Molecular Analysis of the Aniridia — Wilms’ Tumor Syndrome
Wilms’ tumor is an embryonic nephroblastoma which occurs at a frequency of 1/10,000 children and usually manifests within the first three years of life. 1/50 of the individuals with Wilms’ tumor also suffers from congenital aniridia (no iris), a condition which ultimately leads to blindness if untreated. Conversely 1/2 to 1/3 children with sporadic aniridia will go on to develop Wilms’ tumor. Individuals with both these conditions are almost invariably mentally retarded and will often have other genitourinary abnormalities such as ambiguous genitalia, gonadoblastoma and a variety of kidney defects. This syndrome, the WAGR syndrome (Wilms’ tumor, Aniridia, Genitourinary abnormalities, Mental Retardation) is associated frequently with a constitutional deletion of the short arm of one chromosome 11 which always involves the distal part of band 11p13 (Riccardi et al., 1978).
KeywordsSomatic Cell Hybrid Renal Dysplasia Translocation Breakpoint Genitourinary Abnormality FSHB Gene
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