An 11-year-old boy with mosaic ring chromosome 6 and dilated aortic root.

Autosomal ring chromosomes are rare abnormalities that are inherently unstable. Children with ring chromosome 6 have a wide range of intellectual functioning and congenital anomalies. Cardiac lesions are rarely reported with this chromosome abnormality. We report on a 11-year-old boy with mosaic ring chromosome 6 and a dilated aortic root.