title: Retinal/macular pigmentation in conjunction with ring 14 chromosome.
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.
authors.affiliation: Regional Cytogenetics Unit, Royal Liverpool Hospital, UK.
authors.forename: P J
authors.initials: PJ
authors.lastname: Howard
authors.forename: D
authors.initials: D
authors.lastname: Clark
authors.forename: J
authors.initials: J
authors.lastname: Dearlove
mesh_terms: 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
chemical_list: D012168:Retinal Pigments