{"id":17562,"date":"2026-01-22T07:01:58","date_gmt":"2026-01-22T07:01:58","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=17562"},"modified":"2026-01-22T07:02:53","modified_gmt":"2026-01-22T07:02:53","slug":"xq22-2-deletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/xq22-2-deletion-syndrome\/","title":{"rendered":"Xq22.2 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><strong>Xq22.2\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\uff08Xq22.2 microdeletion syndrome\uff09<\/strong><\/li>\n\n\n\n<li><strong>PLP1\u95a2\u9023\u6b20\u5931\u75c7\u5019\u7fa4<\/strong><\/li>\n\n\n\n<li><strong>\u30da\u30ea\u30c4\u30a7\u30a6\u30b9\u30fb\u30e1\u30eb\u30c4\u30d0\u30c3\u30cf\u75c5\uff08Pelizaeus-Merzbacher Disease; PMD\uff09\u6b20\u5931\u578b<\/strong><\/li>\n\n\n\n<li><strong>Xq22\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4<\/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>X\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0922.2\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong><\/p>\n\n\n\n<p>Xq22.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u3042\u308b\u300c22.2\u300d\u3068\u3044\u3046\u30d0\u30f3\u30c9\u9818\u57df\u306b\u304a\u3044\u3066\u3001\u7279\u5b9a\u306eDNA\u914d\u5217\u304c\u5931\u308f\u308c\u308b\uff08<strong>\u5fae\u5c0f<\/strong>\u6b20\u5931\uff09\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u9818\u57df\u306b\u306f\u3001\u795e\u7d4c\u7cfb\u306e\u6b63\u5e38\u306a\u6a5f\u80fd\u7dad\u6301\u306b\u4e0d\u53ef\u6b20\u306a\u300cPLP1\u300d\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u305d\u306e\u5468\u8fba\u9818\u57df\u306e\u6b20\u5931\u7bc4\u56f2\u306b\u5fdc\u3058\u3066\u75c7\u72b6\u304c\u8907\u96d1\u5316\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3010\u30b2\u30ce\u30e0\u4e0a\u306e\u8a73\u7d30\u3068\u4e3b\u8981\u306a\u8cac\u4efb\u907a\u4f1d\u5b50\u3011<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u3067\u6700\u3082\u91cd\u8981\u306a\u300c\u8cac\u4efb\u907a\u4f1d\u5b50\u300d\u306f\u4ee5\u4e0b\u306e\u901a\u308a\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>PLP1\u907a\u4f1d\u5b50 (Proteolipid Protein 1):<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u4e2d\u67a2\u795e\u7d4c\u7cfb\uff08\u8133\u3084\u810a\u9ac4\uff09\u306b\u304a\u3044\u3066\u3001\u795e\u7d4c\u7d30\u80de\u306e\u7a81\u8d77\u3092\u5305\u3080\u300c\u9ac4\u9798\uff08\u30df\u30a8\u30ea\u30f3\uff09\u300d\u306e\u4e3b\u8981\u306a\u69cb\u6210\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u4f5c\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1a\u6b20\u5931\u306b\u3088\u308a\u30df\u30a8\u30ea\u30f3\u304c\u5341\u5206\u306b\u5f62\u6210\u3055\u308c\u306a\u3044\u300c\u4f4e\u9ac4\u9798\u5316\u300d\u304c\u8d77\u3053\u308a\u3001\u795e\u7d4c\u4f1d\u9054\u304c\u8457\u3057\u304f\u963b\u5bb3\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>RAB40AL\u907a\u4f1d\u5b50:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u5f79\u5272\uff1a\u7d30\u80de\u5185\u306e\u30bf\u30f3\u30d1\u30af\u8cea\u8f38\u9001\u306b\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u5f71\u97ff\uff1aPLP1\u3