{"id":565,"date":"2013-07-03T18:46:28","date_gmt":"2013-07-03T18:46:28","guid":{"rendered":"http:\/\/stg-blogs.bmj.com\/jmg\/?p=565"},"modified":"2013-07-03T18:46:28","modified_gmt":"2013-07-03T18:46:28","slug":"bicuspid-aortic-valve-and-aortic-coarctation-are-linked-to-deletion-of-the-x-chromosome-short-arm-in-turner-syndrome","status":"publish","type":"post","link":"http:\/\/stg-blogs.bmj.com\/jmg\/2013\/07\/03\/bicuspid-aortic-valve-and-aortic-coarctation-are-linked-to-deletion-of-the-x-chromosome-short-arm-in-turner-syndrome\/","title":{"rendered":"Bicuspid aortic valve and aortic coarctation are linked to deletion of the X chromosome short arm in Turner syndrome"},"content":{"rendered":"<p>Turner syndrome is caused by complete or partial absence of the 2<sup>nd<\/sup> X chromosome and affects about 1\/2500 females. To localize the region of the X chromosome responsible for congenital heart defects (CHD) in the syndrome, this study compared the prevalence of CHD in groups missing the entire 2<sup>nd<\/sup> X to those missing only the X chromosome short arm(Xp) or long arm(Xq). They showed that CHD are found in ~30% of girls missing the entire 2<sup>nd<\/sup> X and in 27% of those missing only the X short arm, but in none of those missing only the X long arm, proving that a gene involved in cardiac development is located on the X chromosome short arm. (By Dr Carolyn Bondy, <a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/07\/02\/jmedgenet-2013-101720\">http:\/\/jmg.bmj.com\/content\/early\/2013\/07\/02\/jmedgenet-2013-101720<\/a> )<!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>Turner syndrome is caused by complete or partial absence of the 2nd X chromosome and affects about 1\/2500 females. To localize the region of the X chromosome responsible for congenital heart defects (CHD) in the syndrome, this study compared the prevalence of CHD in groups missing the entire 2nd X to those missing only the [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"http:\/\/stg-blogs.bmj.com\/jmg\/2013\/07\/03\/bicuspid-aortic-valve-and-aortic-coarctation-are-linked-to-deletion-of-the-x-chromosome-short-arm-in-turner-syndrome\/\">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-565","post","type-post","status-publish","format-standard","hentry","category-uncategorized"],"jetpack_featured_media_url":"","jetpack_sharing_enabled":true,"_links":{"self":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/565","targetHints":{"allow":["GET"]}}],"collection":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts"}],"about":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/types\/post"}],"author":[{"embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/users\/1"}],"replies":[{"embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/comments?post=565"}],"version-history":[{"count":0,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/posts\/565\/revisions"}],"wp:attachment":[{"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/media?parent=565"}],"wp:term":[{"taxonomy":"category","embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/categories?post=565"},{"taxonomy":"post_tag","embeddable":true,"href":"http:\/\/stg-blogs.bmj.com\/jmg\/wp-json\/wp\/v2\/tags?post=565"}],"curies":[{"name":"wp","href":"https:\/\/api.w.org\/{rel}","templated":true}]}}