ASSOCIATION OF A CHROMOSOME DELETION SYNDROME WITH A FRAGILE SITE WITHIN THE PROTOONCOGENE CBL2

Authors
JONES C PENNY L MATTINA T YU S BAKER E VOULLAIRE L LANGDON WY SUTHERLAND GR RICHARDS RI TUNNACLIFFE A
Citation
C. Jones et al., ASSOCIATION OF A CHROMOSOME DELETION SYNDROME WITH A FRAGILE SITE WITHIN THE PROTOONCOGENE CBL2, Nature, 376(6536), 1995, pp. 145-149
Citations number
46
Categorie Soggetti
Multidisciplinary Sciences
Journal title
Nature → ACNP
ISSN journal
00280836
Volume
376
Issue
6536
Year of publication
1995
Pages
145 - 149
Database
ISI
SICI code
0028-0836(1995)376:6536<145:AOACDS>2.0.ZU;2-H
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 pa tients inherited a chromosome carrying a CBL2 p(CCG)(n) expansion, whi ch was truncated close to FRA11B. These results have broad implication s for the role of p(CCG)(n) repeat expansion in the aetiology of genet ic disease involving chromosome rearrangements.