\u4f34\u3046\u3053\u3068\u306f\u6bd4\u8f03\u7684\u5c11\u306a\u304f\u3001\u9069\u5207\u306a\u30b1\u30a2\uff08\u7279\u306b\u80ba\u708e\u4e88\u9632\u3084\u4fbf\u79d8\u7ba1\u7406\u306a\u3069\uff09\u304c\u884c\u308f\u308c\u308c\u3070\u3001\u5bff\u547d\u305d\u306e\u3082\u306e\u306f\u4e00\u822c\u306e\u65b9\u3068\u5927\u304d\u304f\u5909\u308f\u3089\u305a\u3001\u591a\u304f\u306e\u65b9\u304c\u6210\u4eba\u671f\u3092\u8fce\u3048\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u81ea\u7acb\u5ea6:<\/strong> \u751f\u6daf\u306b\u308f\u305f\u308b\u4e00\u5b9a\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u304c\u3001\u7d99\u7d9a\u7684\u306a\u30ea\u30cf\u30d3\u30ea\u306b\u3088\u308a\u3001\u81ea\u7acb\u6b69\u884c\u3092\u7372\u5f97\u3057\u3001\u793e\u4f1a\u8cc7\u6e90\u3092\u5229\u7528\u3057\u306a\u304c\u3089\u7a4f\u3084\u304b\u306a\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u52a0\u9f62\u306b\u4f34\u3046\u5909\u5316:<\/strong> \u6210\u4eba\u671f\u4ee5\u964d\u3001\u7b4b\u8089\u306e\u7dca\u5f35\u7570\u5e38\u306b\u4f34\u3046\u95a2\u7bc0\u306e\u75db\u307f\u3084\u3001\u810a\u690e\u306e\u5909\u5316\u304c\u9855\u8457\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308b\u305f\u3081\u3001\u9577\u671f\u7684\u306a\u6574\u5f62\u5916\u79d1\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u63a8\u5968\u3055\u308c\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>Tetrasomy 18p syndrome\uff0818p\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\u75c7\u5019\u7fa4\uff09\u306f\u300118\u756a\u67d3\u8272\u4f53\u306e\u77ed\u3044\u65b9\u306e\u8155\u304c\u3001\u901a\u5e38\u3088\u308a2\u3064\u5206\u591a\u304f\u5b58\u5728\u3059\u308b\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u975e\u5e38\u306b\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u7570\u5e38\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u5927\u304d\u306a\u7279\u5fb4\u306f\u3001\u8d64\u3061\u3083\u3093\u306e\u6642\u306f\u4f53\u304c\u67d4\u3089\u304b\u304f\u3001\u6210\u9577\u3059\u308b\u3068\u9006\u306b\u624b\u8db3\u304c\u7a81\u3063\u5f35\u308a\u3084\u3059\u304f\u306a\u308b\u3068\u3044\u3046\u300c\u7b4b\u8089\u306e\u6027\u8cea\u306e\u5909\u5316\u300d\u306b\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3053\u3068\u3082\u7279\u5fb4\u306e\u4e00\u3064\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u300c\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\u300d\u3068\u3044\u3046\u805e\u304d\u6163\u308c\u306a\u3044\u8a00\u8449\u306b\u3001\u3054\u5bb6\u65cf\u306f\u4e0d\u5b89\u3092\u611f\u3058\u3089\u308c\u308b\u3053\u3068\u3067\u3057\u3087\u3046\u3002\u3057\u304b\u3057\u3001\u3053\u306e\u75c5\u6c17\u306f\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\u306a\u3069\u306e\u9032\u6b69\u306b\u3088\u308a\u3001\u539f\u56e0\u3092\u6b63\u78ba\u306b\u77e5\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u65e9\u304f\u304b\u3089\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u3092\u59cb\u3081\u3001\u7b4b\u8089\u306e\u7a81\u3063\u3071\u308a\u3092\u548c\u3089\u3052\u305f\u308a\u3001\u8a00\u8449\u306e\u7df4\u7fd2\u3092\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u3067\u3001\u304a\u5b50\u69d8\u306e\u6301\u3064\u53ef\u80fd\u6027\u3092\u5927\u304d\u304f\u5e83\u3052\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u5c02\u9580\u533b\u3084\u7642\u80b2\u30c1\u30fc\u30e0\u3068\u624b\u3092\u53d6\u308a\u5408\u3044\u3001\u304a\u5b50\u69d8\u4e00\u4eba\u3072\u3068\u308a\u306e\u6b69\u5e45\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\u5143<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>Callen, D. F., et al.