Document Detail

DNA diagnosis in a family with autosomal dominant aniridia.
MedLine Citation:
PMID:  1815167     Owner:  NLM     Status:  MEDLINE    
A large family with autosomal dominant aniridia is described. One of the family members presented with reduced visual acuity, nystagmus, slightly distorted macular reflex, but normal irides and clear media. Because of the high variability in expression of aniridia, even within family, a diagnosis of aniridia could not be excluded. However linkage analysis using tightly linked chromosome 11p13 markers flanking the aniridia locus (catalase, D11S151, and D11S325) made it highly unlikely that this patient inherited the aniridia gene from his affected mother.
F D Verbraak; M A Mannens; E J Redeker; G F Saunders; E M Bleeker-Wagemakers
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Publication Detail:
Type:  Case Reports; Journal Article    
Journal Detail:
Title:  Ophthalmic paediatrics and genetics     Volume:  12     ISSN:  0167-6784     ISO Abbreviation:  Ophthalmic Paediatr Genet     Publication Date:  1991 Dec 
Date Detail:
Created Date:  1992-06-22     Completed Date:  1992-06-22     Revised Date:  2008-11-21    
Medline Journal Info:
Nlm Unique ID:  8206832     Medline TA:  Ophthalmic Paediatr Genet     Country:  NETHERLANDS    
Other Details:
Languages:  eng     Pagination:  165-70     Citation Subset:  IM    
Department of Ophthalmogenetics, The Netherlands Ophthalmic Research Institute, Amsterdam.
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MeSH Terms
Aged, 80 and over
Aniridia / diagnosis,  genetics*
Chromosomes, Human, Pair 11
DNA / analysis*
Gene Expression
Genetic Variation / genetics
Glaucoma / genetics
Linkage (Genetics) / genetics
Middle Aged
Nystagmus, Pathologic / genetics
Visual Acuity
Reg. No./Substance:

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