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Hum Genet. 1990 May;84(6):555-62.

Unusual features in the inheritance of ataxia telangiectasia.

Author information

1
Sub Department of Clinical Genetics, University of Birmingham, Birmingham Maternity Hospital, Edgbaston, UK.

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.

PMID:
2338342
DOI:
10.1007/bf00210809
[Indexed for MEDLINE]

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