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Human Genetics

, Volume 84, Issue 6, pp 555–562 | Cite as

Unusual features in the inheritance of ataxia telangiectasia

  • C. G. Woods
  • S. E. Bundey
  • A. M. R. Taylor
Original Investigations

Summary

A prevalence study of ataxia telangiectasia was conducted in the West Midlands, with a population of over 5 million. The prevalence in those aged 50 or less was found to be 1 in 514 000 and the birth frequency to be about 1 in 300 000. A genetic study of 47 families ascertained throughout the United Kingdom was carried out concurrently. A low parental consanguinity rate was found, no parents being first cousins or more closely related, whereas 10% had been expected. The incidence of ataxia telangiectasia in the 79 sibs of index cases was 1 in 7. These two features demonstrate that ataxia telangiectasia may not always be an autosomal recessive condition. Other possible explanations are that some cases are double heterozygotes or new dominant mutations.

Keywords

Internal Medicine Metabolic Disease Genetic Study Prevalence Study Index Case 
These keywords were added by machine and not by the authors. This process is experimental and the keywords may be updated as the learning algorithm improves.

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Copyright information

© Springer-Verlag 1990

Authors and Affiliations

  • C. G. Woods
    • 1
  • S. E. Bundey
    • 1
  • A. M. R. Taylor
    • 2
  1. 1.Sub Department of Clinical GeneticsUniversity of Birmingham, Birmingham Maternity HospitalEdgbastonUK
  2. 2.Department of Cancer StudiesMedical School, University of BirminghamBirminghamUK

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