{"id":4618,"date":"2022-02-01T14:26:54","date_gmt":"2022-02-01T06:26:54","guid":{"rendered":"http:\/\/web.csh.org.tw\/web\/cshmagazine\/?p=4618"},"modified":"2022-02-16T08:53:14","modified_gmt":"2022-02-16T00:53:14","slug":"%e9%97%9c%e6%b3%a8%e7%94%9f%e9%95%b7%e7%99%bc%e8%82%b2%e9%a4%8a%e5%87%ba%e5%81%a5%e5%ba%b7%e5%85%92%e7%ab%a5-%e5%85%92%e7%a7%91%e6%96%b0%e6%97%85%e7%a8%8b","status":"publish","type":"post","link":"https:\/\/web.csh.org.tw\/web\/cshmagazine\/?p=4618","title":{"rendered":"\u95dc\u6ce8\u751f\u9577\u767c\u80b2\u990a\u51fa\u5065\u5eb7\u5152\u7ae5-\u5152\u79d1\u65b0\u65c5\u7a0b"},"content":{"rendered":"\n

\u5152\u7ae5\u907a\u50b3\u4ee3\u8b1d\u66a8\u5167\u5206\u6ccc\u79d1 \u8607\u672c\u83ef\u91ab\u5e2b<\/strong><\/p>\n\n\n\n

        \u53f0\u7063\u76ee\u524d\u521d\u5a5a\u5e74\u9f61\u9010\u5e74\u63d0\u9ad8\uff0c\u9ad8\u9f61\u7522\u5a66\u7684\u6bd4\u4f8b\u4e5f\u662f\u9010\u5e74\u589e\u52a0\u3002\u56e0\u6b64\uff0c\u6240\u6709\u5152\u79d1\u91ab\u5e2b(\u7279\u5225\u662f\u65b0\u751f\u5152\u79d1\u91ab\u5e2b)\u5e38\u6703\u88ab\u554f\u5230\u9ad8\u9f61\u7522\u5a66\u7684\u554f\u984c\uff0c\u4ee5\u53ca\u4e94\u82b1\u516b\u9580\u7684\u7522\u524d\u8a3a\u65b7\u5de5\u5177\uff0c\u5305\u62ec\u7f8a\u819c\u7a7f\u523a\u7f8a\u6c34\u67d3\u8272\u9ad4\u6aa2\u67e5\u3001\u7f8a\u6c34\u6676\u7247\u6aa2\u67e5\uff0c\u751a\u81f3\u6b21\u4e16\u4ee3\u5b9a\u5e8f\u5206\u6790\u3002<\/p>\n\n\n\n

\u7522\u524d\u907a\u50b3\u6aa2\u67e5\uff0c\u57f9\u80b2\u5065\u5eb7\u5bf6\u5bf6<\/strong><\/p>\n\n\n\n

        \u7d71\u8a08\u5b78\u4e0a\u5df2\u78ba\u5b9a\u9ad8\u9f61\u7522\u5a66\u751f\u80b2\u67d3\u8272\u9ad4\u7570\u5e38\u5152\u7684\u6a5f\u7387\u8f03\u4f4e\u9f61\u7522\u5a66\u9ad8\u3002\u56e0\u6b64\u9ad8\u9f61\u5b55\u5a66\u61f7\u5b55\u671f\u9593\u9664\u4e86\u5b9a\u671f\u7522\u6aa2\u5916\uff0c\u5c1a\u61c9\u9032\u4e00\u6b65\u63a5\u53d7\u7522\u524d\u907a\u50b3\u6aa2\u67e5\uff0c\u4ee5\u65e9\u671f\u78ba\u5b9a\u80ce\u5152\u4e4b\u5065\u5eb7\u60c5\u5f62\u3002<\/p>\n\n\n\n

