{"id":89769,"date":"2025-01-14T17:03:44","date_gmt":"2025-01-14T08:03:44","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=89769"},"modified":"2025-08-26T11:28:40","modified_gmt":"2025-08-26T02:28:40","slug":"nablus-mask-like-facial-syndrome-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-overview\/","title":{"rendered":"\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u75c7\u5019\u7fa4\uff08NMLFS; Nablus mask-like facial syndrome\uff09"},"content":{"rendered":"\n<div style=\"border:solid #ffe6e6 0.8rem;background-color: #fff9f9;padding:3% 5%;margin:1rem 0 3rem;\"><h2 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ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-overview\/#%E2%96%A0_%E7%9C%BC%E7%9E%BC%E9%BC%BB%E9%A1%94%E9%9D%A2%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AE%E9%96%A2%E9%80%A3%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\" >\u25a0 \u773c\u77bc\u9f3b\u9854\u9762\u75c7\u5019\u7fa4\u3068\u306e\u95a2\u9023\u306b\u3064\u3044\u3066<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-20\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-overview\/#%E2%96%A0_%E8%A1%8C%E5%8B%95%E7%9A%84%E7%89%B9%E5%BE%B4%E3%81%AE%E8%A8%98%E8%BC%89%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\" >\u25a0 \u884c\u52d5\u7684\u7279\u5fb4\u306e\u8a18\u8f09\u306b\u3064\u3044\u3066<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-overview\/#%E2%96%A0_%E7%94%9F%E6%AE%96%E5%99%A8%E7%95%B0%E5%B8%B8%E3%81%AE%E8%A8%98%E8%BC%89%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\" >\u25a0 \u751f\u6b96\u5668\u7570\u5e38\u306e\u8a18\u8f09\u306b\u3064\u3044\u3066<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-overview\/#%E2%96%A0_%E4%BB%98%E9%9A%8F%E7%9A%84%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%AE%E6%89%B1%E3%81%84%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\" >\u25a0 \u4ed8\u968f\u7684\u306a\u75c7\u72b6\u306e\u6271\u3044\u306b\u3064\u3044\u3066<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-overview\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\" >\u5f15\u7528\u6587\u732e<\/a><\/li><\/ul><\/nav><\/div>\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E6%B0%97%E3%81%AE%E5%88%A5%E7%A7%B0\"><\/span>\u75c5\u6c17\u306e\u5225\u79f0<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u75c7\u5019\u7fa4\uff08Nablus Mask-Like Facial Syndrome; NMLFS\uff09<\/li>\n\n\n\n<li>8q22.1<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\uff088q22.1 microdeletion syndrome\uff09<\/li>\n\n\n\n<li>\u30e2\u30ce\u30bd\u30df\u30fc8q22.1\uff08Monosomy 8q22.1\uff09<\/li>\n\n\n\n<li>\u773c\u77bc\u9f3b\u9854\u9762\u75c7\u5019\u7fa4\uff08Blepharo-Naso-Facial Syndrome\uff09\u3068\u91cd\u8907\u3059\u308b\u53ef\u80fd\u6027\u3042\u308a<\/li>\n<\/ul>\n\n\n\n    <a href=\"\/nipt\/roberts-syndrome-esco2-overview\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\uff08ESCO2\u95a2\u9023\u30b3\u30d2\u30fc\u30b7\u30ce\u30d1\u30c1\u30fc\uff09\u3010ESCO2\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">\u624b\u8db3\u306e\u77ed\u7e2e\u3084\u6210\u9577\u306e\u9045\u308c\u3092\u7279\u5fb4\u3068\u3059\u308b\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u3002\u539f\u56e0\u3068\u306a\u308bESCO2\u907a\u4f1d\u5b50\u3084\u8a3a\u65ad\u30fb\u6cbb\u7642\u306e\u30dd\u30a4\u30f3\u30c8\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\u3057\u307e\u3059\u3002\uff5c\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E6%A6%82%E8%A6%81\"><\/span>\u75be\u60a3\u6982\u8981<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large is-resized\"><img decoding=\"async\" width=\"1024\" height=\"20\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/8q22.1-hgtIdeo_genome_2fe3ec_6162f0-1024x20.png\" alt=\"8q22.1\" class=\"wp-image-89772\" style=\"width:1024px;height:auto\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u75c7\u5019\u7fa4\uff08Nablus Mask-Like Facial Syndrome, NMLFS\uff09\u306f\u3001\u67d3\u8272\u4f538\u306e\u9577\u8155\uff088q\uff09\u306e\u3046\u30618q21.3\u301c8q22.1\u9818\u57df\u306b\u304a\u3051\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\uff08microdeletion\uff09\u3092\u539f\u56e0\u3068\u3059\u308b\u3001\u6975\u3081\u3066\u7a00\u306a\u5148\u5929\u6027\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3042\u308b\u3002\u672c\u75be\u60a3\u306f\u30012000\u5e74\u306b\u30d1\u30ec\u30b9\u30c1\u30ca\u30fb\u30ca\u30d6\u30eb\u30b9\u51fa\u8eab\u306e\u7537\u5150\u306b\u304a\u3044\u3066\u3001\u30a2\u30d5\u30de\u30c9\u30fb\u30c6\u30fc\u30d3\uff08Ahmad Teebi\uff09\u306b\u3088\u3063\u3066\u521d\u3081\u3066\u5831\u544a\u3055\u308c\u3001\u305d\u306e\u5f8c\u306e\u8ffd\u8de1\u8abf\u67fb\u304a\u3088\u3073\u75c7\u4f8b\u5831\u544a\u306b\u3088\u308a\u3001\u56fa\u6709\u306e\u9854\u8c8c\u7279\u5fb4\u3068\u4e00\u5b9a\u306e\u767a\u9054\u7684\u30fb\u69cb\u9020\u7684\u7570\u5e38\u304c\u5171\u901a\u3057\u3066\u78ba\u8a8d\u3055\u308c\u305f\u3053\u3068\u304b\u3089\u3001\u72ec\u7acb\u3057\u305f\u75c7\u5019\u7fa4\u3068\u3057\u3066\u56fd\u969b\u7684\u306b\u8a8d\u8b58\u3055\u308c\u308b\u306b\u81f3\u3063\u305f\u3002<\/p>\n\n\n\n<p>\u672c\u75c7\u5019\u7fa4\u306f\u3001\u300c\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u75c7\u5019\u7fa4\u300d\u306e\u540d\u79f0\u306e\u901a\u308a\u3001\u6700\u3082\u9855\u8457\u306a\u81e8\u5e8a\u7684\u7279\u5fb4\u306f\u4eee\u9762\u3092\u7740\u3051\u305f\u304b\u306e\u3088\u3046\u306a\u7121\u8868\u60c5\u304b\u3064\u7dca\u5f35\u3057\u305f\u9854\u8c8c\uff08mask-like facial appearance\uff09\u3067\u3042\u308b\u3002\u3053\u308c\u306f\u3001\u3044\u304f\u3064\u304b\u306e\u7279\u7570\u7684\u306a\u982d\u84cb\u9854\u9762\u5f62\u614b\u7570\u5e38\u304c\u7d44\u307f\u5408\u308f\u3055\u308b\u3053\u3068\u3067\u8868\u73fe\u3055\u308c\u308b\u3082\u306e\u3067\u3042\u308a\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u6240\u898b\u304c\u7e70\u308a\u8fd4\u3057\u5831\u544a\u3055\u308c\u3066\u3044\u308b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u773c\u77bc\u88c2\u72ed\u5c0f\uff08blepharophimosis\uff09\uff1a\u773c\u306e\u958b\u53e3\u90e8\u304c\u6c34\u5e73\u65b9\u5411\u306b\u72ed\u304f\u3001\u5c0f\u3055\u304f\u898b\u3048\u308b\u3002<br><\/li>\n\n\n\n<li>\u9854\u9762\u76ae\u819a\u306e\u5149\u6ca2\u3068\u7dca\u5f35\uff08taut, glistening