Eye findings in partial trisomy 2q.
Two cases with mental retardation, kyphosis, microcephalus, typical facial features, and eye anomalies had a previously undescribed recombinant chromosome change with duplication 2(q34; qter) secondary to paternal inversion 2(pter; q34). Eye findings consisted of reduced vision, myopia, nystagmus, iris defects and fundus lesions. Deformed optic discs were found in both patients and the retinal nerve fiber layer was thinner than normal.
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002871:Chromosome Banding; D007446:Chromosome Inversion; D002900:Chromosomes, Human, 1-3; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008214:Lymphocytes / Q000166:cytology; D008297:Male; D014314:Trisomy