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. 1995 Jul 13;376(6536):145-9.
doi: 10.1038/376145a0.

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

C Jones  1 , L Penny, T Mattina, S Yu, E Baker, L Voullaire, W Y Langdon, G R Sutherland, R I Richards, A Tunnacliffe
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Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2

C Jones et al. Nature. .

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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