Mahale, Ajit and *, Poornima V and *, Shrestha M (2007) WAGR syndrome--a case report. Nepal Med Coll J. , 9 (2). pp. 138-140.
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Abstract
The WAGR syndrome is a multiple congenital anomaly-mental retardation syndrome caused by interstitial deletion of the distal portion of chromosome 11p13. It is a contiguous gene deletion syndrome, and WAGR is an acronym for the primary features: W for Wilms tumor, A for aniridia, G for genital anomalies, and R for mental retardation. Wilms tumor and male genital anomalies are caused by deletion of the WT1 tumor-suppressor gene, and aniridia is caused by deletion of PAX6 ocular developmental gene. Mental retardation is presumed to be a consequence of deletion of multiple as yet unidentified genes in the region. Individuals with the WAGR syndrome have a high risk for developing Wilms tumor and late-onset renal failure, and should be monitored for these complications.
Item Type: | Article |
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Subjects: | Medicine > KMC Mangalore > Radio Diagnosis and Imaging |
Depositing User: | KMCMLR User |
Date Deposited: | 26 Nov 2013 07:32 |
Last Modified: | 26 Nov 2013 07:32 |
URI: | http://eprints.manipal.edu/id/eprint/137821 |
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