Retinal/macular pigmentation in conjunction with ring 14 chromosome
- 1 October 1988
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 80 (2) , 140-142
- https://doi.org/10.1007/bf00702856
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 delection 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.Keywords
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