{"id":4307,"date":"2022-11-09T01:01:43","date_gmt":"2022-11-09T01:01:43","guid":{"rendered":"https:\/\/lpfch.org\/unraveling-the-mysteries-of-22q11-2-deletion-syndrome\/"},"modified":"2024-11-22T20:21:29","modified_gmt":"2024-11-22T20:21:29","slug":"unraveling-the-mysteries-of-22q11-2-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/lpfch.org\/zh\/impact-stories\/unraveling-the-mysteries-of-22q11-2-deletion-syndrome\/","title":{"rendered":"\u63ed\u5f0022q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u5965\u79d8"},"content":{"rendered":"<p>\u9664\u975e\u60a8\u7684\u5bb6\u65cf\u60a3\u670922q11.2\u7f3a\u5931\u7efc\u5408\u5f81\uff0822q11.2DS\uff09\uff0c\u5426\u5219\u60a8\u53ef\u80fd\u4ece\u672a\u542c\u8bf4\u8fc7\u8fd9\u79cd\u75be\u75c5\u3002\u636e\u4f30\u8ba1\uff0c\u6bcf2000\u81f34000\u540d\u5a74\u513f\u4e2d\u5c31\u6709\u4e00\u540d\u60a3\u6709\u8fd9\u79cd\u9057\u4f20\u6027\u75be\u75c5\u3002\u867d\u7136\u542c\u8d77\u6765\u5f88\u7f55\u89c1\uff0c\u4f46\u5b83\u4f1a\u5f71\u54cd\u8eab\u4f53\u7684\u591a\u4e2a\u90e8\u4f4d\uff0c\u5e76\u53ef\u80fd\u5bfc\u81f4\u816d\u88c2\u3001\u5fc3\u810f\u7f3a\u9677\u3001\u514d\u75ab\u7cfb\u7edf\u529f\u80fd\u4f4e\u4e0b\u3001\u8033\u90e8\u611f\u67d3\u6216\u542c\u529b\u4e27\u5931\u3001\u766b\u75eb\u3001\u81ea\u95ed\u75c7\u3001\u884c\u4e3a\u548c\u60c5\u7eea\u95ee\u9898\uff0c\u4ee5\u53ca\u5176\u4ed6\u4e25\u91cd\u5f71\u54cd\u513f\u7ae5\u5065\u5eb7\u548c\u751f\u6d3b\u8d28\u91cf\u7684\u75be\u75c5\u3002<\/p>\n<p>\u60a3\u670922q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u513f\u7ae5\uff0c\u517622\u53f7\u67d3\u8272\u4f53\u4e0a\u7f3a\u5931\u4e86\u4e00\u5c0f\u6bb5\uff0c\u7f3a\u5931\u4f4d\u7f6e\u4f4d\u4e8e\u67d3\u8272\u4f53\u4e2d\u95f4\u7684q11.2\u533a\u57df\u3002\u8fd9\u79cd\u590d\u6742\u7684\u75be\u75c5\u5bf9\u6bcf\u4e2a\u5b69\u5b50\u7684\u5f71\u54cd\u5404\u4e0d\u76f8\u540c\uff0c\u75c7\u72b6\u8f7b\u91cd\u4e0d\u4e00\uff0c\u4ece\u8f7b\u5fae\u75c7\u72b6\u5230\u4e25\u91cd\u7684\u5065\u5eb7\u95ee\u9898\u90fd\u6709\u53ef\u80fd\u3002\u5230\u4e86\u9752\u6625\u671f\u548c\u6210\u5e74\u671f\uff0c\u4e3b\u8981\u7684\u6311\u6218\u5728\u4e8e\u5927\u8111\u5065\u5eb7\u2014\u2014\u793e\u4ea4\u7126\u8651\u3001\u5b66\u4e60\u56f0\u96be\uff0c\u6709\u65f6\u8fd8\u4f1a\u51fa\u73b0\u66f4\u4e25\u91cd\u7684\u7cbe\u795e\u969c\u788d\u3002<\/p>\n<p>\u867d\u7136\u76ee\u524d\u5c1a\u65e0\u6cbb\u6108