WAGR syndrome (Wilms' tumor, aniridia, genitourinary abnormalities and mental 
retardation) and Potocki-Shaffer syndrome are rare contiguous gene deletion 
syndromes caused by deletions of the 11p14-p12 chromosome region.We present a 
patient with mental retardation, unilateral cataract, bilateral ptosis, genital 
abnormalities, seizures and a dysmorphic face. Cytogenetic analysis showed a 
deletion on 11p that was further characterized using FISH and MLPA analyses. The 
deletion (11p13-p12) located in the area between the deletions associated with 
the WAGR and Potocki-Shaffer syndromes had a maximum size of 8.5 Mb and 
encompasses 44 genes. Deletion of WT1 explains the genital abnormalities 
observed. As PAX6 was intact the cataract observed cannot be explained by a 
deletion of this gene. Seizures have been described in Potocki-Shaffer syndrome 
while mental retardation has been described in both WAGR and Potocki-Shaffer 
syndrome. Characterization of this patient contributes further to elucidate the 
function of the genes in the 11p14-p12 chromosome region.