{"id":103302,"date":"2025-07-07T09:56:18","date_gmt":"2025-07-07T00:56:18","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/nipt\/?p=103302"},"modified":"2026-03-04T10:16:12","modified_gmt":"2026-03-04T01:16:12","slug":"roberts-syndrome-esco2-overview","status":"publish","type":"post","link":"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/","title":{"rendered":"\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\uff08ESCO2\u95a2\u9023\u30b3\u30d2\u30fc\u30b7\u30ce\u30d1\u30c1\u30fc\uff09\u3010ESCO2\u3011"},"content":{"rendered":"\n<div style=\"height:20px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<div style=\"border: 4px solid #e9e4f5; background-color: #fcfbff; border-radius: 12px; padding: 1.5rem; margin: 1.5rem 0 2.5rem; font-family: 'Helvetica Neue', sans-serif; line-height: 1.6; box-shadow: 0 2px 8px rgba(0, 0, 0, 0.03);\">\n  <div id=\"ez-toc-container\" class=\"ez-toc-v2_0_83 counter-hierarchy ez-toc-counter ez-toc-grey ez-toc-container-direction\">\n<div class=\"ez-toc-title-container\">\n<p class=\"ez-toc-title\" style=\"cursor:inherit\">\u76ee\u6b21<\/p>\n<span class=\"ez-toc-title-toggle\"><a href=\"#\" class=\"ez-toc-pull-right ez-toc-btn ez-toc-btn-xs ez-toc-btn-default ez-toc-toggle\" aria-label=\"Toggle Table of Content\"><span class=\"ez-toc-js-icon-con\"><span class=\"\"><span class=\"eztoc-hide\" style=\"display:none;\">Toggle<\/span><span class=\"ez-toc-icon-toggle-span\"><svg style=\"fill: #999;color:#999\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" class=\"list-377408\" width=\"20px\" height=\"20px\" viewBox=\"0 0 24 24\" fill=\"none\"><path d=\"M6 6H4v2h2V6zm14 0H8v2h12V6zM4 11h2v2H4v-2zm16 0H8v2h12v-2zM4 16h2v2H4v-2zm16 0H8v2h12v-2z\" fill=\"currentColor\"><\/path><\/svg><svg style=\"fill: #999;color:#999\" class=\"arrow-unsorted-368013\" xmlns=\"http:\/\/www.w3.org\/2000\/svg\" width=\"10px\" height=\"10px\" viewBox=\"0 0 24 24\" version=\"1.2\" baseProfile=\"tiny\"><path d=\"M18.2 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class=\"ez-toc-link ez-toc-heading-3\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\" >\u75be\u60a3\u540d | Disorder<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-4\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E9%91%91%E5%88%A5%E3%81%A8%E9%96%A2%E9%80%A3%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CClinical_Clarification\" >\u9451\u5225\u3068\u95a2\u9023\u75c7\u5019\u7fa4\u306e\u8aac\u660e\uff5cClinical Clarification<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-5\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E6%A6%82%E8%A6%81_Overview\" >\u6982\u8981 | Overview<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-6\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E7%96%AB%E5%AD%A6_Epidemiology\" >\u75ab\u5b66 | Epidemiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-7\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E7%97%85%E5%9B%A0_Etiology\" >\u75c5\u56e0 | Etiology<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-8\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E7%97%87%E7%8A%B6_Symptoms\" >\u75c7\u72b6 | Symptoms<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-9\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E6%88%90%E9%95%B7%EF%BC%88Growth%EF%BC%89\" >\u6210\u9577\uff08Growth\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-10\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E6%89%8B%E8%B6%B3%EF%BC%88Limbs%EF%BC%89\" >\u624b\u8db3\uff08Limbs\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-11\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E9%A1%94%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88Craniofacial%EF%BC%89\" >\u9854\u306e\u7279\u5fb4\uff08Craniofacial\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-12\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E8%84%B3%E3%83%BB%E7%A5%9E%E7%B5%8C%E7%B3%BB%EF%BC%88Neurological%EF%BC%89\" >\u8133\u30fb\u795e\u7d4c\u7cfb\uff08Neurological\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-13\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E6%84%9F%E8%A6%9A%E5%99%A8%E3%83%BB%E7%9B%AE%E3%83%BB%E8%80%B3%EF%BC%88Sensory%EF%BC%89\" >\u611f\u899a\u5668\u30fb\u76ee\u30fb\u8033\uff08Sensory\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-14\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E5%BF%83%E8%87%93%EF%BC%88Cardiac%EF%BC%89\" >\u5fc3\u81d3\uff08Cardiac\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-15\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E6%B3%8C%E5%B0%BF%E3%83%BB%E7%94%9F%E6%AE%96%E5%99%A8%EF%BC%88Genitourinary%EF%BC%89\" >\u6ccc\u5c3f\u30fb\u751f\u6b96\u5668\uff08Genitourinary\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-16\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E7%9A%AE%E8%86%9A%E3%82%84%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88Skin_and_Other_Findings%EF%BC%89\" >\u76ae\u819a\u3084\u305d\u306e\u4ed6\u306e\u7279\u5fb4\uff08Skin and Other Findings\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-17\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\" >\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-18\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E5%88%86%E5%AD%90%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%EF%BC%88Molecular_Genetic_Testing%EF%BC%89\" >\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08Molecular Genetic Testing\uff09<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-19\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB%EF%BC%88Cytogenetic_Analysis%EF%BC%89\" >\u67d3\u8272\u4f53\u691c\u67fb\uff08Cytogenetic Analysis\uff09<\/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\/roberts-syndrome-esco2-overview\/#%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%88Prenatal_Testing%EF%BC%89\" >\u51fa\u751f\u524d\u8a3a\u65ad\uff08Prenatal Testing\uff09<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-21\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\" >\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-22\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E4%BA%88%E5%BE%8C_Prognosis\" >\u4e88\u5f8c | Prognosis<\/a><ul class='ez-toc-list-level-3' ><li class='ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-23\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E7%97%87%E7%8A%B6%E3%81%8C%E9%87%8D%E3%81%84%E5%A0%B4%E5%90%88\" >\u75c7\u72b6\u304c\u91cd\u3044\u5834\u5408<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-3'><a class=\"ez-toc-link ez-toc-heading-24\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E7%97%87%E7%8A%B6%E3%81%8C%E8%BB%BD%E5%BA%A6%E3%80%9C%E4%B8%AD%E7%AD%89%E5%BA%A6%E3%81%AE%E5%A0%B4%E5%90%88\" >\u75c7\u72b6\u304c\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u5834\u5408<\/a><\/li><\/ul><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-25\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E8%A3%9C%E8%B6%B3%EF%BC%9A%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%E3%81%A8%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E5%87%BA%E6%99%82%E3%81%AE%E6%B3%A8%E6%84%8F%EF%BD%9CNote_on_Differential_Diagnosis_and_Genetic_Interpretation\" >\u88dc\u8db3\uff1a\u9451\u5225\u8a3a\u65ad\u3068\u907a\u4f1d\u5b50\u691c\u51fa\u6642\u306e\u6ce8\u610f\uff5cNote on Differential Diagnosis and Genetic Interpretation<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-26\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E8%A3%9C%E8%B6%B3%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E3%81%94%E5%AE%B6%E6%97%8F%E3%83%BB%E4%BF%9D%E8%AD%B7%E8%80%85%E3%81%AE%E6%96%B9%E3%81%B8\" >\u88dc\u8db3\u307e\u3068\u3081\uff1a\u3054\u5bb6\u65cf\u30fb\u4fdd\u8b77\u8005\u306e\u65b9\u3078<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-27\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\" >\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-28\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E5%BC%95%E7%94%A8%E6%96%87%E7%8C%AE%EF%BD%9CReferences\" >\u5f15\u7528\u6587\u732e\uff5cReferences<\/a><\/li><li class='ez-toc-page-1 ez-toc-heading-level-2'><a class=\"ez-toc-link ez-toc-heading-29\" href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/roberts-syndrome-esco2-overview\/#%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\" >\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<\/a><\/li><\/ul><\/nav><\/div>\n<h2 style=\"margin-top: 0; margin-bottom: 0.75rem; font-size: 1.25rem; color: #7e6cae; text-align: left; border: none; border-bottom: none; padding-bottom: 0; display: block;\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E3%81%BE%E3%81%A8%E3%82%81\"><\/span>\u3084\u3055\u3057\u3044\u307e\u3068\u3081<span class=\"ez-toc-section-end\"><\/span><\/h2>\n  <p style=\"margin: 0; font-size: 1rem; color: #444;\">\n    <div>\n  <p>\n    \u300c\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\uff08Roberts syndrome\uff09\u300d\u306f\u3001\u3068\u3066\u3082\u307e\u308c\u306a\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3001\u751f\u307e\u308c\u3064\u304d\u624b\u8db3\u306e\u77ed\u3055\u3084\u9854\u7acb\u3061\u306e\u7279\u5fb4\u3001\u6210\u9577\u306e\u9045\u308c\u306a\u3069\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u75c5\u6c17\u306e\u539f\u56e0\u306f\u3001\u67d3\u8272\u4f53\u304c\u3046\u307e\u304f\u5206\u304b\u308c\u308b\u3088\u3046\u306b\u52a9\u3051\u308b\u300cESCO2\u300d\u3068\u3044\u3046\u907a\u4f1d\u5b50\u306e\u5909\u5316\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002\n  <\/p>\n  <p>\n    \u3053\u306e\u75c5\u6c17\u306e\u7279\u5fb4\u3068\u3057\u3066\u306f\u3001\u80ce\u5185\u3067\u306e\u767a\u80b2\u304c\u3086\u3063\u304f\u308a\u3067\u3042\u308b\u3053\u3068\u3001\u4e21\u624b\u8db3\u306e\u5de6\u53f3\u5bfe\u79f0\u306a\u77ed\u7e2e\u3084\u6b20\u640d\u3001\u53e3\u5507\u53e3\u84cb\u88c2\u3001\u5c0f\u3055\u3081\u306e\u982d\uff08\u5c0f\u982d\u75c7\uff09\u306a\u3069\u304c\u6319\u3052\u3089\u308c\u307e\u3059\u3002\u307e\u305f\u3001\u67d3\u8272\u4f53\u3092\u8a73\u3057\u304f\u8abf\u3079\u308b\u691c\u67fb\u3067\u306f\u3001\u300cRS\u52b9\u679c\u300d\u3068\u547c\u3070\u308c\u308b\u7279\u6709\u306e\u5909\u5316\u304c\u898b\u3064\u304b\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\n  <\/p>\n  <p>\n    \u3053\u306e\u8a18\u4e8b\u3067\u306f\u3001\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3001\u4e3b\u306a\u75c7\u72b6\u3001\u691c\u67fb\u65b9\u6cd5\u3001\u6cbb\u7642\u3084\u30b5\u30dd\u30fc\u30c8\u306e\u8003\u3048\u65b9\u3001\u305d\u3057\u3066\u3054\u5bb6\u65cf\u304c\u77e5\u3063\u3066\u304a\u304f\u3068\u5b89\u5fc3\u3067\u304d\u308b\u60c5\u5831\u3092\u3084\u3055\u3057\u304f\u89e3\u8aac\u3057\u3066\u3044\u307e\u3059\u3002\u6c17\u306b\u306a\u308b\u75c7\u72b6\u304c\u3042\u308b\u65b9\u3084\u3001\u907a\u4f1d\u306e\u3053\u3068\u304c\u5fc3\u914d\u306a\u65b9\u306b\u3068\u3063\u3066\u3001\u53c2\u8003\u306b\u306a\u308b\u5185\u5bb9\u3068\u306a\u3063\u3066\u3044\u307e\u3059\u3002\n  <\/p>\n<\/div>\n\n  <\/p>\n<\/div>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%81%BA%E4%BC%9D%E5%AD%90%E9%A0%98%E5%9F%9F_Implicated_Genomic_Region\"><\/span>\u907a\u4f1d\u5b50\u9818\u57df | Implicated Genomic Region<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p class=\"has-text-align-center\"><strong>ESCO2<\/strong><\/p>\n\n\n<div class=\"wp-block-image\">\n<figure class=\"aligncenter size-large\"><img decoding=\"async\" width=\"1024\" height=\"26\" src=\"\/nipt\/wp-content\/uploads\/2025\/07\/ESCO2-hgtIdeo_genome_asia_37499f_724fb0-1024x26.png\" alt=\"ESCO2\" class=\"wp-image-103303\"\/><\/figure><\/div>\n\n\n<div style=\"height:18px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>ESCO2\u907a\u4f1d\u5b50\uff08\u30a8\u30b9\u30b3\u30fc\u30c4\u30fc\u3001\u82f1\u8a9e\u540d\uff1a<em>Establishment of Sister Chromatid Cohesion N-Acetyltransferase 2<\/em>\uff09\u306f\u3001\u30d2\u30c8\u306e\u67d3\u8272\u4f53\u306e8\u756a\u3001\u77ed\u8155\uff08p\uff0921.1\u9818\u57df\u306b\u4f4d\u7f6e\u3057\u3066\u3044\u307e\u3059\uff08GRCh38\u53c2\u7167\uff1achr8:27,771,949\u201327,819,660\uff09\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001601\u500b\u306e\u30a2\u30df\u30ce\u9178\u304b\u3089\u306a\u308b\u300c\u30a2\u30bb\u30c1\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc\u300d\u3068\u3044\u3046\u9175\u7d20\u3092\u3064\u304f\u308b\u8a2d\u8a08\u56f3\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u9175\u7d20\u306e\u5f79\u5272\u306f\u3001\u7d30\u80de\u304c\u5206\u88c2\u3059\u308b\u3068\u304d\u306b\u91cd\u8981\u306a\u300c\u59c9\u59b9\u67d3\u8272\u5206\u4f53\uff08\u3057\u3057\u307e\u3044\u305b\u3093\u3057\u3087\u304f\u3076\u3093\u305f\u3044\uff09\u300d\u3001\u3064\u307e\u308a\u540c\u3058DNA\u3092\u6301\u30642\u672c\u306e\u67d3\u8272\u4f53\u304c\u6b63\u3057\u304f\u5bfe\u306b\u306a\u3063\u3066\u5206\u304b\u308c\u308b\u3088\u3046\u306b\u3059\u308b\u3053\u3068\u3067\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\u3001ESCO2\u306f\u300cSMC3\uff08\u30a8\u30b9\u30a8\u30e0\u30b7\u30fc\u30b9\u30ea\u30fc\uff09\u300d\u3068\u3044\u3046\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u30a2\u30bb\u30c1\u30eb\u5316\uff08\u7279\u5b9a\u306e\u5316\u5b66\u4fee\u98fe\u3092\u52a0\u3048\u308b\u3053\u3068\uff09\u3059\u308b\u3053\u3068\u3067\u3001\u67d3\u8272\u4f53\u304c\u3057\u3063\u304b\u308a\u3068\u7d50\u3073\u3064\u3044\u305f\u72b6\u614b\u3092\u4fdd\u3066\u308b\u3088\u3046\u306b\u3057\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u50cd\u304d\u306f\u3001DNA\u304c\u8907\u88fd\u3055\u308c\u308b\u7d30\u80de\u5468\u671f\u306e\u300cS\u671f\uff08\u30a8\u30b9\u304d\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u30bf\u30a4\u30df\u30f3\u30b0\u3067\u306e\u307f\u5fc5\u8981\u3068\u306a\u308a\u307e\u3059\u3002S\u671f\u306b\u306f\u3001ESCO2\u304cDNA\u8907\u88fd\u3092\u52a9\u3051\u308b\u88c5\u7f6e\u3067\u3042\u308bPCNA\uff08\u30d7\u30ed\u30ea\u30d5\u30a7\u30ec\u30fc\u30c6\u30a3\u30f3\u30b0\u30fb\u30bb\u30eb\u30fb\u30cb\u30e5\u30fc\u30af\u30ea\u30a2\u30fb\u30a2\u30f3\u30c1\u30b2\u30f3\uff09\u3084MCM\u30d8\u30ea\u30ab\u30fc\u30bc\uff08DNA\u3092\u307b\u3069\u304f\u9175\u7d20\uff09\u306a\u3069\u3068\u9023\u643a\u3057\u3066\u52d5\u3044\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3064\u307e\u308a\u3001ESCO2\u306f\u300c\u7d30\u80de\u5206\u88c2\u306b\u5fc5\u8981\u306a\u57fa\u672c\u7684\u306a\u4ed5\u7d44\u307f\u306e\u3072\u3068\u3064\u300d\u3067\u3042\u308a\u3001\u305d\u306e\u4ed5\u7d44\u307f\u306b\u4e0d\u5177\u5408\u304c\u3042\u308b\u3068\u3001\u67d3\u8272\u4f53\u304c\u3046\u307e\u304f\u5206\u914d\u3055\u308c\u305a\u3001\u4f53\u306e\u6210\u9577\u3084\u81d3\u5668\u306e\u767a\u9054\u306b\u5927\u304d\u306a\u5f71\u97ff\u3092\u4e0e\u3048\u308b\u3053\u3068\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%BE%E6%82%A3%E5%90%8D_Disorder\"><\/span>\u75be\u60a3\u540d | Disorder<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306b\u5909\u5316\uff08\u5909\u7570\uff09\u304c\u4e21\u89aa\u304b\u30891\u3064\u305a\u3064\u53d7\u3051\u7d99\u304c\u308c\u3066\u8d77\u3053\u308b\u75c5\u6c17\u304c\u3001\u300c\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\uff08Roberts syndrome\u3001\u7565\u79f0\uff1aRBS\u3001OMIM\u756a\u53f7\uff1a268300\uff09\u300d\u3067\u3059\u3002\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306f\u3001\u3054\u304f\u307e\u308c\u306b\u898b\u3089\u308c\u308b\u5e38\u67d3\u8272\u4f53\u52a3\u6027\uff08\u3058\u3087\u3046\u305b\u3093\u3057\u3087\u304f\u305f\u3044\u308c\u3063\u305b\u3044\uff09\u306e\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u3053\u308c\u306f\u3001\u4e21\u89aa\u306e\u3069\u3061\u3089\u3082\u540c\u3058\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u3092\u6301\u3063\u3066\u3044\u305f\u5834\u5408\u306b\u3001\u5b50\u3069\u3082\u306b\u305d\u306e\u75c5\u6c17\u304c\u73fe\u308c\u308b\u53ef\u80fd\u6027\u304c\u3042\u308b\u3068\u3044\u3046\u907a\u4f1d\u306e\u5f62\u5f0f\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306f\u3001\u300c\u30b3\u30d2\u30fc\u30b7\u30ce\u30d1\u30c1\u30fc\uff08cohesinopathy\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u75c5\u6c17\u306e\u4e00\u7fa4\u306b\u542b\u307e\u308c\u3066\u3044\u307e\u3059\u3002\u30b3\u30d2\u30fc\u30b7\u30ce\u30d1\u30c1\u30fc\u3068\u306f\u3001\u67d3\u8272\u4f53\u306e\u5206\u88c2\u3084\u6574\u5217\u3092\u52a9\u3051\u308b\u300c\u30b3\u30d2\u30fc\u30b7\u30f3\u8907\u5408\u4f53\uff08cohesin complex\uff09\u300d\u3068\u3044\u3046\u4ed5\u7d44\u307f\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u3053\u3068\u3067\u8d77\u3053\u308b\u3001\u3055\u307e\u3056\u307e\u306a\u767a\u9054\u969c\u5bb3\u306e\u3053\u3068\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306e\u4e3b\u306a\u7279\u5fb4\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u3082\u306e\u304c\u3042\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u80ce\u5150\u671f\u304b\u3089\u59cb\u307e\u308b\u8457\u3057\u3044\u6210\u9577\u306e\u9045\u308c\uff08\u80ce\u5185\u767a\u80b2\u9045\u5ef6\uff09<\/li>\n\n\n\n<li>\u4e21\u5074\u5bfe\u79f0\u306e\u624b\u8db3\u306e\u5f62\u6210\u7570\u5e38\uff08\u3068\u304f\u306b\u8155\u3084\u811a\u306e\u77ed\u7e2e\uff09<\/li>\n\n\n\n<li>\u53e3\u5507\u53e3\u84cb\u88c2\uff08\u3053\u3046\u3057\u3093\u3053\u3046\u304c\u3044\u308c\u3064\uff09\u306a\u3069\u306e\u9854\u306e\u5f62\u306e\u7570\u5e38<\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u691c\u67fb\u3067\u898b\u3089\u308c\u308b\u7279\u6709\u306e\u30b5\u30a4\u30f3\u3067\u3042\u308b\u300cRS\u52b9\u679c\uff08RS effect\uff09\u300d<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u300cRS\u52b9\u679c\u300d\u3068\u306f\u3001\u67d3\u8272\u4f53\u306e\u9855\u5fae\u93e1\u753b\u50cf\u306b\u304a\u3044\u3066\u3001\u67d3\u8272\u4f53\u306e\u4e2d\u5fc3\u90e8\u5206\u304c\u65e9\u304f\u5206\u304b\u308c\u3066\u3057\u307e\u3046\u300c\u65e9\u671f\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u5206\u96e2\uff08premature centromere separation\uff09\u300d\u3084\u3001\u300c\u30d8\u30c6\u30ed\u30af\u30ed\u30de\u30c1\u30f3\u306e\u53cd\u767a\uff08heterochromatin repulsion\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u73fe\u8c61\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u3067\u3059\u3002\u3053\u308c\u3089\u306f\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u3092\u8a3a\u65ad\u3059\u308b\u3046\u3048\u3067\u306e\u5927\u304d\u306a\u624b\u304c\u304b\u308a\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306f\u3001\u8d64\u3061\u3083\u3093\u304c\u751f\u307e\u308c\u308b\u524d\u304b\u3089\u75c7\u72b6\u304c\u59cb\u307e\u308a\u3001\u51fa\u751f\u6642\u306b\u306f\u660e\u3089\u304b\u306a\u8eab\u4f53\u306e\u7570\u5e38\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u305f\u3081\u3001\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u306f\u975e\u5e38\u306b\u4e0d\u5b89\u306e\u5927\u304d\u3044\u75be\u60a3\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u305d\u306e\u75c7\u72b6\u3084\u91cd\u75c7\u5ea6\u306b\u306f\u5e45\u304c\u3042\u308a\u3001\u4e2d\u306b\u306f\u6bd4\u8f03\u7684\u8efd\u3044\u5f62\u3067\u6210\u9577\u3067\u304d\u308b\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%91%91%E5%88%A5%E3%81%A8%E9%96%A2%E9%80%A3%E7%97%87%E5%80%99%E7%BE%A4%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CClinical_Clarification\"><\/span><strong>\u9451\u5225\u3068\u95a2\u9023\u75c7\u5019\u7fa4\u306e\u8aac\u660e\uff5cClinical Clarification<\/strong><span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u3068\u975e\u5e38\u306b\u3088\u304f\u4f3c\u305f\u75c7\u72b6\u3092\u793a\u3059\u3001\u4ed6\u306e\u307e\u308c\u306a\u75c5\u6c17\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u4e2d\u306b\u306f\u3001\u300cSC\u30d5\u30a9\u30b3\u30e1\u30ea\u30a2\u75c7\u5019\u7fa4\uff08SC phocomelia syndrome\uff09\u300d\u3084\u300c\u30b8\u30e5\u30d0\u30fc\u30b0\uff1d\u30d8\u30a4\u30ef\u30fc\u30c9\u75c7\u5019\u7fa4\uff08Juberg-Hayward syndrome, JHS\uff09\u300d\u306a\u3069\u304c\u542b\u307e\u308c\u307e\u3059\u3002\u3053\u308c\u3089\u306e\u75be\u60a3\u3082\u3001\u540c\u3058\u304fESCO2\u907a\u4f1d\u5b50\u306e\u5909\u7570\u306b\u3088\u3063\u3066\u8d77\u3053\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c7\u72b6\u3068\u3057\u3066\u306f\u3001\u3044\u305a\u308c\u3082\u5171\u901a\u3057\u3066\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5507\u3084\u53e3\u84cb\u306b\u88c2\u3051\u76ee\u304c\u3067\u304d\u308b\u300c\u53e3\u5507\u53e3\u84cb\u88c2\u300d<\/li>\n\n\n\n<li>\u982d\u56f2\u304c\u5c0f\u3055\u304f\u306a\u308b\u300c\u5c0f\u982d\u75c7\uff08\u3057\u3087\u3046\u3068\u3046\u3057\u3087\u3046\uff09\u300d<\/li>\n\n\n\n<li>\u624b\u8db3\u306e\u77ed\u7e2e\u3084\u6b20\u640d<\/li>\n\n\n\n<li>\u51fa\u751f\u6642\u304b\u3089\u306e\u6210\u9577\u306e\u9045\u308c<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u30b8\u30e5\u30d0\u30fc\u30b0\uff1d\u30d8\u30a4\u30ef\u30fc\u30c9\u75c7\u5019\u7fa4\uff08JHS\uff09\u306f\u3001\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u3068\u6bd4\u3079\u3066\u6bd4\u8f03\u7684\u8efd\u75c7\u3067\u3042\u308b\u3053\u3068\u304c\u591a\u304f\u3001\u77e5\u7684\u306a\u767a\u9054\u306b\u554f\u984c\u304c\u898b\u3089\u308c\u306a\u3044\u30b1\u30fc\u30b9\u3082\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u8098\u306e\u9aa8\u304c\u304f\u3063\u3064\u3044\u3066\u3057\u307e\u3046\u300c\u8098\u95a2\u7bc0\u7652\u5408\uff08\u3061\u3085\u3046\u304b\u3093\u305b\u3064\u3086\u3054\u3046\uff09\u300d\u306a\u3069\u3001JHS\u7279\u6709\u306e\u7279\u5fb4\u3082\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u9055\u3044\u304b\u3089\u3001\u7814\u7a76\u8005\u306e\u4e2d\u306b\u306f\u300cJHS\u306f\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306e\u4e00\u7a2e\u300d\u3068\u3059\u308b\u610f\u898b\u3082\u3042\u308c\u3070\u3001\u300c\u307e\u3063\u305f\u304f\u5225\u306e\u75be\u60a3\u3067\u3042\u308b\u300d\u3068\u8003\u3048\u308b\u5c02\u9580\u5bb6\u3082\u3044\u307e\u3059\u3002\u305f\u3068\u3048\u30702021\u5e74\u306eKantaputra\u3089\u306e\u7814\u7a76\u3067\u306f\u3001JHS\u306f\u72ec\u7acb\u3057\u305f\u75c5\u6c17\u3068\u3057\u3066\u5206\u985e\u3055\u308c\u308b\u3079\u304d\u3060\u3068\u3044\u3046\u898b\u89e3\u304c\u793a\u3055\u308c\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u3001\u540c\u3058\u907a\u4f1d\u5b50\u306b\u95a2\u308f\u308b\u75c5\u6c17\u3067\u3082\u75c7\u72b6\u306e\u5e45\u304c\u5e83\u304f\u3001\u306f\u3063\u304d\u308a\u3068\u3057\u305f\u7dda\u5f15\u304d\u304c\u96e3\u3057\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u305d\u306e\u305f\u3081\u3001\u907a\u4f1d\u5b50\u691c\u67fb\u3067ESCO2\u306b\u5909\u5316\u304c\u898b\u3064\u304b\u3063\u305f\u5834\u5408\u306b\u306f\u3001\u75c7\u72b6\u306e\u6709\u7121\u3084\u4f53\u306e\u7279\u5fb4\u306a\u3069\u3092\u5c02\u9580\u306e\u533b\u5e2b\uff08\u81e8\u5e8a\u907a\u4f1d\u5c02\u9580\u533b\uff09\u3068\u4e00\u7dd2\u306b\u8a73\u3057\u304f\u78ba\u8a8d\u3059\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u672c\u8a18\u4e8b\u3067\u306f\u3001\u3053\u306e\u3088\u3046\u306a\u985e\u4f3c\u75be\u60a3\u306e\u4e2d\u3067\u3082\u6700\u3082\u3088\u304f\u7814\u7a76\u3055\u308c\u3001\u7279\u5fb4\u304c\u660e\u3089\u304b\u306a\u300c\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u300d\u306b\u7126\u70b9\u3092\u3042\u3066\u3066\u8aac\u660e\u3092\u9032\u3081\u307e\u3059\u3002<\/p>\n\n\n\n    <a href=\"\/nipt\/bartter-syndrome-bsnd-type4a\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">\u30d0\u30fc\u30c1\u30f3\u95a2\u9023Bartter\u75c7\u5019\u7fa4\uff08\u30bf\u30a4\u30d7IVa\uff09\u3010BSND\u3011 <\/div>\n          <div class=\"blog-card-excerpt\">BSND\u907a\u4f1d\u5b50\u306b\u95a2\u9023\u3059\u308bBartter\u75c7\u5019\u7fa4\uff08\u30bf\u30a4\u30d7IVa\uff09\u306f\u3001\u814e\u81d3\u306e\u5869\u5206\u8abf\u6574\u306e\u7570\u5e38\u306b\u3088\u308a\u3001\u4f4e\u30ab\u30ea\u30a6\u30e0\u8840\u75c7\u3084\u96e3\u8074\u3092\u5f15\u304d\u8d77\u3053\u3057\u307e\u3059\u3002\u75c7\u72b6\u30fb\u691c\u67fb...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A6%82%E8%A6%81_Overview\"><\/span>\u6982\u8981 | Overview<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306f\u3001\u300c\u30b3\u30d2\u30fc\u30b7\u30ce\u30d1\u30c1\u30fc\uff08cohesinopathy\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u75be\u60a3\u306e\u3072\u3068\u3064\u3067\u3059\u3002\u3053\u306e\u30b0\u30eb\u30fc\u30d7\u306e\u75be\u60a3\u306f\u3001\u7d30\u80de\u304c\u5206\u88c2\u3059\u308b\u969b\u306b\u5fc5\u8981\u306a\u67d3\u8272\u4f53\u306e\u307e\u3068\u307e\u308a\uff08\u59c9\u59b9\u67d3\u8272\u5206\u4f53\u306e\u7d50\u5408\uff09\u304c\u6b63\u3057\u304f\u884c\u308f\u308c\u306a\u3044\u3053\u3068\u306b\u3088\u308a\u3001\u3055\u307e\u3056\u307e\u306a\u554f\u984c\u304c\u5f15\u304d\u8d77\u3053\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u75c5\u6c17\u306e\u6700\u5927\u306e\u7279\u5fb4\u306f\u3001\u300cRS\u52b9\u679c\uff08RS effect\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u67d3\u8272\u4f53\u30ec\u30d9\u30eb\u306e\u7570\u5e38\u304c\u3001\u9855\u5fae\u93e1\u3067\u78ba\u8a8d\u3067\u304d\u308b\u3068\u3044\u3046\u70b9\u3067\u3059\u3002\u5177\u4f53\u7684\u306b\u306f\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u306e\u4e2d\u5fc3\uff08\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\uff09\u304c\u3001\u5206\u88c2\u6642\u671f\u3088\u308a\u3082\u65e9\u304f\u96e2\u308c\u3066\u3057\u307e\u3046\u300c\u65e9\u671f\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u5206\u96e2\uff08premature centromere separation, PCS\uff09\u300d<\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u306e\u4e00\u90e8\uff08\u3068\u304f\u306b\u30d8\u30c6\u30ed\u30af\u30ed\u30de\u30c1\u30f3\u3068\u547c\u3070\u308c\u308b\u90e8\u5206\uff09\u304c\u3001\u3075\u304f\u3089\u3093\u3060\u308a\u53cd\u767a\u3057\u305f\u3088\u3046\u306b\u898b\u3048\u308b\u300c\u30d8\u30c6\u30ed\u30af\u30ed\u30de\u30c1\u30f3\u53cd\u767a\uff08heterochromatin repulsion, HR\uff09\u300d<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u3001\u7d30\u80de\u304c\u5206\u88c2\u3059\u308b\u3068\u304d\u306b\u89b3\u5bdf\u3055\u308c\u308b\u73fe\u8c61\u3067\u3001\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u7279\u6709\u306e\u8a3a\u65ad\u30b5\u30a4\u30f3\u3068\u3057\u3066\u91cd\u8996\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001\u75c5\u6c17\u306e\u539f\u56e0\u3068\u306a\u308bESCO2\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u3042\u308b\u3068\u3001\u30b3\u30d2\u30fc\u30b7\u30f3\u8907\u5408\u4f53\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u304f\u306a\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u3088\u3063\u3066\u3001DNA\u306e\u30b3\u30d4\u30fc\u304c\u6b63\u3057\u304f\u4e26\u3079\u3089\u308c\u305a\u3001\u7d30\u80de\u306e\u4e2d\u3067\u67d3\u8272\u4f53\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u308a\u307e\u3059\u3002\u305d\u306e\u7d50\u679c\u3068\u3057\u3066\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u7d30\u80de\u5206\u88c2\u304c\u3046\u307e\u304f\u9032\u307e\u305a\u3001\u6210\u9577\u3084\u767a\u9054\u304c\u59a8\u3052\u3089\u308c\u308b<\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u306e\u7570\u5e38\u304c\u8d77\u3053\u308a\u3084\u3059\u304f\u306a\u308b\uff08\u7570\u6570\u6027\uff09<\/li>\n\n\n\n<li>\u7d30\u80de\u304c\u65e9\u304f\u6b7b\u3093\u3067\u3057\u307e\u3046\uff08\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff09<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u307e\u305f\u3001\u5916\u7684\u306a\u8981\u56e0\u3067\u3042\u308b\u300c\u30b5\u30ea\u30c9\u30de\u30a4\u30c9\u80ce\u82bd\u75c7\uff08thalidomide embryopathy, TE\uff09\u300d\u3082\u3001\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u3068\u975e\u5e38\u306b\u3088\u304f\u4f3c\u305f\u7279\u5fb4\u3092\u793a\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u30b5\u30ea\u30c9\u30de\u30a4\u30c9\u306f\u3001\u304b\u3064\u3066\u598a\u5a20\u4e2d\u306e\u3064\u308f\u308a\u6b62\u3081\u3068\u3057\u3066\u4f7f\u308f\u308c\u3066\u3044\u305f\u85ac\u3067\u3059\u304c\u3001\u80ce\u5150\u306b\u91cd\u5927\u306a\u5f71\u97ff\u3092\u53ca\u307c\u3059\u3053\u3068\u304c\u3042\u308a\u307e\u3057\u305f\u3002<\/p>\n\n\n\n<p>TE\u3068\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306f\u898b\u305f\u76ee\u306e\u7279\u5fb4\u304c\u975e\u5e38\u306b\u3088\u304f\u4f3c\u3066\u3044\u308b\u305f\u3081\u3001\u300c\u507d\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\uff08phenocopy\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u8208\u5473\u6df1\u3044\u3053\u3068\u306b\u3001\u6700\u8fd1\u306e\u7814\u7a76\u3067\u306f\u30b5\u30ea\u30c9\u30de\u30a4\u30c9\u304cESCO2\u306e\u50cd\u304d\u3092\u6291\u3048\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u304d\u3066\u304a\u308a\u3001\u3053\u306e\u3053\u3068\u304c\u75c7\u72b6\u306e\u985e\u4f3c\u6027\u3092\u8aac\u660e\u3059\u308b\u624b\u304c\u304b\u308a\u306b\u306a\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%96%AB%E5%AD%A6_Epidemiology\"><\/span>\u75ab\u5b66 | Epidemiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\uff08Roberts syndrome\uff09\u306f\u3001\u975e\u5e38\u306b\u307e\u308c\u306a\u75c5\u6c17\u3067\u3042\u308a\u3001\u3053\u308c\u307e\u3067\u306b\u4e16\u754c\u4e2d\u3067150\u4f8b\u672a\u6e80\u3057\u304b\u533b\u5b66\u6587\u732e\u306b\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u305b\u3093\u3002\u305f\u3060\u3057\u3001\u5b9f\u969b\u306b\u306f\u305d\u308c\u4ee5\u4e0a\u306e\u60a3\u8005\u3055\u3093\u304c\u5b58\u5728\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002\u305d\u306e\u7406\u7531\u3068\u3057\u3066\u306f\u3001\u6b21\u306e\u3088\u3046\u306a\u80cc\u666f\u304c\u3042\u308b\u305f\u3081\u3067\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u8a3a\u65ad\u304c\u96e3\u3057\u3044\u3053\u3068<\/li>\n\n\n\n<li>\u75c7\u72b6\u306e\u51fa\u65b9\u306b\u500b\u4eba\u5dee\u304c\u5927\u304d\u304f\u3001\u300c\u5178\u578b\u7684\u3067\u306f\u306a\u3044\u300d\u30b1\u30fc\u30b9\u304c\u898b\u9003\u3055\u308c\u3084\u3059\u3044\u3053\u3068<\/li>\n\n\n\n<li>\u985e\u4f3c\u75be\u60a3\u3068\u306e\u533a\u5225\u304c\u3064\u304d\u306b\u304f\u3044\u3053\u3068\uff08\u4f8b\uff1a\u30b8\u30e5\u30d0\u30fc\u30b0\uff1d\u30d8\u30a4\u30ef\u30fc\u30c9\u75c7\u5019\u7fa4\u306a\u3069\uff09<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/nipt\/testing\/#anchor_sex\">\u6027\u5225<\/a>\u3084\u4eba\u7a2e\u306b\u95a2\u4fc2\u306a\u304f\u767a\u75c7\u3059\u308b\u53ef\u80fd\u6027\u304c\u3042\u308a\u3001\u4e21\u89aa\u304c\u8fd1\u3044\u89aa\u621a\u540c\u58eb\uff08\u8840\u7e01\u5a5a\uff09\u3067\u3042\u308b\u5bb6\u65cf\u3067\u3088\u308a\u591a\u304f\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u5730\u57df\u7684\u306b\u7279\u5b9a\u306e\u5909\u7570\u304c\u591a\u304f\u898b\u3089\u308c\u308b\u3053\u3068\uff08\u5275\u59cb\u8005\u52b9\u679c\uff09\u3082\u3042\u308a\u307e\u3059\u3002\u305f\u3068\u3048\u3070\u3001\u5357\u7c73\u30b3\u30ed\u30f3\u30d3\u30a2\u3067\u306f\u3001c.505C&gt;T\uff08p.Arg169Ter\uff09\u3068\u3044\u3046\u7279\u5b9a\u306e\u5909\u7570\u304c\u4e00\u90e8\u306e\u5730\u57df\u3067\u3088\u304f\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u308f\u304b\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%85%E5%9B%A0_Etiology\"><\/span>\u75c5\u56e0 | Etiology<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306f\u3001ESCO2\u907a\u4f1d\u5b50\u306e\u4e21\u65b9\u306e\u30b3\u30d4\u30fc\uff08\u5bfe\u7acb\u907a\u4f1d\u5b50\uff09\u306b\u5909\u5316\u304c\u3042\u308b\uff08\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff09\u3053\u3068\u3067\u8d77\u3053\u308a\u307e\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306f\u3001\u7d30\u80de\u304cDNA\u3092\u8907\u88fd\u3059\u308b\u3068\u304d\u306b\u3001\u67d3\u8272\u4f53\u540c\u58eb\u3092\u3057\u3063\u304b\u308a\u3068\u7d50\u3073\u3064\u3051\u3066\u304a\u304f\u300c\u30b3\u30d2\u30fc\u30b7\u30f3\u7d50\u5408\uff08chromatid cohesion\uff09\u300d\u3092\u6b63\u3057\u304f\u884c\u3046\u305f\u3081\u306b\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>ESCO2\u304c\u6b63\u5e38\u306b\u50cd\u304b\u306a\u304f\u306a\u308b\u3068\u3001\u7d30\u80de\u304c\u5206\u88c2\u3059\u308b\u3068\u304d\u306b\u67d3\u8272\u4f53\u304c\u3070\u3089\u3070\u3089\u306b\u306a\u3063\u3066\u3057\u307e\u3044\u3001\u6b63\u3057\u3044\u5206\u914d\u304c\u3067\u304d\u306a\u304f\u306a\u308a\u307e\u3059\u3002 \u305d\u306e\u7d50\u679c\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7d30\u80de\u30ec\u30d9\u30eb\u306e\u554f\u984c\u304c\u8d77\u3053\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u67d3\u8272\u4f53\u306e\u4e2d\u5fc3\u304c\u65e9\u304f\u5206\u96e2\u3057\u3066\u3057\u307e\u3046\uff08\u65e9\u671f\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u5206\u96e2\uff1aPCS\uff09<\/li>\n\n\n\n<li>\u30d8\u30c6\u30ed\u30af\u30ed\u30de\u30c1\u30f3\u306e\u90e8\u5206\u304c\u53cd\u767a\u3057\u3066\u958b\u3044\u3066\u3057\u307e\u3046\uff08\u30d8\u30c6\u30ed\u30af\u30ed\u30de\u30c1\u30f3\u53cd\u767a\uff1aHR\uff09<\/li>\n\n\n\n<li>\u67d3\u8272\u4f53\u304c\u4e0d\u5b89\u5b9a\u306b\u306a\u308b\uff08\u67d3\u8272\u4f53\u4e0d\u5b89\u5b9a\u6027\uff09<\/li>\n\n\n\n<li>\u7570\u6570\u6027\uff08\u4f59\u5206\u306a\u67d3\u8272\u4f53\u3084\u6b20\u640d\uff09\u304c\u8d77\u3053\u308a\u3084\u3059\u304f\u306a\u308b<\/li>\n\n\n\n<li>\u7d30\u80de\u304c\u81ea\u7136\u6b7b\uff08\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff09\u3092\u8d77\u3053\u3057\u3084\u3059\u304f\u306a\u308b<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u539f\u56e0\u3068\u306a\u308b\u907a\u4f1d\u5b50\u5909\u7570\u306b\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u30bf\u30a4\u30d7\u304c\u3042\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30ca\u30f3\u30bb\u30f3\u30b9\u5909\u7570\uff08\u30bf\u30f3\u30d1\u30af\u8cea\u3092\u9014\u4e2d\u3067\u6b62\u3081\u3066\u3057\u307e\u3046\uff09<\/li>\n\n\n\n<li>\u30d5\u30ec\u30fc\u30e0\u30b7\u30d5\u30c8\u5909\u7570\uff08\u8aad\u307f\u67a0\u304c\u305a\u308c\u3066\u5168\u304f\u7570\u306a\u308b\u30bf\u30f3\u30d1\u30af\u8cea\u304c\u3067\u304d\u308b\uff09<\/li>\n\n\n\n<li>\u30b9\u30d7\u30e9\u30a4\u30b9\u90e8\u4f4d\u5909\u7570\uff08\u907a\u4f1d\u5b50\u306e\u5207\u308a\u8cbc\u308a\u304c\u6b63\u3057\u304f\u3067\u304d\u306a\u3044\uff09<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u4e00\u90e8\u306e\u5909\u7570\uff08\u305f\u3068\u3048\u3070 p.Arg552Ter\uff09\u3067\u306f\u3001\u30bf\u30f3\u30d1\u30af\u8cea\u306e\u50cd\u304d\u304c\u5b8c\u5168\u306b\u306f\u5931\u308f\u308c\u3066\u304a\u3089\u305a\u3001\u90e8\u5206\u7684\u306b\u6a5f\u80fd\u3092\u6b8b\u3057\u3066\u3044\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u306e\u3088\u3046\u306a\u5834\u5408\u3001\u75c7\u72b6\u304c\u8efd\u304f\u306a\u308b\u53ef\u80fd\u6027\u3082\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u305f\u3060\u3057\u3001\u73fe\u5728\u306e\u3068\u3053\u308d\u3001\u3069\u306e\u5909\u7570\u304c\u3069\u306e\u7a0b\u5ea6\u306e\u75c7\u72b6\u3092\u5f15\u304d\u8d77\u3053\u3059\u304b\u3068\u3044\u3046\u300c\u907a\u4f1d\u5b50\u3068\u75c7\u72b6\u306e\u95a2\u4fc2\uff08\u907a\u4f1d\u5b50\u2013\u8868\u73fe\u578b\u76f8\u95a2\uff09\u300d\u306f\u3001\u307e\u3060\u306f\u3063\u304d\u308a\u3068\u308f\u304b\u3063\u3066\u3044\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6_Symptoms\"><\/span>\u75c7\u72b6 | Symptoms<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306e\u75c7\u72b6\u306f\u3001\u751f\u307e\u308c\u308b\u524d\u304b\u3089\u59cb\u307e\u308a\u3001\u51fa\u751f\u6642\u306b\u306f\u591a\u304f\u306e\u8eab\u4f53\u7684\u306a\u7279\u5fb4\u3068\u3057\u3066\u73fe\u308c\u308b\u3053\u3068\u304c\u591a\u3044\u3067\u3059\u3002\u305f\u3060\u3057\u3001\u305d\u306e\u73fe\u308c\u65b9\u306b\u306f\u304b\u306a\u308a\u306e\u5e45\u304c\u3042\u308a\u3001\u75c7\u72b6\u304c\u3068\u3066\u3082\u91cd\u304f\u65e9\u671f\u306b\u547d\u3092\u843d\u3068\u3059\u5834\u5408\u3082\u3042\u308c\u3070\u3001\u6bd4\u8f03\u7684\u8efd\u304f\u3001\u5927\u4eba\u306b\u306a\u308b\u307e\u3067\u751f\u304d\u308b\u65b9\u3082\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u4ee5\u4e0b\u306b\u3001\u81d3\u5668\u3084\u8eab\u4f53\u306e\u90e8\u4f4d\u3054\u3068\u306b\u3001\u3088\u304f\u898b\u3089\u308c\u308b\u75c7\u72b6\u3092\u3084\u3055\u3057\u304f\u3054\u7d39\u4ecb\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%88%90%E9%95%B7%EF%BC%88Growth%EF%BC%89\"><\/span>\u6210\u9577\uff08Growth\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u598a\u5a20\u4e2d\u304b\u3089\u80ce\u5150\u306e\u6210\u9577\u304c\u9045\u308c\uff08\u80ce\u5185\u767a\u80b2\u9045\u5ef6\uff09\u3001\u751f\u307e\u308c\u305f\u3068\u304d\u306e\u4f53\u91cd\u3084\u8eab\u9577\u304c\u6a19\u6e96\u3088\u308a\u304b\u306a\u308a\u5c0f\u3055\u3044\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u51fa\u751f\u5f8c\u3082\u6210\u9577\u306e\u30b9\u30d4\u30fc\u30c9\u304c\u9045\u304f\u3001\u5c0f\u67c4\u306a\u4f53\u683c\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%89%8B%E8%B6%B3%EF%BC%88Limbs%EF%BC%89\"><\/span>\u624b\u8db3\uff08Limbs\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3053\u306e\u75be\u60a3\u3067\u6700\u3082\u3088\u304f\u77e5\u3089\u308c\u308b\u7279\u5fb4\u306e\u4e00\u3064\u304c\u3001\u4e21\u624b\u4e21\u8db3\u306e\u5de6\u53f3\u5bfe\u79f0\u306a\u77ed\u7e2e\u3084\u6b20\u640d\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3068\u304f\u306b\u8155\u3084\u811a\u306e\u4e2d\u592e\u90e8\u5206\uff08\u300c\u4e2d\u7bc0\u9aa8\u300d\uff09\u304c\u77ed\u304f\u306a\u308b\u300c\u30e1\u30bd\u30e1\u30ea\u30a2\u578b\u77ed\u7e2e\u300d<\/li>\n\n\n\n<li>\u624b\u3084\u8db3\u304c\u6975\u7aef\u306b\u77ed\u304f\u306a\u308b\u3001\u3042\u308b\u3044\u306f\u307b\u3068\u3093\u3069\u5b58\u5728\u3057\u306a\u3044\u300c\u30c6\u30c8\u30e9\u30d5\u30a9\u30b3\u30e1\u30ea\u30a2\uff08\u56db\u80a2\u6b20\u640d\uff09\u300d<\/li>\n\n\n\n<li>\u89aa\u6307\u304c\u5c0f\u3055\u3044\u307e\u305f\u306f\u6b20\u640d\u3057\u3066\u3044\u308b\uff08\u6bcd\u6307\u4f4e\u5f62\u6210\uff0f\u7121\u5f62\u6210\uff09<\/li>\n\n\n\n<li>\u6307\u306e\u6570\u304c\u5c11\u306a\u3044\uff08\u4e4f\u6307\u75c7\uff09<\/li>\n\n\n\n<li>\u5c0f\u6307\u304c\u5185\u5074\u306b\u66f2\u304c\u308b\uff08\u5c0f\u6307\u306e\u6e7e\u66f2\uff1a\u30af\u30ea\u30ce\u30c0\u30af\u30c1\u30ea\u30fc\uff09<\/li>\n\n\n\n<li>\u95a2\u7bc0\u304c\u304b\u305f\u304f\u3001\u8098\u30fb\u819d\u30fb\u624b\u9996\u30fb\u8db3\u9996\u304c\u307e\u304c\u308a\u306b\u304f\u3044\uff08\u95a2\u7bc0\u62d8\u7e2e\uff09<\/li>\n\n\n\n<li>\u8db3\u304c\u5185\u5074\u306b\u66f2\u304c\u3063\u305f\u72b6\u614b\uff08\u5185\u53cd\u8db3\uff1a\u30bf\u30ea\u30da\u30b9\u30fb\u30a8\u30af\u30a4\u30ce\u30d0\u30eb\u30b0\u30b9\uff09<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E9%A1%94%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88Craniofacial%EF%BC%89\"><\/span>\u9854\u306e\u7279\u5fb4\uff08Craniofacial\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u3067\u306f\u3001\u304a\u9854\u306e\u5f62\u6210\u306b\u3082\u3044\u304f\u3064\u304b\u306e\u7279\u5fb4\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5507\u3084\u53e3\u306e\u5929\u4e95\u306b\u88c2\u3051\u76ee\u304c\u3067\u304d\u308b\u300c\u53e3\u5507\u53e3\u84cb\u88c2\uff08\u3053\u3046\u3057\u3093\u3053\u3046\u304c\u3044\u308c\u3064\uff09\u300d\u304c\u4e21\u5074\u306b\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3088\u304f\u3042\u308a\u307e\u3059<\/li>\n\n\n\n<li>\u982d\u306e\u5927\u304d\u3055\u304c\u5c0f\u3055\u3044\u300c\u5c0f\u982d\u75c7\uff08\u3057\u3087\u3046\u3068\u3046\u3057\u3087\u3046\uff09\u300d\u3084\u3001\u3042\u3054\u304c\u5c0f\u3055\u304f\u5f8c\u9000\u3057\u3066\u898b\u3048\u308b\u300c\u5c0f\u984e\u75c7\uff08\u3057\u3087\u3046\u304c\u304f\u3057\u3087\u3046\uff09\u300d<\/li>\n\n\n\n<li>\u982c\u9aa8\u306e\u3042\u305f\u308a\u304c\u5e73\u5766\u306b\u898b\u3048\u308b\uff08\u982c\u9aa8\u306e\u4f4e\u5f62\u6210\uff09<\/li>\n\n\n\n<li>\u9f3b\u304c\u5c16\u3063\u3066\u898b\u3048\u308b\uff08\u304f\u3061\u3070\u3057\u306e\u3088\u3046\u306a\u9f3b\uff09\u3084\u3001\u5c0f\u9f3b\uff08\u30a2\u30e9\uff09\u304c\u767a\u9054\u3057\u306a\u3044<\/li>\n\n\n\n<li>\u76ee\u306e\u5916\u5074\u306e\u89d2\u304c\u4e0b\u5411\u304d\u306b\u306a\u3063\u3066\u3044\u308b\uff08\u5916\u773c\u89d2\u4e0b\u5782\uff09<\/li>\n\n\n\n<li>\u4e21\u76ee\u306e\u9593\u9694\u304c\u5e83\u3044\uff08\u773c\u9593\u9694\u958b\u5927\uff09\u3084\u3001\u773c\u7403\u304c\u5916\u306b\u51fa\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u308b\uff08\u773c\u7403\u7a81\u51fa\uff09<\/li>\n\n\n\n<li>\u8033\u304c\u5c0f\u3055\u3044\u3001\u4f4e\u3044\u4f4d\u7f6e\u306b\u3064\u3044\u3066\u3044\u308b\u3001\u307e\u305f\u306f\u5f8c\u308d\u306b\u56de\u3063\u3066\u3044\u308b\u3088\u3046\u306b\u898b\u3048\u308b\u306a\u3069\u306e\u300c\u8033\u4ecb\u306e\u5f62\u614b\u7570\u5e38\u300d\u3082\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u7279\u5fb4\u306f\u3001\u500b\u4eba\u306b\u3088\u3063\u3066\u7a0b\u5ea6\u304c\u7570\u306a\u308a\u3001\u3059\u3079\u3066\u306e\u60a3\u8005\u3055\u3093\u306b\u898b\u3089\u308c\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%84%B3%E3%83%BB%E7%A5%9E%E7%B5%8C%E7%B3%BB%EF%BC%88Neurological%EF%BC%89\"><\/span>\u8133\u30fb\u795e\u7d4c\u7cfb\uff08Neurological\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u795e\u7d4c\u3084\u8133\u306e\u767a\u9054\u306b\u3082\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u75c7\u72b6\u306e\u6709\u7121\u3084\u91cd\u3055\u306b\u306f\u304b\u306a\u308a\u306e\u500b\u4eba\u5dee\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u77e5\u7684\u767a\u9054\u306e\u9045\u308c\uff08<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/why-premium-plan\/\">\u77e5\u7684\u969c\u5bb3<\/a>\uff09\u306f\u8efd\u5ea6\u304b\u3089\u91cd\u5ea6\u307e\u3067\u5e45\u304c\u3042\u308a\u3001\u306a\u304b\u306b\u306f\u77e5\u7684\u306b\u6b63\u5e38\u306a\u65b9\u3082\u3044\u307e\u3059<\/li>\n\n\n\n<li>\u8133\u306e\u4e2d\u306b\u6c34\u304c\u305f\u307e\u308b\u300c\u6c34\u982d\u75c7\u300d\u3084\u3001\u982d\u306e\u524d\u65b9\u306b\u8133\u304c\u306f\u307f\u51fa\u308b\u300c\u524d\u982d\u84cb\u8133\u7624\uff08\u305c\u3093\u3068\u3046\u304c\u3044\u306e\u3046\u308a\u3085\u3046\uff09\u300d\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n\n\n\n<li>\u307e\u308c\u306b\u3001\u300c\u8133\u795e\u7d4c\u9ebb\u75fa\uff08\u305f\u3068\u3048\u3070\u7b2c3\u8133\u795e\u7d4c\u9ebb\u75fa\uff09\u300d\u3084\u8133\u306e\u8840\u7ba1\u304c\u72ed\u304f\u306a\u308b\u30e2\u30e4\u30e2\u30e4\u75c5\uff08moyamoya disease\uff09\u306b\u3088\u308b\u8133\u6897\u585e\u3092\u601d\u6625\u671f\u306b\u767a\u75c7\u3057\u305f\u4f8b\u3082\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u308c\u3089\u306e\u795e\u7d4c\u75c7\u72b6\u306f\u3001\u767a\u9054\u306e\u8a55\u4fa1\u3084\u8133\u306e\u753b\u50cf\u691c\u67fb\u306a\u3069\u306b\u3088\u308a\u3001\u9069\u5207\u306b\u78ba\u8a8d\u3055\u308c\u308b\u3053\u3068\u304c\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%84%9F%E8%A6%9A%E5%99%A8%E3%83%BB%E7%9B%AE%E3%83%BB%E8%80%B3%EF%BC%88Sensory%EF%BC%89\"><\/span>\u611f\u899a\u5668\u30fb\u76ee\u30fb\u8033\uff08Sensory\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u76ee\u3084\u8033\u306b\u95a2\u3059\u308b\u554f\u984c\u3082\u3001\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u3067\u306f\u6bd4\u8f03\u7684\u3088\u304f\u898b\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9ed2\u76ee\u304c\u767d\u304f\u6fc1\u3063\u3066\u3057\u307e\u3046\u300c\u89d2\u819c\u6df7\u6fc1\uff08\u304b\u304f\u307e\u304f\u3053\u3093\u3060\u304f\uff09\u300d<\/li>\n\n\n\n<li>\u76ee\u306e\u5927\u304d\u3055\u304c\u5c0f\u3055\u3044\u300c\u5c0f\u773c\u7403\u75c7\uff08\u3057\u3087\u3046\u304c\u3093\u304d\u3085\u3046\u3057\u3087\u3046\uff09\u300d<\/li>\n\n\n\n<li>\u751f\u307e\u308c\u3064\u304d\u306e\u767d\u5185\u969c\uff08\u5148\u5929\u6027\u767d\u5185\u969c\uff09\u3084\u3001\u307e\u3076\u305f\u306e\u4e00\u90e8\u306b\u7a74\u304c\u3042\u308b\u300c\u773c\u77bc\u88c2\uff08\u304c\u3093\u3051\u3093\u308c\u3064\uff09\u300d<\/li>\n\n\n\n<li>\u8996\u529b\u3078\u306e\u5f71\u97ff\u306b\u52a0\u3048\u3066\u3001\u300c\u96e3\u8074\uff08\u306a\u3093\u3061\u3087\u3046\uff09\u300d\u3082\