The aniridia-Wilms' tumour association: molecular and genetic analysis of chromosome deletions on the short arm of chromosome 11

John Kenneth Cowell, Roy B. Wadey, Brenda B. Buckle, Jon Pritchard

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We have analysed karyotypes and DNA from three patients with aniridia (congenital absence of irises) and Wilms' tumour. All three had constitutional deletions from the short arm of chromosome 11. The minimum region of overlap of the deletion involves a small region of band 11p13 presumed to contain the genetic loci responsible for both phenotypic abnormalities. Using cells from these patients, somatic cell hybrids with transformed mouse cells have been prepared. Individual subclones retaining either the deletion-11 chromosome or the normal chromosome 11, in addition to a variety of other human chromosomes, have been identified. The relative position of these breakpoints have been determined and the panel of hybrids has been used to map randomly-isolated 11p13 DNA sequences. The characterisation of these deletions has provided a useful panel of hybrids for random mapping strategies designed to identify the Wilms' and aniridia genes.

Original languageEnglish (US)
Pages (from-to)123-126
Number of pages4
JournalHuman Genetics
Issue number2
Publication statusPublished - May 1 1989
Externally publishedYes


ASJC Scopus subject areas

  • Genetics
  • Genetics(clinical)

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