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. 1993 Feb;30(2):135–140. doi: 10.1136/jmg.30.2.135

A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23.

D Hernandez 1, C M McConville 1, M Stacey 1, C G Woods 1, M M Brown 1, P Shutt 1, G Rysiecki 1, A M Taylor 1
PMCID: PMC1016271  PMID: 8445618

Abstract

We have studied an inbred family in which two cousins presented with the same clinical features of ataxia telangiectasia (AT). Both patients are still ambulatory at ages 25 and 20. Cellular features of both patients are typical of AT and include increased radiosensitivity and an increased level of spontaneously occurring chromosome aberrations in peripheral blood lymphocytes. Linkage studies and haplotype analysis show no clear evidence that the gene for AT in this family is on chromosome 11q22-23. As previously reported AT families from complementation groups AB, C, and D have all shown linkage to this region of 11q22-23. Our study is of importance in suggesting additional locus heterogeneity.

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Selected References

These references are in PubMed. This may not be the complete list of references from this article.

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