{"id":597,"date":"2013-11-27T20:14:54","date_gmt":"2013-11-27T20:14:54","guid":{"rendered":"https:\/\/blogs.bmj.com\/jmg\/?p=597"},"modified":"2026-02-25T19:56:42","modified_gmt":"2026-02-25T19:56:42","slug":"correlation-between-fmr1-expression-and-clinical-phenotype-in-discordant-dichorionic-diamniotic-monozygotic-twin-sisters-with-the-fragile-x-mutation","status":"publish","type":"post","link":"https:\/\/blogs.bmj.com\/jmg\/2013\/11\/27\/correlation-between-fmr1-expression-and-clinical-phenotype-in-discordant-dichorionic-diamniotic-monozygotic-twin-sisters-with-the-fragile-x-mutation\/","title":{"rendered":"Correlation between FMR1 expression and clinical phenotype in discordant dichorionic\u2013diamniotic monozygotic twin sisters with the fragile x mutation (Contributed by Professor Ranhui Duan)"},"content":{"rendered":"<p>The clinical phenotypes of females with fragile X full mutations vary drastically. The authors describe a pair of discordant monozygotic female twins (dichorionic\u2013diamniotic type) with full mutation and the degrees of their phenotypic discordance regarding physical, psychiatric and behavioural features were quantified in a series of neuropsychological test. This paper identified <em>FMR1<\/em> expression in hair-root, which reflected <em>FMRP<\/em> expression in the brain is the most crucial factor that influences disease phenotype. The 6-fold variation in hair-root <em>FMR1<\/em> expression may account for the disparate phenotypes in IQ, cognition and social capability between the twins.\u00a0 Additionally, considering the (Di\u2013Di type) twinning and different CGG repeat sizes, CGG expansion should occur before splitting at day 3 of gestation. (<a href=\"http:\/\/jmg.bmj.com\/content\/early\/2013\/11\/27\/jmedgenet-2013-101978\">http:\/\/jmg.bmj.com\/content\/early\/2013\/11\/27\/jmedgenet-2013-101978<\/a> )<\/p>\n<p><a href=\"https:\/\/blogs.bmj.com\/jmg\/files\/2013\/11\/fig-1H.jpg\"><img loading=\"lazy\" decoding=\"async\" class=\"alignnone size-medium wp-image-598\" src=\"https:\/\/blogs.bmj.com\/jmg\/files\/2013\/11\/fig-1H-300x166.jpg\" alt=\"fig 1H\" width=\"300\" height=\"166\" \/><\/a><!--TrendMD v2.4.8--><\/p>\n","protected":false},"excerpt":{"rendered":"<p>The clinical phenotypes of females with fragile X full mutations vary drastically. The authors describe a pair of discordant monozygotic female twins (dichorionic\u2013diamniotic type) with full mutation and the degrees of their phenotypic discordance regarding physical, psychiatric and behavioural features were quantified in a series of neuropsychological test. This paper identified FMR1 expression in hair-root, [&#8230;]<\/p>\n<p><a class=\"btn btn-secondary understrap-read-more-link\" href=\"https:\/\/blogs.bmj.com\/jmg\/2013\/11\/27\/correlation-between-fmr1-expression-and-clinical-phenotype-in-discordant-dichorionic-diamniotic-monozygotic-twin-sisters-with-the-fragile-x-mutation\/\">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-597","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>Correlation between FMR1 expression and clinical phenotype in discordant dichorionic\u2013diamniotic monozygotic twin sisters with the fragile x mutation (Contributed by Professor Ranhui Duan) - 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\/2013\/11\/27\/correlation-between-fmr1-expression-and-clinical-phenotype-in-discordant-dichorionic-diamniotic-monozygotic-twin-sisters-with-the-fragile-x-mutation\/\" \/>\n<meta property=\"og:locale\" content=\"en_US\" \/>\n<meta property=\"og:type\" content=\"article\" \/>\n<meta property=\"og:title\" content=\"Correlation between FMR1 expression and clinical phenotype in discordant dichorionic\u2013diamniotic monozygotic twin sisters with the fragile x mutation (Contributed by Professor Ranhui Duan) - JMG Contact blog\" \/>\n<meta property=\"og:description\" content=\"The clinical phenotypes of females with fragile X full mutations vary drastically. The authors describe a pair of discordant monozygotic female twins (dichorionic\u2013diamniotic type) with full mutation and the degrees of their phenotypic discordance regarding physical, psychiatric and behavioural features were quantified in a series of neuropsychological test. 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