068\u5171\u306b\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u3001\u767a\u9054\u9045\u6ede\u3084\u7279\u5b9a\u306e\u5f62\u614b\u7570\u5e38\u306b\u5bc4\u4e0e\u3059\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>PHF6\u907a\u4f1d\u5b50\uff08\u96a3\u63a5\u9818\u57df\uff09:<\/strong>\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u304cXq22.2\u304b\u3089Xq26\u65b9\u9762\u3078\u5e83\u304c\u308b\u5834\u5408\u3001\u30dc\u30ec\u30bd\u30f3\u30fb\u30d5\u30a9\u30eb\u30b9\u30de\u30f3\u30fb\u30ec\u30fc\u30de\u30f3\u75c7\u5019\u7fa4\uff08BFLS\uff09\u306e\u8cac\u4efb\u907a\u4f1d\u5b50\u3067\u3042\u308bPHF6\u304c\u542b\u307e\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u77e5\u7684\u969c\u5bb3\u3084\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u304c\u3088\u308a\u9855\u8457\u306b\u306a\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>\u7537\u6027\u306b\u304a\u3044\u3066 \u7d04200,000\u4eba \u301c 500,000\u4eba\u306b1\u4eba<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6b63\u78ba\u306a\u983b\u5ea6:<\/strong> \u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u3042\u308a\u3001\u6b63\u78ba\u306a\u7d71\u8a08\u3092\u51fa\u3059\u3053\u3068\u306f\u56f0\u96e3\u3067\u3059\u304c\u3001\u30da\u30ea\u30c4\u30a7\u30a6\u30b9\u30fb\u30e1\u30eb\u30c4\u30d0\u30c3\u30cf\u75c5\uff08PMD\uff09\u5168\u4f53\u306e\u7d042%\u672a\u6e80\u304c\u3053\u306e\u300c\u6b20\u5931\u578b\u300d\u3067\u3042\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6027\u5dee\u306e\u5f71\u97ff:<\/strong> X\u9023\u9396\uff08X-linked\uff09\u306e\u907a\u4f1d\u5f62\u5f0f\u3092\u3068\u308b\u305f\u3081\u3001\u7537\u6027\uff08XY\uff09\u3067\u306f1\u672c\u3057\u304b\u306a\u3044X\u67d3\u8272\u4f53\u306eXq22.2\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u91cd\u7be4\u306a\u795e\u7d4c\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002\u5973\u6027\uff08XX\uff09\u306f\u901a\u5e38\u3001\u7121\u75c7\u72b6\u306e\u4fdd\u56e0\u8005\u3068\u306a\u308a\u307e\u3059\u304c\u3001X\u67d3\u8272\u4f53\u306e\u4e0d\u6d3b\u6027\u5316\u306e\u504f\u308a\u306b\u3088\u308a\u3001\u6210\u4eba\u671f\u4ee5\u964d\u306b\u8efd\u5ea6\u306e\u6b69\u884c\u969c\u5bb3\uff08\u75d9\u6027\u9ebb\u75fa\uff09\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\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>Xq22.2\u6b20\u5931\u75c7\u5019\u7fa4\u306f\u3001\u4e3b\u306b\u795e\u7d4c\u7cfb\u306e\u767a\u9054\u4e0d\u5168\uff08\u767d\u8cea\u5909\u6027\u75c7\uff09\u306b\u95a2\u9023\u3059\u308b\u75c7\u72b6\u3092\u5448\u3057\u307e\u3059\u3002\u5358\u306a\u308b\u907a\u4f1d\u5b50\u91cd\u8907\u578bPMD\u3088\u308a\u3082\u3001\u6b20\u5931\u578b\u306f\u7279\u6709\u306e\u81e8\u5e8a\u50cf\u3092\u6301\u3064\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u795e\u7d4c\u5b66\u7684\u75c7\u72b6\uff08\u30df\u30a8\u30ea\u30f3\u5f62\u6210\u4e0d\u5168\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u773c\u632f\uff08\u304c\u3093\u3057\u3093\uff09:<\/strong> \u4e73\u5150\u671f\u65e9\u671f\uff08\u751f\u5f8c\u6570\u30f6\u6708\u4ee5\u5185\uff09\u304b\u3089\u3001\u76ee\u304c\u7d30\u304b\u304f\u63fa\u308c\u308