А clinical case of WAGRO syndrome

Abstract

WAGRO syndrome is a rare genetic syndrome that includes Wilms’ tumor, aniridia, genitourinary system abnormalities, mental retardation, and obesity. The syndrome is associated with deletions of the short arm of chromosome 11 (11p), where the PAX6 and WT1 genes are located. We present the clinical case of a 7-year-old boy with aniridia, polar cataract, and concomitant neuromotor, psychomotor, and speech delays. Evaluation of the child’s karyotype followed by confirmation using multiplex ligation-dependent probe amplification showed the presence of a deletion including in the 11p13-p14 region.

Keywords

congenital aniridia / mutations in the pax6 gene / WAGR syndrome / WAGRO syndrome

References

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