        \u57fa\u56e0\u6aa2\u67e5\u7684\u6aa2\u9ad4\u4e3b\u8981\u662f\u7d93\u7531\u7f8a\u819c\u7a7f\u523a\u3001\u7d68\u6bdb\u63a1\u6a23\u53ca\u81cd\u5e36\u8840\u63a1\u96c6\uff0c\u9019\u4e09\u7a2e\u65b9\u6cd5\u90fd\u53ef\u4ee5\u76f4\u63a5\u53d6\u5f97\u80ce\u5152\u7d30\u80de\u4f5c\u9032\u4e00\u6b65\u7684\u67d3\u8272\u9ad4\u6216\u57fa\u56e0\u6aa2\u67e5\uff0c\u8a3a\u65b7\u662f\u5426\u6709\u5510\u6c0f\u75c7\u3001\u611b\u5fb7\u83ef\u6c0f\u75c7\u3001\u5df4\u9676\u6c0f\u75c7\u8207\u900f\u7d0d\u6c0f\u75c7\u7b49\u67d3\u8272\u9ad4\u7570\u5e38\uff0c\u6216\u662f\u5176\u4ed6\u67d3\u8272\u9ad4\u69cb\u9020\u4e0a\u7684\u7570\u5e38\u3002\u5fc5\u8981\u6642\u4e5f\u53ef\u4ee5\u7d93\u7531\u7f8a\u6c34\u7d30\u80de\u53d6\u5f97\u80ce\u5152\u7684DNA\uff0c\u9032\u4e00\u6b65\u4f5c\u57fa\u56e0\u7684\u8a3a\u65b7\u3002\u6839\u64da\u672c\u9662\u904e\u53bb\u7684\u7814\u7a76\u986f\u793a\uff0c\u53f0\u7063\u80ce\u5152\u67d3\u8272\u9ad4\u7570\u5e38\u4e4b\u5206\u4f48\uff0c\u6700\u5e38\u898b\u7684\u67d3\u8272\u9ad4\u7570\u5e38\u662ftrisomy 21(\u5510\u6c0f\u75c7)\uff1b\u6027\u67d3\u8272\u9ad4\u6700\u5e38\u898b\u7684\u7570\u5e38\u70baTurner syndrome(\u900f\u7d0d\u6c0f\u75c7)\uff0c\u800creciprocal translocation(\u67d3\u8272\u9ad4\u76f8\u4e92\u6613\u4f4d)\u662f\u6700\u5e38\u898b\u7684\u7d50\u69cb\u7570\u5e38\u3002<\/p>\n\n\n\n

         \u5584\u7528\u7522\u524d\u907a\u50b3\u8a3a\u65b7\u7684\u65b9\u6cd5\uff0c\u900f\u904e\u7576\u524d\u6aa2\u9a57\u6280\u8853\u80fd\u8a3a\u65b7\u80ce\u5152\u72c0\u614b\uff0c\u9054\u5230\u53ca\u65e9\u8a3a\u65b7\uff0c\u9810\u9632\u91cd\u65bc\u6cbb\u7642\u3001\u5a66\u5973\u751f\u80b2\u4fdd\u5065\u7684\u76ee\u7684\u3002<\/p>\n\n\n\n

\u95dc\u6ce8\u751f\u9577\u6578\u64da\uff0c\u990a\u6210\u5065\u5eb7\u5152\u7ae5<\/strong><\/p>\n\n\n\n

        \u7576\u5b55\u671f\u9806\u5229\u7d50\u675f\uff0c\u8fce\u63a5\u65b0\u751f\u5152\uff0c\u751f\u9577\u767c\u80b2\u4fbf\u6210\u4e86\u7236\u6bcd\u7684\u95dc\u6ce8\u7126\u9ede\u3002\u5152\u7ae5\u751f\u9577\u662f\u4e00\u500b\u52d5\u614b\u7684\u904e\u7a0b\uff0c\u96a8\u8457\u6642\u9593\u7684\u63a8\u5c55\uff0c\u5152\u7ae5\u7684\u8eab\u9ad8\u3001\u9ad4\u91cd\u3001\u5668\u5b98\u5747\u6703\u589e\u9577\uff0c\u8eab\u9ad8\u8207\u9ad4\u91cd\u5247\u662f\u8a55\u4f30\u5b69\u7ae5\u6210\u9577\u5065\u5eb7\u8207\u5426\u7684\u91cd\u8981\u6307\u6a19\u3002<\/p>\n\n\n\n