skin\uff09\uff1a\u7279\u306b\u9f3b\u90e8\u3092\u4e2d\u5fc3\u3068\u3057\u305f\u9854\u9762\u306e\u76ae\u819a\u304c\u5149\u6ca2\u3092\u3082\u3061\u3001\u5f3e\u529b\u6027\u3092\u6b20\u3044\u3066\u3044\u308b\u3002<br><\/li>\n\n\n\n<li>\u524d\u982d\u90e8\u306e\u6bdb\u9aea\u7570\u5e38\uff08upswept frontal hairline\uff09\uff1a\u984d\u306e\u4e2d\u592e\u90e8\u304b\u3089\u9006\u7acb\u3064\u3088\u3046\u306b\u6bdb\u9aea\u304c\u751f\u3048\u3066\u304a\u308a\u3001\u72ec\u7279\u306a\u9aea\u578b\u3092\u5448\u3059\u308b\u3002<br><\/li>\n\n\n\n<li>\u7709\u6bdb\u306e\u7570\u5e38\uff08sparse, arched eyebrows\uff09\uff1a\u5f13\u5f62\u3067\u8584\u304f\u307e\u3070\u3089\u306a\u7709\u6bdb\u3002<br><\/li>\n\n\n\n<li>\u9f3b\u306e\u7570\u5e38\uff08flat and broad nasal bridge, bulbous tip\uff09\uff1a\u9f3b\u6881\u304c\u5e73\u5766\u304b\u3064\u5e83\u304f\u3001\u9f3b\u5c16\u90e8\u304c\u7403\u72b6\u306b\u81a8\u3089\u3093\u3067\u3044\u308b\u3002<br><\/li>\n\n\n\n<li>\u4eba\u4e2d\u306e\u5ef6\u9577\uff08long, smooth philtrum\uff09\uff1a\u9f3b\u3068\u4e0a\u5507\u306e\u9593\u306b\u3042\u308b\u7e26\u6e9d\uff08\u4eba\u4e2d\uff09\u304c\u9577\u304f\u6ed1\u3089\u304b\u3002<br><\/li>\n\n\n\n<li>\u4e0b\u5507\u306e\u5916\u53cd\u3068\u5c0f\u984e\uff08everted lower lip and micrognathia\uff09\uff1a\u4e0b\u5507\u304c\u3081\u304f\u308c\u4e0a\u304c\u308b\u3088\u3046\u306b\u7a81\u51fa\u3057\u3001\u984e\u304c\u5c0f\u3055\u3044\uff08\u5c0f\u984e\u75c7\uff09\u3002<br><\/li>\n\n\n\n<li>\u4e0a\u984e\u4f4e\u5f62\u6210\uff08maxillary hypoplasia\uff09\uff1a\u4e0a\u984e\u306e\u767a\u80b2\u4e0d\u5168\u3002<br><\/li>\n\n\n\n<li>\u982c\u306e\u304f\u307c\u307f\uff08bilateral cheek dimples\uff09\uff1a\u4e21\u982c\u306b\u751f\u7406\u7684\u3067\u306f\u306a\u3044\u304f\u307c\u307f\u304c\u5f62\u6210\u3055\u308c\u308b\u3002<br><\/li>\n\n\n\n<li>\u8033\u4ecb\u7570\u5e38\uff08dysmorphic ears\uff09\uff1a\u8033\u306e\u5f62\u304c\u901a\u5e38\u3068\u7570\u306a\u308a\u3001\u8033\u8f2a\u304c\u672a\u5c55\u958b\u306a\u5f62\u614b\u3092\u793a\u3059\u3002<br><\/li>\n\n\n\n<li>\u967d\u6c17\u3067\u5e78\u305b\u305d\u3046\u306a\u8868\u60c5\uff08cheerful demeanor\uff09\uff1a\u591a\u304f\u306e\u5831\u544a\u4f8b\u306b\u304a\u3044\u3066\u3001\u60c5\u52d5\u7684\u306b\u660e\u308b\u304f\u3001\u4eba\u61d0\u3063\u3053\u3044\u6027\u683c\u304c\u5171\u901a\u3057\u3066\u89b3\u5bdf\u3055\u308c\u3066\u3044\u308b\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306a\u9854\u8c8c\u306e\u69cb\u6210\u8981\u7d20\u304c\u8907\u5408\u7684\u306b\u5b58\u5728\u3059\u308b\u3053\u3068\u306b\u3088\u308a\u3001\u300c\u4eee\u9762\u69d8\u306e\u9854\u8c8c\u300d\u3068\u3044\u3046\u6975\u3081\u3066\u7279\u5fb4\u7684\u306a\u5916\u89b3\u304c\u5f62\u6210\u3055\u308c\u308b\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u81e8\u5e8a\u7684\u983b\u5ea6\u306f\u6975\u3081\u3066\u7a00\u3067\u3042\u308a\u30012024\u5e74\u6642\u70b9\u306b\u304a\u3051\u308b\u4e16\u754c\u5168\u4f53\u306e\u5831\u544a\u75c7\u4f8b\u6570\u306f\u308f\u305a\u304b26\u4f8b\u7a0b\u5ea6\u306b\u3068\u3069\u307e\u308b\u3002\u305d\u306e\u3046\u3061\u3001\u5178\u578b\u7684\u306a\u9854\u8c8c\u3092\u5448\u3057\u305f\u75c7\u4f8b\u306f\u534a\u6570\u672a\u6e80\u306b\u904e\u304e\u305a\u3001\u540c\u4e00\u306e8q22.1\u6b20\u5931\u3092\u6301\u3064\u306b\u3082\u304b\u304b\u308f\u3089\u305a\u9854\u8c8c\u304c\u975e\u5178\u578b\u7684\u3067\u3042\u3063\u305f\u60a3\u8005\u3082\u8907\u6570\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u3002\u3053\u308c\u306b\u3088\u308a\u3001NMLFS\u306f\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027\uff08variable expressivity\uff09\u3092\u793a\u3059\u75be\u60a3\u3067\u3042\u308b\u3053\u3068\u304c\u793a\u5506\u3055\u308c\u3066\u304a\u308a\u3001\u75c7\u72b6\u306e\u6709\u7121\u3084\u7a0b\u5ea6\u306f\u60a3\u8005\u3054\u3068\u306b\u5927\u304d\u304f\u7570\u306a\u308b\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001NMLFS\u306f\u9854\u8c8c\u7570\u5e38\u306e\u307f\u306a\u3089\u305a\u3001\u591a\u7cfb\u7d71\u306b\u308f\u305f\u308b\u5148\u5929\u7684\u7570\u5e38\u3084\u767a\u9054\u969c\u5bb3\u3092\u4f34\u3046\u3053\u3068\u304c\u591a\u3044\u3002\u4ee5\u4e0b\u306b\u305d\u306e\u4ee3\u8868\u7684\u306a\u5168\u8eab\u7684\u75c7\u5019\u3092\u793a\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6210\u9577\u30fb\u795e\u7d4c\u767a\u9054\u9818\u57df\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u9045\u6ede\uff08motor and speech delay\uff09<br><\/li>\n\n\n\n<li>\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff08intellectual disability\uff09<br><\/li>\n\n\n\n<li>\u5c0f\u982d\u75c7\uff08microcephaly\uff09<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u7b4b\u9aa8\u683c\u7cfb\u30fb\u95a2\u7bc0\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08hypotonia\uff09<br><\/li>\n\n\n\n<li>\u95a2\u7bc0\u62d8\u7e2e\uff08joint contractures\uff09<br><\/li>\n\n\n\n<li>\u5c48\u6307\u75c7\uff08camptodactyly\uff09<br><\/li>\n\n\n\n<li>\u30b5\u30f3\u30c0\u30eb\u30ae\u30e3\u30c3\u30d7\uff08\u8db3\u8dbe\u9593\u9694\u306e\u958b\u5927\uff09<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u751f\u6b96\u5668\u7cfb\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u505c\u7559\u7cbe\u5de3\uff08cryptorchidism\uff09<br><\/li>\n\n\n\n<li>\u4f4e\u5f62\u6210\u6027\u9670\u56a2<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u53e3\u8154\u30fb\u8033\u9f3b\u54bd\u5589\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u4e0a\u984e\u7a81\u51fa\u3001\u30a2\u30fc\u30c1\u72b6\u53e3\u84cb<br><\/li>\n\n\n\n<li>\u7c98\u819c\u4e0b\u53e3\u84cb\u88c2\u3084\u5507\u88c2<br><\/li>\n\n\n\n<li>\u7570\u5e38\u6b6f\u5217\uff08\u6b6f\u306e\u5148\u5929\u6027\u6b20\u5982\u3001\u30a8\u30ca\u30e1\u30eb\u8cea\u4f4e\u5f62\u6210\u3001\u958b\u54ac\u306a\u3069\uff09<br><\/li>\n\n\n\n<li>\u984e\u5824\u306e\u80a5\u539a<br><\/li>\n\n\n\n<li>\u820c\u80a5\u5927\uff08macroglossia\uff09<br><\/li>\n\n\n\n<li>\u96e3\u8074\uff08sensorineural