Abstract
Wilms tumor, aniridia, genitourinary anomalies, and mental retardation (WAGR syndrome) are caused by deletion of chromosome 11p13, which includes the Wilms tumor gene (WT1) and the aniridia gene (PAX6) loci (MEM, No. 194070). We report a case of WAGR syndrome in a boy who showed deletion of chromosome 11p11.2-13. CASE REPORT A male infant was born at 40 weeks’ gestation to a 35year-old mother. After birth he was noted to have abnormal eyes and genitalia. Ophthalmic examination under anesthesia revealed bilateral aniridia with a very thin residual remnant of iris. Congenital lamellar lens opacities with remnants of the tunica vasculosa lentis were found in both eyes. Fundus examination disclosed bilateral foveal hypoplasia. The intraocular pressures measured with the Perkins applanation tonometer (model HA-1; Kowa Co. Ltd., Tokyo, Japan) were 8 mmHg on each side. The baby also had hypospadias and undescended testes. Chromosome analysis showed an abnormal male karyotype with an interstitial deletion in the short arm of one chromosome
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