b\u300c\u773c\u632f\u300d\u304c\u73fe\u308c\u307e\u3059\u3002\u3053\u308c\u306f\u672c\u75c7\u5019\u7fa4\u306e\u521d\u671f\u306e\u91cd\u8981\u306a\u30b5\u30a4\u30f3\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u304b\u3089\u75d9\u6027\u3078:<\/strong> \u4e73\u5150\u671f\u306b\u306f\u4f53\u304c\u67d4\u3089\u304b\u3044\uff08\u4f4e\u7dca\u5f35\uff09\u72b6\u614b\u3067\u3059\u304c\u3001\u6210\u9577\u3068\u3068\u3082\u306b\u624b\u8db3\u304c\u7a81\u3063\u5f35\u308a\u3001\u7b4b\u8089\u304c\u786c\u304f\u306a\u308b\u300c\u75d9\u6027\uff08\u3051\u3044\u305b\u3044\uff09\u300d\u306b\u8ee2\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u4e0d\u968f\u610f\u904b\u52d5\uff08\u30a2\u30c6\u30c8\u30fc\u30bc\uff09:<\/strong> \u81ea\u5206\u306e\u610f\u5fd7\u3068\u306f\u7121\u95a2\u4fc2\u306b\u4f53\u304c\u52d5\u3044\u3066\u3057\u307e\u3046\u52d5\u4f5c\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u904b\u52d5\u767a\u9054\u9045\u6ede:<\/strong> \u9996\u3059\u308f\u308a\u3084\u304a\u5ea7\u308a\u304c\u5927\u5e45\u306b\u9045\u308c\u3001\u81ea\u529b\u6b69\u884c\u304c\u56f0\u96e3\u306a\u30b1\u30fc\u30b9\u3082\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u77e5\u80fd\u304a\u3088\u3073\u767a\u9054\u9762<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u77e5\u7684\u969c\u5bb3:<\/strong> \u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u8a00\u8a9e\u306e\u7406\u89e3\u306b\u6bd4\u3079\u3066\u300c\u8a71\u3059\u3053\u3068\uff08\u8868\u51fa\uff09\u300d\u304c\u56f0\u96e3\u306b\u306a\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5168\u822c\u7684\u306a\u767a\u9054\u9045\u6ede:<\/strong> \u8a8d\u77e5\u6a5f\u80fd\u306e\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308a\u3001\u7279\u5225\u306a\u652f\u63f4\u3092\u5fc5\u8981\u3068\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u6b20\u5931\u7bc4\u56f2\u304c\u5e83\u3044\u5834\u5408\uff09<\/strong><\/p>\n\n\n\n<p>PLP1\u5468\u8fba\u306e\u907a\u4f1d\u5b50\u3092\u5dfb\u304d\u8fbc\u3080\u300c\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u300d\u306e\u5834\u5408\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u9854\u8c8c\u7684\u7279\u5fb4\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u9ad8\u3044\u984d\uff08\u524d\u982d\u90e8\u306e\u7a81\u51fa\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u773c\u9593\u958b\u96e2\uff08\u4e21\u76ee\u306e\u9593\u9694\u304c\u5e83\u3044\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u8033\u306e\u4f4d\u7f6e\u304c\u4f4e\u3044\uff08\u4f4e\u4f4d\u4ed8\u7740\u8033\uff09<\/strong><\/li>\n\n\n\n<li><strong>\u5c0f\u3055\u306a\u984e\uff08\u5c0f\u984e\u75c7\uff09<\/strong><\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6210\u9577\u969c\u5bb3:<\/strong> \u8eab\u9577\u30fb\u4f53\u91cd\u306e\u4f38\u3073\u304c\u7de9\u3084\u304b\u3067\u3001\u5c0f\u67c4\u306a\u4f53\u683c\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u5589\u9cf4\uff08\u3053\u3046\u3081\u3044\uff09:<\/strong> \u5589\u306e\u7b4b\u8089\u306e\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u4e0d\u8db3\u306b\u3088\u308a\u3001\u547c\u5438\u6642\u306b\u300c\u30bc\u30fc