Association of a chromosome deletion syndrome with a fragile site within the proto-oncogene CBL2
Journal article published in 1995 by
C. Jones,
L. Penny,
T. Mattina 
,
S. Yu,
E. Baker,
L. Voullaire,
W. Y. Langdon,
G. R. Sutherland,
R. I. Richards,
A. Tunnacliffe
,
S. Yu,
E. Baker,
L. Voullaire,
W. Y. Langdon,
G. R. Sutherland,
R. I. Richards,
A. Tunnacliffe
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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.