{"id":121679,"date":"2026-01-07T15:58:19","date_gmt":"2026-01-07T06:58:19","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=121679"},"modified":"2026-07-24T05:18:32","modified_gmt":"2026-07-23T20:18:32","slug":"chromosome-7q-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/","title":{"rendered":"7\u756a\u67d3\u8272\u4f53\u9577\u8155\u6b20\u5931\u75c7\u5019\u7fa4\uff087q\u6b20\u5931\uff09"},"content":{"rendered":"\n<p><strong>\u304a\u5b50\u3055\u3093\u304c\u300c7q\u6b20\u5931\uff087\u756a\u67d3\u8272\u4f53\u9577\u8155\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u300d\u3068\u8a3a\u65ad\u3055\u308c\u3001\u76ee\u306e\u524d\u304c\u771f\u3063\u767d\u306b\u306a\u3063\u3066\u3044\u308b\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<p><strong>\u7d50\u8ad6\u304b\u3089\u304a\u4f1d\u3048\u3057\u307e\u3059\u30027q\u6b20\u5931\u306f\u30017\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\uff09\u306e\u4e00\u90e8\u304c\u751f\u307e\u308c\u3064\u304d\u5931\u308f\u308c\u3066\u3044\u308b\u3001\u975e\u5e38\u306b\u7a00\u306a\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/strong>\u6b20\u3051\u3066\u3044\u308b\u5834\u6240\u3068\u7bc4\u56f2\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u300c7q\u6b20\u5931\u300d\u3068\u3044\u3046\u540c\u3058\u8a3a\u65ad\u540d\u3067\u3082\u3001\u304a\u5b50\u3055\u3093\u3054\u3068\u306b\u73fe\u308c\u308b\u7279\u5fb4\u306f\u307e\u3063\u305f\u304f\u9055\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u8a18\u4e8b\u3067\u306f\u30017q\u6b20\u5931\u306e\u57fa\u672c\u7684\u306a\u4ed5\u7d44\u307f\u304b\u3089\u3001\u6b20\u5931\u90e8\u4f4d\u3054\u3068\u306b\u7570\u306a\u308b\u75c7\u72b6\uff087q11.23\u30fb7q21\u30fb7q31\u30fb7q36\uff09\u3001\u539f\u56e0\u3001\u8a3a\u65ad\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3068\u306e\u95a2\u4fc2\u3001\u6cbb\u7642\u3068\u30b5\u30dd\u30fc\u30c8\u3001\u3054\u5bb6\u65cf\u306e\u76f8\u8ac7\u5148\u307e\u3067\u3092\u6574\u7406\u3057\u307e\u3059\u3002\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff08NIH\uff09\u306eGARD\u3001GeneReviews\u3001\u56fd\u969b\u7684\u306a\u67d3\u8272\u4f53\u75be\u60a3\u652f\u63f4\u56e3\u4f53Unique\u306a\u3069\u306e\u516c\u7684\u30fb\u5b66\u8853\u60c5\u5831\u306b\u3082\u3068\u3065\u3044\u3066\u304a\u4f1d\u3048\u3057\u307e\u3059\u3002\u65ad\u7247\u7684\u306a\u60c5\u5831\u306b\u632f\u308a\u56de\u3055\u308c\u305a\u3001\u4e00\u3064\u305a\u3064\u78ba\u8a8d\u3057\u3066\u3044\u304d\u307e\u3057\u3087\u3046\u3002<\/p>\n\n\n\n<div class=\"info-box\" style=\"margin:1.5em 0;padding:1.2em 1.4em;background:#f3f8ff;border-left:5px solid #5b9bd5;border-radius:8px;\">\n<p style=\"font-weight:bold;margin-bottom:0.6em;\">\ud83d\udca1 \u3053\u306e\u8a18\u4e8b\u3067\u308f\u304b\u308b\u3053\u3068<\/p>\n<ul style=\"margin:0;padding-left:1.2em;\">\n<li>7q\u6b20\u5931\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u67d3\u8272\u4f53\u306e\u5909\u5316\u3067\u3001\u306a\u305c\u75c7\u72b6\u306e\u5e45\u304c\u5927\u304d\u3044\u306e\u304b<\/li>\n<li>\u6b20\u5931\u90e8\u4f4d\uff087q11.23\u30fb7q21\u30fb7q31\u30fb7q36\uff09\u3054\u3068\u306b\u7570\u306a\u308b\u4ee3\u8868\u7684\u306a\u75c7\u72b6<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\u306a\u3069\u3001\u3088\u304f\u77e5\u3089\u308c\u308b\u75c5\u6c17\u3068\u306e\u95a2\u4fc2\u3068\u9055\u3044<\/li>\n<li>\u539f\u56e0\uff08\u30c7\u30ce\u30dc\u5909\u7570\u3068\u5747\u8861\u578b\u8ee2\u5ea7\uff09\u3068\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u5f71\u97ff\u306e\u8003\u3048\u65b9<\/li>\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fbNIPT\u3067\u3053\u306e\u75c5\u6c17\u304c\u5bfe\u8c61\u306b\u306a\u308b\u30b1\u30fc\u30b9\u3068\u306a\u3089\u306a\u3044\u30b1\u30fc\u30b9<\/li>\n<li>\u8a3a\u65ad\u5f8c\u306e\u6cbb\u7642\u65b9\u91dd\u3068\u3054\u5bb6\u65cf\u304c\u983c\u308c\u308b\u76f8\u8ac7\u5148<\/li>\n<\/ul>\n<\/div>\n\n\n\n\n\n\n<div id=\"ez-toc-container\" class=\"ez-toc-v2_0_86 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 9.3l-6.2-6.3-6.2 6.3c-.2.2-.3.4-.3.7s.1.5.3.7c.2.2.4.3.7.3h11c.3 0 .5-.1.7-.3.2-.2.3-.5.3-.7s-.1-.5-.3-.7zM5.8 14.7l6.2 6.3 6.2-6.3c.2-.2.3-.5.3-.7s-.1-.5-.3-.7c-.2-.2-.4-.3-.7-.3h-11c-.3 0-.5.1-.7.3-.2.2-.3.5-.3.7s.1.5.3.7z\"\/><\/svg><\/span><\/span><\/span><\/a><\/span><\/div>\n<nav><ul class='ez-toc-list ez-toc-list-level-1 ' ><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-1\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#1_7q%E6%AC%A0%E5%A4%B1%EF%BC%887%E7%95%AA%E6%9F%93%E8%89%B2%E4%BD%93%E9%95%B7%E8%85%95%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%81%A8%E3%81%AF\" >1. 7q\u6b20\u5931\uff087\u756a\u67d3\u8272\u4f53\u9577\u8155\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u3068\u306f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-2\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#%E6%9C%AB%E7%AB%AF%E6%AC%A0%E5%A4%B1%E3%81%A8%E9%96%93%E8%B3%AA%E6%80%A7%E6%AC%A0%E5%A4%B1\" >\u672b\u7aef\u6b20\u5931\u3068\u9593\u8cea\u6027\u6b20\u5931<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%A8%E7%89%B9%E5%BE%B4\" >2. 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href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#7q36%E6%AC%A0%E5%A4%B1%EF%BC%9A%E8%84%B3%E3%81%AE%E6%AD%A3%E4%B8%AD%E5%BD%A2%E6%88%90%E3%81%AB%E9%96%A2%E3%82%8F%E3%82%8BSHH%E9%81%BA%E4%BC%9D%E5%AD%90\" >7q36\u6b20\u5931\uff1a\u8133\u306e\u6b63\u4e2d\u5f62\u6210\u306b\u95a2\u308f\u308bSHH\u907a\u4f1d\u5b50<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#4_%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B\" >4. \u539f\u56e0\uff1a\u306a\u305c\u8d77\u3053\u308b\u306e\u304b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%E5%A4%89%E7%95%B0%EF%BC%89\" 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\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#6_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\" >6. \u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#7_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E5%81%A5%E3%82%84%E3%81%8B%E3%81%AA%E6%88%90%E9%95%B7%E3%82%92%E6%94%AF%E3%81%88%E3%82%8B%E3%81%9F%E3%82%81%E3%81%AB\" >7. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u652f\u3048\u308b\u305f\u3081\u306b<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%81%AB%E3%82%88%E3%82%8B%E9%80%A3%E6%90%BA%E3%83%81%E3%83%BC%E3%83%A0\" >\u591a\u8077\u7a2e\u306b\u3088\u308b\u9023\u643a\u30c1\u30fc\u30e0<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%EF%BC%88%E7%99%82%E8%82%B2%EF%BC%89%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\" >\u767a\u9054\u652f\u63f4\uff08\u7642\u80b2\uff09\u306e\u91cd\u8981\u6027<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#8_%E4%BA%88%E5%BE%8C%E3%81%A8%E8%A6%8B%E9%80%9A%E3%81%97\" >8. \u4e88\u5f8c\u3068\u898b\u901a\u3057<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#9_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8%E3%81%A8%E7%9B%B8%E8%AB%87%E5%85%88\" >9. \u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\u3068\u76f8\u8ac7\u5148<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\" >\u3088\u304f\u3042\u308b\u8cea\u554f<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#7q%E6%AC%A0%E5%A4%B1%EF%BC%887%E7%95%AA%E6%9F%93%E8%89%B2%E4%BD%93%E9%95%B7%E8%85%95%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >7q\u6b20\u5931\uff087\u756a\u67d3\u8272\u4f53\u9577\u8155\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#%E3%82%A6%E3%82%A3%E3%83%AA%E3%82%A2%E3%83%A0%E3%82%BA%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A87q%E6%AC%A0%E5%A4%B1%E3%81%AF%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\" >\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u30687q\u6b20\u5931\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#7q%E6%AC%A0%E5%A4%B1%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >7q\u6b20\u5931\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#%E9%81%BA%E4%BC%9D%E6%80%A7%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u304b\u3002\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%A7%E8%A8%BA%E6%96%AD%E3%81%8C%E7%A2%BA%E5%AE%9A%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u307e\u3059\u304b\u3002<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-7q-deletion-syndrome\/#%E7%9B%B8%E8%AB%87%E3%81%A7%E3%81%8D%E3%82%8B%E6%94%AF%E6%8F%B4%E5%9B%A3%E4%BD%93%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\" >\u76f8\u8ac7\u3067\u304d\u308b\u652f\u63f4\u56e3\u4f53\u306f\u3042\u308a\u307e\u3059\u304b\u3002<\/a><\/li><\/ul><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"1_7q%E6%AC%A0%E5%A4%B1%EF%BC%887%E7%95%AA%E6%9F%93%E8%89%B2%E4%BD%93%E9%95%B7%E8%85%95%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%81%A8%E3%81%AF\"><\/span><strong>1. 7q\u6b20\u5931\uff087\u756a\u67d3\u8272\u4f53\u9577\u8155\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u3068\u306f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>7q\u6b20\u5931\u3068\u306f\u30017\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\uff09\u306e\u4e00\u90e8\u304c\u751f\u307e\u308c\u3064\u304d\u5931\u308f\u308c\u3066\u3044\u308b\u72b6\u614b\u3092\u6307\u3057\u307e\u3059\u3002<\/strong>\u5931\u308f\u308c\u308b\u5834\u6240\u3084\u7bc4\u56f2\u306f\u4e00\u4eba\u3072\u3068\u308a\u7570\u306a\u308b\u305f\u3081\u3001\u533b\u5b66\u7684\u306b\u306f\u300c\u90e8\u5206\u30e2\u30ce\u30bd\u30df\u30fc7q\u300d\u3068\u3082\u547c\u3070\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u306e\u4f53\u306f\u7d0437\u5146\u500b\u306e\u7d30\u80de\u3067\u3067\u304d\u3066\u304a\u308a\u3001\u305d\u306e\u4e00\u3064\u3072\u3068\u3064\u306e\u6838\u306b\u3001\u4f53\u306e\u8a2d\u8a08\u56f3\u3067\u3042\u308b\u907a\u4f1d\u5b50\u3092\u675f\u306d\u305f<strong>\u67d3\u8272\u4f53<\/strong>\u304c\u53ce\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u30d2\u30c8\u306b\u306f23\u5bfe\uff0846\u672c\uff09\u306e\u67d3\u8272\u4f53\u304c\u3042\u308a\u3001\u4e2d\u5fc3\u306e\u304f\u3073\u308c\u3092\u5883\u306b\u77ed\u3044\u65b9\u3092\u300c\u77ed\u8155\uff08p\uff09\u300d\u3001\u9577\u3044\u65b9\u3092\u300c\u9577\u8155\uff08q\uff09\u300d\u3068\u547c\u3073\u307e\u3059\u30027q\u6b20\u5931\u306f\u3001\u3053\u306e7\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u5074\u3067\u8d77\u3053\u308b\u6b20\u5931\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9C%AB%E7%AB%AF%E6%AC%A0%E5%A4%B1%E3%81%A8%E9%96%93%E8%B3%AA%E6%80%A7%E6%AC%A0%E5%A4%B1\"><\/span><strong>\u672b\u7aef\u6b20\u5931\u3068\u9593\u8cea\u6027\u6b20\u5931<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7q\u6b20\u5931\u306f\u3001\u6b20\u3051\u308b\u4f4d\u7f6e\u306b\u3088\u3063\u3066\u5927\u304d\u304f2\u3064\u306b\u5206\u3051\u3089\u308c\u307e\u3059\u3002\u9593\u306b\u30ea\u30fc\u30c9\u6587\u3092\u631f\u3093\u3067\u6574\u7406\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u672b\u7aef\u6b20\u5931\uff08\u307e\u3063\u305f\u3093\u3051\u3063\u3057\u3064\uff09\uff1a \u67d3\u8272\u4f53\u306e\u5148\u7aef\uff08\u30c6\u30ed\u30e1\u30a2\u5074\uff09\u304c\u5931\u308f\u308c\u308b\u3082\u306e\u3002<\/li>\n\n\n<li>\u9593\u8cea\u6027\u6b20\u5931\uff08\u304b\u3093\u3057\u3064\u305b\u3044\u3051\u3063\u3057\u3064\uff09\uff1a \u67d3\u8272\u4f53\u306e\u9014\u4e2d\u306e\u90e8\u5206\u3060\u3051\u304c\u5931\u308f\u308c\u308b\u3082\u306e\u3002<\/li>\n<\/ul>\n\n\n\n<p>7\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\u306b\u306f\u3001\u8133\u306e\u767a\u9054\u30fb\u624b\u8db3\u306e\u5f62\u6210\u30fb\u8a00\u8449\u306e\u7fd2\u5f97\u30fb\u5185\u81d3\u306e\u50cd\u304d\u306b\u95a2\u308f\u308b\u591a\u304f\u306e\u907a\u4f1d\u5b50\u304c\u4e26\u3093\u3067\u3044\u307e\u3059\u3002<strong>\u305d\u306e\u305f\u3081\u300c\u3069\u306e\u5730\u70b9\u306e\u907a\u4f1d\u5b50\u304c\u5931\u308f\u308c\u305f\u304b\u300d\u306b\u3088\u3063\u3066\u3001\u73fe\u308c\u308b\u75c7\u72b6\u3084\u767a\u9054\u306e\u30da\u30fc\u30b9\u304c\u5927\u304d\u304f\u5909\u308f\u308b\u306e\u304c\u3001\u3053\u306e\u75be\u60a3\u6700\u5927\u306e\u7279\u5fb4\u3067\u3059\u3002<\/strong>\u7c73\u56fd\u56fd\u7acb\u885b\u751f\u7814\u7a76\u6240\uff08NIH\uff09\u304c\u904b\u55b6\u3059\u308b\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/18731\/distal-monosomy-7q36\" target=\"_blank\" rel=\"noopener\">GARD\uff08Genetic and Rare Diseases Information Center\uff09<\/a>\u3067\u3082\u3001\u6b20\u5931\u306e\u5927\u304d\u3055\u3068\u4f4d\u7f6e\u306b\u3088\u3063\u3066\u8868\u73fe\u578b\u304c\u5927\u304d\u304f\u7570\u306a\u308b\u3068\u8aac\u660e\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u65e5\u672c\u8a9e\u3067\u306e\u75c7\u4f8b\u5831\u544a\u306f\u307e\u3060\u5c11\u306a\u304f\u3001\u6b63\u78ba\u306a\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"2_%E4%B8%BB%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%A8%E7%89%B9%E5%BE%B4\"><\/span><strong>2. \u4e3b\u306a\u75c7\u72b6\u3068\u7279\u5fb4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>7q\u6b20\u5931\u3067\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u306e\u306f\u3001\u767a\u9054\u306e\u9045\u308c\u30fb\u7279\u5fb4\u7684\u306a\u9854\u7acb\u3061\u30fb\u624b\u8db3\u3084\u5185\u81d3\u306e\u5408\u4f75\u75c7\u3067\u3059\u3002<\/strong>\u305f\u3060\u3057\u3001\u3059\u3079\u3066\u306e\u4eba\u306b\u540c\u3058\u75c7\u72b6\u304c\u73fe\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<figure