title: Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.
abstract: The triad of aniridia, ambiguous genitalia, and mental retardation (AGR triad) is the characteristic clinical feature of three unrelated patients with previously unreported chromosome 11 short arm interstitial deletions. A Wilms' tumor in one patient establishes one cause for the aniridia-Wilms' tumor association. The genetic heterogeneity of aniridia, the AGR triad, and Wilms' tumor are demonstrated, and Wilms' tumor is indicated to be a neoplastic birth defect which can result from a variety of embryologic insults, some of which may be chromosomal or heritable.
mesh_terms: D000293:Adolescent; D002648:Child; D002675:Child, Preschool; D002872:Chromosome Deletion; D002906:Chromosomes, Human, 6-12 and X; D000013:Congenital Abnormalities / Q000201:enzymology / Q000235:genetics*; D005260:Female; D006801:Humans; D007498:Iris / Q000002:abnormalities* / Q000201:enzymology; D007527:Isoenzymes; D007621:Karyotyping; D007680:Kidney Neoplasms / Q000201:enzymology / Q000235:genetics*; D007770:L-Lactate Dehydrogenase / Q000378:metabolism; D008297:Male; D009373:Neoplasms, Germ Cell and Embryonal / Q000235:genetics; D010053:Ovary / Q000002:abnormalities; D013737:Testis / Q000002:abnormalities; D009396:Wilms Tumor / Q000201:enzymology / Q000235:genetics*
chemical_list: D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase