Summary
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.
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References
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Howard, P.J., Clark, D. & Dearlove, J. Retinal/macular pigmentation in conjunction with ring 14 chromosome. Hum Genet 80, 140–142 (1988). https://doi.org/10.1007/BF00702856
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DOI: https://doi.org/10.1007/BF00702856