Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211.
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.
Warburg
M
M
Pediatric Ophthalmology and Handicap, Gentofte Hospital, Denmark.
Sjö
O
O
Tranebjaerg
L
L
Fledelius
H C
HC
D000015:Abnormalities, Multiple / Q000235:genetics; D000293:Adolescent; D000328:Adult; D002648:Child; D002872:Chromosome Deletion; D002874:Chromosome Mapping; D002887:Chromosomes, Human, Pair 18; D004596:Electroretinography; D005260:Female; D006801:Humans; D008607:Intellectual Disability / Q000235:genetics; D008297:Male; D010786:Photoreceptor Cells / Q000503:physiopathology*; D012174:Retinitis Pigmentosa / Q000235:genetics* / Q000503:physiopathology