Mosaic Turner syndrome shows reduced phenotypic penetrance in an adult population study compared to clinically ascertained cases
Marcus A. Tuke, Katherine S. Ruth, Andrew R. Wood, Robin N. Beaumont, Jessica Tyrrell, Samuel E. Jones, Hanieh Yaghootkar, Claire Turner, Mollie E. Donohoe, Antonia M. Brooke, Morag N. Collinson, Rachel M. Freathy, Michael N. Weedon, Timothy M. Frayling, Anna Murray
This study examines X chromosome aneuploidy in an adult population, finding reduced phenotypic penetrance in mosaic 45,X/46,XX cases compared to clinically ascertained cases.
Genetics in Medicine · Sep 3, 2018Peer-reviewedGenetics