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.
Original language | English |
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Pages (from-to) | 138-140 |
Number of pages | 3 |
Journal | Nepal Medical College journal : NMCJ |
Volume | 9 |
Issue number | 2 |
Publication status | Published - 01-06-2007 |
All Science Journal Classification (ASJC) codes
- General Medicine