Article
FMR1 allele size distribution in 35,000 males and females: a comparison of developmental delay and general population cohorts.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Dec 2018
Kraan Claudine M, Bui Quang M, Field Mike, Archibald Alison D, Metcalfe Sylvia A, Christie Louise M, Bennetts Bruce H, Oertel Ralph, Smith Melanie J, du Sart Desiree, Bruno Damien, Wotton Tiffany L, Amor David J, Francis David, Godler David E
Abstract excerpt
PURPOSE: Developmental delay phenotypes have been associated with FMR1 premutation (PM: 55-200 CGG repeats) and "gray zone" (GZ: 45-54 CGG repeats) alleles. However, these associations have not been confirmed by larger studies to be useful in pediatric diagnostic or screening settings. METHODS: This study determined the prevalence of PM and GZ alleles in two independent cohorts of 19,076 pediatric referrals to...
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