\u30bc\u30fc\u300d\u3068\u3044\u3046\u97f3\u304c\u3059\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff08\u5589\u982d\u8edf\u5f31\u75c7\u306b\u4f3c\u305f\u75c7\u72b6\uff09\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p><strong>Xq22.2\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\uff08X\u9023\u9396\u96a3\u63a5\u907a\u4f1d\u5b50\u6b20\u5931\u75c7\u5019\u7fa4\uff09<\/strong><\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u3001X\u67d3\u8272\u4f53\u4e0a\u306ePLP1\u907a\u4f1d\u5b50\u3092\u542b\u3080\u9818\u57df\u304c\u7269\u7406\u7684\u306b\u5931\u308f\u308c\u308b\u3053\u3068\u3067\u767a\u75c7\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08De novo deletion\uff09: \u7d0470%<br>\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u306f\u6b63\u5e38\u3067\u3042\u308a\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u306e\u5f62\u6210\u904e\u7a0b\u3067\u5076\u7136\u306b\u5fae\u5c0f\u6b20\u5931\u304c\u751f\u3058\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u6bcd\u89aa\u304b\u3089\u306e\u7d99\u627f: \u7d0430%<br>\u7121\u75c7\u72b6\u3001\u3042\u308b\u3044\u306f\u8efd\u75c7\u306e\u6bcd\u89aa\uff08\u4fdd\u56e0\u8005\uff09\u304b\u3089\u53d7\u3051\u7d99\u304c\u308c\u308b\u30b1\u30fc\u30b9\u3067\u3059\u3002\u3053\u306e\u5834\u5408\u3001\u5bb6\u65cf\u6b74\u3068\u3057\u3066\u7537\u6027\u5074\u306b\u540c\u69d8\u306e\u75c7\u72b6\uff08\u3042\u308b\u3044\u306f\u6b69\u884c\u306e\u4e0d\u81ea\u7531\u306a\u6210\u4eba\u5973\u6027\uff09\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30df\u30a8\u30ea\u30f3\u5f62\u6210\u306e\u505c\u6b62:<br>PLP1\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u5b8c\u5168\u306b\u6b20\u4e4f\u3059\u308b\u3068\u3001\u795e\u7d4c\u7d30\u80de\u3092\u4fdd\u8b77\u3059\u308b\u30df\u30a8\u30ea\u30f3\uff08\u7d76\u7e01\u4f53\uff09\u304c\u4f5c\u3089\u308c\u305a\u3001\u8133\u5185\u306e\u4fe1\u53f7\u304c\u6f0f\u308c\u51fa\u3057\u305f\u308a\u9045\u5ef6\u3057\u305f\u308a\u3059\u308b\u3053\u3068\u3067\u3001\u5168\u3066\u306e\u795e\u7d4c\u75c7\u72b6\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\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\u795e\u7d4c\u75c7\u72b6\uff08\u773c\u632f\u3001\u767a\u9054\u9045\u6ede\uff09\u304b\u3089\u7591\u308f\u308c\u3001\u78ba\u5b9a\u306b\u306f\u30b2\u30ce\u30e0\u89e3\u6790\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<ol class=\"wp-block-list\">\n<li>\u982d\u90e8MRI\u691c\u67fb:<br>\u6975\u3081\u3066\u91cd\u8981\u306a\u691c\u67fb\u3067\u3059\u3002 \u300c\u4f4e\u9ac4\u9798\u5316\uff08Hypomyelination\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u3001\u8133\u306e\u767d\u8cea\uff08\u30df\u30a8\u30ea\u30f3\u304c\u3042\u308b\u90e8\u5206\uff09\u304c\u6210\u719f\u3057\u3066\u3044\u306a\u3044\u72ec\u7279\u306e\u753b\u50cf\u6240\u898b\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u67d3\u8272\u4f53\u691c\u67fb\uff08CMA\uff09:<br>\u78ba\u5b9a\u8a3a\u65ad\u306e\u30b4\u30fc\u30eb\u30c9\u30b9\u30bf\u30f3\u30c0\u30fc\u30c9\u3067\u3059\u3002Xq22.2\u9818\u57df\u306e\u3069\u306e\u7bc4\u56f2\u304c\u3001PLP1\u4ee5\u5916\u306b\u3069\u306e\u907a\u4f1d\