{"id":16575,"date":"2026-01-19T05:34:05","date_gmt":"2026-01-19T05:34:05","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16575"},"modified":"2026-01-20T02:24:20","modified_gmt":"2026-01-20T02:24:20","slug":"11q22-2-q22-3-microdeletion-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/11q22-2-q22-3-microdeletion-syndrome\/","title":{"rendered":"11q22.2-q22.3 microdeletion 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>Monosomy 11q22.2q22.3<\/li>\n\n\n\n<li>Del(11)(q22.2q22.3)<\/li>\n\n\n\n<li>11q22.2-q22.3 deletion syndrome\uff0811\u756a\u67d3\u8272\u4f53\u9577\u8155q22.2\u301cq22.3\u9818\u57df\u306e\u6b20\u5931\u75c7\u5019\u7fa4\uff09<br>\u203b\u73fe\u5728\u306e\u7406\u89e3\u3067\u306f\u3001\u30d2\u30c8\u67d3\u8272\u4f53\u306e11\u756a\u67d3\u8272\u4f53\u9577\u8155\u5185\u306e\u6bd4\u8f03\u7684\u72ed\u3044\u9818\u57df\u304c\u6b20\u5931\u3059\u308b\u3053\u3068\u3067\u767a\u75c7\u3059\u308b <strong>\u6975\u3081\u3066\u7a00\u306a\u5fae\u5c0f\u6b20\u5931\uff08microdeletion\uff09<\/strong> \u3067\u3059\u3002(<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/444002?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/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>\u30d2\u30c8\u7b2c11\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff0922.2\u301cq22.3<\/strong> \u306e\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u67d3\u8272\u4f53\u7570\u5e38\u3067\u3059\u3002<br>\u3053\u306e\u9818\u57df\u306f\u3001\u8907\u6570\u306e\u6b63\u5e38\u767a\u9054\u306b\u95a2\u308f\u308b\u907a\u4f1d\u5b50\u3092\u542b\u3080\u9818\u57df\u3067\u3001\u6b20\u5931\u304c\u3042\u308b\u3068\u305d\u308c\u3089\u306e\u907a\u4f1d\u5b50\u304c <strong>1\u30b3\u30d4\u30fc\u6b20\u640d\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09<\/strong> \u3068\u306a\u308a\u307e\u3059\u3002<br>\u6b20\u5931\u306e\u7bc4\u56f2\u306f\u75c7\u4f8b\u306b\u3088\u3063\u3066\u7570\u306a\u308a\u307e\u3059\u304c\u3001\u4e00\u822c\u7684\u306b <strong>\u3053\u306e\u9818\u57df\u3092\u307e\u305f\u3050\u9023\u7d9a\u6b20\u5931\uff08contiguous deletion\uff09<\/strong> \u3068\u3057\u3066\u898b\u3064\u304b\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002(<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/444002?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>11q22.2-q22.3 microdeletion syndrome \u306f <strong>\u6975\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u75be\u60a3<\/strong> \u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e16\u754c\u7684\u306a\u75ab\u5b66\u30c7\u30fc\u30bf\u3067\u306f\u3001 <strong>\u767a\u751f\u983b\u5ea6\u306f 1,000,000\u4eba\u306b1\u4eba\u672a\u6e80<\/strong> \u3068\u63a8\u5b9a\u3055\u308c\u3066\u3044\u307e\u3059\uff080.0001\uff05\u672a\u6e80\uff09\u3002(<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/444002?