{"id":79,"date":"2011-01-08T23:58:41","date_gmt":"2011-01-08T23:58:41","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/2011\/01\/08\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\/"},"modified":"2026-02-22T00:46:02","modified_gmt":"2026-02-22T00:46:02","slug":"chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2011\/01\/08\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\/","title":{"rendered":"Chromosome fragility in Fanconi anemia  patients: diagnostic implications and clinical impact (Contributed by Professor Jordi Surrall\u00e9s)"},"content":{"rendered":"<p>Fanconi anemia (FA) is a rare syndrome characterized by bone marrow failure, malformations, and cancer predisposition. Chromosome fragility induced by DNA interstrand crosslink (ICL)-inducing drugs is the gold standard diagnostic test for FA. We present data from 198 chromosome fragility tests and propose a new chromosome fragility index that provides a cut-off diagnostic level to unambiguously distinguish FA patients. Our data reveal a correlation between malformations and sensitivity to ICLs suggesting that genome instability during embryo development may be related to FA malformations. Finally, chromosome fragility does not correlate with the age of onset of the blood disease, indicating that chromosome fragility has no prognostic value in FA. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2011\/01\/06\/jmg.2010.084210?papetoc\">http:\/\/jmg.bmj.com\/content\/early\/2011\/01\/06\/jmg.2010.084210?papetoc<\/a>= )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Fanconi anemia (FA) is a rare syndrome characterized by bone marrow failure, malformations, and cancer predisposition. Chromosome fragility induced by DNA interstrand crosslink (ICL)-inducing drugs is the gold standard diagnostic test for FA. We present data from 198 chromosome fragility tests and propose a new chromosome fragility index that provides a cut-off diagnostic level to [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2011\/01\/08\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\/\">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-79","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.4 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Chromosome fragility in Fanconi anemia patients: diagnostic implications and clinical impact (Contributed by Professor Jordi Surrall\u00e9s) - 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\/01\/08\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Chromosome fragility in Fanconi anemia patients: diagnostic implications and clinical impact (Contributed by Professor Jordi Surrall\u00e9s) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Fanconi anemia (FA) is a rare syndrome characterized by bone marrow failure, malformations, and cancer predisposition. Chromosome fragility induced by DNA interstrand crosslink (ICL)-inducing drugs is the gold standard diagnostic test for FA. We present data from 198 chromosome fragility tests and propose a new chromosome fragility index that provides a cut-off diagnostic level to [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2011\/01\/08\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2011-01-08T23:58:41+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-22T00:46:02+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\\\/01\\\/08\\\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/01\\\/08\\\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Chromosome fragility in Fanconi anemia patients: diagnostic implications and clinical impact (Contributed by Professor Jordi Surrall\u00e9s)\",\"datePublished\":\"2011-01-08T23:58:41+00:00\",\"dateModified\":\"2026-02-22T00:46:02+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/01\\\/08\\\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\\\/\"},\"wordCount\":133,\"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\\\/01\\\/08\\\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/01\\\/08\\\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/01\\\/08\\\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\\\/\",\"name\":\"Chromosome fragility in Fanconi anemia patients: diagnostic implications and clinical impact (Contributed by Professor Jordi Surrall\u00e9s) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2011-01-08T23:58:41+00:00\",\"dateModified\":\"2026-02-22T00:46:02+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/01\\\/08\\\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/01\\\/08\\\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2011\\\/01\\\/08\\\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Chromosome fragility in Fanconi anemia patients: diagnostic implications and clinical impact (Contributed by Professor Jordi Surrall\u00e9s)\"}]},{\"@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":"Chromosome fragility in Fanconi anemia patients: diagnostic implications and clinical impact (Contributed by Professor Jordi Surrall\u00e9s) - 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\/01\/08\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\/","og_locale":"en_US","og_type":"article","og_title":"Chromosome fragility in Fanconi anemia patients: diagnostic implications and clinical impact (Contributed by Professor Jordi Surrall\u00e9s) - JMG Contact blog","og_description":"Fanconi anemia (FA) is a rare syndrome characterized by bone marrow failure, malformations, and cancer predisposition. Chromosome fragility induced by DNA interstrand crosslink (ICL)-inducing drugs is the gold standard diagnostic test for FA. We present data from 198 chromosome fragility tests and propose a new chromosome fragility index that provides a cut-off diagnostic level to [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2011\/01\/08\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\/","og_site_name":"JMG Contact blog","article_published_time":"2011-01-08T23:58:41+00:00","article_modified_time":"2026-02-22T00:46:02+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\/01\/08\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/01\/08\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Chromosome fragility in Fanconi anemia patients: diagnostic implications and clinical impact (Contributed by Professor Jordi Surrall\u00e9s)","datePublished":"2011-01-08T23:58:41+00:00","dateModified":"2026-02-22T00:46:02+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/01\/08\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\/"},"wordCount":133,"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\/01\/08\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/01\/08\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\/","url":"https:\/\/blogs.bmj.com\/jmg\/2011\/01\/08\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\/","name":"Chromosome fragility in Fanconi anemia patients: diagnostic implications and clinical impact (Contributed by Professor Jordi Surrall\u00e9s) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2011-01-08T23:58:41+00:00","dateModified":"2026-02-22T00:46:02+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/01\/08\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2011\/01\/08\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2011\/01\/08\/chromosome-fragility-in-fanconi-anemia-patients-diagnostic-implications-and-clinical-impact\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Chromosome fragility in Fanconi anemia patients: diagnostic implications and clinical impact (Contributed by Professor Jordi Surrall\u00e9s)"}]},{"@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\/79","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=79"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/79\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=79"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=79"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=79"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}