Eye findings in interstitial deletion of band q12 of chromosome 5.
An 18-month-old girl presented with the ocular findings of severe ptosis of the right upper lid, astigmatism and the Adduction Fixation Preference. She also had psychomotor retardation and multiple congenital anomalies. The karyotype revealed an interstitial deletion of the long arm of chromosome 5 at q 12. This is the first description of the ophthalmological findings in this chromosomal disorder.
D001251:Astigmatism / Q000235:genetics; D001763:Blepharoptosis / Q000235:genetics; D002871:Chromosome Banding; D002872:Chromosome Deletion; D002905:Chromosomes, Human, 4-5; D005124:Eye Abnormalities; D005260:Female; D006801:Humans; D007223:Infant; D007621:Karyotyping; D008214:Lymphocytes / Q000166:cytology