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n\n\n\n<li>\u5b9f\u969b\u306e\u60a3\u8005\u4f8b\u306f\u975e\u5e38\u306b\u5c11\u306a\u304f\u3001\u75c7\u4f8b\u5831\u544a\u3084\u5e0c\u5c11\u75be\u60a3\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u306b\u6563\u898b\u3055\u308c\u308b\u7a0b\u5ea6\u3067\u3001\u4e00\u822c\u51fa\u751f\u96c6\u56e3\u306b\u304a\u3051\u308b\u6b63\u78ba\u306a\u983b\u5ea6\u306f\u78ba\u7acb\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002(<a href=\"https:\/\/www.malacards.org\/card\/11q222q223_microdeletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306a\u5e0c\u5c11\u6027\u306e\u305f\u3081\u3001\u75c5\u614b\u3084\u8868\u73fe\u578b\u306f\u5b8c\u5168\u306b\u306f\u660e\u3089\u304b\u306b\u306a\u3063\u3066\u304a\u3089\u305a\u3001\u500b\u3005\u306e\u75c7\u4f8b\u3092\u7a4d\u307f\u91cd\u306d\u3066\u7406\u89e3\u304c\u9032\u3081\u3089\u308c\u3066\u3044\u308b\u6bb5\u968e\u3067\u3059\u3002<\/p>\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>11q22.2-q22.3 microdeletion syndrome \u306e\u75c7\u72b6\u306f\u591a\u5c90\u306b\u308f\u305f\u308a\u3001\u795e\u7d4c\u767a\u9054\u3001\u8eab\u4f53\u7684\u7279\u5fb4\u3001\u884c\u52d5\u9762\u306a\u3069\u306b\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u4ee5\u4e0b\u306f\u8907\u6570\u306e\u60c5\u5831\u6e90\u306b\u57fa\u3065\u304f\u4e3b\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u306e\u6982\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u30fb\u77e5\u7684\u6a5f\u80fd\u9762<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u767a\u9054\u9045\u5ef6\uff08Developmental delay\uff09<\/strong>\uff1a\u4e73\u5150\u671f\u301c\u5e7c\u5150\u671f\u306b\u304b\u3051\u3066\u904b\u52d5\u6a5f\u80fd\u3084\u8a00\u8a9e\u767a\u9054\u306e\u9045\u308c\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21858\/11q222q223-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li><strong>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\uff08Intellectual disability\uff09<\/strong>\uff1a\u77e5\u7684\u6a5f\u80fd\u304c\u5e73\u5747\u3088\u308a\u4f4e\u304f\u3001\u5b66\u7fd2\u3084\u65e5\u5e38\u306e\u9069\u5fdc\u9762\u306b\u56f0\u96e3\u3092\u62b1\u3048\u308b\u3053\u3068\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/www.malacards.org\/card\/11q222q223_microdeletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li><strong>\u6ce8\u610f\u6301\u7d9a\u56f0\u96e3\uff08Short attention span\uff09<\/strong> \u3084 <strong>\u4e0d\u5b89\u50be\u5411\uff08Anxiety\uff09<\/strong> \u304c\u4f75\u767a\u3059\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21858\/11q222q223-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u795e\u7d4c\u767a\u9054\u75c7\u72b6\u306f\u3001\u6b20\u5931\u9818\u57df\u5185\u306b\u5b58\u5728\u3059\u308b\u907a\u4f1d\u5b50\u306e\u30cf\u30d7\u30ed\u4e0d\u5168\u304c\u795e\u7d4c\u7e01\u767a\u9054\u3084\u30b7\u30ca\u30d7\u30b9\u5f62\u6210\u3001\u5b66\u7fd2\uff0f\u8a18\u61b6\u6a5f\u80fd\u306b\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u304c\u539f\u56e0\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\uff08\u8a73\u7d30\u306a\u5019\u88dc\u907a\u4f1d\u5b50\u306f\u73fe\u5728\u306e\u30c7\u30fc\u30bf\u30d9\u30fc\u30b9\u3067\u306f\u7279\u5b9a\u4f8b\u304c\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u7814\u7a76\u306e\u5bfe\u8c61\u3068\u3057\u3066\u6319\u304c\u3063\u3066\u3044\u307e\u3059\uff09\u3002(<a href=\"https:\/\/www.malacards.org\/card\/11q222q223_microdeletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<br><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>2. \u8eab\u4f53\u6210\u9577\u30fb\u7b4b\u7dca\u5f35<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u4f4e\u8eab\u9577\uff08Short