        \u79d1\u5b78\u5bb6\u4f30\u8a08\u4e00\u500b\u4eba\u7684\u8eab\u9ad8\u5927\u7d0480%\u662f\u7531\u907a\u50b3\u4f86\u7684DNA\u5e8f\u5217\u8b8a\u7570\u6240\u5f71\u97ff\uff0c\u8eab\u9ad8\u5927\u90e8\u5206\u662f\u53d7\u5230\u9019\u4e9b\u907a\u50b3\u8b8a\u7570\u7d44\u5408\u6240\u63a7\u5236\uff0c\u6bcf\u4e00\u500b\u907a\u50b3\u8b8a\u7570\u90fd\u5c0d\u8eab\u9ad8\u6709\u8457\u5c0f\u90e8\u5206\u7684\u5f71\u97ff\uff0c\u52a0\u4e0a\u74b0\u5883\u56e0\u7d20\uff08\u98f2\u98df\u3001\u904b\u52d5\u3001\u7761\u7720\u3001\u75be\u75c5\uff09\u4ea4\u4e92\u4f5c\u7528\u4e0b\u6240\u7522\u751f\u7684\u7d50\u679c\u3002<\/p>\n\n\n\n

\"\"<\/figure><\/div>\n\n\n\n

        \u7236\u6bcd\u77ad\u89e3\u5b69\u5b50\u7684\u6f5b\u529b\u8eab\u9ad8\u7bc4\u570d\u5f8c\uff0c\u53ef\u4ee5\u900f\u904e\u5b9a\u671f\u6e2c\u91cf\u5b69\u7ae5\u8eab\u9ad8\u3001\u89c0\u5bdf\u751f\u9577\u901f\u7387\uff0c\u4f86\u4e86\u89e3\u5b69\u5b50\u751f\u9577\u662f\u5426\u6b63\u5e38\u3002\u751f\u9577\u901f\u7387\u662f\u8a55\u4f30\u5b69\u7ae5\u751f\u9577\u8f03\u70ba\u5ba2\u89c0\u7684\u65b9\u6cd5\u4e4b\u4e00\uff0c\u907a\u50b3\u5247\u662f\u5f71\u97ff\u5b69\u7ae5\u6700\u7d42\u8eab\u9ad8\u7684\u91cd\u8981\u56e0\u7d20\u3002\u6211\u5011\u53ef\u4ee5\u5f9e\u751f\u9577\u901f\u5ea6\u5c07\u751f\u9577\u5206\u70ba\u4e09\u968e\u6bb5\uff1a\u51fa\u751f\u5f8c\u7b2c\u4e00\u5e74\u70ba\u6975\u5feb\u901f\u751f\u9577\u671f\uff0c4\u6b72\u81f3\u9752\u6625\u671f\u524d\u7dad\u6301\u7a69\u5b9a\u7684\u751f\u9577\u901f\u5ea6\uff0c\u9752\u6625\u671f\u70ba\u5b69\u7ae5\u7b2c\u4e8c\u500b\u751f\u9577\u52a0\u901f\u671f\uff0c\u6301\u7e8c\u767c\u80b2\u81f3\u5973\u5b69\u9aa8\u9f6114\u6b72\u7537\u5b6916\u6b72\u5176\u8eab\u9ad8\u5373\u63a5\u8fd1\u6700\u7d42\u6210\u4eba\u8eab\u9ad8\u3002<\/p>\n\n\n\n

\"\"<\/figure><\/div>\n\n\n\n

\u90a3\u9ebc\uff0c\u5982\u4f55\u8a55\u4f30\u8eab\u6750\u77ee\u5c0f\u5462\uff1f\u53ef\u4ee5\u5f9e\u56db\u500b\u9762\u5411\u4f86\u4f5c\u70ba\u8a3a\u65b7\u4f9d\u64da\uff1a<\/p>\n\n\n\n

(1)\u8eab\u9ad8\uff1a\u85c9\u7531\u8eab\u9ad8\u66f2\u7dda\u5716\u3001\u7236\u6bcd\u8eab\u9ad8\u8207\u751f\u9577\u901f\u7387\u4f86\u8a55\u4f30\u3002<\/p>\n\n\n\n

