http:\/\/jmg.bmj.com\/content\/early\/2011\/10\/07\/jmedgenet-2011-100101.abstract?papetoc<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"Some patients presenting with symptoms resembling facioscapulohumeral dystrophy (FSHD) do not harbour the typical D4Z4 repeat contraction on chromosome 4q35. We investigated the genetic defect in 16 such patients and identified one patient carrying a complex rearrangement in the FSHD locus which could not be identified by standard analysis, one patient had somatic mosaicism for […]<\/p>\n
Read More…<\/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-209","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nPatients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity (Contributed by Dr. Sabrina SACCONI) - 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\/10\/08\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity (Contributed by Dr. Sabrina SACCONI) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Some patients presenting with symptoms resembling facioscapulohumeral dystrophy (FSHD) do not harbour the typical D4Z4 repeat contraction on chromosome 4q35. We investigated the genetic defect in 16 such patients and identified one patient carrying a complex rearrangement in the FSHD locus which could not be identified by standard analysis, one patient had somatic mosaicism for [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2011\/10\/08\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2011-10-08T18:43:33+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:52:27+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\\\/10\\\/08\\\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/10\\\/08\\\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity (Contributed by Dr. Sabrina SACCONI)\",\"datePublished\":\"2011-10-08T18:43:33+00:00\",\"dateModified\":\"2026-02-25T20:52:27+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/10\\\/08\\\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\\\/\"},\"wordCount\":130,\"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\\\/10\\\/08\\\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/10\\\/08\\\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/10\\\/08\\\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\\\/\",\"name\":\"Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity (Contributed by Dr. Sabrina SACCONI) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2011-10-08T18:43:33+00:00\",\"dateModified\":\"2026-02-25T20:52:27+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/10\\\/08\\\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/10\\\/08\\\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/10\\\/08\\\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity (Contributed by Dr. Sabrina SACCONI)\"}]},{\"@type\":\"WebSite\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"name\":\"JMG Contact blog\",\"description\":\"JMG Contact blog\",\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"potentialAction\":[{\"@type\":\"SearchAction\",\"target\":{\"@type\":\"EntryPoint\",\"urlTemplate\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/?s={search_term_string}\"},\"query-input\":{\"@type\":\"PropertyValueSpecification\",\"valueRequired\":true,\"valueName\":\"search_term_string\"}}],\"inLanguage\":\"en-US\"},{\"@type\":\"Organization\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\",\"name\":\"JMG Contact blog\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\",\"logo\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"contentUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2017\\\/10\\\/blog-logo-jmg.png\",\"width\":300,\"height\":34,\"caption\":\"JMG Contact blog\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/logo\\\/image\\\/\"}},{\"@type\":\"Person\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\",\"name\":\"hqqu\",\"image\":{\"@type\":\"ImageObject\",\"inLanguage\":\"en-US\",\"@id\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"url\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"contentUrl\":\"https:\\\/\\\/secure.gravatar.com\\\/avatar\\\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g\",\"caption\":\"hqqu\"},\"description\":\"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.\",\"sameAs\":[\"https:\\\/\\\/x.com\\\/HuiQiQu\"],\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/author\\\/hqiqu\\\/\"}]}<\/script>\n<!-- \/ Yoast SEO plugin. -->","yoast_head_json":{"title":"Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity (Contributed by Dr. Sabrina SACCONI) - JMG Contact blog","robots":{"index":"index","follow":"follow","max-snippet":"max-snippet:-1","max-image-preview":"max-image-preview:large","max-video-preview":"max-video-preview:-1"},"canonical":"https:\/\/blogs.bmj.com\/jmg\/2011\/10\/08\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\/","og_locale":"en_US","og_type":"article","og_title":"Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity (Contributed by Dr. Sabrina SACCONI) - JMG Contact blog","og_description":"Some patients presenting with symptoms resembling facioscapulohumeral dystrophy (FSHD) do not harbour the typical D4Z4 repeat contraction on chromosome 4q35. We investigated the genetic defect in 16 such patients and identified one patient carrying a complex rearrangement in the FSHD locus which could not be identified by standard analysis, one patient had somatic mosaicism for [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2011\/10\/08\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\/","og_site_name":"JMG Contact blog","article_published_time":"2011-10-08T18:43:33+00:00","article_modified_time":"2026-02-25T20:52:27+00:00","author":"hqqu","twitter_card":"summary_large_image","twitter_creator":"@HuiQiQu","twitter_misc":{"Written by":"hqqu","Est. reading time":"1 minute"},"schema":{"@context":"https:\/\/schema.org","@graph":[{"@type":"Article","@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/10\/08\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/10\/08\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity (Contributed by Dr. Sabrina SACCONI)","datePublished":"2011-10-08T18:43:33+00:00","dateModified":"2026-02-25T20:52:27+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/10\/08\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\/"},"wordCount":130,"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\/10\/08\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/10\/08\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\/","url":"https:\/\/blogs.bmj.com\/jmg\/2011\/10\/08\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\/","name":"Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity (Contributed by Dr. Sabrina SACCONI) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2011-10-08T18:43:33+00:00","dateModified":"2026-02-25T20:52:27+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/10\/08\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2011\/10\/08\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/10\/08\/patients-with-a-phenotype-consistent-with-facioscapulohumeral-muscular-dystrophy-display-genetic-and-epigenetic-heterogeneity\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Patients with a phenotype consistent with facioscapulohumeral muscular dystrophy display genetic and epigenetic heterogeneity (Contributed by Dr. Sabrina SACCONI)"}]},{"@type":"WebSite","@id":"https:\/\/blogs.bmj.com\/jmg\/#website","url":"https:\/\/blogs.bmj.com\/jmg\/","name":"JMG Contact blog","description":"JMG Contact blog","publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"potentialAction":[{"@type":"SearchAction","target":{"@type":"EntryPoint","urlTemplate":"https:\/\/blogs.bmj.com\/jmg\/?s={search_term_string}"},"query-input":{"@type":"PropertyValueSpecification","valueRequired":true,"valueName":"search_term_string"}}],"inLanguage":"en-US"},{"@type":"Organization","@id":"https:\/\/blogs.bmj.com\/jmg\/#organization","name":"JMG Contact blog","url":"https:\/\/blogs.bmj.com\/jmg\/","logo":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/","url":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","contentUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2017\/10\/blog-logo-jmg.png","width":300,"height":34,"caption":"JMG Contact blog"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/logo\/image\/"}},{"@type":"Person","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b","name":"hqqu","image":{"@type":"ImageObject","inLanguage":"en-US","@id":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","url":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","contentUrl":"https:\/\/secure.gravatar.com\/avatar\/920bc4e81500cde88def4bfd7775029cb154e422c5460b9cf80d5c47137d6f35?s=96&d=mm&r=g","caption":"hqqu"},"description":"Huiqi Qu has a background as a physician trained in internal medicine and a PhD in Experimental Medicine (Endocrinology). His research applies human genetics and multi-omics to complex and pediatric diseases, including GWAS, polygenic risk scores (PRS), single-cell transcriptomics, and integrative genomics to support precision medicine and clinical translation.","sameAs":["https:\/\/x.com\/HuiQiQu"],"url":"https:\/\/blogs.bmj.com\/jmg\/author\/hqiqu\/"}]}},"_links":{"self":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/209","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/123"}],"replies":[{"embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=209"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/209\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=209"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=209"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=209"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}