Characteristic cardiovascular anomalies of XO Turner syndrome, XX and XY phenotype and XO/XX Turner mosaic

Forty patients with unequivocal Turner stigmata and cardiovascular disease were studied. Every patient had complete documentation of both his cardiovascular disease and chromosomal constitution by physical examination, electrocardiogram, roentgenogram and cardiac catheterization, chromosome preparation and buccal mucosal smear. Two clusters of cardiovascular lesions were observed. Coarctation of the aorta occurred in 11 of 16 patients with XO Turner syndrome but not in any of the patients with Turner phenotype or Turner mosaic constitution. Pulmonic stenosis was present in 21 of 24 patients with Turner phenotype and Turner mosaic constitution but was not encountered in those with XO Turner syndrome.