Skip to main page content
U.S. flag

An official website of the United States government

Dot gov

The .gov means it’s official.
Federal government websites often end in .gov or .mil. Before sharing sensitive information, make sure you’re on a federal government site.

Https

The site is secure.
The https:// ensures that you are connecting to the official website and that any information you provide is encrypted and transmitted securely.

Access keys NCBI Homepage MyNCBI Homepage Main Content Main Navigation
. 1990 May;84(6):555-62.
doi: 10.1007/BF00210809.

Unusual features in the inheritance of ataxia telangiectasia

C G Woods  1 , S E Bundey, A M Taylor
Affiliations

Unusual features in the inheritance of ataxia telangiectasia

C G Woods et al. Hum Genet. 1990 May.

Abstract

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.

PubMed Disclaimer

References

    1. Kroc Found Ser. 1985;19:101-9 - PubMed
    1. Acta Genet Med Gemellol (Roma). 1965 Jan;14:57-72 - PubMed
    1. Br Med J. 1978 Sep 16;2(6140):802 - PubMed
    1. J Med Genet. 1987 Nov;24(11):669-77 - PubMed
    1. J Epidemiol Community Health. 1990 Jun;44(2):130-5 - PubMed

Publication types

LinkOut - more resources