u5b50\u3092\u5dfb\u304d\u8fbc\u3093\u3067\u6b20\u5931\u3057\u3066\u3044\u308b\u304b\u3092\u7cbe\u5bc6\u306b\u7279\u5b9a\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>FISH\u6cd5:<br>PLP1\u907a\u4f1d\u5b50\u9818\u57df\u3092\u5149\u3089\u305b\u308b\u30d7\u30ed\u30fc\u30d6\u3092\u7528\u3044\u3066\u30011\u672c\u5206\u304c\u6b20\u640d\u3057\u3066\u3044\u308b\u3053\u3068\u3092\u8996\u899a\u7684\u306b\u78ba\u8a8d\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u907a\u4f1d\u5b50\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0:<br>\u6b20\u5931\u3067\u306f\u306a\u304fPLP1\u907a\u4f1d\u5b50\u5185\u306e\u300c\u70b9\u5909\u7570\u300d\u304c\u306a\u3044\u304b\u3092\u8abf\u3079\u3001\u4ed6\u306ePMD\u30b5\u30d6\u30bf\u30a4\u30d7\u3068\u9451\u5225\u3057\u307e\u3059\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>\u73fe\u4ee3\u306e\u533b\u5b66\u306b\u304a\u3044\u3066\u3001\u5931\u308f\u308c\u305f\u30df\u30a8\u30ea\u30f3\u3092\u518d\u751f\u3055\u305b\u308b\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u6cbb\u7642\u306f\u3001QOL\uff08\u751f\u6d3b\u306e\u8cea\uff09\u3092\u7dad\u6301\u3059\u308b\u305f\u3081\u306e**\u300c\u591a\u8077\u7a2e\u9023\u643a\u306b\u3088\u308b\u5bfe\u75c7\u7642\u6cd5\u300d**\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\u65e9\u671f\u4ecb\u5165\uff09<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08PT\uff09:<\/strong> \u95a2\u7bc0\u306e\u62d8\u7e2e\u3092\u9632\u304e\u3001\u53ef\u80fd\u306a\u9650\u308a\u904b\u52d5\u6a5f\u80fd\u3092\u7dad\u6301\u3059\u308b\u305f\u3081\u306e\u30b9\u30c8\u30ec\u30c3\u30c1\u3084\u5ea7\u4f4d\u4fdd\u6301\u306e\u8a13\u7df4\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08OT\uff09:<\/strong> \u624b\u5148\u306e\u6a5f\u80fd\u7dad\u6301\u3084\u3001\u81ea\u52a9\u5177\u3092\u7528\u3044\u305f\u65e5\u5e38\u751f\u6d3b\u306e\u652f\u63f4\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08ST\uff09:<\/strong> \u56a5\u4e0b\uff08\u98f2\u307f\u8fbc\u307f\uff09\u306e\u8a13\u7df4\u3084\u3001\u8a00\u8449\u4ee5\u5916\u306e\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u624b\u6bb5\uff08\u7d75\u30ab\u30fc\u30c9\u3001\u8996\u899a\u652f\u63f4\u30c7\u30d0\u30a4\u30b9\uff09\u306e\u5c0e\u5165\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>2. \u75c7\u72b6\u306b\u5bfe\u3059\u308b\u533b\u5b66\u7684\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6297\u75d9\u7e2e\u85ac:<\/strong> \u7b4b\u8089\u306e\u7a81\u3063\u3071\u308a\u3092\u548c\u3089\u3052\u308b\u305f\u3081\u306e\u304a\u85ac\uff08\u30d0\u30af\u30ed\u30d5\u30a7\u30f3\u306a\u3069\uff09\u306e\u5185\u670d\u3002<\/li>\n\n\n\n<li><strong>\u3066\u3093\u304b\u3093\u6cbb\u7642:<\/strong> \u3051\u3044\u308c\u3093\u767a\u4f5c\u3092\u4f34\u3046\u5834\u5408\u306f\u6297\u3066\u3093\u304b\u3093\u85ac\u306b\u3088\u308b\u30b3\u30f3\u30c8\u30ed\u30fc\u30eb\u3002<\/li>\n\n\n\n<li><strong>\u6804\u990a\u7ba1\u7406:<\/strong> \u56a5\u4e0b\u969c\u5bb3\u304c\u3042\u308b\u5834\u5408\u3001\u8aa4\u56a5\u6027\u80ba\u708e\u3092\u4e88\u9632\u3059\u308b\u305f\u3081\u306e\u98df\u4e8b\u5f62\u614b\u306e\u5de5\u592b\u3084\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