Ocular findings in a patient with deletion short arm chromosome 5 (cri du chat) and ring chromosome 14.
The general and ocular signs in patients with deletion of the short arm of chromosome 5 (cri du chat) and ring chromosome 14 have been reported previously in the literature. Ophthalmic changes recorded in the latter anomaly are scanty. We describe a patient with the combined chromosomal anomaly--a deletion of part of the short arm of chromosome 5 and a ring chromosome 14 which hitherto has not been reported.
D002648:Child; D002869:Chromosome Aberrations; D002872:Chromosome Deletion; D002883:Chromosomes, Human, Pair 14 / Q000648:ultrastructure*; D002895:Chromosomes, Human, Pair 5 / Q000648:ultrastructure*; D003410:Cri-du-Chat Syndrome / Q000150:complications*; D004774:Entropion / Q000150:complications; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D006956:Hyperopia / Q000150:complications; D007621:Karyotyping; D012303:Ring Chromosomes; D014786:Vision Disorders / Q000150:complications*