Bilateral optic atrophy associated with abnormality of chromosome No. 2.
A one year old female infant with mental and motor retardation and bilateral optic atrophy in association with pericentric inversion of chromosome No. 2 is described.
D002869:Chromosome Aberrations; D002900:Chromosomes, Human, 1-3; D005260:Female; D006801:Humans; D007223:Infant; D009896:Optic Atrophy / Q000235:genetics*