class=\"wp-table-block\"><table><thead><tr><th>\u9818\u57df\u30fb\u5206\u985e<\/th><th>\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u7279\u5fb4<\/th><\/tr><\/thead><tbody><tr><td>\u767a\u9054\u9762<\/td><td>\u904b\u52d5\u767a\u9054\uff08\u9996\u3059\u308f\u308a\u30fb\u304a\u5ea7\u308a\u30fb\u6b69\u884c\uff09\u306e\u9045\u308c\u3001\u77e5\u7684\u767a\u9054\u75c7\u3001\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c<\/td><\/tr><tr><td>\u9854\u7acb\u3061<\/td><td>\u8033\u306e\u4f4d\u7f6e\u30fb\u5f62\u306e\u9055\u3044\u3001\u773c\u9593\u89e3\u96e2\u3001\u524d\u982d\u90e8\u306e\u7a81\u51fa\u3001\u9f3b\u7b4b\u306e\u4f4e\u3055\u306a\u3069<\/td><\/tr><tr><td>\u624b\u8db3<\/td><td>\u591a\u6307\u75c7\u30fb\u5408\u6307\u75c7\u3001\u88c2\u624b\u30fb\u88c2\u8db3\u3001\u4e09\u7bc0\u6bcd\u6307\uff08\u6b20\u5931\u9818\u57df\u306b\u3088\u308b\uff09<\/td><\/tr><tr><td>\u5185\u81d3<\/td><td>\u5148\u5929\u6027\u5fc3\u75be\u60a3\u3001\u6ccc\u5c3f\u751f\u6b96\u5668\u306e\u5f62\u614b\u7570\u5e38\u3001\u6210\u9577\u30db\u30eb\u30e2\u30f3\u95a2\u9023\u306e\u6210\u9577\u969c\u5bb3<\/td><\/tr><\/tbody><\/table><\/figure>\n\n\n\n<p>\u767a\u9054\u9762\u3067\u306f\u3001\u7b4b\u8089\u306e\u5f35\u308a\u304c\u3084\u3084\u5f31\u3044\u300c\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u300d\u3092\u80cc\u666f\u306b\u3001\u904b\u52d5\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u9032\u3080\u304a\u5b50\u3055\u3093\u304c\u591a\u304f\u898b\u3089\u308c\u307e\u3059\u3002\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\u306f\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u3001\u591a\u304f\u306e\u5834\u5408\u3067\u5b66\u7fd2\u4e0a\u306e\u500b\u5225\u652f\u63f4\u304c\u5fc5\u8981\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u9854\u7acb\u3061\u306e\u7279\u5fb4\u306f\u3001\u3042\u304f\u307e\u3067\u8a3a\u65ad\u306e\u624b\u304c\u304b\u308a\u306e\u4e00\u3064\u3002<strong>\u304a\u5b50\u3055\u3093\u81ea\u8eab\u306e\u500b\u6027\u306e\u4e00\u90e8\u3067\u3082\u3042\u308b\u3053\u3068\u3092\u3001\u5fd8\u308c\u306a\u3044\u3067\u304f\u3060\u3055\u3044\u3002<\/strong>\u624b\u8db3\u3084\u5185\u81d3\u306e\u5408\u4f75\u75c7\u306f\u3001\u6b21\u7ae0\u3067\u8aac\u660e\u3059\u308b\u6b20\u5931\u90e8\u4f4d\u3068\u5f37\u304f\u95a2\u9023\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"3_%E6%AC%A0%E5%A4%B1%E9%83%A8%E4%BD%8D%E3%81%94%E3%81%A8%E3%81%AB%E7%95%B0%E3%81%AA%E3%82%8B%E7%97%87%E7%8A%B6%EF%BC%887q1123%E3%83%BB7q21%E3%83%BB7q31%E3%83%BB7q36%EF%BC%89\"><\/span><strong>3. \u6b20\u5931\u90e8\u4f4d\u3054\u3068\u306b\u7570\u306a\u308b\u75c7\u72b6\uff087q11.23\u30fb7q21\u30fb7q31\u30fb7q36\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>7q\u6b20\u5931\u306f\u3001\u6b20\u3051\u308b\u300c\u756a\u5730\u300d\u304c\u9055\u3046\u3060\u3051\u3067\u3001\u307e\u3063\u305f\u304f\u5225\u306e\u75c5\u6c17\u306e\u3088\u3046\u306b\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/strong>\u3053\u3053\u3067\u306f\u7279\u306b\u5831\u544a\u304c\u591a\u30444\u3064\u306e\u9818\u57df\u3092\u89e3\u8aac\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7q1123%E6%AC%A0%E5%A4%B1%EF%BC%88%E8%BF%91%E4%BD%8D%EF%BC%89%EF%BC%9A%E3%82%A6%E3%82%A3%E3%83%AA%E3%82%A2%E3%83%A0%E3%82%BA%E7%97%87%E5%80%99%E7%BE%A4\"><\/span><strong>7q11.23\u6b20\u5931\uff08\u8fd1\u4f4d\uff09\uff1a\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7q\u6b20\u5931\u306e\u4e2d\u3067\u3082\u3001\u6700\u3082\u3088\u304f\u77e5\u3089\u308c\u3066\u3044\u308b\u306e\u304c7q11.23\u9818\u57df\u306e\u4e2d\u5fc3\u5074\uff08\u8fd1\u4f4d\uff09\u304c\u6b20\u3051\u308b\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\u300d\u3067\u3059\u3002\u30a8\u30e9\u30b9\u30c1\u30f3\u907a\u4f1d\u5b50\uff08ELN\uff09\u3092\u542b\u3080\u7d041.5\u301c1.8Mb\u306e\u6b20\u5931\u3067\u8d77\u3053\u308a\u3001\u5fc3\u8840\u7ba1\u7cfb\u306e\u7279\u5fb4\uff08\u5927\u52d5\u8108\u5f01\u4e0a\u72ed\u7a84\u306a\u3069\uff09\u3001\u72ec\u7279\u306e\u9854\u7acb\u3061\u3001\u975e\u5e38\u306b\u793e\u4ea4\u7684\u306a\u6027\u683c\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002<a href=\"https:\/\/www.nanbyou.or.jp\/entry\/4765\" target=\"_blank\" rel=\"noopener\">\u96e3\u75c5\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>\u3067\u306f\u3001\u6307\u5b9a\u96e3\u75c5\u3068\u3057\u3066<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\u306e\u8a73\u3057\u3044\u89e3\u8aac\u304c\u516c\u958b\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u540c\u30587q11.23\u9818\u57df\u3067\u3082\u3001\u672b\u7aef\u5074\uff08\u9060\u4f4d\uff09\u304c\u6b20\u3051\u308b\u300c7q11.23\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u9060\u4f4d\uff09\u300d\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\u3068\u306f<strong>\u5225\u306e\u75c5\u6c17<\/strong>\u3067\u3059\u3002\u3066\u3093\u304b\u3093\u3084\u767a\u9054\u30fb\u884c\u52d5\u9762\u306e\u7279\u6027\u304c\u4e2d\u5fc3\u3067\u3001\u5fc3\u75be\u60a3\u3084\u72ec\u7279\u306e\u9854\u7acb\u3061\u306f\u5fc5\u9808\u306e\u6240\u898b\u3068\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u8a73\u3057\u304f\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/7q11-23-deletion-distal-syndrome\/\">7q11.23\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u9060\u4f4d\uff09\u306e\u89e3\u8aac\u8a18\u4e8b<\/a>\u3092\u3054\u89a7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7q21%E6%AC%A0%E5%A4%B1%EF%BC%9A%E6%89%8B%E8%B6%B3%E3%81%AE%E5%BD%A2%E6%88%90%E3%81%AB%E9%96%A2%E3%82%8F%E3%82%8B%E9%A0%98%E5%9F%9F\"><\/span><strong>7q21\u6b20\u5931\uff1a\u624b\u8db3\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b\u9818\u57df<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7q21.3\u9818\u57df\u306b\u306f\u3001\u624b\u8db3\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b<strong>DLX5\u30fbDLX6<\/strong>\u3068\u3044\u3046\u907a\u4f1d\u5b50\u304c\u5b58\u5728\u3057\u307e\u3059\u3002\u3053\u306e\u5468\u8fba\u304c\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u3068\u3001\u624b\u3084\u8db3\u306e\u4e2d\u592e\u90e8\u5206\u304c\u6b20\u3051\u3066V\u5b57\u578b\u306b\u898b\u3048\u308b\u300c\u88c2\u624b\u30fb\u88c2\u8db3\u5947\u5f62\uff08split-hand\/foot malformation, SHFM1\uff09\u300d\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u96e3\u8074\u3084\u77e5\u7684\u767a\u9054\u75c7\u3092\u4f34\u3046\u30b1\u30fc\u30b9\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u56fd\u969b\u7684\u306a\u67d3\u8272\u4f53\u75be\u60a3\u652f\u63f4\u56e3\u4f53<a href=\"https:\/\/rarechromo.org\/media\/information\/Chromosome%20%207\/7q%20deletions%20between%207q21%20and%207q32%20FTNW.pdf\" target=\"_blank\" rel=\"noopener\">Unique\uff08Rare Chromosome Disorder Support Group\uff09<\/a>\u306e\u89e3\u8aac\u8cc7\u6599\u3067\u3082\u30017q21\u301c7q32\u306e\u6b20\u5931\u3067\u88c2\u624b\u30fb\u88c2\u8db3\u304c\u307f\u3089\u308c\u308b\u5bb6\u7cfb\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<strong>\u6d78\u900f\u7387\uff08\u75c7\u72b6\u3068\u3057\u3066\u73fe\u308c\u308b\u5272\u5408\uff09\u306f\u4e00\u5b9a\u3067\u306a\u304f\u3001\u540c\u3058\u6b20\u5931\u304c\u3042\u3063\u3066\u3082\u75c7\u72b6\u304c\u307b\u3068\u3093\u3069\u51fa\u306a\u3044\u65b9\u3082\u3044\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7q31%E6%AC%A0%E5%A4%B1%EF%BC%9A%E8%A8%80%E8%AA%9E%E7%99%BA%E9%81%94%E3%81%AB%E9%96%A2%E3%82%8F%E3%82%8BFOXP2%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span><strong>7q31\u6b20\u5931\uff1a\u8a00\u8a9e\u767a\u9054\u306b\u95a2\u308f\u308bFOXP2\u907a\u4f1d\u5b50<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7q31\u9818\u57df\u306b\u306f\u3001\u8a00\u8449\u306e\u7fd2\u5f97\u306b\u91cd\u8981\u306a<strong>FOXP2\u907a\u4f1d\u5b50<\/strong>\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u3053\u304c\u6b20\u5931\u3059\u308b\u3068\u3001\u767a\u8a71\u306e\u904b\u52d5\u30d7\u30ed\u30b0\u30e9\u30df\u30f3\u30b0\u304c\u3046\u307e\u304f\u3044\u304b\u306a\u3044\u300c\u5c0f\u5150\u671f\u767a\u8a9e\u5931\u884c\uff08childhood