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Retinal/macular pigmentation in conjunction with ring 14 chromosome
P J Howard1, D Clark, J Dearlove
1Regional Cytogenetics Unit, Royal Liverpool Hospital, UK.
Human Genetics
|October 1, 1988
Abstract:
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.