\u65b9\u6cd5\uff0c\u4f46\u5982\u679c\u5fc3\u810f\u75c5\u4e13\u5bb6\u3001\u6574\u5f62\u5916\u79d1\u533b\u751f\u3001\u514d\u75ab\u5b66\u5bb6\u3001\u795e\u7ecf\u79d1\u533b\u751f\u3001\u8bed\u8a00\u548c\u7269\u7406\u6cbb\u7597\u5e08\u4ee5\u53ca\u884c\u4e3a\u4e13\u5bb6\u7b49\u4e13\u5bb6\u80fd\u591f\u5171\u540c\u63d0\u4f9b\u5168\u9762\u7684\u62a4\u7406\uff0c\u5e76\u5bf9\u60a3\u6709 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Pasca\uff09\u535a\u58eb\u9886\u5bfc\u7684\u4e00\u9879\u7814\u7a76\u3002\u5e15\u65af\u5361\u548c\u5979\u7684\u7814\u7a76\u56e2\u961f\u6b63\u5728\u5206\u6790\u643a\u5e2622q11.2\u7f3a\u5931\u7684\u53d1\u80b2\u4e2d\u8111\u7ec6\u80de\u3002\u201c\u6211\u4eec\u5173\u6ce8\u7684\u662f\u5927\u8111\u53d1\u80b2\u65e9\u671f\u7ebf\u7c92\u4f53\u7684\u529f\u80fd\u548c\u6570\u91cf\uff0c\u201d\u5e15\u65af\u5361\u8bf4\uff0c\u201c\u6211\u4eec\u60f3\u5f04\u6e05\u695a\u7ebf\u7c92\u4f53\u7684\u529f\u80fd\u662f\u5426\u53d7\u5230\u5f71\u54cd\uff0c\u5982\u4f55\u53d7\u5230\u5f71\u54cd\uff0c\u4ee5\u53ca\u5728\u5927\u8111\u53d1\u80b2\u7684\u54ea\u4e2a\u9636\u6bb5\u53d7\u5230\u5f71\u54cd\u3002\u201d<\/p>\n<p>\u8fc4\u4eca\u4e3a\u6b62\uff0c\u4ed6\u4eec\u7684\u7814\u7a76\u5df2\u53d1\u73b0\u8bc1\u636e\u8868\u660e\uff0c\u65e9\u5728\u598a\u5a20\u65e9\u671f\uff08\u5b55\u65e9\u671f\uff09\uff0c\u795e\u7ecf\u5143\u548c\u7ebf\u7c92\u4f53\u529f\u80fd\u5c31\u4f1a\u53d7\u5230\u5f71\u54cd\u3002\u201c\u6211\u4eec\u7684\u76ee\u6807\u662f\u627e\u5230\u4e00\u4e9b\u6807\u8bb0\u7269\uff0c\u4ee5\u4fbf\u5728\u598a\u5a20\u65e9\u671f\u8bc6\u522b\u51fa22q11.2\u7f3a\u5931\uff0c\u5e76\u8fdb\u884c\u5e72\u9884\uff0c\u201d\u5e15\u65af\u5361\u8bf4\u9053\u3002\u5e72\u9884\u63aa\u65bd\u53ef\u80fd\u5f88\u7b80\u5355\uff0c\u4f8b\u5982\u7ed9\u5b55\u5987\u670d\u7528\u836f\u7269\u6216\u8865\u5145\u5242\uff0c\u4ee5\u5e2e\u52a9\u9884\u9632\u5927\u8111\u53d1\u80b2\u5f02\u5e38\uff0c\u5e76\u964d\u4f4e\u65e5\u540e\u60a3\u7cbe\u795e\u75be\u75c5\u7684\u98ce\u9669\u3002<\/p>\n<h3>\u514d\u75ab\u7cfb\u7edf\u53d7\u635f\u513f\u7ae5\u7684\u5e0c\u671b<\/h3>\n<p>\u6c49\u5bc6\u5c14\u987f\u548c\u5979\u7684\u5bb6\u4eba\u8fd8\u901a\u8fc7 22q11.2 \u7f3a\u5931\u7efc\u5408\u5f81\u8054\u76df\u652f\u6301\u5bf9\u60a3\u6709\u8fd9\u79cd\u75be\u75c5\u7684\u513f\u7ae5\u7684\u514d\u75ab\u529f\u80fd\u8fdb\u884c\u5f00\u521b\u6027\u7814\u7a76\u3002\u8be5\u8054\u76df\u4e8e 