apraxia of speech\uff09\u300d\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u8a00\u8a9e\u969c\u5bb3\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u77e5\u7684\u767a\u9054\u306f\u4fdd\u305f\u308c\u308b\u30b1\u30fc\u30b9\u3082\u591a\u304f\u3001\u75c7\u72b6\u306f\u8a00\u8a9e\u9762\u306b\u5f37\u304f\u73fe\u308c\u308b\u50be\u5411\u304c\u3042\u308a\u307e\u3059\u3002\u8a73\u3057\u3044\u81e8\u5e8a\u50cf\u306f<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK368474\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\u300cFOXP2\u95a2\u9023\u306e\u767a\u8a71\u30fb\u8a00\u8a9e\u969c\u5bb3\u300d<\/a>\u3067\u89e3\u8aac\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7q36%E6%AC%A0%E5%A4%B1%EF%BC%9A%E8%84%B3%E3%81%AE%E6%AD%A3%E4%B8%AD%E5%BD%A2%E6%88%90%E3%81%AB%E9%96%A2%E3%82%8F%E3%82%8BSHH%E9%81%BA%E4%BC%9D%E5%AD%90\"><\/span><strong>7q36\u6b20\u5931\uff1a\u8133\u306e\u6b63\u4e2d\u5f62\u6210\u306b\u95a2\u308f\u308bSHH\u907a\u4f1d\u5b50<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u9577\u8155\u306e\u672b\u7aef\u306b\u8fd1\u30447q36\u9818\u57df\u306b\u306f\u3001\u8133\u3084\u9854\u306e\u4e2d\u5fc3\u90e8\u306e\u5f62\u6210\u306b\u95a2\u308f\u308b<strong>SHH\uff08\u30bd\u30cb\u30c3\u30af\u30fb\u30d8\u30c3\u30b8\u30db\u30c3\u30b0\uff09\u907a\u4f1d\u5b50<\/strong>\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u3053\u304c\u5931\u308f\u308c\u308b\u3068\u3001\u5de6\u53f3\u306e\u5927\u8133\u534a\u7403\u304c\u3046\u307e\u304f\u5206\u304b\u308c\u306a\u3044\u300c\u5168\u524d\u8133\u80de\u75c7\uff08holoprosencephaly\uff09\u300d\u304c\u8d77\u3053\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u75c7\u72b6\u306e\u91cd\u3055\u306f\u3001\u6b63\u4e2d\u306e\u5207\u6b6f\u304c1\u672c\u3060\u3051\u306e\u8efd\u5ea6\u306a\u3082\u306e\u304b\u3089\u3001\u8133\u3084\u9854\u306e\u6b63\u4e2d\u69cb\u9020\u306b\u5927\u304d\u306a\u5f71\u97ff\u304c\u53ca\u3076\u3082\u306e\u307e\u3067\u5e45\u5e83\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u8a73\u3057\u304f\u306f<a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1530\/\" target=\"_blank\" rel=\"noopener\">GeneReviews\u300c\u5168\u524d\u8133\u80de\u75c7\u306e\u6982\u8981\u300d<\/a>\u3067\u89e3\u8aac\u3055\u308c\u3066\u3044\u307e\u3059\u3002GARD\u306e<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/18731\/distal-monosomy-7q36\" target=\"_blank\" rel=\"noopener\">\u9060\u4f4d\u30e2\u30ce\u30bd\u30df\u30fc7q36\u306e\u89e3\u8aac<\/a>\u3067\u306f\u3001\u5168\u524d\u8133\u80de\u75c7\u306e\u307b\u304b\u3001\u6210\u9577\u969c\u5bb3\u30fb\u767a\u9054\u306e\u9045\u308c\u30fb\u9854\u9762\u306e\u5f62\u614b\u7570\u5e38\u30fb\u773c\u306e\u7570\u5e38\u306a\u3069\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u30017q\u6b20\u5931\u306f<strong>\u300c\u540c\u3058\u67d3\u8272\u4f53\u306e\u9577\u8155\u300d\u3068\u3044\u3046\u5171\u901a\u70b9\u306f\u3042\u3063\u3066\u3082\u3001\u6b20\u3051\u308b\u756a\u5730\u306b\u3088\u3063\u3066\u73fe\u308c\u308b\u75c5\u6c17\u306e\u9854\u3064\u304d\u304c\u307e\u3063\u305f\u304f\u9055\u3044\u307e\u3059\u3002<\/strong>\u304a\u5b50\u3055\u3093\u306e\u8a3a\u65ad\u66f8\u306b\u8a18\u8f09\u3055\u308c\u305f\u6b20\u5931\u7bc4\u56f2\u3092\u3001\u62c5\u5f53\u306e\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\u3068\u4e00\u7dd2\u306b\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u3001\u898b\u901a\u3057\u3092\u7acb\u3066\u308b\u7b2c\u4e00\u6b69\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"4_%E5%8E%9F%E5%9B%A0%EF%BC%9A%E3%81%AA%E3%81%9C%E8%B5%B7%E3%81%93%E3%82%8B%E3%81%AE%E3%81%8B\"><\/span><strong>4. \u539f\u56e0\uff1a\u306a\u305c\u8d77\u3053\u308b\u306e\u304b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>7q\u6b20\u5931\u306e\u591a\u304f\u306f\u5076\u767a\u7684\u306a\u7a81\u7136\u5909\u7570\uff08\u30c7\u30ce\u30dc\uff09\u3067\u751f\u3058\u3001\u3054\u4e21\u89aa\u306e\u884c\u52d5\u3084\u751f\u6d3b\u7fd2\u6163\u304c\u539f\u56e0\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AA%81%E7%84%B6%E5%A4%89%E7%95%B0%EF%BC%88de_novo%E5%A4%89%E7%95%B0%EF%BC%89\"><\/span><strong>\u7a81\u7136\u5909\u7570\uff08de novo\u5909\u7570\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7q\u6b20\u5931\u306e\u591a\u304f\u306f\u3001\u7cbe\u5b50\u3084\u5375\u5b50\u304c\u4f5c\u3089\u308c\u308b\u904e\u7a0b\u3001\u3042\u308b\u3044\u306f\u53d7\u7cbe\u5375\u304c\u7d30\u80de\u5206\u88c2\u3092\u7e70\u308a\u8fd4\u3059\u521d\u671f\u6bb5\u968e\u3067\u3001\u5076\u767a\u7684\u306b\u767a\u751f\u3057\u307e\u3059\u3002\u3053\u308c\u3092\u5c02\u9580\u7528\u8a9e\u3067<strong>de novo\uff08\u30c7\u30fb\u30ce\u30dc\uff09\u5909\u7570<\/strong>\u3068\u547c\u3073\u307e\u3059\u3002\u3054\u4e21\u89aa\u306e\u5e74\u9f62\u3001\u98df\u3079\u7269\u3001\u85ac\u306e\u670d\u7528\u3001\u30b9\u30c8\u30ec\u30b9\u306a\u3069\u304c\u539f\u56e0\u3067\u8d77\u3053\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3054\u81ea\u8eab\u3092\u8cac\u3081\u308b\u5fc5\u8981\u306f\u307e\u3063\u305f\u304f\u306a\u3044\u306e\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%9D%87%E8%A1%A1%E5%9E%8B%E8%BB%A2%E5%BA%A7%E3%81%AE%E4%BF%9D%E6%8C%81%EF%BC%88%E7%A8%80%E3%81%AA%E3%82%B1%E3%83%BC%E3%82%B9%EF%BC%89\"><\/span><strong>\u5747\u8861\u578b\u8ee2\u5ea7\u306e\u4fdd\u6301\uff08\u7a00\u306a\u30b1\u30fc\u30b9\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u304f\u7a00\u306b\u3001\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u300c\u5747\u8861\u578b\u8ee2\u5ea7\u300d\u3068\u3044\u3046\u72b6\u614b\u3092\u6301\u3063\u3066\u3044\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u304c\u5165\u308c\u66ff\u308f\u3063\u3066\u3044\u308b\u3082\u306e\u306e\u3001\u907a\u4f1d\u60c5\u5831\u306e\u7dcf\u91cf\u306b\u904e\u4e0d\u8db3\u304c\u306a\u3044\u72b6\u614b\u3067\u3059\u3002\u3054\u672c\u4eba\u306b\u306f\u75c7\u72b6\u304c\u51fa\u307e\u305b\u3093\u304c\u3001\u6b21\u306e\u304a\u5b50\u3055\u3093\u306b\u53d7\u3051\u7d99\u304c\u308c\u308b\u969b\u3001\u4e00\u90e8\u304c\u4e0d\u5747\u8861\uff08\u6b20\u5931\u3084\u91cd\u8907\uff09\u306a\u5f62\u3067\u4f1d\u308f\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4e00\u90e8\u306e\u6b20\u5931\uff08\u524d\u8ff0\u306e7q21\u9818\u57df\u306eSHFM1\u306a\u3069\uff09\u306f\u3001<strong>\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