Journal of Medical Genetics
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.
Original Publication Citation
Hernandez, D., McConville, C.M., Stacey, M., Woods, C.G., Brown, M.M., Shutt, P., ... Taylor, A.M.R. (1993). A family showing no evidence of linkage between the ataxia telangiectasia gene and chromosome 11q22-23. Journal of Medical Genetics, 30(2), 135-140.
Hernandez, D.; McConville, C. M.; Stacy, Michael W.; Woods, C. G.; Brown, M. M.; Shutt, P.; Rysiecki, G.; and Taylor, A. M. R., "A Family Showing No Evidence of Linkage Between the Ataxia Telangiectasia Gene and Chromosome" (1993). Bioelectrics Publications. 60.