stature\uff09<\/strong>\uff1a\u51fa\u751f\u5f8c\u306e\u6210\u9577\u304c\u5e73\u5747\u3088\u308a\u9045\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21858\/11q222q223-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li><strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08Hypotonia\uff09<\/strong>\uff1a\u5168\u8eab\u306e\u7b4b\u8089\u304c\u901a\u5e38\u3088\u308a\u7de9\u304f\u3001\u52d5\u4f5c\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3001\u9996\u304c\u5ea7\u308a\u306b\u304f\u3044\u3001\u59ff\u52e2\u306e\u4fdd\u6301\u304c\u56f0\u96e3\u306a\u3069\u306e\u75c7\u72b6\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21858\/11q222q223-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306f\u4ed6\u306e\u591a\u304f\u306e\u5fae\u5c0f\u6b20\u5931\u75c7\u5019\u7fa4\u3067\u3082\u898b\u3089\u308c\u308b\u75c7\u72b6\u3067\u3001\u904b\u52d5\u767a\u9054\u306e\u9045\u5ef6\u306b\u3064\u306a\u304c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<br><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>3. \u9854\u8c8c\u30fb\u5f62\u614b\u7684\u7279\u5fb4<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\u7570\u5e38\uff08Dysmorphic facial features\uff09<\/strong>\uff1a\u5e73\u5766\u306a\u9854\u3064\u304d\u3001\u773c\u306e\u4f4d\u7f6e\u7570\u5e38\u3001\u4f4e\u3044\u8033\u3001\u77ed\u3044\u984e\u306a\u3069\u306e\u5fae\u5999\u306a\u5f62\u614b\u5909\u5316\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21858\/11q222q223-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u8a3a\u65ad\u306e\u6c7a\u3081\u624b\u306b\u306a\u308b\u307b\u3069\u660e\u77ad\u3067\u306a\u3044\u5834\u5408\u3082\u3042\u308a\u3001\u500b\u3005\u306e\u75c7\u4f8b\u306b\u3088\u3063\u3066\u8868\u73fe\u578b\u306b\u306f\u3070\u3089\u3064\u304d\u304c\u3042\u308a\u307e\u3059\u3002\u75c7\u72b6\u304c\u91cd\u306a\u308b\u5225\u306e\u67d3\u8272\u4f53\u7570\u5e38\u75be\u60a3\u3068\u306e\u9451\u5225\u304c\u5fc5\u8981\u306a\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<br><\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>4. \u884c\u52d5\u30fb\u5fc3\u7406\u9762<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u6ce8\u610f\u6b20\u5982\u3001\u843d\u3061\u7740\u304d\u306e\u306a\u3055<\/strong> \u3084 <strong>\u4e0d\u5b89\u50be\u5411<\/strong> \u306a\u3069\u884c\u52d5\u9762\u306e\u8ab2\u984c\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002(<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21858\/11q222q223-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li><strong>\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u69d8\u884c\u52d5<\/strong> \u3092\u793a\u3059\u4f8b\u3082\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u78ba\u7acb\u7684\u3067\u306f\u306a\u304f <strong>\u53ef\u5909\u7684\u306a\u75c7\u72b6<\/strong> \u3068\u3057\u3066\u6271\u308f\u308c\u307e\u3059\u3002(<a href=\"https:\/\/monarchinitiative.org\/MONDO%3A0018632?utm_source=chatgpt.com\">\u30e2\u30ca\u30fc\u30af\u30a4\u30cb\u30b7\u30a2\u30c1\u30d6<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>11q22.2-q22.3 microdeletion syndrome \u306e\u6839\u672c\u7684\u306a\u539f\u56e0\u306f <strong>\u67d3\u8272\u4f53 11 \u306e q22.2\u301cq22.3 \u9818\u57df\u306e\u6b20\u5931\uff08microdeletion\uff09<\/strong> \u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u67d3\u8272\u4f53\u6b20\u5931\u306b\u3088\u308b\u30cf\u30d7\u30ed\u4e0d\u5168<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u304c\u8d77\u3053\u308b\u3068\u3001\u6b20\u5931\u9818\u57df\u5185\u306b\u542b\u307e\u308c\u3066\u3044\u308b\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c <strong>1\u30b3\u30d4\u30fc\u4e0d\u5341\u5206\uff08\u30cf\u30d7\u30ed\u4e0d\u5168\uff09<\/strong> \u306e\u72b6\u614b\u306b\u306a\u308a\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u30b3\u30d4\u30fc\u6570\u306e\u5909\u5316\u304c\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3057\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u795e\u7d4c\u767a\u9054\u306b\u95a2\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u306e\u4e0d\u8db3 \u2192 \u767a\u9054\u9045\u5ef6\u3084\u77e5\u7684\u969c\u5bb3<\/li>\n\n\n\n<li>\u6210\u9577\u5236\u5fa1\u306b\u95a2\u4e0e\u3059\u308b\u7d4c\u8def\u306e\u5909\u5316 \u2192 \u4f4e\u8eab\u9577\u3084\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u306a\u3069<\/li>\n\n\n\n<li>\u8868\u73fe\u578b\u5f62\u6210\u306b\u5bc4\u4e0e\u3059\u308b\u907a\u4f1d\u5b50\u306e\u6b20\u5982 \u2192 \u9854\u8c8c\u7570\u5e38\u3084\u884c\u52d5\u9762\u3078\u306e\u5f71\u97ff<\/li>\n<\/ul>\n\n\n\n<p>\u306a\u304a\u3001\u6b20\u5931\u306f\u307b\u3068\u3093\u3069\u306e\u5834\u5408 <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3068\u3057\u3066\u767a\u751f\u3057\u307e\u3059\u3002\u3053\u308c\u306f\u4e21\u89aa\u306e\u67d3\u8272\u4f53\u914d\u5217\u304c\u6b63\u5e38\u3067\u3042\u3063\u3066\u3082\u3001\u53d7\u7cbe\u5375\u5f62\u6210\u6642\u3084\u521d\u671f\u767a\u751f\u904e\u7a0b\u3067\u7a81\u767a\u7684\u306b\u6b20\u5931\u304c\u751f\u3058\u308b\u3053\u3068\u3092\u610f\u5473\u3057\u307e\u3059\u3002\u5bb6\u65cf\u6027\u4f1d\u64ad\u306f\u6975\u3081\u3066\u7a00\u3067\u3059\u3002(<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/444002?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/p>\n\n\n\n<p><strong>2. \u6b20\u5931\u306e\u691c\u51fa<\/strong><\/p>\n\n\n\n<p>\u3053\u306e\u6b20\u5931\u306f\u975e\u5e38\u306b\u5c0f\u3055\u3044\u305f\u3081\u3001\u901a\u5e38\u306e\u67d3\u8272\u4f53\u691c\u67fb\uff08G\u30d0\u30f3\u30c9\u67d3\u8272\u4f53\u5206\u6790\uff09\u3067\u306f\u691c\u51fa\u304c\u56f0\u96e3\u3067\u3059\u3002\u5fae\u7d30\u6b20\u5931\u3092\u78ba\u5b9a\u3059\u308b\u306b\u306f\u3001\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u89e3\u6790\uff08CMA\uff09\u3084\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff08aCGH\uff09\u306a\u3069\u306e <strong>\u9ad8\u89e3\u50cf\u5ea6\u30b2\u30ce\u30e0\u691c\u67fb<\/strong> \u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5\uff08\u7ba1\u7406\u30fb\u652f\u63f4\uff09<\/strong><\/h2>\n\n\n\n<p>11q22.2-q22.3 microdeletion syndrome \u306b\u5bfe\u3057\u3066 <strong>\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\u306f\u5b58\u5728\u3057\u307e\u305b\u3093<\/strong>\u3002\u6cbb\u7642\u306f <strong>\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u652f\u6301\u7642\u6cd5\uff08supportive care\uff09<\/strong> \u3068 <strong>\u591a\u8077\u7a2e\u9023\u643a\u306e\u5305\u62ec\u7684\u652f\u63f4<\/strong> \u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u7406\u5b66\u7642\u6cd5\uff08Physical