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u65e9\u671f\u306e\u8074\u529b\u691c\u67fb\u304c\u91cd\u8981\u3067\u3059<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u76ee\u3068\u8033\u306e\u72b6\u614b\u306b\u3088\u3063\u3066\u3001\u751f\u6d3b\u3084\u767a\u9054\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u306e\u3067\u3001\u773c\u79d1\u3084\u8033\u9f3b\u79d1\u306e\u5c02\u9580\u533b\u3068\u306e\u9023\u643a\u304c\u5927\u5207\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%BF%83%E8%87%93%EF%BC%88Cardiac%EF%BC%89\"><\/span>\u5fc3\u81d3\uff08Cardiac\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u5fc3\u81d3\u306b\u3082\u5148\u5929\u7684\u306a\u7570\u5e38\u304c\u307f\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\uff08\u3057\u3093\u3057\u3064\u3061\u3085\u3046\u304b\u304f\u3051\u3063\u305d\u3093\uff1aVSD\uff09<\/li>\n\n\n\n<li>\u5fc3\u623f\u4e2d\u9694\u6b20\u640d\uff08\u3057\u3093\u307c\u3046\u3061\u3085\u3046\u304b\u304f\u3051\u3063\u305d\u3093\uff1aASD\uff09<\/li>\n\n\n\n<li>\u52d5\u8108\u7ba1\u958b\u5b58\uff08\u3069\u3046\u307f\u3083\u304f\u304b\u3093\u304b\u3044\u305e\u3093\uff1aPDA\uff09<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3044\u305a\u308c\u3082\u3001\u751f\u307e\u308c\u3064\u304d\u5fc3\u81d3\u306b\u5c0f\u3055\u306a\u7a74\u304c\u7a7a\u3044\u3066\u3044\u308b\u72b6\u614b\u3067\u3042\u308a\u3001\u91cd\u75c7\u5ea6\u306b\u3088\u3063\u3066\u306f\u624b\u8853\u3084\u5b9a\u671f\u7684\u306a\u5fc3\u81d3\u306e\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7\u304c\u5fc5\u8981\u3068\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B3%8C%E5%B0%BF%E3%83%BB%E7%94%9F%E6%AE%96%E5%99%A8%EF%BC%88Genitourinary%EF%BC%89\"><\/span>\u6ccc\u5c3f\u30fb\u751f\u6b96\u5668\uff08Genitourinary\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u814e\u81d3\u3084\u6ccc\u5c3f\u751f\u6b96\u5668\u306b\u3082\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u7570\u5e38\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u814e\u81d3\u304c\u5de6\u53f3\u3064\u306a\u304c\u3063\u3066\u3057\u307e\u3046\u300c\u99ac\u8e44\u814e\uff08\u3070\u3066\u3044\u3058\u3093\uff09\u300d\u3084\u3001\u306e\u3046\u80de\u304c\u305f\u304f\u3055\u3093\u3067\u304d\u308b\u300c\u591a\u306e\u3046\u80de\u814e\uff08\u305f\u306e\u3046\u307b\u3046\u3058\u3093\uff09\u300d<\/li>\n\n\n\n<li>\u7537\u306e\u5b50\u3067\u306f\u3001\u7cbe\u5de3\u304c\u9670\u56a2\u306b\u964d\u308a\u3066\u3053\u306a\u3044\u300c\u505c\u7559\u7cbe\u5de3\uff08\u3066\u3044\u308a\u3085\u3046\u305b\u3044\u305d\u3046\uff09\u300d\u3084\u300c\u5c3f\u9053\u4e0b\u88c2\uff08\u306b\u3087\u3046\u3069\u3046\u304b\u308c\u3064\uff09\u300d<\/li>\n\n\n\n<li>\u5973\u306e\u5b50\u3067\u306f\u3001\u30af\u30ea\u30c8\u30ea\u30b9\u306e\u80a5\u5927\u3084\u5b50\u5bae\u306e\u5f62\u614b\u7570\u5e38\uff08\u53cc\u89d2\u5b50\u5bae\u306a\u3069\uff09\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u51fa\u751f\u76f4\u5f8c\u306b\u306f\u6c17\u3065\u304b\u308c\u306b\u304f\u3044\u3053\u3068\u3082\u3042\u308a\u3001\u5c0f\u5150\u6ccc\u5c3f\u5668\u79d1\u306a\u3069\u306e\u8a3a\u5bdf\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%9A%AE%E8%86%9A%E3%82%84%E3%81%9D%E3%81%AE%E4%BB%96%E3%81%AE%E7%89%B9%E5%BE%B4%EF%BC%88Skin_and_Other_Findings%EF%BC%89\"><\/span>\u76ae\u819a\u3084\u305d\u306e\u4ed6\u306e\u7279\u5fb4\uff08Skin and Other Findings\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306e\u4e00\u90e8\u306e\u65b9\u306b\u306f\u3001\u76ae\u819a\u306b\u3082\u7279\u5fb4\u7684\u306a\u6240\u898b\u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u9aea\u306e\u6bdb\u304c\u307e\u3070\u3089\u3067\u3001\u8272\u304c\u975e\u5e38\u306b\u8584\u3044\uff08\u8584\u6bdb\u30fb\u9280\u767d\u8272\u306e\u9aea\uff09<\/li>\n\n\n\n<li>\u9854\u306b\u8d64\u3042\u3056\u306e\u3088\u3046\u306a\u300c\u6bdb\u7d30\u8840\u7ba1\u816b\uff08hemangioma\uff09\u300d\u304c\u3067\u304d\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u8336\u8272\u306e\u3042\u3056\uff08\u30ab\u30d5\u30a7\u30aa\u30ec\u6591\uff09\u3084\u3001\u76ae\u819a\u306e\u4e00\u90e8\u304c\u767d\u3063\u307d\u304f\u629c\u3051\u308b\u300c\u4f4e\u8272\u7d20\u6027\u306e\u6591\u70b9\uff08\u76ae\u819a\u306e\u8272\u3080\u3089\uff09\u300d\u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002<br>\u3000\u2192 \u3053\u306e\u3088\u3046\u306a\u8272\u3080\u3089\u306f\u3001\u76ae\u819a\u306e\u4e00\u90e8\u306e\u7d30\u80de\u306b\u67d3\u8272\u4f53\u306e\u6570\u306e\u7570\u5e38\uff08\u4f53\u7d30\u80de\u6027\u306e\u7570\u6570\u6027\uff09\u304c\u3042\u308b\u5834\u5408\u306b\u8d77\u3053\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059<\/p>\n\n\n\n    <a href=\"\/nipt\/wolf-hirschhorn_syndrome\/\" class=\"blog-card\">\n      <div class=\"blog-card-content\">\n          <div class=\"blog-card-title\">Wolf-Hirschhorn\u75c7\u5019\u7fa4\uff08\u30a6\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4\uff09\u3068\u306f\u2014\u539f\u56e0\u3001\u75c7\u72b6\u3001\u6cbb\u7642\u3001\u4e88\u5f8c\u3001\u305d\u3057\u3066\u5bb6\u65cf\u3078\u306e\u5f71\u97ff <\/div>\n          <div class=\"blog-card-excerpt\">\u30a6\u30eb\u30d5\u30fb\u30d2\u30eb\u30b7\u30e5\u30db\u30fc\u30f3\u75c7\u5019\u7fa4\uff08WHS\uff09\u306f\u30014\u756a\u67d3\u8272\u4f53\u306e\u6b20\u5931\u306b\u3088\u3063\u3066\u5f15\u304d\u8d77\u3053\u3055\u308c\u308b\u7a00\u306a\u907a\u4f1d\u6027\u75be\u60a3\u3067\u3059\u3002\u672c\u8a18\u4e8b\u3067\u306f\u3001\u7279\u5fb4\u7684\u306a\u75c7\u72b6\u3001\u8a3a\u65ad\u65b9\u6cd5\u3001\u7ba1\u7406...<\/div>\n      <\/div>\n    <\/a>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%A4%9C%E6%9F%BB%E3%83%BB%E8%A8%BA%E6%96%AD_Testing_Diagnosis\"><\/span>\u691c\u67fb\u30fb\u8a3a\u65ad | Testing &amp; Diagnosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306e\u78ba\u5b9a\u8a3a\u65ad\u306b\u306f\u3001\u907a\u4f1d\u5b50\u30ec\u30d9\u30eb\u3067\u306e\u691c\u67fb\u3068\u3001\u67d3\u8272\u4f53\u306e\u5f62\u3092\u898b\u308b\u9855\u5fae\u93e1\u691c\u67fb\u306e\u4e21\u65b9\u304c\u5927\u5207\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%88%86%E5%AD%90%E9%81%BA%E4%BC%9D%E5%AD%A6%E7%9A%84%E6%A4%9C%E6%9F%BB%EF%BC%88Molecular_Genetic_Testing%EF%BC%89\"><\/span>\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08Molecular Genetic Testing\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u307e\u305a\u4e2d\u5fc3\u3068\u306a\u308b\u306e\u306f\u3001ESCO2\u907a\u4f1d\u5b50\u306b\u75c5\u7684\u306a\u5909\u7570\u304c\u3042\u308b\u304b\u3069\u3046\u304b\u3092\u8abf\u3079\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u3059\u3002\u3053\u308c\u306b\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u65b9\u6cd5\u304c\u3042\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u30b5\u30f3\u30ac\u30fc\u6cd5\u306b\u3088\u308b\u907a\u4f1d\u5b50\u914d\u5217\u89e3\u6790\u3084\u3001\u3088\u308a\u5e83\u3044\u7bc4\u56f2\u3092\u8abf\u3079\u308b\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08exome sequencing\uff09\u304c\u4f7f\u308f\u308c\u307e\u3059<\/li>\n\n\n\n<li>\u307e\u308c\u306b\u3001\u5927\u304d\u306a\u6b20\u5931\u3092\u8abf\u3079\u308b\u30b3\u30d4\u30fc\u6570\u5909\u7570\u89e3\u6790\uff08deletion\/duplication analysis\uff09\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u304c\u3001\u5831\u544a\u4f8b\u306f\u5c11\u6570\u3067\u3059<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u907a\u4f1d\u5b50\u914d\u5217\u89e3\u6790\u3067\u306f\u3001\u3053\u308c\u307e\u3067\u306b\u77e5\u3089\u308c\u3066\u3044\u308b\u75c5\u7684\u306a\u5909\u7570\u306e\u307b\u307c\u3059\u3079\u3066\u3092\u691c\u51fa\u3059\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%9F%93%E8%89%B2%E4%BD%93%E6%A4%9C%E6%9F%BB%EF%BC%88Cytogenetic_Analysis%EF%BC%89\"><\/span>\u67d3\u8272\u4f53\u691c\u67fb\uff08Cytogenetic Analysis\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u6b21\u306b\u91cd\u8981\u306a\u306e\u304c\u3001\u300cRS\u52b9\u679c\uff08RS effect\uff09\u300d\u3068\u547c\u3070\u308c\u308b\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306b\u7279\u6709\u306e\u67d3\u8272\u4f53\u306e\u7570\u5e38\u3092\u9855\u5fae\u93e1\u3067\u78ba\u8a8d\u3059\u308b\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u3053\u306e\u7570\u5e38\u306f\u3001\u8840\u6db2\u3084\u76ae\u819a\u306e\u7d30\u80de\u3092\u57f9\u990a\u3057\u3066\u3001\u5206\u88c2\u4e2d\u306e\u67d3\u8272\u4f53\uff08\u30e1\u30bf\u30d5\u30a7\u30fc\u30ba\uff09\u3092\u89b3\u5bdf\u3059\u308b\u3053\u3068\u3067\u691c\u51fa\u3055\u308c\u307e\u3059<\/li>\n\n\n\n<li>\u7279\u5fb4\u7684\u306a\u6240\u898b\u306b\u306f\u4ee5\u4e0b\u306e2\u3064\u304c\u3042\u308a\u307e\u3059\uff1a<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>1. \u65e9\u671f\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u5206\u96e2\uff08PCS: premature centromere separation\uff09<br>2. \u30d8\u30c6\u30ed\u30af\u30ed\u30de\u30c1\u30f3\u53cd\u767a\uff08HR: heterochromatin repulsion\uff09<\/p>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u308c\u3089\u306f\u3001\u7279\u306b1\u756a\u30019\u756a\u300116\u756a\u3001Y\u67d3\u8272\u4f53\u306a\u3069\u30d8\u30c6\u30ed\u30af\u30ed\u30de\u30c1\u30f3\u306e\u591a\u3044\u67d3\u8272\u4f53\u3067\u3088\u304f\u89b3\u5bdf\u3055\u308c\u3001\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306b\u306e\u307f\u898b\u3089\u308c\u308b\u975e\u5e38\u306b\u7279\u7570\u7684\u306a\u30b5\u30a4\u30f3\u3067\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E5%87%BA%E7%94%9F%E5%89%8D%E8%A8%BA%E6%96%AD%EF%BC%88Prenatal_Testing%EF%BC%89\"><\/span>\u51fa\u751f\u524d\u8a3a\u65ad\uff08Prenatal Testing\uff09<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u598a\u5a20\u4e2d\u306b\u884c\u3046\u80ce\u5150\u30c9\u30c3\u30af\uff08\u8d85\u97f3\u6ce2\u691c\u67fb\uff09\u3067\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u6240\u898b\u304c\u3042\u308c\u3070\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u304c\u7591\u308f\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u624b\u8db3\u306e\u91cd\u5ea6\u306a\u77ed\u7e2e\uff08\u56db\u80a2\u6b20\u640d\uff09<\/li>\n\n\n\n<li>\u53e3\u5507\u53e3\u84cb\u88c2<\/li>\n\n\n\n<li>\u8457\u3057\u3044\u80ce\u5150\u767a\u80b2\u9045\u5ef6<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306a\u6240\u898b\u304c\u898b\u3089\u308c\u305f\u5834\u5408\u3001<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>\u306b\u3088\u308b\u907a\u4f1d\u5b50\u691c\u67fb\u3067\u78ba\u5b9a\u8a3a\u65ad\u3092\u884c\u3046\u3053\u3068\u304c\u53ef\u80fd\u3067\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E6%B2%BB%E7%99%82%E6%B3%95%E3%81%A8%E7%AE%A1%E7%90%86_Treatment_Management\"><\/span>\u6cbb\u7642\u6cd5\u3068\u7ba1\u7406 | Treatment &amp; Management<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u6b8b\u5ff5\u306a\u304c\u3089\u3001\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306b\u5bfe\u3057\u3066\u6839\u672c\u7684\u306a\u6cbb\u7642\u6cd5\uff08\u5b8c\u6cbb\u3055\u305b\u308b\u65b9\u6cd5\uff09\u306f\u5b58\u5728\u3057\u3066\u3044\u307e\u305b\u3093\u3002\u305d\u306e\u305f\u3081\u3001\u75c7\u72b6\u306b\u5408\u308f\u305b\u305f\u5bfe\u75c7\u7642\u6cd5\u3068\u3001\u591a\u8077\u7a2e\u306b\u3088\u308b\u7d99\u7d9a\u7684\u306a\u652f\u63f4\u304c\u4e2d\u5fc3\u3068\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u60a3\u8005\u3055\u3093\u4e00\u4eba\u3072\u3068\u308a\u306e\u75c7\u72b6\u3084\u751f\u6d3b\u74b0\u5883\u306b\u5408\u308f\u305b\u305f\u30aa\u30fc\u30c0\u30fc\u30e1\u30a4\u30c9\u306e\u30b1\u30a2\u8a08\u753b\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u5177\u4f53\u7684\u306b\u306f\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u30b5\u30dd\u30fc\u30c8\u304c\u884c\u308f\u308c\u307e\u3059\uff1a<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u53e3\u5507\u53e3\u84cb\u88c2\u3084\u9aa8\u683c\u7570\u5e38\u306b\u5bfe\u3059\u308b\u624b\u8853\uff08\u5f62\u6210\u5916\u79d1\u30fb\u6574\u5f62\u5916\u79d1\u306b\u3088\u308b\uff09<\/li>\n\n\n\n<li>\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\u306b\u3088\u308b\u767a\u9054\u652f\u63f4<\/li>\n\n\n\n<li>\u8996\u899a\u3084\u8074\u899a\u306b\u5bfe\u3059\u308b\u652f\u63f4\uff08\u773c\u79d1\u30fb\u8033\u9f3b\u79d1\uff09<\/li>\n\n\n\n<li>\u5fc3\u81d3\u3084\u814e\u81d3\u306e\u5b9a\u671f\u7684\u306a\u30e2\u30cb\u30bf\u30ea\u30f3\u30b0\u3068\u30d5\u30a9\u30ed\u30fc\u30a2\u30c3\u30d7<\/li>\n\n\n\n<li>\u611f\u67d3\u75c7\u4e88\u9632\u5bfe\u7b56\uff08\u7279\u306b\u65b0\u751f\u5150\u671f\u306e\u9854\u9762\u5947\u5f62\u306b\u3088\u308b\u30ea\u30b9\u30af\u3092\u8003\u616e\uff09<\/li>\n\n\n\n<li>\u3054\u5bb6\u65cf\u3078\u306e\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<br>\u3000\u2192 \u6b21\u306e\u598a\u5a20\u306b\u5099\u3048\u3066\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u7740\u5e8a\u524d\u8a3a\u65ad\uff08PGT-M\uff09\u306e\u76f8\u8ac7\u3082\u542b\u307e\u308c\u307e\u3059<\/li>\n<\/ul>\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=\"%E4%BA%88%E5%BE%8C_Prognosis\"><\/span>\u4e88\u5f8c | Prognosis<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306e\u4e88\u5f8c\u306f\u3001\u305d\u306e\u65b9\u306e\u75c7\u72b6\u306e\u91cd\u3055\u3084\u3001\u95a2\u4fc2\u3059\u308b\u81d3\u5668\u306e\u72b6\u614b\u3001\u305d\u3057\u3066\u53d7\u3051\u3089\u308c\u308b\u533b\u7642\u3084\u652f\u63f4\u4f53\u5236\u306b\u3088\u3063\u3066\u5927\u304d\u304f\u5e45\u304c\u3042\u308a\u307e\u3059\u3002\u3072\u3068\u308a\u3072\u3068\u308a\u7570\u306a\u308b\u7d4c\u904e\u3092\u305f\u3069\u308b\u305f\u3081\u3001\u4e00\u6982\u306b\u300c\u3053\u3046\u306a\u308b\u300d\u3068\u8a00\u3044\u5207\u308b\u3053\u3068\u306f\u3067\u304d\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u73fe\u5728\u307e\u3067\u306e\u533b\u5b66\u7684\u306a\u77e5\u898b\u3092\u3082\u3068\u306b\u3001\u3044\u304f\u3064\u304b\u306e\u30d1\u30bf\u30fc\u30f3\u3092\u3054\u7d39\u4ecb\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6%E3%81%8C%E9%87%8D%E3%81%84%E5%A0%B4%E5%90%88\"><\/span>\u75c7\u72b6\u304c\u91cd\u3044\u5834\u5408<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u3054\u304f\u4e00\u90e8\u306e\u65b9\u3067\u306f\u3001ESCO2\u907a\u4f1d\u5b50\u306e\u50cd\u304d\u304c\u5b8c\u5168\u306b\u5931\u308f\u308c\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u308b\u5834\u5408\u306b\u3001\u975e\u5e38\u306b\u65e9\u3044\u6642\u671f\u304b\u3089\u591a\u304f\u306e\u81d3\u5668\u306b\u5927\u304d\u306a\u5f71\u97ff\u304c\u53ca\u3076\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306a\u30b1\u30fc\u30b9\u3067\u306f\u3001\u598a\u5a20\u4e2d\u304b\u3089\u8d64\u3061\u3083\u3093\u306e\u767a\u80b2\u304c\u8457\u3057\u304f\u5236\u9650\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u51fa\u751f\u5f8c\u3059\u3050\u306b\u96c6\u4e2d\u6cbb\u7642\u304c\u5fc5\u8981\u306b\u306a\u308b\u3053\u3068\u3082\u3042\u308a\u307e\u3059\u3002\u306a\u304b\u306b\u306f\u3001\u751f\u5f8c\u307e\u3082\u306a\u304f\u304a\u5225\u308c\u3092\u8fce\u3048\u308b\u3053\u3068\u306b\u306a\u3063\u305f\u3054\u5bb6\u65cf\u3082\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306a\u304a\u8a71\u3092\u3059\u308b\u3053\u3068\u81ea\u4f53\u304c\u3001\u305f\u3044\u3078\u3093\u5fc3\u82e6\u3057\u3044\u3053\u3068\u3067\u3059\u304c\u3001\u5c11\u3057\u3067\u3082\u3054\u5bb6\u65cf\u306e\u9078\u629e\u3084\u5099\u3048\u306b\u5f79\u7acb\u3066\u3066\u3044\u305f\u3060\u304f\u305f\u3081\u3001\u533b\u7642\u30c1\u30fc\u30e0\u306f\u4e01\u5be7\u306b\u3054\u8aac\u660e\u3092\u5dee\u3057\u4e0a\u3052\u307e\u3059\u3002\u5e0c\u671b\u3084\u601d\u3044\u3092\u3069\u3046\u304b\u9060\u616e\u306a\u304f\u5171\u6709\u3057\u3066\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h3 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E7%97%87%E7%8A%B6%E3%81%8C%E8%BB%BD%E5%BA%A6%E3%80%9C%E4%B8%AD%E7%AD%89%E5%BA%A6%E3%81%AE%E5%A0%B4%E5%90%88\"><\/span>\u75c7\u72b6\u304c\u8efd\u5ea6\u301c\u4e2d\u7b49\u5ea6\u306e\u5834\u5408<span class=\"ez-toc-section-end\"><\/span><\/h3>\n\n\n\n<p>\u4e00\u65b9\u3067\u3001ESCO2\u306e\u6a5f\u80fd\u304c\u90e8\u5206\u7684\u306b\u6b8b\u3063\u3066\u3044\u308b\u30b1\u30fc\u30b9\u3067\u306f\u3001\u75c7\u72b6\u306e\u7a0b\u5ea6\u304c\u6291\u3048\u3089\u308c\u3001\u533b\u7642\u3068\u30ea\u30cf\u30d3\u30ea\u3092\u53d7\u3051\u306a\u304c\u3089\u6210\u9577\u3055\u308c\u3066\u3044\u308b\u65b9\u3082\u3044\u3089\u3063\u3057\u3083\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u624b\u8db3\u306e\u77ed\u7e2e\u306a\u3069\u306e\u8eab\u4f53\u7684\u7279\u5fb4\u304c\u3042\u3063\u3066\u3082\u3001\u3054\u5bb6\u65cf\u3084\u652f\u63f4\u30c1\u30fc\u30e0\u3068\u3068\u3082\u306b\u65e5\u5e38\u751f\u6d3b\u3092\u9001\u308b\u3053\u3068\u304c\u3067\u304d\u308b\u65b9\u3082\u3044\u307e\u3059\u3002\u307e\u305f\u3001\u77e5\u7684\u306a\u767a\u9054\u304c\u826f\u597d\u3067\u3001\u304a\u8a71\u3092\u3057\u305f\u308a\u3001\u901a\u5b66\u3057\u305f\u308a\u3001\u5c06\u6765\u7684\u306b\u306f\u81ea\u7acb\u3057\u305f\u751f\u6d3b\u3092\u76ee\u6307\u3059\u65b9\u3082\u304a\u3089\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A3%9C%E8%B6%B3%EF%BC%9A%E9%91%91%E5%88%A5%E8%A8%BA%E6%96%AD%E3%81%A8%E9%81%BA%E4%BC%9D%E5%AD%90%E6%A4%9C%E5%87%BA%E6%99%82%E3%81%AE%E6%B3%A8%E6%84%8F%EF%BD%9CNote_on_Differential_Diagnosis_and_Genetic_Interpretation\"><\/span>\u88dc\u8db3\uff1a\u9451\u5225\u8a3a\u65ad\u3068\u907a\u4f1d\u5b50\u691c\u51fa\u6642\u306e\u6ce8\u610f\uff5cNote on Differential Diagnosis and Genetic Interpretation<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u8fd1\u5e74\u3067\u306f\u3001<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\u3084\u4e0d\u598a\u6cbb\u7642\u3001\u307e\u305f\u306f\u62e1\u5927\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\u306a\u3069\u306e\u5834\u9762\u3067\u3001\u305f\u307e\u305f\u307eESCO2\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u3042\u308b\u3053\u3068\u304c\u898b\u3064\u304b\u308b\u30b1\u30fc\u30b9\u3082\u5897\u3048\u3066\u304d\u307e\u3057\u305f\u3002\u3053\u306e\u3088\u3046\u306b\u3001\u75c7\u72b6\u304c\u51fa\u3066\u3044\u306a\u3044\u6bb5\u968e\u3067\u907a\u4f1d\u5b50\u306e\u7570\u5e38\u304c\u6307\u6458\u3055\u308c\u305f\u5834\u5408\u306b\u306f\u3001\u51b7\u9759\u3067\u614e\u91cd\u306a\u5bfe\u5fdc\u304c\u3068\u3066\u3082\u5927\u5207\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305a\u5927\u524d\u63d0\u3068\u3057\u3066\u3001<\/p>\n\n\n\n<p>\u3059\u3079\u3066\u306eESCO2\u907a\u4f1d\u5b50\u5909\u7570\u304c\u3001\u5fc5\u305a\u3057\u3082\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u3092\u5f15\u304d\u8d77\u3053\u3059\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u907a\u4f1d\u5b50\u306b\u5909\u7570\u304c\u898b\u3064\u304b\u3063\u305f\u3068\u3057\u3066\u3082\u3001<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u75c7\u72b6\u304c\u307e\u3063\u305f\u304f\u73fe\u308c\u306a\u3044\u8efd\u5ea6\u306e\u30b1\u30fc\u30b9\u304c\u3042\u308b<\/li>\n\n\n\n<li>\u540c\u3058\u5909\u7570\u3067\u3082\u3001\u500b\u4eba\u306b\u3088\u3063\u3066\u75c7\u72b6\u306e\u51fa\u65b9\u304c\u7570\u306a\u308b<\/li>\n\n\n\n<li>\u307e\u308c\u306b\u3001\u30b8\u30e5\u30d0\u30fc\u30b0\uff1d\u30d8\u30a4\u30ef\u30fc\u30c9\u75c7\u5019\u7fa4\uff08Juberg-Hayward syndrome, JHS\uff09\u306e\u3088\u3046\u306a\u3088\u308a\u8efd\u3044\u75c5\u578b\u3067\u3042\u308b\u53ef\u80fd\u6027\u3082\u3042\u308b<\/li>\n<\/ul>\n\n\n\n<div style=\"height:16px\" aria-hidden=\"true\" class=\"wp-block-spacer\"><\/div>\n\n\n\n<p>\u306a\u3069\u306e\u7406\u7531\u304b\u3089\u3001\u305d\u306e\u4eba\u81ea\u8eab\u306b\u3069\u306e\u3088\u3046\u306a\u5f71\u97ff\u304c\u3042\u308b\u306e\u304b\u3092\u3057\u3063\u304b\u308a\u3068\u898b\u6975\u3081\u308b\u3053\u3068\u304c\u5fc5\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f\u3001SC\u30d5\u30a9\u30b3\u30e1\u30ea\u30a2\u75c7\u5019\u7fa4\uff08SC phocomelia\uff09\u306a\u3069\u3001\u904e\u53bb\u306b\u306f\u5225\u306e\u75c5\u540d\u3068\u3057\u3066\u6271\u308f\u308c\u3066\u3044\u305f\u75be\u60a3\u3082\u3001\u73fe\u5728\u3067\u306f\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306e\u30b9\u30da\u30af\u30c8\u30e9\u30e0\uff08\u75c7\u72b6\u306e\u5e45\uff09\u306b\u542b\u307e\u308c\u308b\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u3053\u306e\u3088\u3046\u306b\u3001\u8a3a\u65ad\u3084\u4e88\u5f8c\u3092\u5224\u65ad\u3059\u308b\u306b\u306f\u3001\u5358\u306b\u907a\u4f1d\u5b50\u304c\u5909\u308f\u3063\u3066\u3044\u308b\u3068\u3044\u3046\u60c5\u5831\u3060\u3051\u3067\u306f\u4e0d\u5341\u5206\u3067\u3059\u3002<\/p>\n\n\n\n<p>\u305d\u306e\u305f\u3081\u3001\u907a\u4f1d\u5c02\u9580\u533b\u3084\u81e8\u5e8a\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30e9\u30fc\u306a\u3069\u306e\u5c02\u9580\u5bb6\u306b\u3088\u308b\u8a73\u7d30\u306a\u8a3a\u5bdf\u3068\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u304c\u4e0d\u53ef\u6b20\u3067\u3059\u3002\u4e0d\u5b89\u306a\u5834\u5408\u306b\u306f\u3001\u3054\u5bb6\u65cf\u5168\u4f53\u306e\u907a\u4f1d\u60c5\u5831\u3084\u80cc\u666f\u3082\u3075\u307e\u3048\u305f\u3001\u4e01\u5be7\u306a\u3054\u8aac\u660e\u3068\u30b5\u30dd\u30fc\u30c8\u3092\u53d7\u3051\u308b\u3053\u3068\u3092\u304a\u3059\u3059\u3081\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E8%A3%9C%E8%B6%B3%E3%81%BE%E3%81%A8%E3%82%81%EF%BC%9A%E3%81%94%E5%AE%B6%E6%97%8F%E3%83%BB%E4%BF%9D%E8%AD%B7%E8%80%85%E3%81%AE%E6%96%B9%E3%81%B8\"><\/span>\u88dc\u8db3\u307e\u3068\u3081\uff1a\u3054\u5bb6\u65cf\u30fb\u4fdd\u8b77\u8005\u306e\u65b9\u3078<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306f,\u78ba\u304b\u306b\u591a\u304f\u306e\u56f0\u96e3\u3092\u3068\u3082\u306a\u3046\u307e\u308c\u3064\u304d\u306e\u75c5\u6c17\u3067\u3059\u3002\u3067\u3059\u304c,\u3053\u308c\u307e\u3067\u306b\u308f\u304b\u3063\u3066\u3044\u308b\u3053\u3068\u3082\u5c11\u3057\u305a\u3064\u5897\u3048\u3066\u304d\u3066\u3044\u307e\u3059\u3002\u9069\u5207\u306a\u533b\u7642\u30fb\u30ea\u30cf\u30d3\u30ea\u30fb\u30b5\u30dd\u30fc\u30c8\u3092\u65e9\u671f\u304b\u3089\u53d7\u3051\u308b\u3053\u3068\u3067,\u304a\u5b50\u3055\u3093\u306e\u53ef\u80fd\u6027\u3092\u3067\u304d\u308b\u304b\u304e\u308a\u5f15\u304d\u51fa\u3059\u3053\u3068\u304c\u3067\u304d\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u307e\u305f,\u91cd\u75c7\u306a\u30b1\u30fc\u30b9\u3070\u304b\u308a\u3067\u306f\u306a\u304f,\u6210\u9577\u3057,\u5b66\u6821\u306b\u901a\u3044,\u5bb6\u65cf\u3068\u4e00\u7dd2\u306b\u65e5\u5e38\u751f\u6d3b\u3092\u9001\u3063\u3066\u3044\u308b\u65b9\u3082\u3044\u307e\u3059\u3002\u4e2d\u306b\u306f,\u5927\u4eba\u306b\u306a\u3063\u3066\u304b\u3089\u8a3a\u65ad\u3055\u308c\u308b\u8efd\u75c7\u4f8b\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p>\u75c5\u540d\u304c\u3064\u3044\u305f\u3068\u304d,\u3054\u5bb6\u65cf\u306b\u3068\u3063\u3066\u306f\u5927\u304d\u306a\u885d\u6483\u3084\u4e0d\u5b89\u3092\u611f\u3058\u308b\u3053\u3068\u3082\u3042\u308b\u3068\u601d\u3044\u307e\u3059\u3002\u3067\u3082\u3069\u3046\u304b,\u304a\u4e00\u4eba\u3067\u60a9\u307e\u305a\u306b,\u533b\u7642\u8005\u3084\u652f\u63f4\u30c1\u30fc\u30e0\u3068\u3064\u306a\u304c\u3063\u3066\u3044\u3066\u304f\u3060\u3055\u3044\u3002\u3069\u3093\u306a\u9053\u3067\u3042\u3063\u3066\u3082,\u304a\u5b50\u3055\u3093\u306e\u300c\u3044\u307e\u300d\u3068\u300c\u3053\u308c\u304b\u3089\u300d\u3092\u4e00\u7dd2\u306b\u8003\u3048\u3066\u3044\u304f\u305f\u3081\u306e\u4f34\u8d70\u8005\u306f\u5fc5\u305a\u3044\u307e\u3059\u3002<br>\u5c0f\u3055\u306a\u3053\u3068\u3067\u3082,\u3044\u3064\u3067\u3082\u3054\u76f8\u8ac7\u304f\u3060\u3055\u3044\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%84%E3%81%95%E3%81%97%E3%81%84%E8%A8%80%E8%91%89%E3%81%AE%E8%AA%AC%E6%98%8E%EF%BD%9CHelpful_Terms\"><\/span>\u3084\u3055\u3057\u3044\u8a00\u8449\u306e\u8aac\u660e\uff5cHelpful