Retinal/macular pigmentation in conjunction with ring 14 chromosome.
A number of constant features can be ascribed to patients who have a ring 14 chromosome. Recent publications have described pigmentation of the retinal/macular area of the eye and suggested that it may also be a constant feature of the syndrome. We describe a patient who has a ring 14 with a terminal deletion but no retinal pigmentation and compare our case with other informative cases. We suggest that a region on chromosome 14 proximal to q32.2 may be involved in controlling these changes.
Howard
P J
PJ
Regional Cytogenetics Unit, Royal Liverpool Hospital, UK.
Clark
D
D
Dearlove
J
J
D002675:Child, Preschool; D002869:Chromosome Aberrations; D002883:Chromosomes, Human, Pair 14; D005260:Female; D005654:Fundus Oculi; D006801:Humans; D007621:Karyotyping; D008266:Macula Lutea; D012168:Retinal Pigments; D012303:Ring Chromosomes; D013577:Syndrome
D012168:Retinal Pigments