therapy\uff09<\/strong><strong><br><\/strong>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u904b\u52d5\u767a\u9054\u9045\u5ef6\u306b\u5bfe\u3059\u308b\u4ecb\u5165\u3002<\/li>\n\n\n\n<li><strong>\u8a00\u8a9e\u7642\u6cd5\uff08Speech therapy\uff09<\/strong><strong><br><\/strong>\u8a00\u8a9e\u9045\u5ef6\u3084\u30b3\u30df\u30e5\u30cb\u30b1\u30fc\u30b7\u30e7\u30f3\u652f\u63f4\u3002<\/li>\n\n\n\n<li><strong>\u4f5c\u696d\u7642\u6cd5\uff08Occupational therapy\uff09<\/strong><strong><br><\/strong>\u65e5\u5e38\u751f\u6d3b\u52d5\u4f5c\u306e\u7fd2\u5f97\u652f\u63f4\u3002<\/li>\n<\/ul>\n\n\n\n<p>\u65e9\u671f\u304b\u3089\u306e\u7642\u80b2\u30fb\u652f\u63f4\u304c\u3001\u904b\u52d5\u30fb\u8a00\u8a9e\u80fd\u529b\u306e\u767a\u9054\u3092\u4fc3\u3057\u3001\u751f\u6d3b\u306e\u8cea\u306e\u5411\u4e0a\u306b\u5bc4\u4e0e\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>2. \u884c\u52d5\u30fb\u5fc3\u7406\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u884c\u52d5\u7642\u6cd5<\/strong> \u3084 <strong>\u5fc3\u7406\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><strong><br><\/strong>\u6ce8\u610f\u56f0\u96e3\u3084\u4e0d\u5b89\u50be\u5411\u304c\u3042\u308b\u5834\u5408\u3001\u5c02\u9580\u8077\u306b\u3088\u308b\u884c\u52d5\u9762\u306e\u30b5\u30dd\u30fc\u30c8\u304c\u6709\u52b9\u3067\u3059\u3002<\/li>\n\n\n\n<li><strong>\u6559\u80b2\u652f\u63f4<\/strong><strong><br><\/strong>\u767a\u9054\u30ec\u30d9\u30eb\u306b\u5408\u308f\u305b\u305f\u7279\u6b8a\u6559\u80b2\u3084\u5b66\u7fd2\u30d7\u30ed\u30b0\u30e9\u30e0\u306e\u5c0e\u5165\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>3. \u5065\u5eb7\u7ba1\u7406\u30fb\u5408\u4f75\u75c7\u5bfe\u5fdc<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5b9a\u671f\u7684\u306a <strong>\u8eab\u4f53\u767a\u80b2\u8a55\u4fa1<\/strong><strong><br><\/strong>\u6210\u9577\u66f2\u7dda\u3084\u6804\u990a\u72b6\u614b\u3092\u8a55\u4fa1\u3057\u3001\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u533b\u7642\u7684\u4ecb\u5165\u3092\u884c\u3044\u307e\u3059\u3002<\/li>\n\n\n\n<li>\u4ed6\u306e\u5408\u4f75\u75c7\u304c\u3042\u308b\u5834\u5408\u306f\u3001\u8a72\u5f53\u5c02\u9580\u79d1\uff08\u5fc3\u81d3\u3001\u8033\u9f3b\u54bd\u5589\u3001\u773c\u79d1\u7b49\uff09\u3068\u9023\u643a\u3057\u3066\u6cbb\u7642\u8a08\u753b\u3092\u7acb\u3066\u307e\u3059\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>4. \u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u306e\u539f\u56e0\u3001\u5c06\u6765\u306e\u598a\u5a20\u30fb\u5bb6\u65cf\u8a08\u753b\u306b\u3064\u3044\u3066 <strong>\u5c02\u9580\u7684\u306a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong> \u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/li>\n\n\n\n<li>\u6b20\u5931\u306f\u901a\u5e38 de novo \u3067\u3042\u308b\u305f\u3081\u3001\u89aa\u3078\u306e\u518d\u767a\u30ea\u30b9\u30af\u306f\u4f4e\u3044\u3067\u3059\u304c\u3001\u500b\u5225\u8a55\u4fa1\u304c\u5fc5\u8981\u3067\u3059\u3002(<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/444002?