{"id":108,"date":"2011-02-26T23:07:12","date_gmt":"2011-02-26T23:07:12","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=108"},"modified":"2026-02-22T00:38:47","modified_gmt":"2026-02-22T00:38:47","slug":"a-4-6kb-genomic-duplication-on-20p12-2-12-3-is-associated-with-brachydactyly-type-a2-in-a-chinese-family","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2011\/02\/26\/a-4-6kb-genomic-duplication-on-20p12-2-12-3-is-associated-with-brachydactyly-type-a2-in-a-chinese-family\/","title":{"rendered":"A 4.6kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family (Contributed by Professor Yiming Wang)"},"content":{"rendered":"<p>Brachydactyly is a hereditary disease characterized by malformation of finger(s)\/toe(s). A group of German scientists reported that duplication on Chromosome 20 is associated with the condition. We have studied this disorder in a Chinese family. We found that a 4.6kb duplication, smaller than the German group reported, on\u00a0Chromosome 20, appeared in all the brachydactyly patients, but is absent in the unaffected family members and in 100 unrelated normal subjects. This fragment is located downstream of <em>BMP2<\/em>, the gene that regulates bone formation. Our further study showed that the duplication could affect the expression of the gene. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/02\/26\/jmg.2010.084814.abstract?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/02\/26\/jmg.2010.084814.abstract?papetoc<\/a>= )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Brachydactyly is a hereditary disease characterized by malformation of finger(s)\/toe(s). A group of German scientists reported that duplication on Chromosome 20 is associated with the condition. We have studied this disorder in a Chinese family. We found that a 4.6kb duplication, smaller than the German group reported, on\u00a0Chromosome 20, appeared in all the brachydactyly patients, [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/02\/26\/a-4-6kb-genomic-duplication-on-20p12-2-12-3-is-associated-with-brachydactyly-type-a2-in-a-chinese-family\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":123,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"footnotes":""},"categories":[1],"tags":[],"class_list":["post-108","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.6 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>A 4.6kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family (Contributed by Professor Yiming Wang) - JMG Contact blog<\/title>\n<meta name=\"robots\" content=\"index, follow, max-snippet:-1, max-image-preview:large, max-video-preview:-1\" \/>\n<link rel=\"canonical\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/02\/26\/a-4-6kb-genomic-duplication-on-20p12-2-12-3-is-associated-with-brachydactyly-type-a2-in-a-chinese-family\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"A 4.6kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family (Contributed by Professor Yiming Wang) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Brachydactyly is a hereditary disease characterized by malformation of finger(s)\/toe(s). A group of German scientists reported that duplication on Chromosome 20 is associated with the condition. We have studied this disorder in a Chinese family. We found that a 4.6kb duplication, smaller than the German group reported, on\u00a0Chromosome 20, appeared in all the brachydactyly patients, [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2011\/02\/26\/a-4-6kb-genomic-duplication-on-20p12-2-12-3-is-associated-with-brachydactyly-type-a2-in-a-chinese-family\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2011-02-26T23:07:12+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T00:38:47+00:00\" \/>\n<meta name=\"author\" content=\"hqqu\" \/>\n<meta name=\"twitter:card\" content=\"summary_large_image\" \/>\n<meta name=\"twitter:creator\" content=\"@HuiQiQu\" \/>\n<meta name=\"twitter:label1\" content=\"Written by\" \/>\n\t<meta name=\"twitter:data1\" content=\"hqqu\" \/>\n\t<meta name=\"twitter:label2\" content=\"Est. reading time\" \/>\n\t<meta name=\"twitter:data2\" content=\"1 minute\" \/>\n<script type=\"application\/ld+json\" class=\"yoast-schema-graph\">{\"@context\":\"https:\\\/\\\/schema.org\",\"@graph\":[{\"@type\":\"Article\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/02\\\/26\\\/a-4-6kb-genomic-duplication-on-20p12-2-12-3-is-associated-with-brachydactyly-type-a2-in-a-chinese-family\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/02\\\/26\\\/a-4-6kb-genomic-duplication-on-20p12-2-12-3-is-associated-with-brachydactyly-type-a2-in-a-chinese-family\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"A 4.6kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family (Contributed by Professor Yiming Wang)\",\"datePublished\":\"2011-02-26T23:07:12+00:00\",\"dateModified\":\"2026-02-22T00:38:47+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/02\\\/26\\\/a-4-6kb-genomic-duplication-on-20p12-2-12-3-is-associated-with-brachydactyly-type-a2-in-a-chinese-family\\\/\"},\"wordCount\":128,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/02\\\/26\\\/a-4-6kb-genomic-duplication-on-20p12-2-12-3-is-associated-with-brachydactyly-type-a2-in-a-chinese-family\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/02\\\/26\\\/a-4-6kb-genomic-duplication-on-20p12-2-12-3-is-associated-with-brachydactyly-type-a2-in-a-chinese-family\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/02\\\/26\\\/a-4-6kb-genomic-duplication-on-20p12-2-12-3-is-associated-with-brachydactyly-type-a2-in-a-chinese-family\\\/\",\"name\":\"A 4.6kb genomic duplication on 20p12.2-12.3 is associated with brachydactyly type A2 in a Chinese family (Contributed by Professor Yiming Wang) - 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