Cardiovascular pathology in males and females with 45,X/46,XY mosaicism
De Groote, Katya × Cools, Martine De Schepper, Jean Craen, Margarita François, Inge Devos, Daniel Carbonez, Karlien Eyskens, Benedicte De Wolf, Daniel #
Public Library of Sciene
PLoS One vol:8 issue:2 pages:e54977
The phenotype of 45,X/46,XY mosaicism is heterogeneous ranging from females with Turner syndrome (TS) to apparently normal males. Males with 45,X/46,XY frequently show stigmata typically associated with TS. We hypothesised that males with 45,X/46,XY have similar cardiovascular pathology as females with 45,X/46,XY.