\uff08\u6d78\u900f\u7387\u304c\u4f4e\u3044\u30bf\u30a4\u30d7\uff09<\/strong>\u306e\u5f62\u5f0f\u3092\u3068\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u540c\u3058\u6b20\u5931\u3092\u6301\u3064\u5bb6\u65cf\u5185\u3067\u3082\u3001\u75c7\u72b6\u306e\u6709\u7121\u3084\u91cd\u3055\u304c\u4eba\u306b\u3088\u3063\u3066\u7570\u306a\u308b\u70b9\u304c\u7279\u5fb4\u3067\u3059\u3002\u6b21\u306e\u304a\u5b50\u3055\u3093\u3078\u306e\u5f71\u97ff\u304c\u6c17\u306b\u306a\u308b\u5834\u5408\u306f\u3001\u4e21\u89aa\u306e\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3068\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u81ea\u8eab\u3001\u5916\u6765\u3067\u3053\u3046\u3057\u305f\u5e0c\u5c11\u306a\u67d3\u8272\u4f53\u75be\u60a3\u306e\u304a\u5b50\u3055\u307e\u3092\u6301\u3064\u3054\u5bb6\u65cf\u304b\u3089\u3001\u6b21\u5b50\u306b\u3064\u3044\u3066\u76f8\u8ac7\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3054\u4e21\u89aa\u306e\u691c\u67fb\u7d50\u679c\u304c\u5206\u304b\u308b\u3060\u3051\u3067\u3082\u3001\u6b21\u306e\u598a\u5a20\u306b\u5411\u3051\u305f\u898b\u901a\u3057\u3092\u7acb\u3066\u3084\u3059\u304f\u306a\u308b\u3068\u611f\u3058\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"5_%E8%A8%BA%E6%96%AD%E3%81%A8%E6%A4%9C%E6%9F%BB\"><\/span><strong>5. \u8a3a\u65ad\u3068\u691c\u67fb<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u8a3a\u65ad\u306f\u3001\u81e8\u5e8a\u7684\u306a\u75c7\u72b6\u306e\u78ba\u8a8d\u3068\u3001\u7cbe\u5bc6\u306a\u67d3\u8272\u4f53\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u3066\u884c\u308f\u308c\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A0_%E6%9F%93%E8%89%B2%E4%BD%93%E5%88%86%E6%9F%93%E6%B3%95%EF%BC%88G-%E3%83%90%E3%83%B3%E3%83%89%E6%B3%95%EF%BC%89\"><\/span><strong>\u2460 \u67d3\u8272\u4f53\u5206\u67d3\u6cd5\uff08G-\u30d0\u30f3\u30c9\u6cd5\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u8840\u6db2\u4e2d\u306e\u7d30\u80de\u3092\u57f9\u990a\u3057\u3001\u9855\u5fae\u93e1\u3067\u67d3\u8272\u4f53\u306e\u6570\u3084\u5927\u307e\u304b\u306a\u5f62\u3092\u78ba\u8a8d\u3057\u307e\u3059\u3002\u6bd4\u8f03\u7684\u5927\u304d\u306a\u6b20\u5931\u3067\u3042\u308c\u3070\u3001\u3053\u306e\u691c\u67fb\u3067\u898b\u3064\u3051\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A1_FISH%EF%BC%88%E3%83%95%E3%82%A3%E3%83%83%E3%82%B7%E3%83%A5%EF%BC%89%E6%B3%95\"><\/span><strong>\u2461 FISH\uff08\u30d5\u30a3\u30c3\u30b7\u30e5\uff09\u6cd5<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u9818\u57df\u304c\u6b20\u5931\u3057\u3066\u3044\u308b\u304b\u3092\u3001\u5149\u308b\u8a66\u85ac\u3067\u30d4\u30f3\u30dd\u30a4\u30f3\u30c8\u306b\u78ba\u8a8d\u3059\u308b\u691c\u67fb\u3067\u3059\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\u306a\u3069\u3001\u72d9\u3046\u9818\u57df\u304c\u3042\u308b\u7a0b\u5ea6\u7d5e\u308c\u3066\u3044\u308b\u5834\u5408\u306b\u4f7f\u308f\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%91%A2_%E6%9F%93%E8%89%B2%E4%BD%93%E3%83%9E%E3%82%A4%E3%82%AF%E3%83%AD%E3%82%A2%E3%83%AC%E3%82%A4%E6%A4%9C%E6%9F%BB%EF%BC%88CMA%EF%BC%89\"><\/span><strong>\u2462 \u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u691c\u67fb\uff08CMA\uff09<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u73fe\u5728\u3001\u6700\u3082\u63a8\u5968\u3055\u308c\u308b\u9ad8\u7cbe\u5ea6\u306a\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7279\u5fb4\uff1a G-\u30d0\u30f3\u30c9\u6cd5\u3067\u306f\u898b\u3064\u3051\u3089\u308c\u306a\u3044\u3001\u3054\u304f\u5fae\u7d30\u306a\u6b20\u5931\uff08\u30de\u30a4\u30af\u30ed\u30c7\u30ea\u30fc\u30b7\u30e7\u30f3\uff09\u3092\u7279\u5b9a\u3067\u304d\u307e\u3059\u3002<\/li>\n\n\n<li>\u30e1\u30ea\u30c3\u30c8\uff1a \u3069\u306e\u907a\u4f1d\u5b50\u304c\u3001\u3069\u306e\u7bc4\u56f2\u3067\u5931\u308f\u308c\u3066\u3044\u308b\u304b\u3092\u8a73\u7d30\u306a\u30c7\u30fc\u30bf\u3068\u3057\u3066\u5f97\u3089\u308c\u308b\u305f\u3081\u3001\u4eca\u5f8c\u8d77\u3053\u308a\u3046\u308b\u5408\u4f75\u75c7\u306e\u4e88\u6e2c\u3084\u3001\u7642\u80b2\u65b9\u91dd\u306e\u691c\u8a0e\u306b\u5f79\u7acb\u3061\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img loading=\"lazy\" decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/11\/32627722_s.webp\" alt=\"\u533b\u8005\" class=\"wp-image-119511\"\/><\/figure><\/div>\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"6_%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%E3%83%BBNIPT%E3%81%A8%E3%81%AE%E9%96%A2%E4%BF%82\"><\/span><strong>6. \u51fa\u751f\u524d\u8a3a\u65ad\u30fbNIPT\u3068\u306e\u95a2\u4fc2<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>7q\u6b20\u5931\u306f\u3001\u57fa\u672c\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u901a\u5e38\u542b\u307e\u308c\u305a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927\u691c\u67fb\u3067\u3082\u3001\u5bfe\u8c61\u306b\u306a\u308b\u304b\u306f\u30d7\u30e9\u30f3\u3068\u6b20\u5931\u306e\u7bc4\u56f2\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u4e00\u822c\u7684\u306a\u57fa\u672cNIPT\u304c\u8abf\u3079\u308b\u306e\u306f\u300121\u30fb18\u30fb<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/patau-syndrome\/\">13\u30c8\u30ea\u30bd\u30df\u30fc<\/a>\u3068\u3044\u3046\u67d3\u8272\u4f53\u306e\u300c\u6570\u300d\u306e\u5909\u5316\u304c\u4e2d\u5fc3\u3067\u3059\u300222q11.2\u6b20\u5931\u75c7\u5019\u7fa4\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/microdeletion-syndrome\/\">\u30c7\u30a3\u30b8\u30e7\u30fc\u30b8\u75c7\u5019\u7fa4<\/a>\uff09\u306a\u3069\u3001\u6bd4\u8f03\u7684\u983b\u5ea6\u306e\u9ad8\u3044\u4e00\u90e8\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u5bfe\u8c61\u306b\u542b\u3080\u30d7\u30e9\u30f3\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3060\u30577q\u6b20\u5931\u306f\u6b20\u5931\u306e\u7bc4\u56f2\u3084\u4f4d\u7f6e\u304c\u75c7\u4f8b\u3054\u3068\u306b\u5927\u304d\u304f\u7570\u306a\u308b\u305f\u3081\u3001\u62e1\u5927\u691c\u67fb\u3067\u3042\u3063\u3066\u3082\u3001\u3069\u3053\u307e\u3067\u306e\u7bc4\u56f2\u3092\u691c\u51fa\u5bfe\u8c61\u306b\u542b\u3080\u304b\u306f\u691c\u67fb\u4f1a\u793e\u3084\u30d7\u30e9\u30f3\u306e\u6280\u8853\u4ed5\u69d8\u306b\u3088\u3063\u3066\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u79c1\u305f\u3061\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30afNIPT\u306b\u3082\u3001\u300c<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/pregnancy-checkups-frequency-and-details\/\">\u598a\u5a66\u5065\u8a3a<\/a>\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u6307\u6458\u304c\u3042\u308a\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306e\u691c\u67fb\u3092\u691c\u8a0e\u3057\u3066\u3044\u308b\u300d\u3068\u3044\u3046\u3054\u76f8\u8ac7\u304c\u5bc4\u305b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305a\u77e5\u3063\u3066\u3044\u305f\u3060\u304d\u305f\u3044\u306e\u306f\u3001<strong>NIPT\u306f\u3042\u304f\u307e\u3067\u975e\u78ba\u5b9a\u7684\u306a\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb<\/strong>\u3060\u3068\u3044\u3046\u70b9\u3067\u3059\u3002\u516c\u76ca\u793e\u56e3\u6cd5\u4eba\u65e5\u672c\u7523\u79d1\u5a66\u4eba\u79d1\u5b66\u4f1a\u306e<a