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. 1996 Jan;33(1):66–68. doi: 10.1136/jmg.33.1.66

FISH studies in a patient with sporadic aniridia and t(7;11) (q31.2;p13).

J A Crolla 1, I Cross 1, N Atkey 1, M Wright 1, C A Oley 1
PMCID: PMC1051815  PMID: 8825052

Abstract

A 2 year old female presenting with bilateral sporadic aniridia was found to have an apparently balanced reciprocal translocation with a chromosome 11 breakpoint within band p13. Fluorescence in situ hybridisation (FISH) studies with distal 11p13 specific cosmids showed that the chromosome 11 breakpoint lay between the aniridia (PAX6) locus and a region approximately 100 kb distal to PAX6 defined by the cosmid FO2121. Although this patient did not have a detectable deletion within PAX6, her aniridia may have resulted from a disruption of the distal chromatin domain containing either enhancers or regulators for PAX6. This case may therefore be another example of aniridia caused by a position effect as recently described in two familial aniridia patients in which the phenotype cosegregated with chromosome abnormalities with 11p13 breakpoints.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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