{"id":376,"date":"2012-10-05T20:00:28","date_gmt":"2012-10-05T20:00:28","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=376"},"modified":"2026-02-25T20:30:59","modified_gmt":"2026-02-25T20:30:59","slug":"co-occurrence-of-recurrent-duplications-of-the-digeorge-syndrome-region-on-both-chromosome-22-homologues-due-to-inherited-and-de-novo-events","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/05\/co-occurrence-of-recurrent-duplications-of-the-digeorge-syndrome-region-on-both-chromosome-22-homologues-due-to-inherited-and-de-novo-events\/","title":{"rendered":"Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events (Contributed by Dr. Weimin Bi)"},"content":{"rendered":"<p>Chromosome 22q11.2 duplication syndrome is associated with developmental delay and various birth defects and results when an individual has an extra piece (three copies total) of chromosomal material from 22q11.2. We describe five individuals who have an extra copy of this segment from 22q11.2 on both chromosome 22s (four copies total). The features seen in these individuals are similar to those seen in individuals with three copies. Although most of the individuals inherited the extra copies from both parents, one individual inherited an extra copy from the mother and the other extra copy occurred as a new (<em>de novo<\/em>) event in the father\u2019s germ cell. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2012\/10\/04\/jmedgenet-2012-101002\">http:\/\/jmg.bmj.com\/content\/early\/2012\/10\/04\/jmedgenet-2012-101002<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Chromosome 22q11.2 duplication syndrome is associated with developmental delay and various birth defects and results when an individual has an extra piece (three copies total) of chromosomal material from 22q11.2. We describe five individuals who have an extra copy of this segment from 22q11.2 on both chromosome 22s (four copies total). The features seen in [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/05\/co-occurrence-of-recurrent-duplications-of-the-digeorge-syndrome-region-on-both-chromosome-22-homologues-due-to-inherited-and-de-novo-events\/\">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-376","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>Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events (Contributed by Dr. Weimin Bi) - 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\/2012\/10\/05\/co-occurrence-of-recurrent-duplications-of-the-digeorge-syndrome-region-on-both-chromosome-22-homologues-due-to-inherited-and-de-novo-events\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events (Contributed by Dr. Weimin Bi) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"Chromosome 22q11.2 duplication syndrome is associated with developmental delay and various birth defects and results when an individual has an extra piece (three copies total) of chromosomal material from 22q11.2. We describe five individuals who have an extra copy of this segment from 22q11.2 on both chromosome 22s (four copies total). The features seen in [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2012\/10\/05\/co-occurrence-of-recurrent-duplications-of-the-digeorge-syndrome-region-on-both-chromosome-22-homologues-due-to-inherited-and-de-novo-events\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2012-10-05T20:00:28+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-25T20:30:59+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\\\/2012\\\/10\\\/05\\\/co-occurrence-of-recurrent-duplications-of-the-digeorge-syndrome-region-on-both-chromosome-22-homologues-due-to-inherited-and-de-novo-events\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/05\\\/co-occurrence-of-recurrent-duplications-of-the-digeorge-syndrome-region-on-both-chromosome-22-homologues-due-to-inherited-and-de-novo-events\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events (Contributed by Dr. Weimin Bi)\",\"datePublished\":\"2012-10-05T20:00:28+00:00\",\"dateModified\":\"2026-02-25T20:30:59+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/05\\\/co-occurrence-of-recurrent-duplications-of-the-digeorge-syndrome-region-on-both-chromosome-22-homologues-due-to-inherited-and-de-novo-events\\\/\"},\"wordCount\":139,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/05\\\/co-occurrence-of-recurrent-duplications-of-the-digeorge-syndrome-region-on-both-chromosome-22-homologues-due-to-inherited-and-de-novo-events\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/05\\\/co-occurrence-of-recurrent-duplications-of-the-digeorge-syndrome-region-on-both-chromosome-22-homologues-due-to-inherited-and-de-novo-events\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2012\\\/10\\\/05\\\/co-occurrence-of-recurrent-duplications-of-the-digeorge-syndrome-region-on-both-chromosome-22-homologues-due-to-inherited-and-de-novo-events\\\/\",\"name\":\"Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events (Contributed by Dr. Weimin Bi) - 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