WAGR

Question 1

What is the genetic defect?

Answer 1

Deletion of one copy of chromosome 11p13
WT1 gene = wilms
PAX6 gene = aniridia

Question 2

What are the clinical manifestations of WAGR?

Answer 2

W = Wilms tumor (60%)
A = Aniridia
G = GU anomalies
R = mental Retardation