Terms <span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p><strong>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\uff08Roberts syndrome\uff09\uff08\u308d\u3070\u30fc\u3064\u3057\u3087\u3046\u3053\u3046\u3050\u3093\uff09<\/strong><strong><br><\/strong> \u975e\u5e38\u306b\u307e\u308c\u306a\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3001\u4f53\u306e\u6210\u9577\u3084\u624b\u8db3\u30fb\u9854\u306e\u5f62\u306b\u7279\u5fb4\u304c\u73fe\u308c\u307e\u3059\u3002\u67d3\u8272\u4f53\u304c\u3046\u307e\u304f\u5206\u304b\u308c\u306a\u3044\u3053\u3068\u304c\u539f\u56e0\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5e38\u67d3\u8272\u4f53\u6f5c\u6027\u907a\u4f1d\uff08Autosomal recessive inheritance\uff09\uff08\u3058\u3087\u3046\u305b\u3093\u3057\u3087\u304f\u305f\u3044\u308c\u3063\u305b\u3044\u3044\u3067\u3093\uff09<br><\/strong> \u4e21\u89aa\u304b\u3089\u540c\u3058\u907a\u4f1d\u5b50\u306e\u5909\u5316\u30921\u3064\u305a\u3064\u53d7\u3051\u7d99\u3050\u3053\u3068\u3067\u8d77\u3053\u308b\u907a\u4f1d\u306e\u5f62\u5f0f\u3067\u3059\u3002\u4e21\u89aa\u306b\u306f\u75c7\u72b6\u304c\u51fa\u306a\u3044\u3053\u3068\u304c\u591a\u304f\u3001\u5b50\u306b\u75c7\u72b6\u304c\u73fe\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\u5909\u7570\uff08Gene mutation\uff09\uff08\u3044\u3067\u3093\u3057\u3078\u3093\u3044\uff09<\/strong><strong><br><\/strong> DNA\u306e\u8a2d\u8a08\u56f3\u306e\u4e00\u90e8\u306b\u5909\u5316\u304c\u3042\u308b\u72b6\u614b\u3067\u3059\u3002\u3059\u3079\u3066\u306e\u5909\u7570\u304c\u75c5\u6c17\u306e\u539f\u56e0\u306b\u306a\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002<\/p>\n\n\n\n<p><strong>ESCO2\u907a\u4f1d\u5b50\uff08ESCO2 gene\uff09\uff08\u3048\u3059\u3053\u30fc\u3064\u30fc\u3044\u3067\u3093\u3057\uff09<\/strong><strong><br><\/strong> \u7d30\u80de\u5206\u88c2\u306e\u3068\u304d\u306b\u3001\u67d3\u8272\u4f53\u304c\u6b63\u3057\u304f\u5206\u304b\u308c\u308b\u3088\u3046\u306b\u52a9\u3051\u308b\u5927\u5207\u306a\u907a\u4f1d\u5b50\u3067\u3059\u3002\u3053\u306e\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u3042\u308b\u3068\u3001\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3068\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u67d3\u8272\u4f53\uff08Chromosome\uff09\uff08\u305b\u3093\u3057\u3087\u304f\u305f\u3044\uff09<\/strong><strong><br><\/strong> DNA\u304c\u307e\u3068\u307e\u3063\u3066\u3067\u304d\u305f\u69cb\u9020\u3067\u3001\u4f53\u306e\u60c5\u5831\u3092\u4f1d\u3048\u308b\u50cd\u304d\u3092\u3057\u3066\u3044\u307e\u3059\u3002\u4eba\u306f\u901a\u5e3846\u672c\u306e\u67d3\u8272\u4f53\u3092\u6301\u3063\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u59c9\u59b9\u67d3\u8272\u5206\u4f53\uff08Sister chromatids\uff09\uff08\u3057\u3057\u307e\u3044\u305b\u3093\u3057\u3087\u304f\u3076\u3093\u305f\u3044\uff09<\/strong><strong><br><\/strong> \u7d30\u80de\u5206\u88c2\u306e\u524d\u306b\u3001\u540c\u3058DNA\u304b\u3089\u4f5c\u3089\u308c\u305f2\u3064\u306e\u307b\u307c\u540c\u4e00\u306e\u67d3\u8272\u4f53\u306e\u5bfe\u3067\u3059\u3002\u3053\u308c\u3089\u304c\u304d\u3061\u3093\u3068\u5206\u304b\u308c\u308b\u3053\u3068\u304c\u91cd\u8981\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>RS\u52b9\u679c\uff08RS effect\uff09\uff08\u3042\u30fc\u308b\u3048\u3059\u3053\u3046\u304b\uff09<\/strong><strong><br><\/strong> \u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306b\u7279\u6709\u306e\u3001\u67d3\u8272\u4f53\u306e\u4e2d\u5fc3\u304c\u65e9\u304f\u96e2\u308c\u305f\u308a\u3001\u3075\u304f\u3089\u3093\u3060\u308a\u3059\u308b\u5909\u5316\u3067\u3059\u3002\u9855\u5fae\u93e1\u3067\u89b3\u5bdf\u3055\u308c\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u65e9\u671f\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u5206\u96e2\uff08Premature centromere separation\uff09\uff08\u305d\u3046\u304d\u305b\u3093\u3068\u308d\u3081\u3042\u3076\u3093\u308a\uff09<\/strong><strong><br><\/strong> \u67d3\u8272\u4f53\u306e\u4e2d\u592e\u90e8\u5206\uff08\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\uff09\u304c\u3001\u901a\u5e38\u3088\u308a\u65e9\u3044\u30bf\u30a4\u30df\u30f3\u30b0\u3067\u96e2\u308c\u3066\u3057\u307e\u3046\u73fe\u8c61\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30d8\u30c6\u30ed\u30af\u30ed\u30de\u30c1\u30f3\u53cd\u767a\uff08Heterochromatin repulsion\uff09\uff08\u3078\u3066\u308d\u304f\u308d\u307e\u3061\u3093\u306f\u3093\u3071\u3064\uff09<\/strong><strong><br><\/strong> \u67d3\u8272\u4f53\u306e\u4e00\u90e8\uff08\u6fc3\u304f\u898b\u3048\u308b\u90e8\u5206\uff09\u304c\u5e83\u304c\u3063\u3066\u898b\u3048\u308b\u3088\u3046\u306a\u3001\u7279\u6b8a\u306a\u5909\u5316\u306e\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30b3\u30d2\u30fc\u30b7\u30f3\u8907\u5408\u4f53\uff08Cohesin complex\uff09\uff08\u3053\u3072\u30fc\u3057\u3093\u3075\u304f\u3054\u3046\u305f\u3044\uff09<\/strong><strong><br><\/strong> \u67d3\u8272\u4f53\u3069\u3046\u3057\u3092\u9069\u5207\u306b\u3064\u306a\u304e\u3068\u3081\u308b\u305f\u3093\u3071\u304f\u8cea\u306e\u4ed5\u7d44\u307f\u3067\u3059\u3002\u3053\u306e\u6a5f\u80fd\u304c\u3046\u307e\u304f\u50cd\u304b\u306a\u3044\u3068\u3001\u7d30\u80de\u5206\u88c2\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30b3\u30d2\u30fc\u30b7\u30ce\u30d1\u30c1\u30fc\uff08Cohesinopathy\uff09\uff08\u3053\u3072\u30fc\u3057\u306e\u3071\u3061\u30fc\uff09<\/strong><strong><br><\/strong> \u30b3\u30d2\u30fc\u30b7\u30f3\u8907\u5408\u4f53\u306b\u95a2\u9023\u3059\u308b\u3044\u304f\u3064\u304b\u306e\u75be\u60a3\u306e\u7dcf\u79f0\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30a8\u30af\u30bd\u30fc\u30e0\u89e3\u6790\uff08Exome sequencing\uff09\uff08\u3048\u304f\u305d\u30fc\u3080\u304b\u3044\u305b\u304d\uff09<\/strong><strong><br><\/strong> \u907a\u4f1d\u5b50\u306e\u4e2d\u3067\u3082\u3001\u75c5\u6c17\u306b\u95a2\u308f\u308b\u53ef\u80fd\u6027\u304c\u9ad8\u3044\u90e8\u5206\uff08\u30a8\u30af\u30bd\u30f3\uff09\u3092\u4e2d\u5fc3\u306b\u8abf\u3079\u308b\u691c\u67fb\u65b9\u6cd5\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/\">\u51fa\u751f\u524d\u8a3a\u65ad<\/a>\uff08Prenatal testing\uff09\uff08\u3057\u3085\u3063\u3057\u3087\u3046\u305c\u3093\u3057\u3093\u3060\u3093\uff09<\/strong><strong><br><\/strong> \u598a\u5a20\u4e2d\u306b\u8d64\u3061\u3083\u3093\u306e\u5065\u5eb7\u3084\u907a\u4f1d\u7684\u306a\u5909\u5316\u3092\u8abf\u3079\u308b\u305f\u3081\u306e\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30a2\u30dd\u30c8\u30fc\u30b7\u30b9\uff08Apoptosis\uff09\uff08\u3042\u307d\u3068\u30fc\u3057\u3059\uff09<\/strong><strong><br><\/strong> \u7d30\u80de\u304c\u81ea\u7136\u306b\u5bff\u547d\u3092\u8fce\u3048\u3066\u6d88\u3048\u3066\u3044\u304f\u4ed5\u7d44\u307f\u3067\u3059\u3002\u75c5\u6c17\u3067\u306f\u306a\u304f\u3001\u4f53\u306b\u3068\u3063\u3066\u5927\u5207\u306a\u73fe\u8c61\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u80ce\u5185\u767a\u80b2\u9045\u5ef6\uff08Intrauterine growth restriction, IUGR\uff09\uff08\u305f\u3044\u3046\u3061\u306f\u3064\u3044\u304f\u3061\u3048\u3093\uff09<\/strong><strong><br><\/strong> \u8d64\u3061\u3083\u3093\u304c\u304a\u8179\u306e\u4e2d\u3067\u3086\u3063\u304f\u308a\u80b2\u3064\u3053\u3068\u3067\u3001\u751f\u307e\u308c\u305f\u3068\u304d\u306e\u4f53\u91cd\u3084\u8eab\u9577\u304c\u5c0f\u3055\u304f\u306a\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u56db\u80a2\u6b20\u640d\uff08Tetraphocomelia\uff09\uff08\u3057\u3057\u3051\u3063\u305d\u3093\uff09<\/strong><strong><br><\/strong> \u624b\u3084\u8db3\u304c\u3068\u3066\u3082\u77ed\u304f\u898b\u3048\u305f\u308a\u3001\u4e00\u90e8\u304c\u767a\u9054\u3057\u3066\u3044\u306a\u3044\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30e1\u30bd\u30e1\u30ea\u30a2\u578b\u77ed\u7e2e\uff08Mesomelic shortening\uff09\uff08\u3081\u305d\u3081\u308a\u3042\u304c\u305f\u305f\u3093\u3057\u3085\u304f\uff09<\/strong><strong><br><\/strong> \u8155\u3084\u811a\u306e\u771f\u3093\u4e2d\u306e\u90e8\u5206\u304c\u3001\u4ed6\u306e\u90e8\u5206\u3088\u308a\u3082\u77ed\u304f\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u53e3\u5507\u53e3\u84cb\u88c2\uff08Cleft lip and palate\uff09\uff08\u3053\u3046\u3057\u3093\u3053\u3046\u304c\u3044\u308c\u3064\uff09<\/strong><strong><br><\/strong> \u4e0a\u304f\u3061\u3073\u308b\u3084\u53e3\u306e\u4e2d\u306b\u3059\u304d\u9593\u304c\u3042\u308b\u72b6\u614b\u3067\u3059\u3002\u30df\u30eb\u30af\u304c\u98f2\u307f\u306b\u304f\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5c0f\u982d\u75c7\uff08Microcephaly\uff09\uff08\u3057\u3087\u3046\u3068\u3046\u3057\u3087\u3046\uff09<\/strong><strong><br><\/strong> \u5e74\u9f62\u306e\u5e73\u5747\u3088\u308a\u3001\u982d\u306e\u5927\u304d\u3055\u304c\u5c0f\u3055\u3081\u306b\u898b\u3048\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5c0f\u984e\u75c7\uff08Micrognathia\uff09\uff08\u3057\u3087\u3046\u304c\u304f\u3057\u3087\u3046\uff09<\/strong><strong><br><\/strong> \u3042\u3054\u304c\u5c0f\u3055\u3081\u306b\u898b\u3048\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u773c\u9593\u9694\u958b\u5927\uff08Hypertelorism\uff09\uff08\u304c\u3093\u304b\u3093\u304b\u304f\u304b\u3044\u3060\u3044\uff09<\/strong><strong><br><\/strong> \u76ee\u3068\u76ee\u306e\u9593\u304c\u3001\u5c11\u3057\u5e83\u304f\u611f\u3058\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u89d2\u819c\u6df7\u6fc1\uff08Corneal