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Original Article

Aniridia, Wilms' tumor and human chromosome 11

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Pages 229-248 | Published online: 08 Jul 2009
 

Abstract

Aniridia—a developmental abnormality of the eye in which the iris is apparently absent—has been shown to be genetically associated with Wilms' tumor (an embryonic nephro-blastoma) in the WAGR syndrome. Genetic and cytogenetic evidence points to band p13 of human chromosome 11 as the localization of the genes responsible for these defects.

Deleted chromosomes 11 from WAGR patients and clinically associated translocations involving 11p13 have been used to map and order genes and anonymous DNA markers around the WAGR locus refining the localization of the aniridia and Wilms' tumor genes to within about 1 million base pairs of DNA.

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