<\/strong> (1990). <em>Tetrasomy 18p: Confirmation by in situ hybridization.<\/em> American Journal of Medical Genetics.\n<ul class=\"wp-block-list\">\n<li>\uff0818p\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\u3092\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u624b\u6cd5\u3067\u521d\u3081\u3066\u660e\u78ba\u306b\u8a3c\u660e\u3057\u305f\u521d\u671f\u306e\u91cd\u8981\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Seibold, C., et al.<\/strong> (2005). <em>Tetrasomy 18p syndrome: Description of 11 new cases and review of the literature.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff0811\u75c7\u4f8b\u306e\u8a73\u7d30\u306a\u81e8\u5e8a\u7d4c\u904e\u3092\u307e\u3068\u3081\u3001\u672c\u75c7\u5019\u7fa4\u306e\u5178\u578b\u7684\u306a\u7279\u5fb4\u3092\u5b9a\u7fa9\u3057\u305f\u6587\u732e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Tetrasomy 18p<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08\u6700\u65b0\u306e\u533b\u5b66\u7684\u77e5\u898b\u3001\u8a3a\u65ad\u3001\u7ba1\u7406\u6307\u91dd\u304c\u7db2\u7f85\u3055\u308c\u3066\u3044\u308b\u4e16\u754c\u7684\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>The Chromosome 18 Registry &amp; Research Society<\/strong>: <em>Tetrasomy 18p: A Guide for Families<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff0818\u756a\u67d3\u8272\u4f53\u7570\u5e38\u306e\u5c02\u9580\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u3054\u5bb6\u65cf\u5411\u3051\u306e\u5b9f\u8df5\u7684\u304b\u3064\u5305\u62ec\u7684\u306a\u30ac\u30a4\u30c9\u8cc7\u6599\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Orphanet<\/strong>: <em>Tetrasomy 18p (ORPHA:3306)<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u75be\u60a3\u306e\u56fd\u969b\u7684\u306a\u30dd\u30fc\u30bf\u30eb\u30b5\u30a4\u30c8\u306b\u3088\u308b\u75c5\u614b\u6982\u8981\u3068\u30ea\u30bd\u30fc\u30b9\u60c5\u5831\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Boyle, J., et al.<\/strong> (2001). <em>Clinical spectrum of tetrasomy 18p.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff0818p\u30c6\u30c8\u30e9\u30bd\u30df\u30fc\u306e\u81e8\u5e8a\u7684\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u3001\u7279\u306b\u7b4b\u7dca\u5f35\u306e\u63a8\u79fb\u306b\u7126\u70b9\u3092\u5f53\u3066\u305f\u7814\u7a76\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Cody, J. D., et al.<\/strong> (2014). <em>Growth hormone deficiency in children with 18p abnormalities.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff0818\u756a\u67d3\u8272\u4f53\u7570\u5e38\u306b\u4f34\u3046\u6210\u9577\u30db\u30eb\u30e2\u30f3\u5206\u6ccc\u3078\u306e\u5f71\u97ff\u3092\u8abf\u67fb\u3057\u305f\u7814\u7a76\u3002\uff09<\/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-17473","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\/17473","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\/17473\/revisions"}],"predecessor-version":[{"id":17475,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17473\/revisions\/17475"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17473"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}