(2)\u9aa8\u9f61\uff1a\u901a\u5e38\u5c08\u79d1\u91ab\u5e2b\u6703\u7531\u5152\u7ae5\u5de6\u624b\u53ca\u5de6\u624b\u8155\u9aa8\u7684X\u5149\u651d\u5f71\u4f86\u5224\u8b80\u9aa8\u9f61\uff0c\u85c9\u4ee5\u4e86\u89e3\u9aa8\u9abc\u4e4b\u6210\u9577\u60c5\u6cc1\u3002<\/p>\n\n\n\n

(3)\u751f\u9577\u6fc0\u7d20\u6fc0\u767c\u6027\u8a66\u9a57\uff1a\u9580\u8a3a\u7be9\u6aa2\u5f8c\u9032\u884c\u76f8\u95dc\u6e2c\u8a66\uff0c\u5305\u62ec\u904b\u52d5\u6fc0\u767c\u6e2c\u8a66\u8207\u85e5\u7269\u6fc0\u767c\u6e2c\u8a66\u3002<\/p>\n\n\n\n

(4)\u653e\u5c04\u6027\u5206\u6790\uff1a\u900f\u904e\u9871\u90e8X\u5149\u651d\u5f71\u8207\u6838\u78c1\u5171\u632f\uff08MRI\uff09\uff0c\u6392\u9664\u4e0b\u8996\u4e18-\u8166\u5782\u9ad4\u75c5\u8b8a\u53ca\u4e0b\u8996\u4e18-\u8166\u5782\u9ad4\u767c\u80b2\u7570\u5e38\u7b49\u8166\u90e8\u7684\u75c5\u7406\u56e0\u7d20\u3002<\/p>\n\n\n\n

\u6539\u5584\u751f\u6d3b\u7fd2\u6163\uff0c\u63a5\u53d7\u9069\u7576\u6cbb\u7642<\/strong><\/p>\n\n\n\n

    \u7531\u65bc\u8eab\u6750\u77ee\u5c0f\u53ef\u80fd\u5f71\u97ff\u5b69\u5b50\u81ea\u5c0a\u9020\u6210\u60c5\u7dd2\u554f\u984c\uff0c\u7d93\u8a55\u4f30\u5f8c\u78ba\u8a8d\u70ba\u8eab\u6750\u77ee\u5c0f\u7684\u5c0f\u670b\u53cb\uff0c\u6703\u5148\u5f9e\u56db\u5927\u65b9\u5411\u53bb\u6539\u5584\uff1a<\/p>\n\n\n\n

(1)\u5747\u8861\u98f2\u98df\uff1a\u61c9\u63a1\u5747\u8861\u7684\u651d\u53d6\u3001\u4e0d\u504f\u98df\u4e0d\u6311\u98df\u3001\u5b9a\u6642\u5b9a\u91cf\u539f\u5247\u3002<\/p>\n\n\n\n

(2)\u898f\u5f8b\u904b\u52d5\uff1a\u8df3\u7e69\u548c\u6253\u7c43\u7403\u6709\u52a9\u65bc\u9577\u9ad8\uff0c\u5728\u6253\u7c43\u7403\u3001\u8df3\u7e69\u7b49\u904b\u52d5\u6642\uff0c\u8df3\u8e8d\u5c0d\u808c\u8089\u5c31\u662f\u4e00\u7a2e\u62c9\u626f\uff0c\u800c\u808c\u8089\u5c0d\u9aa8\u9abc\u7522\u751f\u727d\u5f15\u7684\u529b\u91cf\u53ef\u4ee5\u523a\u6fc0\u9aa8\u9abc\u6210\u9577\u3002<\/p>\n\n\n\n

