Annales de Génétique
Publication date:
1994-01-01
Volume:
37
Pages:
150 -
Publisher:
Elsevier Science
Author:
Meire, FM
Fryns, Jean-Pierre
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.