2016 \u5e74\u5728\u65af\u5766\u798f\u5927\u5b66\u7684\u786e\u8bca\u548c\u6cbb\u6108\u533b\u5b66\u4e2d\u5fc3\u6210\u7acb\u3002<\/p>\n<p>\u8fd9\u91cc\u6b63\u5728\u8fdb\u884c\u7684\u7814\u7a76\u53ef\u4ee5\u62ef\u6551\u751f\u547d\u3002\u201c\u8bb8\u591a\u60a3\u8005\u7684\u514d\u75ab\u7cfb\u7edf\u53d7\u635f\uff0c\u662f\u56e0\u4e3a\u80f8\u817a\u53d1\u80b2\u4e0d\u5168\uff0c\u201d\u533b\u5b66\u9662\u513f\u79d1\u5e72\u7ec6\u80de\u79fb\u690d\u548c\u518d\u751f\u533b\u5b66\u52a9\u7406\u6559\u6388\u3001\u8be5\u8054\u76df\u9879\u76ee\u8d1f\u8d23\u4eba Katja Weinacht \u533b\u5b66\u535a\u58eb\u3001\u54f2\u5b66\u535a\u58eb\u8bf4\u9053\u3002<\/p>\n<p>\u201c22q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u514d\u75ab\u7f3a\u9677\u8868\u73b0\u591a\u79cd\u591a\u6837\uff0c\u4ece\u8f7b\u5fae\u7684\u8fc7\u654f\u5230\u81ea\u8eab\u514d\u75ab\u6027\u75be\u75c5\uff0c\u518d\u5230\u514d\u75ab\u7cfb\u7edf\u5b8c\u5168\u5d29\u6e83\uff0c\u4e0d\u4e00\u800c\u8db3\uff0c\u201d\u97e6\u7eb3\u8d6b\u7279\u8bf4\u3002\u201c\u5728\u60a3\u6709\u6700\u4e25\u91cd22q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u513f\u7ae5\u4e2d\uff0c\u67091%\u52302%\u7684\u4eba\u5929\u751f\u6ca1\u6709\u80f8\u817a\uff0c\u201d\u80f8\u817a\u662f\u514d\u75ab\u7cfb\u7edf\u4e2d\u8d77\u7740\u81f3\u5173\u91cd\u8981\u4f5c\u7528\u7684\u5c0f\u817a\u4f53\u3002\u8fd9\u4e9b\u5b69\u5b50\u5b8c\u5168\u6ca1\u6709\u514d\u75ab\u7cfb\u7edf\uff0c\u56e0\u6b64\u5b8c\u5168\u65e0\u6cd5\u62b5\u6297\u611f\u67d3\u3002<\/p>\n<p>\u9b4f\u7eb3\u8d6b\u7279\u7684\u5b9e\u9a8c\u5ba4\u6b63\u5728\u8ffd\u6c42\u4e00\u4e2a\u5927\u80c6\u7684\u76ee\u6807\u2014\u2014\u8ba9\u8fd9\u4e9b\u5b69\u5b50\u62e5\u6709\u529f\u80fd\u6b63\u5e38\u7684\u80f8\u817a\u548c\u5065\u5eb7\u7684\u514d\u75ab\u7cfb\u7edf\u3002\u5979\u7684\u56e2\u961f\u6b63\u81f4\u529b\u4e8e\u5229\u7528\u6765\u81ea22q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u60a3\u8005\u7684\u8bf1\u5bfc\u591a\u80fd\u5e72\u7ec6\u80de\u6765\u91cd\u5efa\u80f8\u817a\u4e0a\u76ae\u7ec6\u80de\u3002\u8be5\u56e2\u961f\u5728\u5f00\u53d1\u4e00\u79cd\u6f5c\u5728\u7684\u65b0\u7597\u6cd5\u65b9\u9762\u53d6\u5f97\u4e86\u4ee4\u4eba\u9f13\u821e\u7684\u8fdb\u5c55\u2014\u2014\u5c06\u8fd9\u4e9b\u5408\u6210\u7684\u3001\u529f\u80fd\u9f50\u5168\u7684\u518d\u751f\u80f8\u817a\u7ec4\u7ec7\u79fb\u690d\u56de\u60a3\u8005\u4f53\u5185\uff0c\u4ee5\u91cd\u5efa\u80fd\u591