(3)\u5145\u8db3\u7761\u7720\uff1a\u539f\u5247\u63a1\u7761\u8db3\u516b\u5c0f\u6642\uff0c\u6700\u597d\u6bcf\u5929\u5341\u9ede\u4e4b\u524d\u5c31\u4e0a\u5e8a\u53bb\u7761\u89ba\u4e86\uff0c\u56e0\u70ba\u5728\u9019\u6bb5\u6642\u9593\u9084\u6c92\u9032\u5165\u719f\u7761\u671f\u7684\u8a71\uff0c\u5c31\u6703\u932f\u904e\u751f\u9577\u6fc0\u7d20\u5206\u6ccc\u5927\u91cf\u7684\u6642\u6a5f\u3002<\/p>\n\n\n\n

(4)\u907f\u514d\u80a5\u80d6\uff1a\u7576\u5b69\u7ae5\u8655\u65bc\u80a5\u80d6\u7684\u6642\u5019\uff0c\u5c31\u6703\u5c0e\u81f4\u8d8a\u591a\u7684\u8377\u723e\u8499\u5132\u5b58\u5728\u8102\u80aa\u4e2d\uff0c\u4e2d\u6a1e\u7cfb\u7d71\u5c31\u6703\u4ee5\u70ba\u8eab\u9ad4\u5df2\u9032\u5165\u9752\u6625\u671f\uff0c\u63d0\u65e9\u8b93\u7b2c\u4e8c\u6027\u5fb5\u51fa\u73fe\uff0c\u9019\u5c31\u4ee3\u8868\u9aa8\u9f61\u6703\u8d85\u524d\uff0c\u751f\u9577\u677f\u5c31\u6703\u63d0\u65e9\u95dc\u9589\uff0c\u6700\u5f8c\u7684\u7d50\u679c\u5c31\u662f\u5c0f\u670b\u53cb\u5c31\u505c\u6b62\u9577\u9ad8\u4e86\u3002<\/p>\n\n\n\n

        \u4ee5\u4e0a\u56db\u9ede\u90fd\u505a\u5230\uff0c\u4f46\u9084\u662f\u9577\u4e0d\u9ad8\u4e14\u9047\u5230\u4ee5\u4e0b\u5e7e\u7a2e\u72c0\u6cc1\uff0c\u5c31\u53ef\u4ee5\u627e\u91ab\u5e2b\u8aee\u8a62\u5c0b\u6c42\u751f\u9577\u6fc0\u7d20\u6cbb\u7642\uff1a(1)SHOX\u7f3a\u4e4f\u75c7\u3001(2)\u751f\u9577\u6fc0\u7d20\u7f3a\u4e4f\u75c7\u3001(3)\u666e\u745e\u5fb7\u5a01\u5229\u6c0f\u75c7\u5019\u7fa4\u3001(4)\u900f\u7d0d\u6c0f\u75c7\u6216(5)\u51fa\u751f\u9ad4\u91cd\u5c0f\u65bc\u598a\u5a20\u5e74\u9f61\u3002<\/p>\n\n\n\n

\u7d50\u8a9e<\/strong>   <\/p>\n\n\n\n

        \u96a8\u8457\u91ab\u7642\u6280\u8853\u4e0d\u65b7\u767c\u9054\uff0c\u53f0\u7063\u665a\u5a5a\u665a\u5b55\u7684\u73fe\u8c61\u6301\u7e8c\u589e\u52a0\uff0c\u9762\u5c0d\u6709\u751f\u80b2\u8a08\u5283\u7684\u7236\u6bcd\uff0c\u5152\u79d1\u6709\u8cac\u4efb\u5411\u5b55\u5a66\u63d0\u4f9b\u8a73\u7d30\u3001\u6b63\u78ba\u7684\u907a\u50b3\u8a3a\u65b7\u8cc7\u8a0a\uff0c\u540c\u6642\u5728\u65b0\u751f\u5152\u7167\u8b77\u8207\u5152\u7ae5\u751f\u9577\u4e0a\u7d66\u4e88\u5c08\u696d\u5354\u52a9\u3002\u5f9e\u7522\u524d\u5230\u7522\u5f8c\uff0c\u6253\u9020\u5065\u5eb7\u7684\u5152\u7ae5\u751f\u9577\u4e4b\u8def\u3002<\/p>\n","protected":false},"excerpt":{"rendered":"

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