Deletion mapping of a retinal cone‐rod dystrophy: Assignment to 18q211
- 6 June 1991
- journal article
- case report
- Published by Wiley in American Journal of Medical Genetics
- Vol. 39 (3) , 288-293
- https://doi.org/10.1002/ajmg.1320390309
Abstract
Deletion of 18q211 was observed in a mentally retarded young man with electrophysiologically demonstrated cone‐rod dystrophy, present since childhood. He had hypogonadism and a central postsynaptic hearing impairment. This is the first case of a chromosome deletion in a patient with a cone‐rod dystrophy. Three patients with more distal deletions on chromosome 18 did not present retinal dystrophies. We suggest that one of the loci for cone‐rod dystrophy may be located on chromosome 18 at q211‐213. Reports of similar findings will be necessary for confirmation of this assumption.Keywords
This publication has 8 references indexed in Scilit:
- Chromosome 6q deletions: A report of two additional cases and a review of the literatureAmerican Journal of Medical Genetics, 1990
- Autosomal dominant retinitis pigmentosa (ADRP): Localization of an ADRP gene to the long arm of chromosome 3Genomics, 1989
- Coloboma and microphthalmos in chromosomal aberrations. Chromosomal aberrations and neural crest cell developmental fieldOphthalmic Paediatrics and Genetics, 1987
- Retinal cone dysfunction and mental retardation associated with a de novo balanced translocation 1;6(q44;q27)Ophthalmic Paediatrics and Genetics, 1986
- OPHTHALMIC CHANGES FROM AGE OF 10 TO 18 YEARSActa Ophthalmologica, 1982
- Chromosomes in the Cornelia de Lange syndromeHuman Genetics, 1981
- THE PREVALENCE OF REFRACTIVE AND OCULAR ANOMALIES AMONG 1242 INSTITUTIONALIZED MENTALLY RETARDED PERSONSOptometry and Vision Science, 1980
- Electrical activity of the eye in high myopia.British Journal of Ophthalmology, 1966