Wilms' tumor and gonadal dysgenesis in a child with the 2q37.1 deletion syndrome

Clin Genet. 1998 Apr;53(4):278-80. doi: 10.1111/j.1399-0004.1998.tb02696.x.


Here we report Wilms' tumor, gonadal dysgenesis and a bifid uterus in an 18-month-old female with a terminal deletion of the long arm of chromosome 2 [46,XX,del(2)(q37.1)]. Since Wilms' tumor has been previously reported in the 2q37 deletion syndrome, the present observation raises the question of whether a tumor susceptibility gene maps to chromosome 2q37 and suggests giving consideration to the possible occurrence of Wilms' tumor in the course of disease.

Publication types

  • Case Reports

MeSH terms

  • Abnormalities, Multiple / genetics*
  • Chromosome Deletion*
  • Chromosomes, Human, Pair 2*
  • DNA-Binding Proteins / genetics
  • Female
  • Genes, Wilms Tumor
  • Gonadal Dysgenesis / genetics*
  • Humans
  • In Situ Hybridization, Fluorescence
  • Infant
  • Syndrome
  • Transcription Factors / genetics
  • Uterus / abnormalities
  • WT1 Proteins
  • Wilms Tumor / genetics*


  • DNA-Binding Proteins
  • Transcription Factors
  • WT1 Proteins