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Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2

Abstract

The fragile site FRA11B has been localized to the p(CCG)n repeat of the CBL2 proto-oncogene. A proportion of Jacobsen (11q) syndrome patients inherited a chromosome carrying a CBL2 p(CCG)n expansion, which was truncated close to FRA11B. These results have broad implications for the role of p(CCG)n repeat expansion in the aetiology of genetic disease involving chromosome rearrangements.

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Jones, C., Penny, L., Mattina, T. et al. Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2. Nature 376, 145–149 (1995). https://doi.org/10.1038/376145a0

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