Tetralogy of Fallot with pulmonic atresia with cyclic occlusion of an associated aortic sinus of Valsalva-pulmonary artery window.

A first case of an unusual aortopulmonary window with tetralogy of Fallot associated with pulmonary atresia is presented. The aortopulmonary window was at the aortic sinus of Valsalva. The left aortic leaflet prevented pulmonary hypertension by occluding the window in systole.

A novel deletion causing (epsilon gamma delta beta) degrees thalassaemia in a Chilean family.

We describe a novel deletion causing (epsilongammadeltabeta) degrees thalassaemia segregating in three generations of a Chilean family of Spanish descent. Heterozygotes for the deletion were all affected by neonatal haemolytic anaemia. The deletion of 152,569 bp extends from 77 kb upstream of the epsilon gene to 31 kb downstream of the beta gene, and includes the entire beta-globin gene cluster and two upstream olfactory receptor genes.