Document Detail


Deletion mapping of a retinal cone-rod dystrophy: assignment to 18q211.
MedLine Citation:
PMID:  1867279     Owner:  NLM     Status:  MEDLINE    
Abstract/OtherAbstract:
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.
Authors:
M Warburg; O Sjö; L Tranebjaerg; H C Fledelius
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Publication Detail:
Type:  Case Reports; Journal Article; Research Support, Non-U.S. Gov't    
Journal Detail:
Title:  American journal of medical genetics     Volume:  39     ISSN:  0148-7299     ISO Abbreviation:  Am. J. Med. Genet.     Publication Date:  1991 Jun 
Date Detail:
Created Date:  1991-09-09     Completed Date:  1991-09-09     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  7708900     Medline TA:  Am J Med Genet     Country:  UNITED STATES    
Other Details:
Languages:  eng     Pagination:  288-93     Citation Subset:  IM    
Affiliation:
Pediatric Ophthalmology and Handicap, Gentofte Hospital, Denmark.
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MeSH Terms
Descriptor/Qualifier:
Abnormalities, Multiple / genetics
Adolescent
Adult
Child
Chromosome Deletion*
Chromosome Mapping
Chromosomes, Human, Pair 18*
Electroretinography
Female
Humans
Male
Mental Retardation / genetics
Photoreceptor Cells / physiopathology*
Retinitis Pigmentosa / genetics*,  physiopathology

From MEDLINE®/PubMed®, a database of the U.S. National Library of Medicine


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