hearing loss\uff09<br><\/li>\n\n\n\n<li>\u5589\u982d\u8edf\u5316\u75c7\uff08laryngomalacia\uff09<br><\/li>\n<\/ul>\n<\/li>\n\n\n\n<li>\u305d\u306e\u4ed6\u306e\u81d3\u5668\u7cfb\u30fb\u5947\u5f62\uff1a<br>\n<ul class=\"wp-block-list\">\n<li>\u9f20\u5f84\u30d8\u30eb\u30cb\u30a2\u3001\u8179\u58c1\u30d8\u30eb\u30cb\u30a2\uff08\u4f8b\uff1aSpigelian hernia\uff09<br><\/li>\n\n\n\n<li>\u5fc3\u8840\u7ba1\u5947\u5f62\uff08\u52d5\u8108\u7ba1\u958b\u5b58\u306a\u3069\uff09<br><\/li>\n\n\n\n<li>\u8178\u56de\u8ee2\u7570\u5e38<br><\/li>\n<\/ul>\n<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u3001NMLFS\u306f\u591a\u5f69\u304b\u3064\u500b\u4f53\u5dee\u306e\u5927\u304d\u3044\u81e8\u5e8a\u50cf\u3092\u5448\u3059\u308b\u3053\u3068\u304c\u77e5\u3089\u308c\u3066\u304a\u308a\u3001\u8efd\u75c7\u304b\u3089\u91cd\u75c7\u307e\u3067\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u7684\u306b\u5206\u5e03\u3057\u3066\u3044\u308b\u3002\u307e\u305f\u3001\u8fd1\u5e74\u306e\u75c7\u4f8b\u5831\u544a\u3067\u306f\u3001\u6210\u4eba\u671f\u306b\u9032\u884c\u6027\u306e\u7b4b\u75be\u60a3\uff08\u30df\u30aa\u30d1\u30c1\u30fc\uff09\u3092\u5448\u3057\u305f\u75c7\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u5f93\u6765\u5c0f\u5150\u75c7\u4f8b\u4e2d\u5fc3\u3067\u3042\u3063\u305fNMLFS\u306e\u75c5\u614b\u304c\u3001\u5e74\u9f62\u4f9d\u5b58\u7684\u306b\u5909\u5316\u3057\u3046\u308b\u53ef\u80fd\u6027\u3082\u6307\u6458\u3055\u308c\u3064\u3064\u3042\u308b\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306a\u80cc\u666f\u3092\u3075\u307e\u3048\u3001NMLFS\u306f\u5358\u306a\u308b\u9854\u8c8c\u7570\u5e38\u306b\u3068\u3069\u307e\u3089\u305a\u3001\u5168\u8eab\u6027\u304b\u3064\u795e\u7d4c\u767a\u9054\u7684\u7ba1\u7406\u304c\u6c42\u3081\u3089\u308c\u308b\u5e0c\u5c11\u75be\u60a3\u3068\u3057\u3066\u306e\u8a8d\u8b58\u304c\u91cd\u8981\u3067\u3042\u308b\u3002\u8a3a\u65ad\u3068\u30b1\u30a2\u306b\u306f\u3001\u907a\u4f1d\u8a3a\u7642\u3001\u5c0f\u5150\u795e\u7d4c\u79d1\u3001\u6574\u5f62\u5916\u79d1\u3001\u6b6f\u79d1\u3001\u8033\u9f3b\u79d1\u3001\u5fc3\u7406\u652f\u63f4\u306a\u3069\u306e\u591a\u8077\u7a2e\u9023\u643a\u304c\u4e0d\u53ef\u6b20\u3067\u3042\u308b\u3002<\/p>\n\n\n\n<div style=\"height:14px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2025\/01\/22344705_s.jpg\" alt=\"\u3060\u3053\" class=\"wp-image-89778\"\/><\/figure><\/div>\n\n\n<div style=\"height:14px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u4e00\u90e8\u306e\u7814\u7a76\u3067\u306f\u3001NMLFS\u3068\u7b4b\u75be\u60a3\uff08\u30df\u30aa\u30d1\u30c1\u30fc\uff09\u3068\u306e\u95a2\u9023\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7b4b\u7dca\u5f35\u4f4e\u4e0b\u3084\u95a2\u7bc0\u62d8\u7e2e\u3001\u6ed1\u3089\u304b\u3067\u5f15\u304d\u7de0\u307e\u3063\u305f\u76ae\u819a\u306a\u3069\u306e\u75c7\u72b6\u304c\u3001\u80ce\u5150\u671f\u306b\u767a\u75c7\u3057\u305f\u30df\u30aa\u30d1\u30c1\u30fc\u3068\u95a2\u4fc2\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u3057\u304b\u3057\u3001\u73fe\u6642\u70b9\u3067\u306f\u30df\u30aa\u30d1\u30c1\u30fc\u304cNMLFS\u306e\u78ba\u7acb\u3055\u308c\u305f\u7279\u5fb4\u3068\u306f\u898b\u306a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002NMLFS\u306f\u975e\u5e38\u306b\u7a00\u306a\u75be\u60a3\u3067\u3042\u308b\u305f\u3081\u3001\u3053\u308c\u307e\u3067\u8a8d\u8b58\u3055\u308c\u3066\u3044\u306a\u304b\u3063\u305f\u75c7\u72b6\u3084\u7279\u5fb4\u304c\u3055\u3089\u306a\u308b\u7814\u7a76\u306b\u3088\u3063\u3066\u660e\u3089\u304b\u306b\u306a\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002\u96fb\u6c17\u7b4b\u8089\u56f3\uff08EMG\uff09\u306a\u3069\u306e\u5305\u62ec\u7684\u306a\u8a55\u4fa1\u3092\u901a\u3058\u3066\u3001\u3053\u308c\u3089\u306e\u95a2\u9023\u6027\u3092\u89e3\u660e\u3059\u308b\u3053\u3068\u304c\u6c42\u3081\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>NMLFS\u306f\u6975\u3081\u3066\u7a00\u306a\u75be\u60a3\u3067\u30012024\u5e74\u6642\u70b9\u3067\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u75c7\u4f8b\u6570\u306f\u308f\u305a\u304b26\u4f8b\u3067\u3059\u3002\u305d\u306e\u3046\u3061\u3001\u5178\u578b\u7684\u306a\u9854\u8c8c\u3092\u6301\u3064\u60a3\u8005\u306f\u534a\u6570\u4ee5\u4e0b\u3067\u3059\u3002\u3053\u306e\u3053\u3068\u306f\u3001NMLFS\u304c\u975e\u5e38\u306b\u591a\u69d8\u306a\u75c7\u72b6\u3092\u6301\u3064\u75be\u60a3\u3067\u3042\u308a\u3001\u3059\u3079\u3066\u306e\u60a3\u8005\u306b\u5178\u578b\u7684\u306a\u7279\u5fb4\u304c\u73fe\u308c\u308b\u308f\u3051\u3067\u306f\u306a\u3044\u3053\u3068\u3092\u793a\u3057\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u7279\u306b\u975e\u5178\u578b\u7684\u306a\u75c7\u4f8b\u3084\u9854\u8c8c\u306e\u7279\u5fb4\u304c\u9855\u8457\u3067\u306a\u3044\u60a3\u8005\u306b\u304a\u3044\u3066\u306f\u3001\u8a3a\u65ad\u304c\u96e3\u3057\u3044\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>NMLFS\u306f\u305d\u306e\u7a00\u5c11\u6027\u3068\u75c7\u72b6\u306e\u591a\u69d8\u6027\u304b\u3089\u3001\u8a3a\u65ad\u3068\u7ba1\u7406\u306b\u306f\u5c02\u9580\u7684\u306a\u30a2\u30d7\u30ed\u30fc\u30c1\u304c\u5fc5\u8981\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0%E3%81%A8%E8%A8%BA%E6%96%AD%E3%81%AE%E6%96%B9%E6%B3%95\"><\/span>\u75c5\u56e0\u3068\u8a3a\u65ad\u306e\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u75c7\u5019\u7fa4\uff08NMLFS\uff09\u306e\u539f\u56e0\u306f\u3001\u30d2\u30c8\u7b2c8\u67d3\u8272\u4f53\u9577\u8155\uff088q\uff09\u306e\u7279\u5b9a\u9818\u57df\u2014\u5177\u4f53\u7684\u306b\u306f8q21.3\u304b\u30898q22.1\u306b\u304b\u3051\u3066\u2014\u306b\u751f\u3058\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\uff08microdeletion\uff09\u306b\u8d77\u56e0\u3059\u308b\u3053\u3068\u304c\u3001\u8907\u6570\u306e\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u7814\u7a76\u306b\u3088\u308a\u660e\u3089\u304b\u3068\u306a\u3063\u3066\u3044\u308b\u3002\u3053\u306e\u6b20\u5931\u306b\u3088\u308a\u3001\u5f53\u8a72\u9818\u57df\u306b\u5b58\u5728\u3059\u308b\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u4e00\u62ec\u3057\u3066\u5931\u308f\u308c\u3001\u7279\u6709\u306e\u982d\u84cb\u9854\u9762\u5f62\u614b\u7570\u5e38\u3084\u767a\u9054\u969c\u5bb3\u3001\u305d\u306e\u4ed6\u306e\u5148\u5929\u6027\u7570\u5e38\u304c\u8a98\u767a\u3055\u308c\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<div