href=\"https:\/\/www.jsog.or.jp\/news\/pdf\/NIPT_kaiteishishin.pdf\" target=\"_blank\" rel=\"noopener\">NIPT\u306b\u95a2\u3059\u308b\u6307\u91dd<\/a>\u3067\u3082\u3001NIPT\u306e\u7d50\u679c\u306f\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u691c\u67fb\u306e\u7bc4\u56f2\u306b\u3068\u3069\u307e\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>7q36\u6b20\u5931\u306b\u4f34\u3046\u5168\u524d\u8133\u80de\u75c7\u3084\u30017q21\u6b20\u5931\u306b\u4f34\u3046\u624b\u8db3\u306e\u5f62\u614b\u7570\u5e38\u306e\u3088\u3046\u306b\u3001<strong>\u51fa\u751f\u524d\u306e\u8d85\u97f3\u6ce2\u691c\u67fb\u3067\u6307\u6458\u3055\u308c\u3066\u898b\u3064\u304b\u308b\u30b1\u30fc\u30b9\u3082\u5c11\u306a\u304f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong>\u8d85\u97f3\u6ce2\u3067\u69cb\u9020\u7684\u306a\u7570\u5e38\u304c\u7591\u308f\u308c\u305f\u5834\u5408\u3084\u3001NIPT\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u691c\u67fb\u3067\u967d\u6027\u6240\u898b\u304c\u51fa\u305f\u5834\u5408\u306f\u3001\u3044\u305a\u308c\u3082<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08CMA\uff09\u304c\u78ba\u5b9a\u8a3a\u65ad\u306e\u4e2d\u5fc3\u306b\u306a\u308a\u307e\u3059\u3002\u3042\u308f\u3066\u3066\u7d50\u8ad6\u3092\u51fa\u3055\u305a\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u4e00\u3064\u305a\u3064\u6574\u7406\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7_%E6%B2%BB%E7%99%82%E3%81%A8%E7%AE%A1%E7%90%86%EF%BC%9A%E5%81%A5%E3%82%84%E3%81%8B%E3%81%AA%E6%88%90%E9%95%B7%E3%82%92%E6%94%AF%E3%81%88%E3%82%8B%E3%81%9F%E3%82%81%E3%81%AB\"><\/span><strong>7. \u6cbb\u7642\u3068\u7ba1\u7406\uff1a\u5065\u3084\u304b\u306a\u6210\u9577\u3092\u652f\u3048\u308b\u305f\u3081\u306b<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5931\u308f\u308c\u305f\u67d3\u8272\u4f53\u305d\u306e\u3082\u306e\u3092\u5143\u306b\u623b\u3059\u6839\u6cbb\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u3042\u308a\u307e\u305b\u3093\u304c\u3001\u500b\u3005\u306e\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u30b1\u30a2\u3068\u65e9\u671f\u306e\u7642\u80b2\u3067\u3001\u304a\u5b50\u3055\u3093\u306e\u53ef\u80fd\u6027\u3092\u5e83\u3052\u3089\u308c\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%A4%9A%E8%81%B7%E7%A8%AE%E3%81%AB%E3%82%88%E3%82%8B%E9%80%A3%E6%90%BA%E3%83%81%E3%83%BC%E3%83%A0\"><\/span><strong>\u591a\u8077\u7a2e\u306b\u3088\u308b\u9023\u643a\u30c1\u30fc\u30e0<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7q\u6b20\u5931\u306e\u304a\u5b50\u3055\u3093\u306e\u30b1\u30a2\u306b\u306f\u3001\u591a\u304f\u306e\u5c02\u9580\u5bb6\u304c\u9023\u643a\u3057\u3066\u95a2\u308f\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u5150\u79d1\uff08\u907a\u4f1d\u5916\u6765\uff09\uff1a \u5168\u4f53\u7684\u306a\u767a\u80b2\u306e\u7ba1\u7406\u3068\u3001\u5404\u8a3a\u7642\u79d1\u306e\u6a4b\u6e21\u3057\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n<li>\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3\u79d1\uff08PT\/OT\/ST\uff09\uff1a \u904b\u52d5\u30fb\u624b\u5148\u306e\u52d5\u304d\u30fb\u8a00\u8449\u3068\u56a5\u4e0b\u306e\u767a\u9054\u3092\u652f\u3048\u307e\u3059\u3002<\/li>\n\n\n<li>\u6574\u5f62\u5916\u79d1\uff1a \u624b\u8db3\u306e\u5f62\u614b\u306b\u7279\u5fb4\u304c\u3042\u308b\u5834\u5408\u3001\u6a5f\u80fd\u7dad\u6301\u306e\u305f\u3081\u306e\u624b\u8853\u3084\u88c5\u5177\u3092\u691c\u8a0e\u3057\u307e\u3059\u3002<\/li>\n\n\n<li>\u5c0f\u5150\u795e\u7d4c\u79d1\uff1a 7q36\u6b20\u5931\u306b\u4f34\u3046\u3051\u3044\u308c\u3093\u3084\u8133\u5f62\u6210\u306e\u8a55\u4fa1\u3092\u62c5\u5f53\u3057\u307e\u3059\u3002<\/li>\n\n\n<li>\u773c\u79d1\u30fb\u8033\u9f3b\u79d1\uff1a \u659c\u8996\u3084\u96e3\u8074\u306e\u6709\u7121\u3092\u5b9a\u671f\u7684\u306b\u30c1\u30a7\u30c3\u30af\u3057\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%99%BA%E9%81%94%E6%94%AF%E6%8F%B4%EF%BC%88%E7%99%82%E8%82%B2%EF%BC%89%E3%81%AE%E9%87%8D%E8%A6%81%E6%80%A7\"><\/span><strong>\u767a\u9054\u652f\u63f4\uff08\u7642\u80b2\uff09\u306e\u91cd\u8981\u6027<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300c\u7642\u80b2\u300d\u3068\u306f\u3001\u304a\u5b50\u3055\u3093\u306e\u767a\u9054\u6bb5\u968e\u306b\u5408\u308f\u305b\u305f\u30c8\u30ec\u30fc\u30cb\u30f3\u30b0\u3092\u884c\u3044\u3001\u793e\u4f1a\u751f\u6d3b\u3092\u9001\u308a\u3084\u3059\u304f\u3059\u308b\u305f\u3081\u306e\u652f\u63f4\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u500b\u5225\u652f\u63f4\u8a08\u753b\uff1a \u5712\u3084\u5b66\u6821\u3068\u9023\u643a\u3057\u3001\u7d75\u30ab\u30fc\u30c9\u306a\u3069\u306b\u3088\u308b\u60c5\u5831\u306e\u8996\u899a\u5316\u3084\u3001\u843d\u3061\u7740\u3051\u308b\u74b0\u5883\u4f5c\u308a\u3092\u4f9d\u983c\u3057\u307e\u3059\u3002<\/li>\n\n\n<li>\u4ee3\u66ff\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\uff1a \u8a00\u8449\u3067\u306e\u610f\u601d\u758e\u901a\u304c\u96e3\u3057\u3044\u5834\u5408\u306f\u3001\u30b5\u30a4\u30f3\u3084\u30bf\u30d6\u30ec\u30c3\u30c8\u7aef\u672b\u3092\u7a4d\u6975\u7684\u306b\u53d6\u308a\u5165\u308c\u3066\u304f\u3060\u3055\u3044\u3002\u304a\u5b50\u3055\u3093\u306e\u30d5\u30e9\u30b9\u30c8\u30ec\u30fc\u30b7\u30e7\u30f3\u3092\u6e1b\u3089\u305b\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u75c7\u72b6\u306e\u7d44\u307f\u5408\u308f\u305b\u3082\u91cd\u3055\u3082\u4e00\u4eba\u3072\u3068\u308a\u9055\u3046\u305f\u3081\u3001\u6c7a\u307e\u3063\u305f\u7d4c\u904e\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u62c5\u5f53\u533b\u3084\u7642\u80b2\u30b9\u30bf\u30c3\u30d5\u3068\u76f8\u8ac7\u3057\u306a\u304c\u3089\u3001\u304a\u5b50\u3055\u3093\u306b\u5408\u308f\u305b\u305f\u652f\u63f4\u8a08\u753b\u3092\u5c11\u3057\u305a\u3064\u7d44\u307f\u7acb\u3066\u3066\u3044\u304f\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"8_%E4%BA%88%E5%BE%8C%E3%81%A8%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span><strong>8. \u4e88\u5f8c\u3068\u898b\u901a\u3057<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u767a\u9054\u306e\u9045\u308c\u304c\u76ee\u7acb\u305f\u306a\u3044\u65b9\u304b\u3089\u652f\u63f4\u304c\u9577\u304f\u5fc5\u8981\u306a\u65b9\u307e\u3067\u5e45\u304c\u3042\u308a\u3001\u6b20\u5931\u306e\u7bc4\u56f2\u3068\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u898b\u901a\u3057\u306f\u5927\u304d\u304f\u5909\u308f\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u9577\u671f\u7684\u306a\u7d4c\u904e\u3092\u4e00\u5f8b\u306b\u65ad\u5b9a\u3059\u308b\u3053\u3068\u306f\u3001\u73fe\u6642\u70b9\u306e\u533b\u5b66\u3067\u306f\u56f0\u96e3\u3067\u3059\u30027q36\u6b20\u5931\u3067\u5168\u524d\u8133\u80de\u75c7\u3092\u4f34\u3046\u5834\u5408\u306f\u8133\u5f62\u6210\u306e\u7a0b\u5ea6\u306b\u3088\u3063\u3066\u30