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>11q22.2-q22.3 microdeletion syndrome<\/strong> \u306f\u3001\u30d2\u30c8\u67d3\u8272\u4f5311\u756a\u306e\u9577\u8155\uff08q\uff0922.2\u301cq22.3\u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\u306b\u3088\u3063\u3066\u751f\u3058\u308b\u6975\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4\u3067\u3059\u3002\u4e3b\u306b <strong>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u77e5\u7684\u969c\u5bb3\u3001\u767a\u9054\u9045\u5ef6\u3001\u4f4e\u8eab\u9577\u3001\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3001\u7279\u5fb4\u7684\u306a\u9854\u8c8c<\/strong> \u306a\u3069\u306e\u75c7\u72b6\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u6ce8\u610f\u6b20\u5982\u3084\u4e0d\u5b89\u50be\u5411\u306a\u3069\u5fc3\u7406\u30fb\u884c\u52d5\u9762\u306e\u8ab2\u984c\u3082\u307f\u3089\u308c\u308b\u4e00\u65b9\u3001\u75c7\u72b6\u306e\u7a0b\u5ea6\u306b\u306f\u5927\u304d\u306a\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u306e\u3068\u3053\u308d <strong>\u6839\u672c\u6cbb\u7642\u6cd5\u306f\u306a\u304f<\/strong>\u3001\u652f\u63f4\u306f <strong>\u75c7\u72b6\u306b\u5fdc\u3058\u305f\u591a\u8077\u7a2e\u306b\u3088\u308b\u652f\u6301\u7642\u6cd5<\/strong> \u304c\u4e2d\u5fc3\u3067\u3059\u3002\u7406\u5b66\u7642\u6cd5\u30fb\u8a00\u8a9e\u7642\u6cd5\u30fb\u4f5c\u696d\u7642\u6cd5\u306a\u3069\u306e\u767a\u9054\u652f\u63f4\u306b\u52a0\u3048\u3001\u884c\u52d5\u9762\u3084\u5b66\u7fd2\u652f\u63f4\u3001\u5b9a\u671f\u7684\u306a\u5065\u5eb7\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u304c\u5fc5\u8981\u3067\u3059\u3002\u307e\u305f\u3001\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3092\u901a\u3058\u3066\u6b20\u5931\u306e\u7531\u6765\u3084\u5c06\u6765\u306e\u5bb6\u65cf\u8a08\u753b\u306b\u3064\u3044\u3066\u7406\u89e3\u3092\u6df1\u3081\u308b\u3053\u3068\u304c\u63a8\u5968\u3055\u308c\u307e\u3059\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>NIH Genetic and Rare Diseases Information Center (GARD): 11q22.2q22.3 microdeletion syndrome \u2014 Summary and clinical features.<\/strong> (<a href=\"https:\/\/rarediseases.info.nih.gov\/diseases\/21858\/11q222q223-microdeletion-syndrome?utm_source=chatgpt.com\">\u5e0c\u5c11\u75be\u60a3\u60c5\u5831\u30bb\u30f3\u30bf\u30fc<\/a>)<\/li>\n\n\n\n<li><strong>Orphanet: 11q22.2q22.3 microdeletion syndrome (ORPHA:444002) \u2014 Prevalence, definition, and phenotype.<\/strong> (<a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/444002?utm_source=chatgpt.com\">Orpha.net<\/a>)<\/li>\n\n\n\n<li><strong>Malacards: 11q22.2q22.3 microdeletion syndrome \u2014 Rare disease profile including symptoms and traits.<\/strong> (<a href=\"https:\/\/www.malacards.org\/card\/11q222q223_microdeletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li><strong>NCBI MedGen: 11q22.2q22.3 microdeletion syndrome description via SNOMED CT.<\/strong><\/li>\n<\/ul>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem !important;\n}\n<\/style>\n","protected":false},"featured_media":0,"template":"","class_list":["post-16575","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\/16575","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\/16575\/revisions"}],"predecessor-version":[{"id":16763,"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/genetic-screening\/16575\/revisions\/16763"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/gene\/wp-json\/wp\/v2\/media?parent=16575"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}