style=\"height:23px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"517\" height=\"500\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/chr8.png\" alt=\"chr8\" class=\"wp-image-89704\"\/><\/figure><\/div>\n\n\n<div style=\"height:15px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E7%95%B0%E5%B8%B8%E3%81%AE%E7%AF%84%E5%9B%B2%E3%81%A8%E3%82%AF%E3%83%AA%E3%83%86%E3%82%A3%E3%82%AB%E3%83%AB%E3%83%AA%E3%83%BC%E3%82%B8%E3%83%A7%E3%83%B3\"><\/span>\u67d3\u8272\u4f53\u7570\u5e38\u306e\u7bc4\u56f2\u3068\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5831\u544a\u3055\u308c\u3066\u3044\u308b\u6b20\u5931\u306e\u30b5\u30a4\u30ba\u306b\u306f\u3070\u3089\u3064\u304d\u304c\u3042\u308a\u3001\u6700\u5c0f\u3067\u7d041.6\u30e1\u30ac\u30d9\u30fc\u30b9\uff08Mb\uff09\u304b\u3089\u6700\u5927\u30678.9 Mb\u7a0b\u5ea6\u307e\u3067\u5b58\u5728\u3059\u308b\u3002\u3053\u308c\u3089\u306e\u6b20\u5931\u306e\u5171\u901a\u9818\u57df\u3092\u6bd4\u8f03\u691c\u8a0e\u3059\u308b\u3053\u3068\u3067\u3001NMLFS\u306e\u767a\u73fe\u306b\u672c\u8cea\u7684\u306b\u95a2\u4e0e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u308b\u30af\u30ea\u30c6\u30a3\u30ab\u30eb\u30ea\u30fc\u30b8\u30e7\u30f3\uff08critical region\uff09\u304c\u6d6e\u304b\u3073\u4e0a\u304c\u3063\u3066\u304a\u308a\u3001\u305d\u306e\u7bc4\u56f2\u306f\u304a\u304a\u3088\u305d93.5 Mb\u301c96.3 Mb\uff08GRCh37\/hg19\u53c2\u7167\uff09\u3068\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9818\u57df\u5185\u306b\u306f\u3001TMEM67, CCNE2, GDF6, ESRP1, RAD54B\u306a\u3069\u3001\u80da\u767a\u751f\u3084\u7d44\u7e54\u5206\u5316\u306b\u95a2\u4e0e\u3059\u308b\u3068\u3055\u308c\u308b\u91cd\u8981\u306a\u907a\u4f1d\u5b50\u304c\u542b\u307e\u308c\u3066\u304a\u308a\u3001\u305d\u308c\u305e\u308c\u306e\u5358\u72ec\u307e\u305f\u306f\u76f8\u4e92\u4f5c\u7528\u304cNMLFS\u306e\u75c7\u5019\u7fa4\u767a\u73fe\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3002\u3057\u304b\u3057\u3001\u3053\u308c\u3089\u306e\u907a\u4f1d\u5b50\u306e\u6a5f\u80fd\u55aa\u5931\u304c\u5358\u72ec\u3067NMLFS\u3092\u5f15\u304d\u8d77\u3053\u3059\u3068\u3044\u3046\u76f4\u63a5\u7684\u8a3c\u62e0\u306f\u672a\u3060\u4e0d\u5341\u5206\u3067\u3042\u308a\u3001\u73fe\u5728\u3082\u6d3b\u767a\u306a\u691c\u8a3c\u304c\u7d9a\u3051\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%BD%A2%E5%BC%8F%E3%81%A8%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E8%83%8C%E6%99%AF\"><\/span>\u907a\u4f1d\u5f62\u5f0f\u3068\u907a\u4f1d\u5b66\u7684\u80cc\u666f<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u308c\u307e\u3067\u306b\u5831\u544a\u3055\u308c\u305f\u78ba\u5b9a\u4f8b\u306e\u591a\u304f\u3067\u306f\u3001\u6b20\u5931\u306fde novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09\u3068\u3057\u3066\u767a\u751f\u3057\u3066\u304a\u308a\u3001\u89aa\u304b\u3089\u306e\u907a\u4f1d\uff08\u5782\u76f4\u4f1d\u64ad\uff09\u304c\u78ba\u8a8d\u3055\u308c\u305f\u4f8b\u306f\u3054\u304f\u5c11\u6570\u3067\u3042\u308b\u3002\u305f\u3060\u3057\u3001\u6bcd\u5b50\u30da\u30a2\u3084\u6bcd\u5b50\u5144\u5f1f\u30da\u30a2\u306b\u304a\u3044\u3066\u6b20\u5931\u304c\u907a\u4f1d\u3057\u305f\u4f8b\u304c\u5b58\u5728\u3059\u308b\u3053\u3068\u304b\u3089\u3001NMLFS\u306f\u5e38\u67d3\u8272\u4f53\u512a\u6027\u907a\u4f1d\u306e\u5f62\u5f0f\u3092\u3068\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u4e0d\u5b8c\u5168\u9855\u73fe\uff08incomplete penetrance\uff09\u304a\u3088\u3073\u53ef\u5909\u8868\u73fe\u6027\uff08variable expressivity\uff09\u304c\u95a2\u4e0e\u3057\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<p>\u3055\u3089\u306b\u3001NMLFS\u306e\u767a\u75c7\u306b\u306f\u3001\u5358\u4e00\u306e\u907a\u4f1d\u5b50\u6b20\u5931\u306e\u307f\u306a\u3089\u305a\u3001\u4fee\u98fe\u907a\u4f1d\u5b50\uff08modifier genes\uff09\u3001\u9060\u4f4d\u5ea7\u4f4d\u306e\u5909\u7570\uff08second-site variants\uff09\u3001\u3042\u308b\u3044\u306f\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u8981\u56e0\uff08\u4f8b\uff1a\u30af\u30ed\u30de\u30c1\u30f3\u69cb\u9020\u5909\u5316\u3084\u8ee2\u5199\u8abf\u7bc0\u7570\u5e38\uff09\u304c\u8907\u5408\u7684\u306b\u95a2\u4e0e\u3057\u3066\u3044\u308b\u53ef\u80fd\u6027\u304c\u6307\u6458\u3055\u308c\u3066\u304a\u308a\u3001\u300c\u6b20\u5931\u3060\u3051\u3067\u306f\u4e0d\u5341\u5206\uff08deletion is necessary but not sufficient\uff09\u300d\u3068\u3044\u3046\u7acb\u5834\u304c\u73fe\u5728\u306e\u4e3b\u6d41\u3068\u306a\u3063\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A8%BA%E6%96%AD%E6%B3%95%E3%81%A8%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E6%9F%BB%E6%8A%80%E8%A1%93\"><\/span>\u8a3a\u65ad\u6cd5\u3068\u907a\u4f1d\u5b50\u691c\u67fb\u6280\u8853<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>NMLFS\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u67d3\u8272\u4f53\u69cb\u9020\u7570\u5e38\u306e\u9ad8\u89e3\u50cf\u5ea6\u691c\u51fa\u304c\u53ef\u80fd\u306a\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\u304c\u4e0d\u53ef\u6b20\u3067\u3042\u308b\u3002\u3053\u308c\u307e\u3067\u306b\u7528\u3044\u3089\u308c\u3066\u304d\u305f\u4e3b\u306a\u8a3a\u65ad\u624b\u6cd5\u306b\u306f\u4ee5\u4e0b\u304c\u3042\u308b\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6bd4\u8f03\u30b2\u30ce\u30e0\u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff08array-CGH\uff09<br>\u3000\u2192 <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u306e\u6709\u7121\u3068\u305d\u306e\u7bc4\u56f2\u3092\u7db2\u7f85\u7684\u306b\u691c\u51fa\u53ef\u80fd\u3002<br><\/li>\n\n\n\n<li>\u86cd\u5149 in situ \u30cf\u30a4\u30d6\u30ea\u30c0\u30a4\u30bc\u30fc\u30b7\u30e7\u30f3\uff08FISH\uff09<br>\u3000\u2192 \u7279\u5b9a\u9818\u57df\u306e\u6b20\u5931\u3092\u9ad8\u7cbe\u5ea6\u3067\u5c40\u5728\u5316\u3057\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/mosaicism\/\">\u30e2\u30b6\u30a4\u30af<\/a>\u4f8b\u306e\u691c\u51fa\u3082\u88dc\u52a9\u3059\u308b\u3002<br><\/li>\n\n\n\n<li>\u67d3\u8272\u4f53<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/amniocentesis-microarray\/\">\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4<\/a>\uff08CMA\uff09<br>\u3000\u2192 array-CGH\u3068\u985e\u4f3c\u3057\u305f\u691c\u51fa\u80fd\u529b\u3092\u6301\u3061\u3001\u8a3a\u7642\u73fe\u5834\u3067\u5e83\u304f\u7528\u3044\u3089\u308c\u3066\u3044\u308b\u3002<br><\/li>\n\n\n\n<li>\u5168\u30a8\u30af\u30bd\u30fc\u30e0\u30b7\u30fc\u30b1\u30f3\u30b7\u30f3\u30b0\uff08WES\uff09<br>\u3000\u2192 \u914d\u5217\u5909\u7570\u306b\u52a0\u3048\u3001\u30b3\u30d4\u30fc\u6570\u5909\u7570\uff08CNV\uff09\u3082\u691c\u51fa\u53ef\u80fd\u3067\u3001NMLFS\u306e\u3088\u3046\u306b\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027\u304c\u7591\u308f\u308c\u308b\u75be\u60a3\u7fa4\u306b\u304a\u3044\u3066\u306f\u975e\u5e38\u306b\u6709\u7528\u3067\u3042\u308b\u3002<br><\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u691c\u67fb\u306b\u3088\u308a\u30018q21.3\u301c8q22.1\u9818\u57df\u306b\u304a\u3051\u308b\u30d8\u30c6\u30ed\u63a5\u5408\u6027\u306e\u6b20\u5931\uff08heterozygous deletion\uff09\u304c\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u3067\u3001\u8a3a\u65ad\u304c\u6210\u7acb\u3059\u308b\u3002\u8fd1\u5e74\u3067\u306f\u3001\u975e\u4fb5\u8972\u7684<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">NIPT<\/a>\uff09\u3082\u3001NMLFS\u306b\u4ee3\u8868\u3055\u308c\u308b<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/lp-143\/\">\u5fae\u5c0f\u6b20\u5931<\/a>\u75c7\u5019\u7fa4\u306e\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u624b\u6bb5\u3068\u3057\u3066\u6ce8\u76ee\u3092\u96c6\u3081\u3066\u304a\u308a\u3001\u6bcd\u4f53\u8840\u4e2d\u306e\u80ce\u5150\u7531\u6765\u7d30\u80de\u3092\u5206\u6790\u3059\u308b\u3053\u3068\u3067\u3001\u9ad8\u3044\u7cbe\u5ea6\u304b\u3064\u5b89\u5168\u6027\u3092\u3082\u3063\u3066<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosomal-abnormality\/\">\u67d3\u8272\u4f53\u7570\u5e38<\/a>\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u53ef\u80fd\u3068\u306a\u3063\u3066\u3044\u308b\u3002NIPT\u306f\u3001\u4fb5\u8972\u7684\u306a<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chorionic-villus-test\/\">\u7d68\u6bdb\u691c\u67fb<\/a>\u3068\u6bd4\u8f03\u3057\u3066\u30ea\u30b9\u30af\u304c\u4f4e\u3044\u305f\u3081\u3001\u598a\u5a66\u306b\u3068\u3063\u3066\u671b\u307e\u3057\u3044\u9078\u629e\u80a2\u306e\u4e00\u3064\u3068\u3055\u308c\u3066\u3044\u308b\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BB%8A%E5%BE%8C%E3%81%AE%E7%97%85%E5%9B%A0%E8%A7%A3%E6%98%8E%E3%81%AB%E5%90%91%E3%81%91%E3%81%A6\"><\/span>\u4eca\u5f8c\u306e\u75c5\u56e0\u89e3\u660e\u306b\u5411\u3051\u3066<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>NMLFS\u306f\u5831\u544a\u4f8b\u304c\u975e\u5e38\u306b\u9650\u3089\u308c\u3066\u3044\u308b\u305f\u3081\u3001\u75c5\u56e0\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\u3084\u767a\u75c7\u6a5f\u5e8f\u306e\u89e3\u660e\u306b\u306f\u8ffd\u52a0\u75c7\u4f8b\u306e\u84c4\u7a4d\u304c\u4e0d\u53ef\u6b20\u3067\u3042\u308b\u3002\u3068\u304f\u306b\u3001\u5c0f\u898f\u6a21\u306a\u6b20\u5931\uff081\u301c2 Mb\u672a\u6e80\uff09\u3084<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/chromosome-partial-duplication-support\/\">\u90e8\u5206\u91cd\u8907<\/a>\u3001\u70b9\u5909\u7570\u3092\u6709\u3059\u308b\u75c7\u4f8b\u306e\u8a73\u7d30\u306a\u8868\u73fe\u578b\u89e3\u6790\u304a\u3088\u3073\u30b2\u30ce\u30e0\u89e3\u6790\u304c\u3001\u65b0\u305f\u306a\u75c5\u56e0\u4eee\u8aac\u306e\u691c\u8a3c\u306b\u8ca2\u732e\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u308b\u3002\u307e\u305f\u3001\u9577\u671f\u7684\u8ffd\u8de1\u8abf\u67fb\u3084\u3001\u89aa\u5b50\u30fb\u5144\u5f1f\u59c9\u59b9\u4f8b\u306b\u304a\u3051\u308b\u5bb6\u7cfb\u89e3\u6790\u3082\u3001\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027\u3084\u907a\u4f1d\u7684\u4fee\u98fe\u56e0\u5b50\u306e\u89e3\u660e\u306b\u5411\u3051\u305f\u91cd\u8981\u306a\u9375\u3068\u306a\u308b\u3060\u308d\u3046\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n    <a href=\"\/nipt\/8p23-1-deletion-syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">8p23.1\u6b20\u5931\u75c7\u5019\u7fa4 <\/div>\n          <div class=\"blog-card-excerpt\">8p23.1\u9818\u57df\u306b\u4f4d\u7f6e\u3059\u308bBLK\u3001GATA4\u3001FDFT1\u907a\u4f1d\u5b50\u304c\u5f15\u304d\u8d77\u3053\u3059\u7a00\u5c11\u75be\u60a3\u3067\u3042\u308bMODY\uff08\u5bb6\u65cf\u6027\u82e5\u5e74\u7cd6\u5c3f\u75c5\uff09\u3001CDH\uff08\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E3%81%AE%E7%97%87%E7%8A%B6%E3%81%A8%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\"><\/span>\u75be\u60a3\u306e\u75c7\u72b6\u3068\u7ba1\u7406\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%B8%BB%E8%A6%81%E3%81%AA%E7%97%87%E7%8A%B6%EF%BC%88%E9%A1%94%E8%B2%8C%EF%BC%89\"><\/span>\u4e3b\u8981\u306a\u75c7\u72b6\uff08\u9854\u8c8c\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u72ed\u3044\u773c\u88c2\uff08blepharophimosis\uff09<\/li>\n\n\n\n<li>\u76ae\u819a\u304c\u7dca\u5f35\u3057\u3001\u3064\u3084\u306e\u3042\u308b\u8868\u60c5\u306e\u4e4f\u3057\u3044\u9854<\/li>\n\n\n\n<li>\u7709\u6bdb\u306e\u307e\u3070\u3089\u3055\u3068\u5f27\u72b6\u5f62\u614b<\/li>\n\n\n\n<li>\u9f3b\u6881\u304c\u5e83\u304f\u3001\u5148\u7aef\u304c\u4e38\u3044<\/li>\n\n\n\n<li>\u5c0f\u3055\u3044\u984e\uff08\u4e0b\u984e\u4f4e\u5f62\u6210\uff09\u3068\u4e0a\u984e\u4f4e\u5f62\u6210<\/li>\n\n\n\n<li>\u982c\u306b\u304f\u307c\u307f\uff08\u4e21\u5074\uff09<\/li>\n\n\n\n<li>\u8033\u4ecb\u7570\u5e38\uff08\u5c55\u958b\u4e0d\u5168\u3001\u5947\u5f62\uff09<\/li>\n\n\n\n<li>\u524d\u982d\u90e8\u306e\u6bdb\u9aea\u7570\u5e38\uff08\u9006\u7acb\u3061\uff09<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E8%BA%AB%E4%BD%93%E7%9A%84%E3%83%BB%E7%A5%9E%E7%B5%8C%E7%99%BA%E9%81%94%E7%9A%84%E7%89%B9%E5%BE%B4\"><\/span>\u305d\u306e\u4ed6\u306e\u8eab\u4f53\u7684\u30fb\u795e\u7d4c\u767a\u9054\u7684\u7279\u5fb4<