Chromosomal Imbalance in the Aniridia-Wilms' Tumor Association: 11p Interstitial Deletion

Author:

Riccardi Vincent M.1,Sujansky Eva1,Smith Ann C.1,Francke Uta1

Affiliation:

1. Kleberg Genetics Center, Baylor College of Medicine, Houston; Genetics Unit, University of Colorado Medical Center, Denver; and Department of Pediatrics, University of California, San Diego School of Medicine, La Jolla

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.

Publisher

American Academy of Pediatrics (AAP)

Subject

Pediatrics, Perinatology and Child Health

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