{"id":16655,"date":"2026-01-19T07:38:08","date_gmt":"2026-01-19T07:38:08","guid":{"rendered":"https:\/\/www.hiro-clinic.or.jp\/gene\/?post_type=genetic-screening&#038;p=16655"},"modified":"2026-01-19T07:40:16","modified_gmt":"2026-01-19T07:40:16","slug":"15q25-2-deletion-proximal-syndrome","status":"publish","type":"genetic-screening","link":"https:\/\/www.hiro-clinic.or.jp\/gene\/genetic-screening\/15q25-2-deletion-proximal-syndrome\/","title":{"rendered":"15q25.2 deletion (proximal) syndrome"},"content":{"rendered":"\n<h2 class=\"wp-block-heading\"><strong>\u5225\u540d\u30fb\u95a2\u9023\u75be\u60a3\u540d<\/strong><\/h2>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>15q25.2 microdeletion syndrome<\/strong> \u2014 15q25.2 \u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931\u306b\u3088\u308b\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4\u306e\u4e00\u822c\u540d\u3002 (<a href=\"https:\/\/www.dovemed.com\/diseases-conditions\/chromosome-15q252-microdeletion-syndrome?utm_source=chatgpt.com\">DoveMed<\/a>)<\/li>\n\n\n\n<li><strong>Chromosome 15q25 deletion syndrome<\/strong> \u2014 15\u756a\u67d3\u8272\u4f53 q25 \u9818\u57df\u6b20\u5931\u75c7\u5019\u7fa4\u3068\u3057\u3066\u95a2\u9023\u60c5\u5831\u3067\u6271\u308f\u308c\u308b\u540d\u79f0\u3002 (<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q25_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/li>\n\n\n\n<li>\u75c7\u4f8b\u5831\u544a\u3067\u306f <strong>15q25.2 proximal deletion<\/strong> \u3068\u660e\u8a18\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u7279\u306b\u6b20\u5931\u304c\u8fd1\u4f4d\u5074\u306b\u9650\u5c40\u3059\u308b\u5834\u5408\u306e\u8868\u8a18\u3068\u3057\u3066\u4f7f\u308f\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q25-2-deletion-proximal-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u5bfe\u8c61\u67d3\u8272\u4f53\u9818\u57df<\/strong><\/h2>\n\n\n\n<p><strong>\u7b2c15\u756a\u67d3\u8272\u4f53 \u9577\u8155\uff08q\uff09\u306e 25.2 \u9818\u57df<\/strong>\u306b\u304a\u3051\u308b <strong>\u5fae\u5c0f\u6b20\u5931\uff08microdeletion\uff09<\/strong> \u304c\u672c\u75c7\u5019\u7fa4\u306e\u539f\u56e0\u3067\u3059\u3002<br>\u3053\u306e\u9818\u57df\u306f 15q25.2A\u301c15q25.2D \u306a\u3069 <strong>\u4f4e\u30b3\u30d4\u30fc\u53cd\u5fa9\u914d\u5217\uff08LCR\uff09<\/strong> \u3092\u4ecb\u3057\u305f\u518d\u7de8\u6210\u304c\u8d77\u3053\u308a\u3084\u3059\u3044\u90e8\u4f4d\u3067\u3001\u6b20\u5931\u306f\u901a\u5e38 <strong>1.4 Mb \u301c \u6570 Mb<\/strong> \u306e\u5927\u304d\u3055\u306b\u306a\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/32894148\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/p>\n\n\n\n<p>\u6b20\u5931\u9818\u57df\u306b\u306f <strong>CPEB1\u3001AP3B2\u3001SCARNA15\u3001HOMER2\u3001RPS17 \u306a\u3069\u8907\u6570\u306e\u907a\u4f1d\u5b50<\/strong> \u304c\u542b\u307e\u308c\u3001\u795e\u7d4c\u767a\u9054\u3084\u7d30\u80de\u6a5f\u80fd\u306b\u95a2\u9023\u3059\u308b\u907a\u4f1d\u5b50\u304c\u5f71\u97ff\u3092\u53d7\u3051\u308b\u3053\u3068\u304c\u8868\u73fe\u578b\u3068\u95a2\u9023\u3059\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37500?utm_source=chatgpt.com\">ClinGen<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u767a\u751f\u983b\u5ea6<\/strong><\/h2>\n\n\n\n<p>15q25.2 deletion (proximal) syndrome \u306f <strong>\u6975\u3081\u3066\u7a00\u306a\u67d3\u8272\u4f53\u7570\u5e38\u75be\u60a3<\/strong>\u3067\u3042\u308a\u3001\u5831\u544a\u4f8b\u306f\u975e\u5e38\u306b\u9650\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u4e16\u754c\u7684\u306a\u75c7\u4f8b\u6570\u306f <strong>10\u4f8b\u672a\u6e80\u301c\u6570\u5341\u4f8b\u7a0b\u5ea6<\/strong> \u3068\u3055\u308c\u3001\u6b63\u78ba\u306a\u96c6\u56e3\u30ec\u30d9\u30eb\u306e\u767a\u751f\u983b\u5ea6\u306f\u78ba\u7acb\u3057\u3066\u3044\u307e\u305b\u3093\u3002 (<a href=\"https:\/\/www.dovemed.com\/diseases-conditions\/chromosome-15q252-microdeletion-syndrome?utm_source=chatgpt.com\">DoveMed<\/a>)<\/li>\n\n\n\n<li>\u8efd\u5ea6\u306e\u75c7\u72b6\u4f8b\u306f\u8a3a\u65ad\u3055\u308c\u306a\u3044\u307e\u307e\u4e00\u751f\u3092\u904e\u3054\u3059\u3053\u3068\u3082\u3042\u308a\u3001\u5b9f\u969b\u306e\u983b\u5ea6\u306f\u5831\u544a\u5024\u3088\u308a\u9ad8\u3044\u53ef\u80fd\u6027\u3082\u6307\u6458\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/www.dovemed.com\/diseases-conditions\/chromosome-15q252-microdeletion-syndrome?utm_source=chatgpt.com\">DoveMed<\/a>)<\/li>\n\n\n\n<li>\u591a\u304f\u306f <strong>\u65b0\u751f\u7a81\u7136\u5909\u7570\uff08de novo\uff09<\/strong> \u3068\u3057\u3066\u767a\u751f\u3057\u307e\u3059\u304c\u3001\u307e\u308c\u306b\u5bb6\u65cf\u5185\u4f1d\u64ad\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37500?utm_source=chatgpt.com\">ClinGen<\/a>)<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u81e8\u5e8a\u7684\u7279\u5fb4\uff08\u75c7\u72b6\uff09<\/strong><\/h2>\n\n\n\n<p>15q25.2 deletion (proximal) syndrome \u306e\u81e8\u5e8a\u50cf\u306f\u591a\u5f69\u3067\u3042\u308a\u3001\u500b\u4f53\u5dee\u304c\u5927\u304d\u3044\u3082\u306e\u306e\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u4e3b\u8981\u306a\u7279\u5fb4\u304c\u8907\u6570\u306e\u5831\u544a\u3067\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23166063\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/p>\n\n\n\n<p><strong>1. \u767a\u9054\u9045\u5ef6\u30fb\u77e5\u7684\u969c\u5bb3<\/strong><\/p>\n\n\n\n<p>\u591a\u304f\u306e\u60a3\u8005\u3067 <strong>\u767a\u9054\u9045\u5ef6\uff08developmental