Lens dislocation and optic nerve hypoplasia in ring chromosome 21 mosaicism

Data on the physical and cognitive development of patients with chromosomal aberrations are scarce. In this report the authors present data on the longterm evolution in a boy with 45, XY,-21/46, XY, r(21) mosaicism, from birth up to the age of 14 years. Ophthalmological examination revealed lens dislocation and optic nerve hypoplasia.