Familial occurrence of the aniridia-Wilms tumor syndrome with deletion 11p13-14.1

J Pediatr. 1980 Jun;96(6):1027-30. doi: 10.1016/s0022-3476(80)80630-5.

Abstract

A report of a family with two half-brothers and a maternal aunt affected with the aniridia-Wilms tumor syndrome is presented. The proband showed a deletion of most of band 11p13 and of subband 11p14.1 of one chromosome 11, and the proband's mother and an older brother, both phenotypically normal, showed a balanced chromosomal rearrangement. This family demonstrates that deletion of a small chromosome segment (11p13-14.1) is responsible for the aniridia-Wilms tumor syndrome and, that in some cases, the syndrome can be familial.

Publication types

  • Case Reports
  • Research Support, U.S. Gov't, P.H.S.

MeSH terms

  • Abnormalities, Multiple / complications*
  • Adolescent
  • Child, Preschool
  • Chromosome Aberrations / genetics
  • Chromosome Disorders
  • Chromosomes, Human, 1-3
  • Chromosomes, Human, 6-12 and X
  • Humans
  • Infant
  • Iris / abnormalities*
  • Karyotyping
  • Kidney Neoplasms / complications
  • Kidney Neoplasms / genetics*
  • Male
  • Pedigree
  • Syndrome
  • Wilms Tumor / complications
  • Wilms Tumor / genetics*