Author:

Keywords:

Chromosomes, Human, Pair 21, Humans, Infant, Newborn, Lens Subluxation, Male, Mosaicism, Optic Nerve, Ring Chromosomes, Science & Technology, Life Sciences & Biomedicine, Genetics & Heredity, CHROMOSOME 21, RING CHROMOSOME 21, MCA MR SYNDROME, LENS DISLOCATION, OPTIC NERVE HYPOPLASIA

Abstract:

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.