Chromosomal imbalance in the Aniridia-Wilms' tumor association: 11p interstitial deletion.
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.
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*
D007527:Isoenzymes; D007770:L-Lactate Dehydrogenase