u305f\u7d4c\u7ba1\u6804\u990a\u306e\u691c\u8a0e\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\u30fb\u8eab\u4f53\u7684\u72b6\u6cc1\u306b\u5408\u308f\u305b\u305f\u7279\u5225\u652f\u63f4\u6559\u80b2\u3002<\/li>\n\n\n\n<li>\u8eca\u6905\u5b50\u3001\u88c5\u5177\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u30c4\u30fc\u30eb\u306a\u3069\u306e\u74b0\u5883\u6574\u5099\u3002<\/li>\n\n\n\n<li>\u5bb6\u65cf\u306b\u5bfe\u3059\u308b\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3068\u30d4\u30a2\u30b5\u30dd\u30fc\u30c8\uff08\u5bb6\u65cf\u4f1a\uff09\u306e\u7d39\u4ecb\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> \u6b20\u5931\u578b\u306ePMD\u306f\u3001\u907a\u4f1d\u5b50\u91cd\u8907\u578b\u306b\u6bd4\u3079\u308b\u3068\u9032\u884c\u304c\u6bd4\u8f03\u7684\u7de9\u3084\u304b\u3067\u3042\u308b\u3068\u3044\u3046\u5831\u544a\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u80ba\u708e\u3084\u547c\u5438\u4e0d\u5168\u306a\u3069\u306e\u5408\u4f75\u75c7\u7ba1\u7406\u304c\u5bff\u547d\u3092\u5de6\u53f3\u3057\u307e\u3059\u3002<\/li>\n\n\n\n<li><strong>\u751f\u6d3b\u306e\u8cea:<\/strong> \u904b\u52d5\u6a5f\u80fd\u306e\u5236\u7d04\u306f\u5927\u304d\u3044\u3082\u306e\u306e\u3001\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u80fd\u529b\u3084\u7406\u89e3\u529b\u304c\u3042\u308b\u7a0b\u5ea6\u7dad\u6301\u3055\u308c\u308b\u75c7\u4f8b\u3082\u591a\u3044\u305f\u3081\u3001\u65e9\u671f\u304b\u3089\u306e\u9069\u5207\u306a\u652f\u63f4\u304cQOL\u3092\u9ad8\u3081\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>Xq22.2 deletion syndrome\uff08Xq22.2\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u306f\u3001X\u67d3\u8272\u4f53\u306b\u3042\u308b\u300cPLP1\u300d\u3068\u3044\u3046\u3001\u8133\u306e\u795e\u7d4c\u3092\u5b88\u308b\u305f\u3081\u306e\u5927\u5207\u306a\u300c\u30ab\u30d0\u30fc\uff08\u30df\u30a8\u30ea\u30f3\uff09\u300d\u3092\u4f5c\u308b\u8a2d\u8a08\u56f3\uff08\u907a\u4f1d\u5b50\uff09\u304c\u5931\u308f\u308c\u3066\u3057\u307e\u3046\uff08\u5fae\u5c0f\u6b20\u5931\uff09\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u4e3b\u306a\u7279\u5fb4\u3068\u3057\u3066\u3001\u8d64\u3061\u3083\u3093\u306e\u9803\u304b\u3089\u76ee\u304c\u63fa\u308c\u308b\uff08\u773c\u632f\uff09\u3001\u4f53\u304c\u67d4\u3089\u304b\u3059\u304e\u308b\u3001\u3042\u308b\u3044\u306f\u6210\u9577\u3068\u3068\u3082\u306b\u624b\u8db3\u304c\u7a81\u3063\u5f35\u308b\u3068\u3044\u3063\u305f\u795e\u7d4c\u306e\u75c7\u72b6\u304c\u73fe\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8a3a\u65ad\u306b\u306f\u982d\u90e8MRI\u3067\u306e\u300c\u30df\u30a8\u30ea\u30f3\u306e\u672a\u719f\u3055\u300d\u306e\u78ba\u8a8d\u3084\u3001\u7cbe\u5bc6\u306a\u907a\u4f1d\u5b50\u691c\u67fb\u304c\u6b20\u304b\u305b\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u307e\u3060\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u65e9\u304f\u304b\u3089\u30ea\u30cf\u30d3\u30ea\u3092\u59cb\u3081\u3001\u304a\u5b50\u69d8\u306e\u30da\u30fc\u30b9\u306b\u5408\u308f\u305b\u305f\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u65b9\u6cd5\u3092\u898b\u3064\u3051\u308b\u3053\u3068\u3067\u3001\u8c4a\u304b\u306a\u6bce\u65e5\u3092\u904e\u3054\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u5c0f\u5150\u795e\u7d4c\u79d1\u3001\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\u3001\u7642\u80b2\u30bb\u30f3\u30bf\u30fc\u306a\u3069\u306e\u5c02\u9580\u5bb6\u304c\u30c1\u30fc\u30e0\u3068\u306a\u308a\u3001\u304a\u5b50\u69d8\u306e\u6b69\u5e45\u306b\u5408\u308f\u305b\u305f\u6210\u9577\u3092\u3001\u9577\u304f\u6e29\u304b\u304f\u652f\u3048\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>Pelizaeus, F.<\/strong> (1885). <em>\u00dcber eine eigenth\u00fcmliche Form spastischer L\u00e4hmung mit Cerebralerscheinungen auf heredit\u00e4rer Grundlage.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u30da\u30ea\u30c4\u30a7\u30a6\u30b9\u535a\u58eb\u306b\u3088\u308b\u6700\u521d\u306e\u75c7\u4f8b\u5831\u544a\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Merzbacher, L.<\/strong> (1910). <em>Eine eigenartige famili\u00e4r-heredit\u00e4re Erkrankungsform.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08\u30e1\u30eb\u30c4\u30d0\u30c3\u30cf\u535a\u58eb\u306b\u3088\u308b\u75c5\u7406\u5b66\u7684\u691c\u8a0e\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Inoue, K.<\/strong> (2005). <em>PLP1-related inherited dysmyelinating diseases: Pelizaeus-Merzbacher disease and spastic paraplegia type 2.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08PLP1\u95a2\u9023\u75be\u60a3\u306e\u5206\u5b50\u30e1\u30ab\u30cb\u30ba\u30e0\u3068\u6b20\u5931\u578bPMD\u306e\u7279\u5fb4\u3092\u8a18\u8ff0\u3057\u305f\u91cd\u8981\u8ad6\u6587\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>GeneReviews\u00ae [Internet]<\/strong>: <em>Pelizaeus-Merzbacher Disease<\/em>. (NCBI).\n<ul class=\"wp-block-list\">\n<li>\uff08PMD\u306e\u8a3a\u65ad\u30fb\u7ba1\u7406\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u306b\u95a2\u3059\u308b\u4e16\u754c\u7684\u6a19\u6e96\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Unique (The Rare Chromosome Disorder Support Group)<\/strong>: <em>Xq22.2 microdeletions: A guide for families<\/em>.\n<ul class=\"wp-block-list\">\n<li>\uff08\u5e0c\u5c11\u67d3\u8272\u4f53\u7570\u5e38\u652f\u63f4\u56e3\u4f53\u306b\u3088\u308b\u3001\u5bb6\u65cf\u5411\u3051\u306e\u5b9f\u8df5\u7684\u304b\u3064\u6e29\u304b\u3044\u30ac\u30a4\u30c9\u8cc7\u6599\u3002\uff09<\/li>\n<\/ul>\n<\/li>\n\n\n\n<li><strong>Cailloux, F., et al.<\/strong> (2000). <em>Genotype-phenotype correlation in Pelizaeus-Merzbacher disease.<\/em>\n<ul class=\"wp-block-list\">\n<li>\uff08PLP1\u306e\u91cd\u8907\u3001\u70b9\u5909\u7570\u3001\u6b20\u5931\u306e\u305d\u308c\u305e\u308c\u306e\u81e8\u5e8a\u50cf\u3092\u6bd4\u8f03\u5206\u6790\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-17562","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\/17562","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\/17562\/revisions"}],"predecessor-version":[{"id":17564,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/17562\/revisions\/17564"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=17562"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}