017q31\u6b20\u5931\u3067\u8a00\u8a9e\u9762\u304c\u4e2d\u5fc3\u306e\u5834\u5408\u306f\u8a00\u8a9e\u7642\u6cd5\u306e\u958b\u59cb\u6642\u671f\u306b\u3088\u3063\u3066\u3001\u751f\u6d3b\u306e\u3057\u3084\u3059\u3055\u304c\u5909\u308f\u3063\u3066\u304f\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u5b9a\u671f\u7684\u306a\u533b\u5b66\u7684\u30d5\u30a9\u30ed\u30fc\u3068\u3001\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u304c\u3001\u9577\u3044\u76ee\u3067\u898b\u305f\u751f\u6d3b\u306e\u8cea\uff08QOL\uff09\u3092\u652f\u3048\u308b\u9375\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"9_%E3%81%94%E5%AE%B6%E6%97%8F%E3%81%B8%E3%81%AE%E3%83%A1%E3%83%83%E3%82%BB%E3%83%BC%E3%82%B8%E3%81%A8%E7%9B%B8%E8%AB%87%E5%85%88\"><\/span><strong>9. \u3054\u5bb6\u65cf\u3078\u306e\u30e1\u30c3\u30bb\u30fc\u30b8\u3068\u76f8\u8ac7\u5148<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u5e0c\u5c11\u75be\u60a3\u3086\u3048\u306e\u5b64\u72ec\u611f\u306f\u5927\u304d\u3044\u3082\u306e\u3067\u3059\u304c\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3084\u56fd\u969b\u7684\u306a\u5bb6\u65cf\u4f1a\u306a\u3069\u3001\u983c\u308c\u308b\u5834\u6240\u306f\u8907\u6570\u3042\u308a\u307e\u3059\u3002<\/strong><\/p>\n\n\n\n<p>\u8a3a\u65ad\u540d\u3092\u805e\u304b\u3055\u308c\u305f\u77ac\u9593\u3001\u76ee\u306e\u524d\u304c\u6697\u304f\u306a\u308a\u3001\u5c06\u6765\u3078\u306e\u5e0c\u671b\u304c\u898b\u3048\u306a\u304f\u306a\u308b\u3088\u3046\u306a\u6c17\u6301\u3061\u306b\u306a\u3089\u308c\u305f\u304b\u3082\u3057\u308c\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u3001\u3069\u3046\u304b\u77e5\u3063\u3066\u304a\u3044\u3066\u304f\u3060\u3055\u3044\u3002<strong>\u304a\u5b50\u3055\u3093\u306f\u3001\u67d3\u8272\u4f53\u306e\u756a\u53f7\u3060\u3051\u3067\u6c7a\u307e\u308b\u5b58\u5728\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/strong><\/p>\n\n\n\n<p>7q\u6b20\u5931\u306e\u304a\u5b50\u3055\u3093\u305f\u3061\u3082\u3001\u5927\u597d\u304d\u306a\u98df\u3079\u7269\u304c\u3042\u308a\u3001\u697d\u3057\u3044\u3053\u3068\u3067\u7b11\u3044\u3001\u5bb6\u65cf\u3068\u306e\u89e6\u308c\u5408\u3044\u3092\u559c\u3076\u3001\u304b\u3051\u304c\u3048\u306e\u306a\u3044\u500b\u6027\u3092\u6301\u3063\u305f\u4e00\u4eba\u306e\u4eba\u9593\u3067\u3059\u3002\u767a\u9054\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3068\u3044\u3046\u3053\u3068\u306f\u3001\u304a\u5b50\u3055\u3093\u304c\u3067\u304d\u308b\u3088\u3046\u306b\u306a\u3063\u305f\u4e00\u3064\u3072\u3068\u3064\u306e\u300c\u3067\u304d\u305f\uff01\u300d\u3092\u3001\u3088\u308a\u6df1\u304f\u9577\u304f\u5bb6\u65cf\u3067\u559c\u3079\u308b\u3068\u3044\u3046\u3053\u3068\u3067\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u8fd1\u6240\u3067\u540c\u3058\u60a9\u307f\u3092\u5171\u6709\u3067\u304d\u308b\u76f8\u624b\u304c\u3044\u306a\u3044\u3001\u305d\u3093\u306a\u5b64\u72ec\u3002\u8fd1\u5e74\u306f\u3001SNS\u3084\u56fd\u5185\u306e\u5bb6\u65cf\u4f1a\u306b\u52a0\u3048\u3001<a href=\"https:\/\/rarechromo.org\/media\/information\/Chromosome%20%207\/7q%20deletions%20between%207q21%20and%207q32%20FTNW.pdf\" target=\"_blank\" rel=\"noopener\">Unique\uff08Rare Chromosome Disorder Support Group\uff09<\/a>\u306e\u3088\u3046\u306a\u56fd\u969b\u7684\u306a\u652f\u63f4\u56e3\u4f53\u3092\u901a\u3058\u3066\u3001\u4e16\u754c\u4e2d\u306e\u540c\u30587\u756a\u67d3\u8272\u4f53\u306e\u7279\u6027\u3068\u6b69\u3080\u5bb6\u65cf\u306e\u77e5\u898b\u3092\u5171\u6709\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002\u8ff7\u3063\u305f\u308a\u75b2\u308c\u305f\u308a\u3057\u305f\u3068\u304d\u306f\u3001\u4e3b\u6cbb\u533b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u3001\u5730\u57df\u306e\u76f8\u8ac7\u652f\u63f4\u54e1\u3092\u983c\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n\n\n\n<p>\u4ed6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306b\u3064\u3044\u3066\u3082\u6c17\u306b\u306a\u308b\u65b9\u306f\u3001\u3042\u308f\u305b\u3066\u3054\u78ba\u8a8d\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/7q11-23-deletion-distal-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">7q11.23\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u9060\u4f4d\uff09 <\/div>\n          <div class=\"blog-card-excerpt\">7q11.23\u6b20\u5931\u75c7\u5019\u7fa4\uff08\u9060\u4f4d\uff09\u306f\u30017\u756a\u67d3\u8272\u4f53\u306e\u4e00\u90e8\u6b20\u5931\u304c\u539f\u56e0\u3067\u767a\u751f\u3059\u308b\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u4e3b\u306a\u75c7\u72b6\u3084\u6cbb\u7642\u6cd5\u3001\u5bb6\u65cf\u306e\u8ca0\u62c5\u8efd\u6e1b\u306e\u305f\u3081\u306e\u652f\u63f4\u65b9\u6cd5\u306b\u3064...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n    <a href=\"\/nipt\/williams_beuren\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Williams-Beuren\u75c7\u5019\u7fa4\uff08\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\uff09\u306b\u3064\u3044\u3066 <\/div>\n          <div class=\"blog-card-excerpt\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4 (Williams Syndrome, WS) \u306f\u7a00\u5c11\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3001\u795e\u7d4c\u767a\u9054\u306e\u8ab2\u984c\u3084\u7279\u5fb4\u7684\u306a\u9854\u3064\u304d\u3001\u5fc3\u8840\u7ba1\u7cfb\u306e\u554f\u984c\u304c\u898b...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u5168\u822c\u304c\u5fc3\u914d\u306a\u65b9\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-microdeletion-risks\/\">\u67d3\u8272\u4f53\u306e\u5fae\u7d30\u306a\u7570\u5e38\u304c\u3082\u305f\u3089\u3059\u30ea\u30b9\u30af\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3001\u767a\u9054\u306e\u7279\u6027\u306b\u3064\u3044\u3066\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt-intellectual-disability-traits-development\/\">NIPT\u3067\u5206\u304b\u308b\u77e5\u7684\u969c\u5bb3\u306e\u30ea\u30a2\u30eb\u306b\u3064\u3044\u3066\u306e\u8a18\u4e8b<\/a>\u3082\u53c2\u8003\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/line-registration\/\" target=\"_blank\" rel=\"noopener\">LINE\u3067\u7121\u6599\u76f8\u8ac7\u3059\u308b<\/a><\/div>\n<\/div>\n\n\n\n<p>\u6b21\u306e\u304a\u5b50\u3055\u307e\u306b\u5411\u3051\u3066NIPT\u3092\u691c\u8a0e\u3059\u308b\u5834\u5408\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u3092\u3069\u3053\u307e\u3067\u5bfe\u8c61\u306b\u542b\u3080\u304b\u3067\u30d7\u30e9\u30f3\u306e\u5185\u5bb9\u304c\u5909\u308f\u308a\u307e\u3059\u3002\u3054\u81ea\u8eab\u306b\u5408\u3046\u30d7\u30e9\u30f3\u304c\u5206\u304b\u3089\u306a\u3044\u5834\u5408\u306f\u3001<strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\">\u30d7\u30e9\u30f3\u8a3a\u65ad<\/a><\/strong>\u3092\u8a66\u3057\u3066\u304f\u3060\u3055\u3044\u3002\u304a\u96fb\u8a71\u3067\u306e\u3054\u76f8\u8ac7\u3082\u53d7\u3051\u4ed8\u3051\u3066\u3044\u307e\u3059\u3002<a href=\"tel:0120169629\">0120-169-629<\/a>\u307e\u3067\u304a\u6c17\u8efd\u306b\u304a\u554f\u3044\u5408\u308f\u305b\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<div