{"id":1606,"date":"2021-02-17T16:12:39","date_gmt":"2021-02-17T16:12:39","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=1606"},"modified":"2026-02-23T23:06:17","modified_gmt":"2026-02-23T23:06:17","slug":"preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2021\/02\/17\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\/","title":{"rendered":"Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome (Contributed by Dr. David Monk)"},"content":{"rendered":"

We inherit 23 chromosomes from each of our parents which contain our DNA and our genes. Some genes can be turn \u201con\u201d (expressed) or \u201coff\u201d resulting in expression from the maternally or paternally inherited copy, but not both. This process is called Genomic Imprinting. Here we describe a family with a microdeletion within an imprinted domain on chromosome 14q32 that results in either Kagami-Ogata syndrome or Temple syndrome depending on parental transmission. To avoid inheriting the deletion from the carrier mother, embryos generated by in vitro fertilization were screened to identify unaffected embryos for transfer, resulting in a health new born baby. (https:\/\/jmg.bmj.com\/content\/early\/2021\/02\/11\/jmedgenet-2020-107433<\/a> )<\/p>\n","protected":false},"excerpt":{"rendered":"

We inherit 23 chromosomes from each of our parents which contain our DNA and our genes. Some genes can be turn \u201con\u201d (expressed) or \u201coff\u201d resulting in expression from the maternally or paternally inherited copy, but not both. This process is called Genomic Imprinting. Here we describe a family with a microdeletion within an imprinted […]<\/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-1606","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"yoast_head":"\nPreimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome (Contributed by Dr. David Monk) - 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\/2021\/02\/17\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome (Contributed by Dr. David Monk) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"We inherit 23 chromosomes from each of our parents which contain our DNA and our genes. Some genes can be turn \u201con\u201d (expressed) or \u201coff\u201d resulting in expression from the maternally or paternally inherited copy, but not both. This process is called Genomic Imprinting. Here we describe a family with a microdeletion within an imprinted [...]Read More...\" \/>\n<meta property=\"og:url\" content=\"https:\/\/blogs.bmj.com\/jmg\/2021\/02\/17\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\/\" \/>\n<meta property=\"og:site_name\" content=\"JMG Contact blog\" \/>\n<meta property=\"article:published_time\" content=\"2021-02-17T16:12:39+00:00\" \/>\n<meta property=\"article:modified_time\" content=\"2026-02-23T23:06:17+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\\\/2021\\\/02\\\/17\\\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\\\/#article\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/02\\\/17\\\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\\\/\"},\"author\":{\"name\":\"hqqu\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#\\\/schema\\\/person\\\/be0250f8d5b52412c3e7c222dabd591b\"},\"headline\":\"Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome (Contributed by Dr. David Monk)\",\"datePublished\":\"2021-02-17T16:12:39+00:00\",\"dateModified\":\"2026-02-23T23:06:17+00:00\",\"mainEntityOfPage\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/02\\\/17\\\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\\\/\"},\"wordCount\":131,\"commentCount\":0,\"publisher\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#organization\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"CommentAction\",\"name\":\"Comment\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/02\\\/17\\\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\\\/#respond\"]}]},{\"@type\":\"WebPage\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/02\\\/17\\\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\\\/\",\"url\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/02\\\/17\\\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\\\/\",\"name\":\"Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome (Contributed by Dr. David Monk) - JMG Contact blog\",\"isPartOf\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/#website\"},\"datePublished\":\"2021-02-17T16:12:39+00:00\",\"dateModified\":\"2026-02-23T23:06:17+00:00\",\"breadcrumb\":{\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/02\\\/17\\\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\\\/#breadcrumb\"},\"inLanguage\":\"en-US\",\"potentialAction\":[{\"@type\":\"ReadAction\",\"target\":[\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/02\\\/17\\\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\\\/\"]}]},{\"@type\":\"BreadcrumbList\",\"@id\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/2021\\\/02\\\/17\\\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\\\/#breadcrumb\",\"itemListElement\":[{\"@type\":\"ListItem\",\"position\":1,\"name\":\"Home\",\"item\":\"https:\\\/\\\/blogs.bmj.com\\\/jmg\\\/\"},{\"@type\":\"ListItem\",\"position\":2,\"name\":\"Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome (Contributed by Dr. David Monk)\"}]},{\"@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":"Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome (Contributed by Dr. David Monk) - 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\/2021\/02\/17\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\/","og_locale":"en_US","og_type":"article","og_title":"Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome (Contributed by Dr. David Monk) - JMG Contact blog","og_description":"We inherit 23 chromosomes from each of our parents which contain our DNA and our genes. Some genes can be turn \u201con\u201d (expressed) or \u201coff\u201d resulting in expression from the maternally or paternally inherited copy, but not both. This process is called Genomic Imprinting. Here we describe a family with a microdeletion within an imprinted [...]Read More...","og_url":"https:\/\/blogs.bmj.com\/jmg\/2021\/02\/17\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\/","og_site_name":"JMG Contact blog","article_published_time":"2021-02-17T16:12:39+00:00","article_modified_time":"2026-02-23T23:06:17+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\/2021\/02\/17\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\/#article","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/02\/17\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\/"},"author":{"name":"hqqu","@id":"https:\/\/blogs.bmj.com\/jmg\/#\/schema\/person\/be0250f8d5b52412c3e7c222dabd591b"},"headline":"Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome (Contributed by Dr. David Monk)","datePublished":"2021-02-17T16:12:39+00:00","dateModified":"2026-02-23T23:06:17+00:00","mainEntityOfPage":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/02\/17\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\/"},"wordCount":131,"commentCount":0,"publisher":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#organization"},"inLanguage":"en-US","potentialAction":[{"@type":"CommentAction","name":"Comment","target":["https:\/\/blogs.bmj.com\/jmg\/2021\/02\/17\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\/#respond"]}]},{"@type":"WebPage","@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/02\/17\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\/","url":"https:\/\/blogs.bmj.com\/jmg\/2021\/02\/17\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\/","name":"Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome (Contributed by Dr. David Monk) - JMG Contact blog","isPartOf":{"@id":"https:\/\/blogs.bmj.com\/jmg\/#website"},"datePublished":"2021-02-17T16:12:39+00:00","dateModified":"2026-02-23T23:06:17+00:00","breadcrumb":{"@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/02\/17\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\/#breadcrumb"},"inLanguage":"en-US","potentialAction":[{"@type":"ReadAction","target":["https:\/\/blogs.bmj.com\/jmg\/2021\/02\/17\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\/"]}]},{"@type":"BreadcrumbList","@id":"https:\/\/blogs.bmj.com\/jmg\/2021\/02\/17\/preimplantation-genetic-testing-for-a-chr14q32-microdeletion-in-a-family-with-kagami-ogata-syndrome-and-temple-syndrome\/#breadcrumb","itemListElement":[{"@type":"ListItem","position":1,"name":"Home","item":"https:\/\/blogs.bmj.com\/jmg\/"},{"@type":"ListItem","position":2,"name":"Preimplantation genetic testing for a chr14q32 microdeletion in a family with Kagami-Ogata syndrome and Temple syndrome (Contributed by Dr. David Monk)"}]},{"@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\/1606","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=1606"}],"version-history":[{"count":0,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/1606\/revisions"}],"wp:attachment":[{"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=1606"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=1606"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=1606"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}