delay\uff09<\/strong> \u3068 <strong>\u77e5\u7684\u969c\u5bb3\uff08intellectual disability\uff09<\/strong> \u304c\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002\u7279\u306b <strong>\u8a00\u8a9e\u767a\u9054\u3068\u904b\u52d5\u767a\u9054\u306e\u9045\u308c<\/strong> \u304c\u76ee\u7acb\u3064\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002<br>\u5e7c\u5150\u671f\u306b\u304a\u3051\u308b\u30b9\u30d4\u30fc\u30c1\u9045\u5ef6\u3084\u5354\u8abf\u904b\u52d5\u306e\u8ab2\u984c\u3001\u5b66\u7ae5\u671f\u3067\u306e\u5b66\u7fd2\u9762\u3067\u306e\u56f0\u96e3\u304c\u89b3\u5bdf\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23166063\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/p>\n\n\n\n<p><strong>2. \u884c\u52d5\u30fb\u795e\u7d4c\u767a\u9054\u75c7\u72b6<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u60a3\u8005\u3067\u306f <strong>\u884c\u52d5\u554f\u984c\u3084\u60c5\u7dd2\u9762\u306e\u8ab2\u984c<\/strong>\uff08\u4f8b\u3048\u3070\u6ce8\u610f\u529b\u6b20\u5982\u3001\u793e\u4f1a\u6027\u306e\u56f0\u96e3\u306a\u3069\uff09\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u3001\u81ea\u9589\u75c7\u30b9\u30da\u30af\u30c8\u30e9\u30e0\u969c\u5bb3\uff08ASD\uff09\u306e\u985e\u4f3c\u75c7\u72b6\u3084\u4e0d\u5b89\u50be\u5411\u304c\u898b\u3089\u308c\u308b\u5834\u5408\u3082\u3042\u308a\u307e\u3059\u3002<br>\u3053\u308c\u3089\u306f\u591a\u304f\u306e\u67d3\u8272\u4f53\u5fae\u5c0f\u6b20\u5931\u75c7\u3067\u3082\u5171\u901a\u3059\u308b\u7279\u5fb4\u3067\u3059\u304c\u300115q25.2\u6b20\u5931\u3067\u3082\u540c\u69d8\u306b\u89b3\u5bdf\u3055\u308c\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23166063\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/p>\n\n\n\n<p><strong>3. \u8eab\u4f53\u7684\u7279\u5fb4<\/strong><\/p>\n\n\n\n<p>15q25.2 \u6b20\u5931\u4f8b\u306b\u306f <strong>\u7279\u5fb4\u7684\u306a\u9854\u8c8c\uff08\u8efd\u5ea6\u306e\u7570\u5e38\u9854\u8c8c\uff09<\/strong> \u304c\u898b\u3089\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002\u3053\u308c\u306b\u306f\u773c\u306e\u8ddd\u96e2\u304c\u5e83\u3044\u3001\u4e0b\u773c\u77bc\u88c2\u306e\u5f62\u72b6\u7570\u5e38\u306a\u3069\u304c\u542b\u307e\u308c\u308b\u5834\u5408\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3059\u3079\u3066\u306e\u60a3\u8005\u306b\u5171\u901a\u3059\u308b\u308f\u3051\u3067\u306f\u3042\u308a\u307e\u305b\u3093\u3002 (<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q25_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/p>\n\n\n\n<p><strong>4. \u8eab\u9577\u30fb\u4f53\u683c\u306e\u7570\u5e38<\/strong><\/p>\n\n\n\n<p><strong>\u4f4e\u8eab\u9577\uff08short