Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2
Open Access
- 1 July 1995
- journal article
- research article
- Published by Springer Nature in Nature
- Vol. 376 (6536) , 145-149
- https://doi.org/10.1038/376145a0
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.Keywords
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