class=\"wp-block-buttons is-content-justification-center is-layout-flex wp-container-core-buttons-is-layout-16018d1d wp-block-buttons-is-layout-flex\">\n<div class=\"wp-block-button\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/mypage-nipt-reservation.hiro-clinic.or.jp\/registration\" target=\"_blank\" rel=\"noopener\">NIPT\u306e\u4e88\u7d04\u306f\u3053\u3061\u3089<\/a><\/div>\n\n\n<div class=\"wp-block-button is-style-outline is-style-outline--2\"><a class=\"wp-block-button__link wp-element-button\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/plan-finder\/\" target=\"_blank\" rel=\"noopener\">\u30d7\u30e9\u30f3\u8a3a\u65ad\u3067\u81ea\u5206\u306b\u5408\u3046\u691c\u67fb\u3092\u63a2\u3059<\/a><\/div>\n<\/div>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%88%E3%81%8F%E3%81%82%E3%82%8B%E8%B3%AA%E5%95%8F\"><\/span><strong>\u3088\u304f\u3042\u308b\u8cea\u554f<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7q%E6%AC%A0%E5%A4%B1%EF%BC%887%E7%95%AA%E6%9F%93%E8%89%B2%E4%BD%93%E9%95%B7%E8%85%95%E6%AC%A0%E5%A4%B1%E7%97%87%E5%80%99%E7%BE%A4%EF%BC%89%E3%81%A8%E3%81%AF%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>7q\u6b20\u5931\uff087\u756a\u67d3\u8272\u4f53\u9577\u8155\u6b20\u5931\u75c7\u5019\u7fa4\uff09\u3068\u306f\u3069\u306e\u3088\u3046\u306a\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>7\u756a\u67d3\u8272\u4f53\u306e\u9577\u8155\uff08q\uff09\u306e\u4e00\u90e8\u304c\u751f\u307e\u308c\u3064\u304d\u5931\u308f\u308c\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002\u6b20\u3051\u308b\u5834\u6240\u3084\u7bc4\u56f2\u304c\u75c7\u4f8b\u3054\u3068\u306b\u7570\u306a\u308b\u305f\u3081\u3001\u73fe\u308c\u308b\u75c7\u72b6\u306e\u5e45\u304c\u975e\u5e38\u306b\u5e83\u3044\u5e0c\u5c11\u67d3\u8272\u4f53\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%A6%E3%82%A3%E3%83%AA%E3%82%A2%E3%83%A0%E3%82%BA%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A87q%E6%AC%A0%E5%A4%B1%E3%81%AF%E5%90%8C%E3%81%98%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4\u30687q\u6b20\u5931\u306f\u540c\u3058\u75c5\u6c17\u3067\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/williams_beuren\/\">\u30a6\u30a3\u30ea\u30a2\u30e0\u30ba\u75c7\u5019\u7fa4<\/a>\u306f\u30017q\u6b20\u5931\u306e\u3046\u30617q11.23\u9818\u57df\u304c\u6b20\u3051\u308b\u4ee3\u8868\u4f8b\u306e\u4e00\u3064\u3067\u3059\u30027q\u6b20\u5931\u306f7q21\u30fb7q31\u30fb7q36\u306a\u3069\u4ed6\u306e\u9818\u57df\u3067\u3082\u8d77\u3053\u308a\u3001\u305d\u308c\u305e\u308c\u75c7\u72b6\u306e\u4e2d\u5fc3\u304c\u7570\u306a\u308b\u305f\u3081\u3001\u4e21\u8005\u306f\u300c\u4e00\u90e8\u304c\u91cd\u306a\u308b\u300d\u95a2\u4fc2\u306b\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"7q%E6%AC%A0%E5%A4%B1%E3%81%AFNIPT%E3%81%A7%E3%82%8F%E3%81%8B%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>7q\u6b20\u5931\u306fNIPT\u3067\u308f\u304b\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u57fa\u672c\u7684\u306aNIPT\u306e\u5bfe\u8c61\u306b\u306f\u901a\u5e38\u542b\u307e\u308c\u307e\u305b\u3093\u3002<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u307e\u3067\u5bfe\u8c61\u3092\u5e83\u3052\u305f\u62e1\u5927\u691c\u67fb\u3067\u3082\u30017q\u6b20\u5931\u306e\u7bc4\u56f2\u3084\u4f4d\u7f6e\u306b\u3088\u3063\u3066\u691c\u51fa\u5bfe\u8c61\u306b\u542b\u307e\u308c\u308b\u304b\u3069\u3046\u304b\u306f\u30d7\u30e9\u30f3\u3054\u3068\u306b\u7570\u306a\u308a\u307e\u3059\u3002NIPT\u306f\u975e\u78ba\u5b9a\u7684\u306a\u691c\u67fb\u306e\u305f\u3081\u3001\u7591\u3044\u304c\u3042\u308b\u5834\u5408\u306f<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u306b\u3088\u308b\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\u3067\u78ba\u5b9a\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E6%80%A7%E3%81%AE%E7%97%85%E6%B0%97%E3%81%A7%E3%81%99%E3%81%8B%E3%80%82%E6%AC%A1%E3%81%AE%E5%AD%90%E3%81%A9%E3%82%82%E3%81%AB%E3%82%82%E5%BD%B1%E9%9F%BF%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3059\u304b\u3002\u6b21\u306e\u5b50\u3069\u3082\u306b\u3082\u5f71\u97ff\u3057\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u591a\u304f\u306f\u5076\u767a\u7684\u306a\u7a81\u7136\u5909\u7570\uff08\u30c7\u30ce\u30dc\uff09\u3067\u3001\u6b21\u306e\u304a\u5b50\u3055\u307e\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4e00\u822c\u7684\u306b\u4f4e\u3044\u3068\u3055\u308c\u307e\u3059\u3002\u305f\u3060\u3057\u3054\u4e21\u89aa\u306e\u3069\u3061\u3089\u304b\u304c\u5747\u8861\u578b\u8ee2\u5ea7\u3092\u6301\u3064\u5834\u5408\u3084\u3001\u4e00\u90e8\u306e\u9818\u57df\u3067\u306f\u5e38\u67d3\u8272\u4f53\u9855\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308b\u5834\u5408\u304c\u3042\u308b\u305f\u3081\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3067\u78ba\u8a8d\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%A9%E3%81%AE%E3%82%88%E3%81%86%E3%81%AA%E6%A4%9C%E6%9F%BB%E3%81%A7%E8%A8%BA%E6%96%AD%E3%81%8C%E7%A2%BA%E5%AE%9A%E3%81%97%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u3069\u306e\u3088\u3046\u306a\u691c\u67fb\u3067\u8a3a\u65ad\u304c\u78ba\u5b9a\u3057\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\u691c\u67fb\uff08CMA\uff09\u304c\u4e2d\u5fc3\u3067\u3059\u3002\u5f93\u6765\u306e\u9855\u5fae\u93e1\u691c\u67fb\uff08G-\u30d0\u30f3\u30c9\u6cd5\uff09\u3067\u306f\u898b\u3064\u3051\u3089\u308c\u306a\u3044\u5fae\u7d30\u306a\u6b20\u5931\u3082\u7279\u5b9a\u3067\u304d\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066FISH\u6cd5\u3084\u4e21\u89aa\u306e\u691c\u67fb\u3092\u7d44\u307f\u5408\u308f\u305b\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9B%B8%E8%AB%87%E3%81%A7%E3%81%8D%E3%82%8B%E6%94%AF%E6%8F%B4%E5%9B%A3%E4%BD%93%E3%81%AF%E3%81%82%E3%82%8A%E3%81%BE%E3%81%99%E3%81%8B%E3%80%82\"><\/span>\u76f8\u8ac7\u3067\u304d\u308b\u652f\u63f4\u56e3\u4f53\u306f\u3042\u308a\u307e\u3059\u304b\u3002<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u56fd\u5185\u306e\u5bb6\u65cf\u4f1a\u306b\u52a0\u3048\u3001\u56fd\u969b\u7684\u306a\u67d3\u8272\u4f53\u75be\u60a3\u652f\u63f4\u56e3\u4f53Unique\uff08Rare Chromosome Disorder Support Group\uff09\u304c\u30017\u756a\u67d3\u8272\u4f53\u306e\u7279\u6027\u306b\u95a2\u3059\u308b\u60c5\u5831\u3084\u3001\u540c\u3058\u75be\u60a3\u3092\u6301\u3064\u5bb6\u65cf\u3069\u3046\u3057\u306e\u3064\u306a\u304c\u308a\u3092\u63d0\u4f9b\u3057\u3066\u3044\u307e\u3059\u3002\u4e3b\u6cbb\u533b\u3084\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306b\u3082\u9060\u616e\u306a\u304f\u76f8\u8ac7\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<p><strong>\u76e3\u4fee\uff1a\u5ca1\u535a\u53f2\uff08\u304a\u304b \u3072\u308d\u3057\uff09<\/strong> \/ \u533b\u7642\u6cd5\u4eba\u793e\u56e3\u798f\u7f8e\u4f1a \u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af\u7d71\u62ec\u9662\u9577\u30fbLabo 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