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u767a\u9054\u9045\u6ede\uff08\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\uff09<\/li>\n\n\n\n<li>\u7b4b\u7dca\u5f35\u4f4e\u4e0b\uff08\u4f4e\u7dca\u5f35\uff09\u3001\u95a2\u7bc0\u62d8\u7e2e\u3001\u5c48\u6307\u75c7\uff08camptodactyly\uff09<\/li>\n\n\n\n<li>\u505c\u7559\u7cbe\u5de3\uff08cryptorchidism\uff09\u3001\u9670\u830e\u80a5\u5927\u306a\u3069\u306e\u6027\u5668\u7570\u5e38<\/li>\n\n\n\n<li>\u53e3\u84cb\u88c2\u3001\u6b6f\u306e\u7570\u5e38\uff08\u7570\u5e38\u54ac\u5408\u3001\u5148\u5929\u6027\u6b20\u5982\u6b6f\u3001\u30a8\u30ca\u30e1\u30eb\u8cea\u4f4e\u5f62\u6210\uff09<\/li>\n\n\n\n<li>\u611f\u899a\u5668\u7570\u5e38\uff08\u5c0f\u982d\u75c7\u3001\u8fd1\u8996\u3001\u30b1\u30e9\u30c8\u30b3\u30ca\u30b9\u3001\u96e3\u8074\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u8133\u6ce2\u30fb\u753b\u50cf\u3067\u306f\u7570\u5e38\u3092\u793a\u3055\u306a\u3044\u5834\u5408\u304c\u591a\u3044<\/li>\n\n\n\n<li>\u884c\u52d5\u4e0a\u306e\u7279\u5fb4\uff1a\u967d\u6c17\u3067\u793e\u4ea4\u7684\u3001\u307e\u305f\u306fADHD\u3001\u653b\u6483\u6027\u3001ASD\u50be\u5411\uff08\u500b\u4f53\u5dee\u3042\u308a\uff09<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%AE%A1%E7%90%86%E6%96%B9%E6%B3%95\"><\/span>\u7ba1\u7406\u65b9\u6cd5<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5c0f\u5150\u795e\u7d4c\u79d1\u30fb\u907a\u4f1d\u5c02\u9580\u533b\u306e\u7ba1\u7406<\/li>\n\n\n\n<li>\u767a\u9054\u652f\u63f4\u3001\u7406\u5b66\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u3001\u884c\u52d5\u7642\u6cd5<\/li>\n\n\n\n<li>\u5916\u79d1\u7684\u4ecb\u5165\uff08\u505c\u7559\u7cbe\u5de3\u3001\u95a2\u7bc0\u62d8\u7e2e\u3001\u53e3\u84cb\u88c2\u306a\u3069\uff09<\/li>\n\n\n\n<li>\u6b6f\u79d1\u7684\u5bfe\u5fdc\uff08\u9ebb\u9154\u4e0b\u6cbb\u7642\u3092\u542b\u3080\uff09<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306a\u5fc3\u30a8\u30b3\u30fc\u3001\u7b4b\u96fb\u56f3\uff08EMG\uff09\u3001\u6210\u9577\u8a55\u4fa1<\/li>\n\n\n\n<li>\u5fc3\u7406\u793e\u4f1a\u7684\u30b5\u30dd\u30fc\u30c8\uff08\u5bb9\u8c8c\u306b\u5bfe\u3059\u308b\u60c5\u7dd2\u30b1\u30a2\u542b\u3080\uff09<\/li>\n<\/ul>\n\n\n\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97\"><\/span>\u5c06\u6765\u306e\u898b\u901a\u3057<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%B0%86%E6%9D%A5%E3%81%AE%E8%A6%8B%E9%80%9A%E3%81%97-2\"><\/span>\u5c06\u6765\u306e\u898b\u901a\u3057<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>NMLFS\u306f\u7a00\u5c11\u75be\u60a3\u3067\u3042\u308a\u3001\u81e8\u5e8a\u50cf\u30fb\u4e88\u5f8c\u306b\u5927\u304d\u306a\u3070\u3089\u3064\u304d\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BA%88%E5%BE%8C%E3%81%AB%E9%96%A2%E3%81%99%E3%82%8B%E7%9F%A5%E8%A6%8B\"><\/span>\u4e88\u5f8c\u306b\u95a2\u3059\u308b\u77e5\u898b<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5178\u578b\u7684\u9854\u8c8c\u3092\u6301\u305f\u306a\u3044\u30b1\u30fc\u30b9\u306e\u5831\u544a\u304c\u5897\u3048\u3066\u304a\u308a\u3001\u8a3a\u65ad\u57fa\u6e96\u306e\u67d4\u8edf\u6027\u3068\u8868\u73fe\u578b\u306e\u5e83\u304c\u308a\u304c\u4eca\u5f8c\u306e\u8ab2\u984c\u3067\u3059\u3002<br><\/li>\n\n\n\n<li>\u78ba\u5b9f\u306a\u30d5\u30a7\u30ce\u30bf\u30a4\u30d7\u767a\u73fe\u306b\u306f\u30018q22.1\u306e\u6b20\u5931\u306b\u52a0\u3048\u3066\u7b2c\u4e8c\u306e\u56e0\u5b50\uff08\u4e8c\u5ea7\u30e2\u30c7\u30eb\uff09\u304c\u5fc5\u8981\u3068\u3055\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<br><\/li>\n\n\n\n<li>\u6210\u4eba\u75c7\u4f8b\u3067\u306f\u7b4b\u75c7\uff08\u30df\u30aa\u30d1\u30c1\u30fc\uff09\u306e\u5408\u4f75\u304c\u5831\u544a\u3055\u308c\u3066\u304a\u308a\u3001\u5e74\u9f62\u4f9d\u5b58\u7684\u306a\u767a\u73fe\u3084\u672a\u8a8d\u8b58\u306e\u7b4b\u75c7\u72b6\u306e\u5b58\u5728\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002<br><\/li>\n<\/ul>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E4%BB%8A%E5%BE%8C%E3%81%AE%E7%A0%94%E7%A9%B6%E8%AA%B2%E9%A1%8C\"><\/span>\u4eca\u5f8c\u306e\u7814\u7a76\u8ab2\u984c<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6a5f\u80fd\u7684\u5019\u88dc\u907a\u4f1d\u5b50\u306e\u7279\u5b9a\uff08\u4f8b\uff1aTMEM67, CCNE2, GDF6\uff09<\/li>\n\n\n\n<li>\u30a8\u30d4\u30b8\u30a7\u30cd\u30c6\u30a3\u30c3\u30af\u5236\u5fa1\u30fb\u30af\u30ed\u30de\u30c1\u30f3\u69cb\u9020\u306e\u89e3\u6790<\/li>\n\n\n\n<li>\u8efd\u75c7\u4f8b\u30fb\u975e\u5178\u578b\u4f8b\u3092\u542b\u3080\u60a3\u8005\u30b3\u30db\u30fc\u30c8\u306e\u62e1\u5145<\/li>\n\n\n\n<li><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u30fb\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306e\u5411\u4e0a<\/li>\n\n\n\n<li>\u53e3\u8154\u3001\u7b4b\u8089\u3001\u884c\u52d5\u306b\u95a2\u3059\u308b\u6a2a\u65ad\u7684\u306a\u81ea\u7136\u6b74\u7814\u7a76<\/li>\n<\/ul>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001\u81e8\u5e8a\u533b\u30fb\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u30fb\u5c0f\u5150\u79d1\u30fb\u6b6f\u79d1\u30fb\u5fc3\u7406\u58eb\u306a\u3069\u3001\u591a\u8077\u7a2e\u9023\u643a\u3092\u5fc5\u8981\u3068\u3059\u308b\u5305\u62ec\u7684\u533b\u7642\u306e\u30e2\u30c7\u30eb\u30b1\u30fc\u30b9\u3068\u3082\u8a00\u3048\u307e\u3059\u3002\u6975\u3081\u3066\u7a00\u3067\u3042\u308a\u306a\u304c\u3089\u3001\u8868\u73fe\u578b\u306e\u591a\u69d8\u6027\u3068\u65b0\u898f\u75c7\u72b6\u306e\u767a\u898b\u304c\u7d9a\u3044\u3066\u3044\u308b\u305f\u3081\u3001\u4e00\u4eba\u3072\u3068\u308a\u306e\u75c7\u4f8b\u304c\u79d1\u5b66\u7684\u9032\u5c55\u306b\u8ca2\u732e\u3059\u308b\u91cd\u8981\u306a\u75be\u60a3\u3067\u3059\u3002<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-full\"><img