opacity\uff09\uff08\u304b\u304f\u307e\u304f\u3053\u3093\u3060\u304f\uff09<\/strong><strong><br><\/strong> \u9ed2\u76ee\u306e\u90e8\u5206\u304c\u767d\u304f\u6fc1\u308b\u3053\u3068\u3067\u3001\u898b\u3048\u65b9\u306b\u5f71\u97ff\u304c\u51fa\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u96e3\u8074\uff08Hearing loss\uff09\uff08\u306a\u3093\u3061\u3087\u3046\uff09<\/strong><strong><br><\/strong> \u97f3\u304c\u805e\u3053\u3048\u306b\u304f\u304f\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5fc3\u5ba4\u4e2d\u9694\u6b20\u640d\uff08Ventricular septal defect, VSD\uff09\uff08\u3057\u3093\u3057\u3064\u3061\u3085\u3046\u304b\u304f\u3051\u3063\u305d\u3093\uff09<\/strong><strong><br><\/strong> \u5fc3\u81d3\u306e\u4e2d\u306e\u58c1\u306b\u5c0f\u3055\u306a\u7a74\u304c\u958b\u3044\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u99ac\u8e44\u814e\uff08Horseshoe kidney\uff09\uff08\u3070\u3066\u3044\u3058\u3093\uff09<\/strong><strong><br><\/strong> \u5de6\u53f3\u306e\u814e\u81d3\u304c\u3064\u306a\u304c\u3063\u3066\u30011\u3064\u306eU\u5b57\u578b\u306e\u5f62\u306b\u306a\u3063\u3066\u3044\u308b\u72b6\u614b\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u67d3\u8272\u4f53\u691c\u67fb\uff08Cytogenetic analysis\uff09\uff08\u305b\u3093\u3057\u3087\u304f\u305f\u3044\u3051\u3093\u3055\uff09<\/strong><strong><br><\/strong> \u67d3\u8272\u4f53\u306e\u6570\u3084\u69cb\u9020\u3092\u9855\u5fae\u93e1\u3067\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u5206\u5b50\u907a\u4f1d\u5b66\u7684\u691c\u67fb\uff08Molecular genetic testing\uff09\uff08\u3076\u3093\u3057\u3044\u3067\u3093\u304c\u304f\u3066\u304d\u3051\u3093\u3055\uff09<\/strong><strong><br><\/strong> DNA\u306e\u914d\u5217\u3092\u8abf\u3079\u3066\u3001\u907a\u4f1d\u5b50\u306b\u5909\u5316\u304c\u306a\u3044\u304b\u78ba\u8a8d\u3059\u308b\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong><a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/about-clinic\/amniocentesis\/\">\u7f8a\u6c34\u691c\u67fb<\/a>\uff08Amniocentesis\uff09\uff08\u3088\u3046\u3059\u3044\u3051\u3093\u3055\uff09<\/strong><strong><br><\/strong> \u304a\u8179\u304b\u3089\u7f8a\u6c34\u3092\u63a1\u53d6\u3057\u3066\u3001\u8d64\u3061\u3083\u3093\u306e\u907a\u4f1d\u5b50\u3084\u67d3\u8272\u4f53\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\u3002\u4f53\u306b\u91dd\u3092\u523a\u3059\u65b9\u6cd5\u306e\u305f\u3081\u3001\u5c11\u3057\u3060\u3051\u8d64\u3061\u3083\u3093\u3092\u5931\u3046\u30ea\u30b9\u30af\u3082\u3042\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>PGT-M\uff08\u7740\u5e8a\u524d\u907a\u4f1d\u5b50\u8a3a\u65ad\uff09\uff08\u3061\u3083\u304f\u3057\u3087\u3046\u307e\u3048\u3057\u3093\u3060\u3093\uff09<\/strong><strong><br><\/strong> \u4f53\u5916\u53d7\u7cbe\u3067\u3067\u304d\u305f\u53d7\u7cbe\u5375\u306e\u907a\u4f1d\u5b50\u3092\u8abf\u3079\u3066\u3001\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u306e\u30ea\u30b9\u30af\u3092\u6e1b\u3089\u3059\u305f\u3081\u306b\u884c\u3046\u691c\u67fb\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30b8\u30e5\u30d0\u30fc\u30b0\uff1d\u30d8\u30a4\u30ef\u30fc\u30c9\u75c7\u5019\u7fa4\uff08Juberg\u2013Hayward syndrome, JHS\uff09\uff08\u3058\u3085\u3070\u30fc\u3050\u3078\u3044\u308f\u30fc\u3069\u3057\u3087\u3046\u3053\u3046\u3050\u3093\uff09<\/strong><strong><br><\/strong> \u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306b\u4f3c\u305f\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u3067\u3001\u75c7\u72b6\u304c\u6bd4\u8f03\u7684\u8efd\u3044\u3053\u3068\u304c\u591a\u3044\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>SC\u30d5\u30a9\u30b3\u30e1\u30ea\u30a2\u75c7\u5019\u7fa4\uff08SC phocomelia syndrome\uff09\uff08\u3048\u3059\u3057\u30fc\u3075\u3049\u3053\u3081\u308a\u3042\u3057\u3087\u3046\u3053\u3046\u3050\u3093\uff09<\/strong><strong><br><\/strong> \u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u3068\u3068\u3066\u3082\u4f3c\u305f\u7279\u5fb4\u3092\u6301\u3064\u3001\u5225\u306e\u307e\u308c\u306a\u75c5\u6c17\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u507d\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\uff08Phenocopy\uff09\uff08\u306b\u305b\u308d\u3070\u30fc\u3064\u3057\u3087\u3046\u3053\u3046\u3050\u3093\uff09<\/strong><strong><br><\/strong> \u898b\u305f\u76ee\u304c\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306b\u4f3c\u3066\u3044\u3066\u3082\u3001\u539f\u56e0\u304c\u307e\u3063\u305f\u304f\u7570\u306a\u308b\u5225\u306e\u75c5\u6c17\uff08\u4f8b\uff1a\u30b5\u30ea\u30c9\u30de\u30a4\u30c9\u306e\u5f71\u97ff\u306a\u3069\uff09\u3092\u6307\u3057\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u907a\u4f1d\u5b50\u2013\u8868\u73fe\u578b\u76f8\u95a2\uff08Genotype\u2013phenotype correlation\uff09\uff08\u3044\u3067\u3093\u3057\u2013\u3072\u3087\u3046\u3052\u3093\u304c\u305f\u305d\u3046\u304b\u3093\uff09<br><\/strong> \u3069\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u304c\u3001\u3069\u3093\u306a\u75c7\u72b6\u306b\u95a2\u4fc2\u3057\u3066\u3044\u308b\u306e\u304b\u3092\u8abf\u3079\u308b\u8003\u3048\u65b9\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u30ad\u30e3\u30ea\u30a2\uff08Carrier\uff09\uff08\u307b\u3044\u3093\u3057\u3083\uff09<\/strong><strong><br><\/strong> \u75c7\u72b6\u306f\u51fa\u3066\u3044\u306a\u3044\u3051\u308c\u3069\u3001\u7279\u5b9a\u306e\u907a\u4f1d\u5b50\u306e\u5909\u5316\u3092\u6301\u3063\u3066\u3044\u308b\u4eba\u306e\u3053\u3068\u3067\u3059\u3002<\/p>\n\n\n\n<p><strong>\u518d\u767a\u30ea\u30b9\u30af\uff08Recurrence risk\uff09\uff08\u3055\u3044\u306f\u3064\u308a\u3059\u304f\uff09<\/strong><strong><br><\/strong> \u6b21\u306e\u598a\u5a20\u3067\u540c\u3058\u75c5\u6c17\u304c\u8d77\u3053\u308b\u53ef\u80fd\u6027\u3092\u8868\u3057\u307e\u3059\u3002\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4\u306e\u5834\u5408\u300125\uff05\u3068\u3055\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u62e1\u5927\u30ad\u30e3\u30ea\u30a2\u30b9\u30af\u30ea\u30fc\u30cb\u30f3\u30b0\uff08Expanded carrier screening\uff09\uff08\u304b\u304f\u3060\u3044\u304d\u3083\u308a\u3042\u3059\u304f\u308a\u30fc\u306b\u3093\u3050\uff09<br><\/strong> \u598a\u5a20\u524d\u306b\u3001\u8907\u6570\u306e\u907a\u4f1d\u6027\u306e\u75c5\u6c17\u306b\u3064\u3044\u3066\u3001\u81ea\u5206\u304c\u30ad\u30e3\u30ea\u30a2\u304b\u3069\u3046\u304b\u3092\u8abf\u3079\u308b\u691c\u67fb\u3067\u3059\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%EF%BD%9CReferences\"><\/span>\u5f15\u7528\u6587\u732e\uff5cReferences<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><a href=\"https:\/\/doi.org\/10.1093\/ejo\/cjaa023\">Kantaputra, P. N., Dejkhamron, P., Intachai, W., Ngamphiw, C., Kawasaki, K., Ohazama, A., Krisanaprakornkit, S., Olsen, B., Tongsima, S., &amp; Ketudat Cairns, J. R. (2021). Juberg-Hayward syndrome is a cohesinopathy, caused by mutation in ESCO2. European journal of orthodontics, 43(1), 45\u201350. https:\/\/doi.org\/10.1093\/ejo\/cjaa023<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/omim.org\/entry\/609353\">Online Mendelian Inheritance in Man (OMIM). (2021, July 9). ESTABLISHMENT OF SISTER CHROMATID COHESION N-ACETYLTRANSFERASE 2; ESCO2 (MIM# 609353). Edited by Bao Lige and mgross. Originally created by Victor A. McKusick on May 4, 2005. Retrieved from https:\/\/omim.org\/entry\/609353<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1016\/j.ejmg.2018.12.013\">Sezer, A., Kayhan, G., Zenker, M., &amp; Percin, E. F. (2019). Hypopigmented patches in Roberts\/SC phocomelia syndrome occur via aneuploidy susceptibility. European journal of medical genetics, 62(12), 103608. https:\/\/doi.org\/10.1016\/j.ejmg.2018.12.013<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1093\/nar\/gkad533\">Fu, J., Zhou, S., Xu, H., Liao, L., Shen, H., Du, P., &amp; Zheng, X. (2023). ATM-ESCO2-SMC3 axis promotes 53BP1 recruitment in response to DNA damage and safeguards genome integrity by stabilizing cohesin complex. Nucleic acids research, 51(14), 7376\u20137391. https:\/\/doi.org\/10.1093\/nar\/gkad533<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1153\/\">Vega H, Gordillo M, Jabs EW. ESCO2 Spectrum Disorder. 2006 Apr 18 [Updated 2020 Mar 26]. In: Adam MP, Feldman J, Mirzaa GM, et al., editors. GeneReviews\u00ae [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2025. Available from: https:\/\/www.ncbi.nlm.nih.gov\/books\/NBK1153\/<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1186\/s12885-024-12213-w\">Huang, Y., Chen, D., Bai, Y., Zhang, Y., Zheng, Z., Fu, Q., Yi, B., Jiang, Y., Zhang, Z., &amp; Zhu, J. (2024). ESCO2&#8217;s oncogenic role in human tumors: a pan-cancer analysis and experimental validation. BMC cancer, 24(1), 452. https:\/\/doi.org\/10.1186\/s12885-024-12213-w<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1007\/s10577-023-09711-1\">Jevitt, A. M., Rankin, B. D., Chen, J., &amp; Rankin, S. (2023). The cohesin modifier ESCO2 is stable during DNA replication. Chromosome research : an international journal on the molecular, supramolecular and evolutionary aspects of chromosome biology, 31(1), 6. https:\/\/doi.org\/10.1007\/s10577-023-09711-1<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1002\/pd.6069\">Stevens, Blair K., et al. \u2018Utility of Expanded Carrier Screening in Pregnancies with Ultrasound Abnormalities\u2019. Prenatal Diagnosis, vol. 42, no. 1, Jan. 2022, pp. 60\u201378. DOI.org (Crossref), https:\/\/doi.org\/10.1002\/pd.6069.<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/doi.org\/10.1038\/s41598-019-47739-8\">Gomes, J.d.A., Kowalski, T.W., Fraga, L.R. et al. The role of ESCO2, SALL4 and TBX5 genes in the susceptibility to thalidomide teratogenesis. Sci Rep 9, 11413 (2019). https:\/\/doi.org\/10.1038\/s41598-019-47739-8<\/a><\/li>\n\n\n\n<li><a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/39460617\/\">Perez G, Barber GP, Benet-Pages A, Casper J, Clawson H, Diekhans M, Fischer C, Gonzalez JN, Hinrichs AS, Lee CM, Nassar LR, Raney BJ, Speir ML, van Baren MJ, Vaske CJ, Haussler D, Kent WJ, Haeussler M. The UCSC Genome Browser database: 2025 update. Nucleic Acids Res. 2025 Jan 6;53(D1):D1243-D1249. doi: 10.1093\/nar\/gkae974. PMID: 39460617; PMCID: PMC11701590.<\/a><\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><span class=\"ez-toc-section\" id=\"%E3%82%AD%E3%83%BC%E3%83%AF%E3%83%BC%E3%83%89%EF%BD%9CKeywords\"><\/span>\u30ad\u30fc\u30ef\u30fc\u30c9\uff5cKeywords<span class=\"ez-toc-section-end\"><\/span><\/h2>\n\n\n\n<p class=\"has-text-align-center\"><sup>\u30ed\u30d0\u30fc\u30c4\u75c7\u5019\u7fa4,ESCO2,\u30b3\u30d2\u30fc\u30b7\u30ce\u30d1\u30c1\u30fc\uff08cohesinopathy\uff09,\u67d3\u8272\u5206\u4f53\u306e\u7d50\u5408,SMC3,\u30a2\u30bb\u30c1\u30eb\u30c8\u30e9\u30f3\u30b9\u30d5\u30a7\u30e9\u30fc\u30bc, \u65e9\u671f\u30bb\u30f3\u30c8\u30ed\u30e1\u30a2\u5206\u96e2,\u30d8\u30c6\u30ed\u30af\u30ed\u30de\u30c1\u30f3\u53cd\u767a,\u56db\u80a2\u6b20\u640d,\u30e1\u30bd\u30e1\u30ea\u30c3\u30af\u77ed\u7e2e,\u53e3\u5507\u53e3\u84cb\u88c2, \u982d\u84cb\u9854\u9762\u7570\u5e38,<a 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