stature\uff09<\/strong> \u304c\u5831\u544a\u3055\u308c\u308b\u4f8b\u304c\u3042\u308a\u307e\u3059\u3002\u307e\u305f\u3001\u7b4b\u7dca\u5f35\u3084\u9aa8\u683c\u306e\u69cb\u9020\u306b\u95a2\u9023\u3059\u308b\u7570\u5e38\u304c\u89b3\u5bdf\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u3002 (<a href=\"https:\/\/www.malacards.org\/card\/chromosome_15q25_deletion_syndrome?utm_source=chatgpt.com\">MalaCards<\/a>)<\/p>\n\n\n\n<p><strong>5. \u5148\u5929\u6027\u5947\u5f62<\/strong><\/p>\n\n\n\n<p>15q25.2\u6b20\u5931\u306e\u75c7\u4f8b\u306e\u4e00\u90e8\u3067\u306f\u3001\u4ee5\u4e0b\u306e\u3088\u3046\u306a\u5148\u5929\u6027\u5947\u5f62\u304c\u898b\u3089\u308c\u3066\u3044\u307e\u3059\u3002<\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2\uff08congenital diaphragmatic hernia; CDH\uff09<\/strong> \u2014 \u3053\u306e\u9818\u57df\u306e\u6b20\u5931\u3068\u95a2\u9023\u3057\u305f\u5831\u544a\u304c\u793a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3225959\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li><strong>\u9670\u56a2\u88c2\u30fb\u9f20\u5f84\u30d8\u30eb\u30cb\u30a2<\/strong> \u2014 \u4e00\u90e8\u75c7\u4f8b\u3067\u89b3\u5bdf\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/32894148\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n\n\n\n<li><strong>\u8ca7\u8840\u3084\u8d64\u8840\u7403\u95a2\u9023\u306e\u7570\u5e38\uff08\u4f8b\uff1aDiamond\u2013Blackfan\u8ca7\u8840\u50be\u5411\uff09<\/strong> \u2014 \u7279\u5b9a\u907a\u4f1d\u5b50\u6b20\u5931\u306b\u95a2\u9023\u3059\u308b\u53ef\u80fd\u6027\u304c\u793a\u5506\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3225959\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li><strong>\u6027\u817a\u6a5f\u80fd\u4f4e\u4e0b\/\u65e9\u767a\u5375\u5de3\u4e0d\u5168<\/strong> \u2014 \u5834\u5408\u306b\u3088\u3063\u3066\u306f\u6b20\u5931\u306b\u542b\u307e\u308c\u308b BNC1 \u907a\u4f1d\u5b50\u306e\u5f71\u97ff\u3067\u751f\u6b96\u6a5f\u80fd\u306b\u8ab2\u984c\u304c\u51fa\u308b\u4f8b\u3082\u5831\u544a\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-020-00787-w?utm_source=chatgpt.com\">SpringerLink<\/a>)<\/li>\n<\/ul>\n\n\n\n<p><strong>6. \u305d\u306e\u4ed6\u306e\u6a5f\u80fd\u7570\u5e38<\/strong><\/p>\n\n\n\n<p>\u6b20\u5931\u4f8b\u306b\u306f <strong>\u8ca7\u8840\u3001\u81d3\u5668\u306e\u5f62\u6210\u7570\u5e38\u3001\u80f8\u90e8\u5909\u5f62<\/strong> \u306a\u3069\u3001\u591a\u5f69\u306a\u8eab\u4f53\u6240\u898b\u304c\u5831\u544a\u3055\u308c\u308b\u3053\u3068\u304c\u3042\u308a\u307e\u3059\u304c\u3001\u3053\u308c\u3089\u306f\u6b20\u5931\u7bc4\u56f2\u3084\u542b\u307e\u308c\u308b\u907a\u4f1d\u5b50\u306b\u3088\u3063\u3066\u500b\u4f53\u5dee\u304c\u5927\u304d\u3044\u3067\u3059\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/32894148\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u539f\u56e0<\/strong><\/h2>\n\n\n\n<p>\u672c\u75be\u60a3\u306f\u300115\u756a\u67d3\u8272\u4f53\u9577\u8155 