decoding=\"async\" width=\"640\" height=\"427\" src=\"\/nipt\/wp-content\/uploads\/2024\/11\/24156031_s.jpg\" alt=\"\u5b50\u3069\u3082\u3092\u611b\u3055\u306a\u3044\u3068\" class=\"wp-image-87708\"\/><\/figure><\/div>\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A3%9C%E8%B6%B3\"><\/span>\u88dc\u8db3<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A3%9C%E8%B6%B3%E4%BA%8B%E9%A0%85%E3%81%A8%E8%A8%98%E8%BC%89%E5%86%85%E5%AE%B9%E3%81%AE%E6%98%8E%E7%A2%BA%E5%8C%96\"><\/span>\u88dc\u8db3\u4e8b\u9805\u3068\u8a18\u8f09\u5185\u5bb9\u306e\u660e\u78ba\u5316<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u672c\u8a18\u4e8b\u306e\u8a18\u8f09\u5185\u5bb9\u306e\u6b63\u78ba\u6027\u3068\u81e8\u5e8a\u7684\u6709\u7528\u6027\u3092\u9ad8\u3081\u308b\u305f\u3081\u3001\u4ee5\u4e0b\u306b\u3044\u304f\u3064\u304b\u306e\u88dc\u8db3\u60c5\u5831\u304a\u3088\u3073\u7559\u610f\u70b9\u3092\u793a\u3057\u307e\u3059\uff1a<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%96%A0_%E4%B8%96%E7%95%8C%E3%81%AB%E3%81%8A%E3%81%91%E3%82%8B%E5%A0%B1%E5%91%8A%E4%BE%8B%E6%95%B0%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span>\u25a0 \u4e16\u754c\u306b\u304a\u3051\u308b\u5831\u544a\u4f8b\u6570\u306b\u3064\u3044\u3066<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>2024\u5e74\u6642\u70b9\u3067\u3001\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u75c7\u5019\u7fa4\uff08NMLFS\uff09\u306e\u5831\u544a\u4f8b\u6570\u306f\u7d0426\u4f8b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u3053\u306e\u6570\u5024\u306f\u3042\u304f\u307e\u3067\u6587\u732e\u306b\u6b63\u5f0f\u306b\u5831\u544a\u3055\u308c\u305f\u75c7\u4f8b\u6570\u306b\u57fa\u3065\u304f\u6700\u5c0f\u63a8\u5b9a\u5024\u3067\u3059\u3002\u672a\u8a3a\u65ad\u4f8b\u3001\u4ed6\u306e\u75c7\u5019\u7fa4\u306b\u8aa4\u5206\u985e\u3055\u308c\u305f\u4f8b\u3001\u3042\u308b\u3044\u306f\u672a\u5831\u544a\u306e\u8efd\u75c7\u4f8b\u304c\u5b58\u5728\u3059\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u304f\u3001\u5b9f\u969b\u306e\u6709\u75c5\u6570\u306f\u3053\u308c\u3088\u308a\u591a\u3044\u53ef\u80fd\u6027\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%96%A0_%E7%9C%BC%E7%9E%BC%E9%BC%BB%E9%A1%94%E9%9D%A2%E7%97%87%E5%80%99%E7%BE%A4%E3%81%A8%E3%81%AE%E9%96%A2%E9%80%A3%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span>\u25a0 \u773c\u77bc\u9f3b\u9854\u9762\u75c7\u5019\u7fa4\u3068\u306e\u95a2\u9023\u306b\u3064\u3044\u3066<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u672c\u8a18\u4e8b\u3067\u306f\u3001\u773c\u77bc\u9f3b\u9854\u9762\u75c7\u5019\u7fa4\uff08Blepharo-Naso-Facial Syndrome; BNFS\uff09\u3068\u306e\u91cd\u8907\u53ef\u80fd\u6027\u306b\u3064\u3044\u3066\u8a00\u53ca\u3057\u3066\u3044\u307e\u3059\u304c\u3001\u4e21\u75be\u60a3\u306e\u9593\u306b\u907a\u4f1d\u5b66\u7684\u307e\u305f\u306f\u660e\u78ba\u306a\u75c5\u56e0\u7684\u95a2\u9023\u304c\u3042\u308b\u3068\u3044\u3046\u5341\u5206\u306a\u8a3c\u62e0\u306f\u73fe\u6642\u70b9\u3067\u306f\u5b58\u5728\u3057\u3066\u3044\u307e\u305b\u3093\u3002\u3042\u304f\u307e\u3067\u9451\u5225\u8a3a\u65ad\u4e0a\u306e\u4e00\u8003\u616e\u4e8b\u9805\u3068\u3057\u3066\u306e\u8a18\u8f09\u3067\u3042\u308a\u3001\u81e8\u5e8a\u7684\u306a\u540c\u4e00\u8996\u3092\u610f\u56f3\u3059\u308b\u3082\u306e\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%96%A0_%E8%A1%8C%E5%8B%95%E7%9A%84%E7%89%B9%E5%BE%B4%E3%81%AE%E8%A8%98%E8%BC%89%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span>\u25a0 \u884c\u52d5\u7684\u7279\u5fb4\u306e\u8a18\u8f09\u306b\u3064\u3044\u3066<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u300c\u967d\u6c17\u3067\u5e78\u305b\u305d\u3046\u306a\u8868\u60c5\uff08cheerful demeanor\uff09\u300d\u3068\u3044\u3046\u8a18\u8ff0\u306f\u3001\u4e00\u90e8\u306e\u75c7\u4f8b\u5831\u544a\u306b\u57fa\u3065\u3044\u305f\u89b3\u5bdf\u3067\u3042\u308a\u3001\u3059\u3079\u3066\u306e\u60a3\u8005\u306b\u5171\u901a\u3059\u308b\u884c\u52d5\u7684\u7279\u5fb4\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3053\u306e\u3088\u3046\u306a\u60c5\u52d5\u7684\u50be\u5411\u306f\u4e3b\u89b3\u7684\u306a\u8a55\u4fa1\u306b\u4f9d\u5b58\u3057\u3084\u3059\u304f\u3001\u4eee\u9762\u69d8\u9854\u8c8c\u306e\u8996\u899a\u7684\u5370\u8c61\u3068\u6df7\u540c\u3055\u308c\u308b\u304a\u305d\u308c\u3082\u3042\u308b\u305f\u3081\u3001\u8a3a\u65ad\u7684\u7279\u5fb4\u3068\u306f\u660e\u78ba\u306b\u533a\u5225\u3057\u3066\u89e3\u91c8\u3059\u308b\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%96%A0_%E7%94%9F%E6%AE%96%E5%99%A8%E7%95%B0%E5%B8%B8%E3%81%AE%E8%A8%98%E8%BC%89%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span>\u25a0 \u751f\u6b96\u5668\u7570\u5e38\u306e\u8a18\u8f09\u306b\u3064\u3044\u3066<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u672c\u8a18\u4e8b\u3067\u306f\u3001\u505c\u7559\u7cbe\u5de3\u306e\u307b\u304b\u306b\u300c\u9670\u830e\u80a5\u5927\u300d\u304c\u8a18\u8f09\u3055\u308c\u3066\u3044\u307e\u3059\u304c\u3001\u9670\u830e\u80a5\u5927\u306f\u3054\u304f\u9650\u3089\u308c\u305f\u5831\u544a\u306b\u57fa\u3065\u304f\u3082\u306e\u3067\u3042\u308a\u3001\u73fe\u6642\u70b9\u3067\u306f\u672c\u75c7\u5019\u7fa4\u306e\u4ee3\u8868\u7684\u7279\u5fb4\u3068\u306f\u898b\u306a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u4eca\u5f8c\u306e\u8ffd\u52a0\u75c7\u4f8b\u5831\u544a\u3092\u5f85\u3063\u3066\u8a55\u4fa1\u3092\u884c\u3046\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E2%96%A0_%E4%BB%98%E9%9A%8F%E7%9A%84%E3%81%AA%E7%97%87%E7%8A%B6%E3%81%AE%E6%89%B1%E3%81%84%E3%81%AB%E3%81%A4%E3%81%84%E3%81%A6\"><\/span>\u25a0 \u4ed8\u968f\u7684\u306a\u75c7\u72b6\u306e\u6271\u3044\u306b\u3064\u3044\u3066<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>Spigelian\u30d8\u30eb\u30cb\u30a2\u3001\u820c\u80a5\u5927\u3001\u30a8\u30ca\u30e1\u30eb\u8cea\u4f4e\u5f62\u6210\u306a\u3069\u3001\u672c\u8a18\u4e8b\u306b\u8a18\u8f09\u3055\u308c\u305f\u4e00\u90e8\u306e\u6240\u898b\u306f\u3001\u5358\u767a\u7684\u307e\u305f\u306f\u7a00\u306a\u75c7\u4f8b\u3067\u5831\u544a\u3055\u308c\u305f\u3082\u306e\u3067\u3042\u308a\u3001\u672c\u75c7\u5019\u7fa4\u306e\u30b3\u30a2\u75c7\u72b6\u3068\u306f\u8a00\u3044\u96e3\u3044\u70b9\u306b\u7559\u610f\u304c\u5fc5\u8981\u3067\u3059\u3002\u4eca\u5f8c\u306e\u6539\u8a02\u3067\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306b\u5206\u985e\u3092\u5206\u3051\u3066\u8a18\u8f09\u3059\u308b\u3053\u3068\u304c\u671b\u307e\u308c\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30b3\u30a2\u7279\u5fb4\uff08\u672c\u75c7\u5019\u7fa4\u306e\u5927\u591a\u6570\u306b\u5171\u901a\u3059\