f\u4ea7\u751f\u5bf9\u6297\u611f\u67d3\u6240\u9700T\u7ec6\u80de\u7684\u80f8\u817a\u3002<\/p>\n<h3>\u771f\u6b63\u80fd\u6301\u7eed\u5e26\u6765\u60ca\u559c\u7684\u793c\u7269<\/h3>\n<p>\u201c\u5bf9\u4e8e\u60a3\u8005\u53ca\u5176\u5bb6\u4eba\u6765\u8bf4\uff0c\u542c\u523022q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u8bca\u65ad\u7ed3\u679c\u4f1a\u5f7b\u5e95\u6539\u53d8\u4ed6\u4eec\u7684\u751f\u6d3b\uff0c\u201d\u5e15\u65af\u5361\u8bf4\u3002\u201c\u6211\u5e0c\u671b\u6211\u4eec\u80fd\u591f\u4e3a\u4e00\u9879\u7a81\u7834\u6027\u8fdb\u5c55\u505a\u51fa\u8d21\u732e\uff0c\u8fd9\u9879\u7a81\u7834\u5c06\u4e3a\u4e34\u5e8a\u8bd5\u9a8c\u63d0\u4f9b\u4fe1\u606f\uff0c\u5e76\u5927\u5927\u52a0\u5feb\u8fd9\u4e00\u9886\u57df\u7684\u7814\u7a76\u8fdb\u7a0b\u3002\u201d<\/p>\n<p>\u5982\u679c\u6ca1\u6709\u6148\u5584\u6350\u52a9\uff0c\u79d1\u7814\u7a81\u7834\u53ca\u5176\u53d1\u751f\u7684\u901f\u5ea6\u662f\u4e0d\u53ef\u80fd\u5b9e\u73b0\u7684\u3002\u201c\u6350\u52a9\u8005\u7684\u652f\u6301\u51b3\u5b9a\u4e86\u8fd9\u9879\u7814\u7a76\u662f\u9700\u8981\u8017\u8d39\u591a\u5e74\u65f6\u95f4\uff0c\u8fd8\u662f\u80fd\u591f\u5feb\u901f\u63a8\u8fdb\u5e76\u5c3d\u5feb\u627e\u5230\u7b54\u6848\uff0c\u201d\u5e15\u65af\u5361\u8bf4\u9053\u3002<\/p>\n<p>\u6350\u52a9\u8005\u7684\u652f\u6301\u4f7f\u65af\u5766\u798f\u5927\u5b66\u5728\u7f8e\u56fd\u4e43\u81f3\u56fd\u9645\u4e0a22q11.2\u7f3a\u5931\u7efc\u5408\u5f81\u7684\u7814\u7a76\u9886\u57df\u5904\u4e8e\u9886\u5148\u5730\u4f4d\u3002\u201c\u7531\u4e8e\u6211\u4eec\u83b7\u5f97\u4e86\u8fd9\u7b14\u8d44\u91d1\uff0c\u51e0\u4e2a\u5b9e\u9a8c\u5ba4\u5f00\u59cb\u5408\u4f5c\uff0c\u5171\u4eab\u5de5\u5177\u548c\u7814\u7a76\u6210\u679c\uff0c\u5171\u540c\u62fc\u51d1\u51fa\u95ee\u9898\u7684\u7b54\u6848\uff0c\u201d\u97e6\u7eb3\u8d6b\u7279\u8bf4\u3002\u201c\u611f\u8c22\u4e4c\u4f0a\u6ed5\u82cf-\u6c49\u5bc6\u5c14\u987f\u5bb6\u65cf\u7684\u6177\u6168\u652f\u6301\uff0c\u65af\u5766\u798f\u5927\u5b66\u53ca\u5176\u4ed6\u673a\u6784\u7684\u8de8\u5b66\u79d122q11\u7814\u7a76\u84ec\u52c3\u53d1\u5c55\uff0c\u4e3a\u9700\u8981\u5e2e\u52a9\u7684\u513f\u7ae5\u548c\u5bb6\u5ead\u5e26\u6765\u4e86\u65b0\u7684\u5e0c\u671b\u3002\u201d<\/p>\n<p>&nbsp;<\/p>\n<p>\u8981\u4e86\u89e3\u66f4\u591a\u5173\u4e8e 22q11.2 \u7f3a\u5931\u7efc\u5408\u5f81\u7684\u4fe1\u606f\uff0c\u8bf7\u9605\u8bfb <a 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