Ataxia-without-telangiectasia in two sisters with rearrangements of chromosomes 7 and 14

Clin Genet. 1988 Nov;34(5):283-7. doi: 10.1111/j.1399-0004.1988.tb02879.x.


Two sisters, 11 and 9 years old respectively, had the clinical features of a progressive neurological disorder similar to the ataxia-telangiectasia (AT) syndrome. The two patients have ataxia and chromosome instability with rearrangements of chromosomes 7 and 14 but no telangiectasia, nor the range of immunological anomalies typical of AT. Comparison with similar cases from the literature leads to the conclusion that either there is a specific disorder characterized by ataxia-without-telangiectasia and with the same cytogenetic pattern of AT, or AT shows a wider variability of phenotypic expression than thought before.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Ataxia Telangiectasia / genetics*
  • Ataxia Telangiectasia / pathology
  • Child
  • Chromosomes, Human, Pair 14 / ultrastructure*
  • Chromosomes, Human, Pair 7 / ultrastructure*
  • Female
  • Humans
  • Immunologic Tests
  • Karyotyping
  • Translocation, Genetic*