[WAGR syndrome: a case report].

OBJECTIVE

WAGR syndrome is a rare syndrome which involves microdeletions of the short arm of chromosome 11 at band 11p13. The clinical features are Wilms' tumor, amiridia, genitourinary abnormalities and mental retardation. There are very few reported cases. We report a new case of WAGR syndrome and review the literature.

PATIENTS AND METHODS

Chromosome preparations were obtained from lymphocyte cultures of peripheral blood. For chromosome analysis GTG banding and fluorescent "in situ" hybridization (FISH) were used.

RESULTS

Chromosomal analysis revealed deletion of p12-p13 bands. Our patient had bilateral aniridia, Wilms' tumor and cryptorquidia.

CONCLUSIONS

The karyotype was 46, XY, del (11)(p12-p13). The p13 band deletion was the cause of the WAGR syndrome.