Molecular analysis of a reciprocal translocation t(5;11)(q11;p13) in a WAGR patient
- 1 July 1988
- journal article
- research article
- Published by Springer Nature in Human Genetics
- Vol. 79 (3) , 280-282
- https://doi.org/10.1007/bf00366252
Abstract
Most patients with the complex association aniridia — predisposition to Wilms' tumor (WAGR syndrome) present with a de novo constitutional deletion of band 11p13. We report a patient with WAGR syndrome and a reciprocal translocation between chromosomes 5 and 11 t(5;11)(q11;p13). High resolution banding cytogenetic analysis and molecular characterization using 11p13 DNA markers showed a tiny deletion encompassing the gene for CAT but sparing the gene for FSHB. This suggests that syndromes associated with apparently balanced translocations may be due to undetectable loss of material at the breakpoint(s) rather than to breakage in the gene itself.This publication has 13 references indexed in Scilit:
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