u308b\u4e3b\u8981\u6240\u898b\uff09<\/li>\n\n\n\n<li>\u983b\u5ea6\u306e\u9ad8\u3044\u4ed8\u968f\u75c7\u72b6<\/li>\n\n\n\n<li>\u307e\u308c\u306b\u898b\u3089\u308c\u308b\u3001\u307e\u305f\u306f\u5076\u767a\u7684\u306a\u6240\u898b<br><\/li>\n<\/ul>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u70b9\u3092\u8003\u616e\u3057\u3001\u4eca\u5f8c\u3082\u8868\u73fe\u578b\u306e\u5206\u5e03\u3084\u75c5\u56e0\u306e\u89e3\u660e\u306b\u57fa\u3065\u3044\u305f\u8a18\u8f09\u306e\u66f4\u65b0\u3092\u7d99\u7d9a\u3057\u3066\u884c\u3046\u5fc5\u8981\u304c\u3042\u308a\u307e\u3059\u3002\u672c\u7a3f\u306e\u60c5\u5831\u304c\u5c11\u3057\u3067\u3082\u304a\u5f79\u306b\u7acb\u3066\u305f\u306e\u3067\u3042\u308c\u3070\u3001\u7b46\u8005\u3068\u3057\u3066\u3053\u308c\u4ee5\u4e0a\u306e\u559c\u3073\u306f\u3042\u308a\u307e\u305b\u3093\u3002\u3057\u304b\u3057\u306a\u304c\u3089\u3001\u3053\u306e\u75be\u60a3\u306f\u975e\u5e38\u306b\u7a00\u3067\u3042\u308a\u3001\u75c7\u72b6\u306e\u73fe\u308c\u65b9\u306b\u3082\u500b\u4eba\u5dee\u304c\u3042\u308b\u305f\u3081\u3001\u8a3a\u65ad\u3084\u6cbb\u7642\u65b9\u91dd\u306b\u3064\u3044\u3066\u306f\u5fc5\u305a\u533b\u7642\u5c02\u9580\u5bb6\u306b\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002\u5fc5\u8981\u306b\u5fdc\u3058\u3066\u8907\u6570\u306e\u533b\u7642\u6a5f\u95a2\u3084\u5c02\u9580\u533b\u306e\u610f\u898b\u3092\u5f97\u308b\u3053\u3068\u3082\u5927\u5207\u3067\u3059\u3002\u3069\u3046\u304b\u3001\u3054\u81ea\u8eab\u3068\u304a\u5b50\u3055\u307e\u306e\u5065\u5eb7\u3092\u5927\u5207\u306b\u306a\u3055\u3063\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE\"><\/span>\u5f15\u7528\u6587\u732e<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.63826\">Mitrakos, A., Kekou, K., Tilemis, F. \u2010N., Svingou, M., Papadimas, G., Sofocleous, C., Traeger\u2010Synodinos, J., &amp; Tzetis, M. (2024). Nablus mask\u2010like facial syndrome: Report of an atypical case with 8q21.3\u2013q22.1 deletion. <em>American Journal of Medical Genetics Part A<\/em>, <em>194<\/em>(12), e63826. https:\/\/doi.org\/10.1002\/ajmg.a.63826<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/ajmg.a.35446\">Allanson, J., Smith, A., Hare, H., Albrecht, B., Bijlsma, E., Dallapiccola, B., Donti, E., Fitzpatrick, D., Isidor, B., Lachlan, K., Le Caignec, C., Prontera, P., Raas\u2010Rothschild, A., Rogaia, D., Van Bon, B., Aradhya, S., Crocker, S. F., Jarinova, O., McGowan\u2010Jordan, J., \u2026 Fagerberg, C. R. (2012). Nablus mask\u2010like facial syndrome: Deletion of chromosome 8q22.1 is necessary but not sufficient to cause the phenotype. <em>American Journal of Medical Genetics Part A<\/em>, <em>158A<\/em>(9), 2091\u20132099. https:\/\/doi.org\/10.1002\/ajmg.a.35446<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.orpha.net\/en\/disease\/detail\/178303\">Orphanet. (Last updated October 2010).<em> 8q22.1 microdeletion syndrome.<\/em> Reviewed by Dr Nicole MORICHON-DELVALLEZ. Retrieved from LINK<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/omim.org\/entry\/608156\">Online Mendelian Inheritance in Man. (Last updated July 2010 by Marla J. F. O&#8217;Neill). Retreived from https:\/\/omim.org\/entry\/608156<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ejmg.2009.03.011\">Raas-Rothschild, Annick, et al. \u2018The 8q22.1 Microdeletion Syndrome or Nablus Mask-like Facial Syndrome: Report on Two Patients and Review of the Literature\u2019.&nbsp;<em>European Journal of Medical Genetics<\/em>, vol. 52, no. 2\u20133, Mar. 2009, pp. 140\u201344.&nbsp;<em>DOI.org (Crossref)<\/em>, https:\/\/doi.org\/10.1016\/j.ejmg.2009.03.011.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkae974\">Perez, G., Barber, G. P., Benet-Pages, A., Casper, J., Clawson, H., Diekhans, M., Fischer, C., Gonzalez, J. N., Hinrichs, A. S., Lee, C. M., Nassar, L. R., Raney, B. J., Speir, M. L., van Baren, M. J., Vaske, C. J., Haussler, D., Kent, W. J., &amp; Haeussler, M. (2024). The UCSC Genome Browser database: 2025 update. Nucleic Acids Research, gkae974. https:\/\/doi.org\/10.1093\/nar\/gkae974<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad1049\">Harrison, P. W., Amode, M. R., Austine-Orimoloye, O., Azov, A. G., Barba, M., Barnes, I., Becker, A., Bennett, R., Berry, A., Bhai, J., Bhurji, S. K., Boddu, S., Branco Lins, P. R., Brooks, L., Budhanuru Ramaraju, S., Campbell, L. I., Carbajo Martinez, M., Charkhchi, M., Chougule, K., \u2026 Yates, A. D. (2024). Ensembl 2024. Nucleic Acids Research, 52(D1), D891\u2013D899. https:\/\/doi.org\/10.1093\/nar\/gkad1049<\/a><\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n","protected":false},"excerpt":{"rendered":"\u3053\u306e\u8a18\u4e8b\u306e\u307e\u3068\u3081\u30ca\u30d6\u30eb\u30b9\u4eee\u9762\u69d8\u9854\u75c7\u5019\u7fa4\u306f&#8230;\n <a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nablus-mask-like-facial-syndrome-overview\/\">\u7d9a\u304d\u3092\u8aad\u3080<\/a>","protected":false},"author":79,"featured_media":0,"comment_status":"closed","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_acf_changed":false,"footnotes":""},"categories":[394],"tags":[],"class_list":["post-89769","post","type-post","status-publish","format-standard","hentry","category-uncategorized-2"],"acf":[],"_links":{"self":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/89769","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/users\/79"}],"replies":[{"embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/comments?post=89769"}],"version-history":[{"count":13,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/89769\/revisions"}],"predecessor-version":[{"id":112429,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/posts\/89769\/revisions\/112429"}],"wp:attachment":[{"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/media?parent=89769"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/categories?post=89769"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/www.hiro-clinic.or.jp\/nipt\/wp-json\/wp\/v2\/tags?post=89769"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}