{"id":1088,"date":"2018-01-29T19:21:08","date_gmt":"2018-01-29T19:21:08","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1088"},"modified":"2026-02-24T16:01:22","modified_gmt":"2026-02-24T16:01:22","slug":"chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2018\/01\/29\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\/","title":{"rendered":"Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome) (Contributed by Dr. Maria Clara Bonaglia)"},"content":{"rendered":"<p>Ring chromosomes with a highly complex structure derived by chromoanasynthesis events have been so far reported in only in cancer. We show that a germline ring chromosome 22, detected in a child with a severe neurodevelopmental disorder, was in fact the product of a <em>de novo<\/em> catastrophic event producing the deletion of the distal 22q13 region containing<em> SHANK3<\/em> and the inversion and displaced order of eight fragments, three of them duplicated. The child\u2019s clinical features, that <em>a posteriori<\/em> could be framed within the Phelan-McDermid syndrome with additional cortical brain abnormalities and recurrent urticarial skin rashes, appear to be due to the global alteration of the topological chromatin organization rather than simply to the deletion or duplication of dosage-sensitive genes. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2018\/01\/28\/jmedgenet-2017-105125\">http:\/\/jmg.bmj.com\/content\/early\/2018\/01\/28\/jmedgenet-2017-105125<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/01\/Untitled.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-1089\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/01\/Untitled-300x106.jpg\" alt=\"\" width=\"300\" height=\"106\" srcset=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/01\/Untitled-300x106.jpg 300w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/01\/Untitled-768x273.jpg 768w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/01\/Untitled-1024x364.jpg 1024w, https:\/\/blogs.bmj.com\/jmg\/files\/2018\/01\/Untitled.jpg 1693w\" sizes=\"auto, (max-width: 300px) 100vw, 300px\" \/><\/a><\/p>\n<p>Different pathways leading to disease-causing germline ring chromosomes. In all cases the circular conformation was accompanied by the loss of both ends of the chromosome. Black, red and blue correspond respectively to: normal, deleted, and duplicated portions; in grey are normal copy regions in random order.<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Ring chromosomes with a highly complex structure derived by chromoanasynthesis events have been so far reported in only in cancer. We show that a germline ring chromosome 22, detected in a child with a severe neurodevelopmental disorder, was in fact the product of a de novo catastrophic event producing the deletion of the distal 22q13 [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2018\/01\/29\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\/\">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-1088","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"<!-- This site is optimized with the Yoast SEO plugin v27.5 - https:\/\/yoast.com\/product\/yoast-seo-wordpress\/ -->\n<title>Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome) (Contributed by Dr. Maria Clara Bonaglia) - 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\/2018\/01\/29\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome) (Contributed by Dr. Maria Clara Bonaglia) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Ring chromosomes with a highly complex structure derived by chromoanasynthesis events have been so far reported in only in cancer. We show that a germline ring chromosome 22, detected in a child with a severe neurodevelopmental disorder, was in fact the product of a de novo catastrophic event producing the deletion of the distal 22q13 [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2018\/01\/29\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2018-01-29T19:21:08+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-24T16:01:22+00:00\" \/>\n<meta property=\"og:image\" content=\"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/01\/Untitled.jpg\" \/>\n\t<meta property=\"og:image:width\" content=\"1693\" \/>\n\t<meta property=\"og:image:height\" content=\"601\" \/>\n\t<meta property=\"og:image:type\" content=\"image\/jpeg\" \/>\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\\\/2018\\\/01\\\/29\\\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/01\\\/29\\\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome) (Contributed by Dr. Maria Clara Bonaglia)\",\"datePublished\":\"2018-01-29T19:21:08+00:00\",\"dateModified\":\"2026-02-24T16:01:22+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/01\\\/29\\\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\\\/\"},\"wordCount\":195,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"image\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/01\\\/29\\\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\\\/#primaryimage\"},\"thumbnailUrl\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/files\\\/2018\\\/01\\\/Untitled-300x106.jpg\",\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/01\\\/29\\\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/01\\\/29\\\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2018\\\/01\\\/29\\\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\\\/\",\"name\":\"Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome) (Contributed by Dr. Maria Clara Bonaglia) - 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We show that a germline ring chromosome 22, detected in a child with a severe neurodevelopmental disorder, was in fact the product of a de novo catastrophic event producing the deletion of the distal 22q13 [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2018\/01\/29\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\/","og_site_name":"JMG Contact blog","article_published_time":"2018-01-29T19:21:08+00:00","article_modified_time":"2026-02-24T16:01:22+00:00","og_image":[{"width":1693,"height":601,"url":"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/01\/Untitled.jpg","type":"image\/jpeg"}],"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\/2018\/01\/29\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/01\/29\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome) (Contributed by Dr. Maria Clara Bonaglia)","datePublished":"2018-01-29T19:21:08+00:00","dateModified":"2026-02-24T16:01:22+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/01\/29\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\/"},"wordCount":195,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"image":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/01\/29\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\/#primaryimage"},"thumbnailUrl":"https:\/\/blogs.bmj.com\/jmg\/files\/2018\/01\/Untitled-300x106.jpg","inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2018\/01\/29\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2018\/01\/29\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\/","url":"https:\/\/blogs.bmj.com\/jmg\/2018\/01\/29\/chromothripsis-and-ring-chromosome-22-a-paradigm-of-genomic-complexity-in-the-phelan-mcdermid-syndrome-22q13-deletion-syndrome\/","name":"Chromothripsis and ring chromosome 22: a paradigm of genomic complexity in the Phelan-McDermid syndrome (22q13 deletion syndrome) (Contributed by Dr. Maria Clara Bonaglia) - 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