q25.2 \u9818\u57df\u306e <strong>\u4e00\u90e8\u304c\u6b20\u5931\u3059\u308b\u3053\u3068<\/strong> \u306b\u3088\u3063\u3066\u767a\u75c7\u3057\u307e\u3059\u3002\u3053\u306e\u6b20\u5931\u306f\u901a\u5e38 <strong>\u67d3\u8272\u4f53\u30de\u30a4\u30af\u30ed\u30a2\u30ec\u30a4\u89e3\u6790\uff08CMA\uff09\uff0farray-CGH<\/strong> \u306b\u3088\u308a\u691c\u51fa\u3055\u308c\u308b\u5fae\u5c0f\u6b20\u5931\u3067\u3001\u74b0\u5883\u56e0\u5b50\u3084\u751f\u6d3b\u7fd2\u6163\u3068\u306f\u95a2\u9023\u3057\u306a\u3044 <strong>\u907a\u4f1d\u7684\u69cb\u9020\u5909\u5316<\/strong> \u3067\u3059\u3002 (<a href=\"https:\/\/www.dovemed.com\/diseases-conditions\/chromosome-15q252-microdeletion-syndrome?utm_source=chatgpt.com\">DoveMed<\/a>)<\/p>\n\n\n\n<p>\u6b20\u5931\u306f\u591a\u304f\u306e\u5834\u5408 <strong>de novo\uff08\u65b0\u751f\u7a81\u7136\u5909\u7570\uff09<\/strong> \u3068\u3057\u3066\u751f\u3058\u307e\u3059\u304c\u3001\u307e\u308c\u306b\u89aa\u304b\u3089\u306e\u907a\u4f1d\u3068\u3057\u3066\u4f1d\u308f\u308b\u4f8b\u3082\u3042\u308a\u307e\u3059\u3002\u6b20\u5931\u3055\u308c\u308b\u907a\u4f1d\u5b50\u304c\u91cd\u8981\u306a\u6a5f\u80fd\u3092\u6301\u3064\u5834\u5408\u3001\u305d\u306e <strong>\u30cf\u30d7\u30ed\u4e0d\u5168\uff08haploinsufficiency\uff09<\/strong> \u306b\u3088\u3063\u3066\u795e\u7d4c\u767a\u9054\u3084\u8eab\u4f53\u767a\u9054\u306e\u6a5f\u80fd\u304c\u5f71\u97ff\u3092\u53d7\u3051\u308b\u3068\u8003\u3048\u3089\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37500?utm_source=chatgpt.com\">ClinGen<\/a>)<\/p>\n\n\n\n<p>\u62e1\u5927\u3055\u308c\u305f\u75c7\u4f8b\u7814\u7a76\u3067\u306f\u3001\u6b20\u5931\u9818\u57df\u5185\u306e\u907a\u4f1d\u5b50\u3068\u3057\u3066 <strong>CPEB1\u3001AP3B2\u3001SCARNA15<\/strong> \u304c\u77e5\u7684\u767a\u9054\u306b\u95a2\u9023\u3059\u308b\u5019\u88dc\u3068\u3057\u3066\u63d0\u5531\u3055\u308c\u3066\u3044\u307e\u3059\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37500?utm_source=chatgpt.com\">ClinGen<\/a>)<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u6cbb\u7642\u65b9\u6cd5<\/strong><\/h2>\n\n\n\n<p>15q25.2 deletion (proximal) syndrome \u306b\u5bfe\u3059\u308b <strong>\u6839\u672c\u7684\u306a\u6cbb\u7642\uff08\u6b20\u5931\u305d\u306e\u3082\u306e\u3092\u4fee\u5fa9\u3059\u308b\u6cbb\u7642\uff09\u306f\u5b58\u5728\u3057\u307e\u305b\u3093<\/strong>\u3002\u305d\u306e\u305f\u3081\u3001\u6cbb\u7642\u306f\u4e3b\u306b <strong>\u75c7\u72b6\u3054\u3068\u306e\u652f\u6301\u7642\u6cd5\u3068\u30ea\u30cf\u30d3\u30ea\u30c6\u30fc\u30b7\u30e7\u30f3<\/strong> \u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<p><strong>\u767a\u9054\u652f\u63f4\u30fb\u7642\u80b2<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u65e9\u671f\u4ecb\u5165<\/strong>\uff08\u7406\u5b66\u7642\u6cd5\u3001\u4f5c\u696d\u7642\u6cd5\u3001\u8a00\u8a9e\u7642\u6cd5\uff09\u306b\u3088\u308b\u904b\u52d5\u30fb\u8a00\u8a9e\u767a\u9054\u652f\u63f4\u3002<\/li>\n\n\n\n<li>\u5b66\u7ae5\u671f\u4ee5\u964d\u306f <strong>\u500b\u5225\u6559\u80b2\u8a08\u753b\uff08IEP\uff09<\/strong> \u3092\u4f5c\u6210\u3057\u3001\u6559\u80b2\u652f\u63f4\u30b5\u30fc\u30d3\u30b9\u3092\u9069\u7528\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u884c\u52d5\u30fb\u795e\u7d4c\u652f\u63f4<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>ASD \u3084 ADHD \u985e\u4f3c\u306e<strong>\u884c\u52d5\u7642\u6cd5\u30fb\u5fc3\u7406\u652f\u63f4<\/strong>\u3002<\/li>\n\n\n\n<li>\u60c5\u7dd2\u4e0d\u5b89\u5b9a\u3084\u4e0d\u5b89\u75c7\u72b6\u304c\u3042\u308b\u5834\u5408\u306b\u306f\u5fc3\u7406\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5148\u5929\u5947\u5f62\u306e\u533b\u7642\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li> <strong>\u5148\u5929\u6027\u6a2a\u9694\u819c\u30d8\u30eb\u30cb\u30a2<\/strong> \u3084\u5404\u7a2e\u5947\u5f62\u306b\u5bfe\u3057\u3066\u306f\u5916\u79d1\u7684\u4fee\u6b63\u30fb\u5c02\u9580\u533b\u30d5\u30a9\u30ed\u30fc\u3002<\/li>\n\n\n\n<li>\u6027\u817a\u3084\u751f\u6b96\u6a5f\u80fd\u3078\u306e\u5f71\u97ff\u304c\u3042\u308b\u5834\u5408\u306f <strong>\u5185\u5206\u6ccc\u30fb\u5a66\u4eba\u79d1\uff0f\u6ccc\u5c3f\u5668\u79d1\u8a55\u4fa1<\/strong>\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u5065\u5eb7\u30fb\u5408\u4f75\u75c7\u306e\u7ba1\u7406<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li><strong>\u8ca7\u8840\u7ba1\u7406<\/strong>\u3084\u6804\u990a\u8a55\u4fa1\u3002<\/li>\n\n\n\n<li>\u5b9a\u671f\u7684\u306a\u6210\u9577\u30fb\u767a\u9054\u8a55\u4fa1\u3002<\/li>\n\n\n\n<li>\u611f\u899a\u6a5f\u80fd\uff08\u8996\u899a\u30fb\u8074\u899a\uff09\u30d5\u30a9\u30ed\u30fc\u3002<\/li>\n<\/ul>\n\n\n\n<p><strong>\u907a\u4f1d\u30ab\u30a6\u30f3\u30bb\u30ea\u30f3\u30b0<\/strong><\/p>\n\n\n\n<ul class=\"wp-block-list\">\n<li>\u6b20\u5931\u306e\u6027\u8cea\u3001<strong>\u518d\u767a\u30ea\u30b9\u30af\u306e\u8a55\u4fa1\u3068\u8aac\u660e<\/strong>\u3002<\/li>\n\n\n\n<li>\u51fa\u751f\u524d\u691c\u67fb\u30aa\u30d7\u30b7\u30e7\u30f3\u3068\u598a\u5a20\u8a08\u753b\u306e\u76f8\u8ac7\u3002<\/li>\n<\/ul>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u307e\u3068\u3081<\/strong><\/h2>\n\n\n\n<p><strong>15q25.2 deletion (proximal) syndrome<\/strong> \u306f\u300115\u756a\u67d3\u8272\u4f53\u9577\u8155\u306e <strong>q25.2 \u9818\u57df\u306e\u5fae\u5c0f\u6b20\u5931<\/strong> \u306b\u3088\u308b\u975e\u5e38\u306b\u7a00\u306a\u5148\u5929\u6027\u67d3\u8272\u4f53\u7570\u5e38\u75c7\u5019\u7fa4\u3067\u3059\u3002\u75c7\u72b6\u306f <strong>\u767a\u9054\u9045\u5ef6\u30fb\u77e5\u7684\u969c\u5bb3\u3001\u884c\u52d5\u9762\u306e\u8ab2\u984c\u3001\u8eab\u4f53\u7684\u7279\u5fb4\u3001\u5148\u5929\u6027\u5947\u5f62\u3001\u6027\u817a\u6a5f\u80fd\u7570\u5e38\u3001\u8ca7\u8840\u50be\u5411<\/strong> \u306a\u3069\u591a\u5f69\u3067\u500b\u4eba\u5dee\u304c\u5927\u304d\u3044\u3053\u3068\u304c\u7279\u5fb4\u3067\u3059\u3002\u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u8907\u6570\u306e\u907a\u4f1d\u5b50\u304c\u795e\u7d4c\u767a\u9054\u3084\u4ed6\u306e\u8eab\u4f53\u6a5f\u80fd\u306b\u95a2\u308f\u3063\u3066\u3044\u308b\u3068\u8003\u3048\u3089\u308c\u3001\u6cbb\u7642\u306f\u6839\u672c\u6cbb\u7642\u3067\u306f\u306a\u304f <strong>\u75c7\u72b6\u3054\u3068\u306e\u652f\u6301\u7642\u6cd5\u3068\u591a\u8077\u7a2e\u652f\u63f4<\/strong> \u304c\u57fa\u672c\u306b\u306a\u308a\u307e\u3059\u3002<\/p>\n\n\n\n<h2 class=\"wp-block-heading\"><strong>\u53c2\u8003\u6587\u732e\u5143<\/strong><\/h2>\n\n\n\n<ol class=\"wp-block-list\">\n<li>Palumbo O, et al. <strong>An emerging phenotype of interstitial 15q25.2 microdeletions:<\/strong> clinical report and review \u2014 \u767a\u9054\u9045\u5ef6\u30fb\u884c\u52d5\u7570\u5e38\u30fb\u8efd\u5ea6\u7570\u5e38\u306a\u3069\u3002 (<a href=\"https:\/\/pubmed.ncbi.nlm.nih.gov\/23166063\/?utm_source=chatgpt.com\">PubMed<\/a>)<\/li>\n\n\n\n<li>Wat MJ, et al. <strong>Recurrent microdeletions of 15q25.2:<\/strong> congenital diaphragmatic hernia, cognitive deficits, anemia \u2014 15q25.2\u6b20\u5931\u3068\u95a2\u9023\u5408\u4f75\u75c7\u3002 (<a href=\"https:\/\/pmc.ncbi.nlm.nih.gov\/articles\/PMC3225959\/?utm_source=chatgpt.com\">PMC<\/a>)<\/li>\n\n\n\n<li>Chen Z, et al. <strong>15q25.2 microdeletion phenotype: premature ovarian failure case report<\/strong> \u2014 \u6b20\u5931\u3068\u751f\u6b96\u6a5f\u80fd\u969c\u5bb3\u3002 (<a href=\"https:\/\/bmcmedgenomics.biomedcentral.com\/articles\/10.1186\/s12920-020-00787-w?utm_source=chatgpt.com\">SpringerLink<\/a>)<\/li>\n\n\n\n<li>ClinicalGenome\/ISCA Region Summary 15q25.2 \u2014 \u6b20\u5931\u306b\u542b\u307e\u308c\u308b\u5019\u88dc\u907a\u4f1d\u5b50\u3068\u767a\u9054\u95a2\u9023\u3002 (<a href=\"https:\/\/search.clinicalgenome.org\/kb\/gene-dosage\/region\/ISCA-37500?utm_source=chatgpt.com\">ClinGen<\/a>)<\/li>\n\n\n\n<li>Hiro Clinic \/ NIPT Summary: 15q25.2 Deletion (Proximal) Syndrome \u2014 \u539f\u56e0\u3068\u57fa\u672c\u75c7\u72b6\u6982\u8981\u3002 (<a href=\"https:\/\/www.hiro-clinic.or.jp\/nipt\/15q25-2-deletion-proximal-syndrome\/?lang=en&amp;utm_source=chatgpt.com\">\u30d2\u30ed\u30af\u30ea\u30cb\u30c3\u30af<\/a>)<\/li>\n<\/ol>\n\n\n\n<style>\n.entry-content li {\n  text-indent: -1rem 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