{"id":206,"date":"2011-10-08T18:41:20","date_gmt":"2011-10-08T18:41:20","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=206"},"modified":"2011-10-08T18:41:20","modified_gmt":"2011-10-08T18:41:20","slug":"int22h-1int22h-2-mediated-xq28-rearrangements-intellectual-disability-associated-with-duplications-and-in-utero-male-lethality-with-deletions","status":"publish","type":"post","link":"https:\/\/stg-blogs.bmj.com\/jmg\/2011\/10\/08\/int22h-1int22h-2-mediated-xq28-rearrangements-intellectual-disability-associated-with-duplications-and-in-utero-male-lethality-with-deletions\/","title":{"rendered":"Int22h-1\/int22h-2-mediated Xq28 rearrangements: intellectual disability associated with duplications and in utero male lethality with deletions"},"content":{"rendered":"<p>A novel microduplication in chromosome Xq28 was identified by comparative genomic hybridization in four cognitively impaired males who share behavioral abnormalities and characteristic facial features. These duplications occur as a result of unequal exchange between two homologous regions, <em>int22h-1<\/em> and <em>int22h-2<\/em>, which, in addition to <em>int22h-3<\/em>, are also responsible for inversions disrupting the <em>factor VIII<\/em> gene in hemophilia A. A reciprocal Xq28 deletion was also detected in a girl and her mother, who had two spontaneous miscarriages. This report suggests that <em>int22h-1\/int22h-2<\/em>-mediated Xq28 duplications are responsible for a novel X-linked intellectual disability syndrome, and that the reciprocal deletion may be lethal for males <em>in utero<\/em>. (By Ayman El-Hattab, M.D., F.A.A.P., <a href=\"http:\/\/jmg.bmj.com\/cgi\/content\/abstract\/jmedgenet-2011-100125v1?papetoc\">http:\/\/jmg.bmj.com\/cgi\/content\/abstract\/jmedgenet-2011-100125v1?papetoc<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>A novel microduplication in chromosome Xq28 was identified by comparative genomic hybridization in four cognitively impaired males who share behavioral abnormalities and characteristic facial features. These duplications occur as a result of unequal exchange between two homologous regions, int22h-1 and int22h-2, which, in addition to int22h-3, are also responsible for inversions disrupting the factor VIII [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/stg-blogs.bmj.com\/jmg\/2011\/10\/08\/int22h-1int22h-2-mediated-xq28-rearrangements-intellectual-disability-associated-with-duplications-and-in-utero-male-lethality-with-deletions\/\">Read More&#8230;<\/a><\/p>\n","protected":false},"author":1,"featured_media":0,"comment_status":"open","ping_status":"closed","sticky":false,"template":"","format":"standard","meta":{"_jetpack_memberships_contains_paid_content":false,"footnotes":""},"categories":[1],"tags":[],"class_list":["post-206","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/206","targetHints":{"allow":["GET"]}}],"collection":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=206"}],"version-history":[{"count":0,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/206\/revisions"}],"wp:attachment":[{"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=206"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=206"},{"taxonomy":"post_tag","embeddable":true,"href":"https:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=206"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}