Article
The molecular basis of the folate-sensitive fragile site FRA11A at 11q13.
Cytogenetic and genome research - 1 Jan 2007
Debacker K, Winnepenninckx B, Longman C, Colgan J, Tolmie J, Murray R, van Luijk R, Scheers S, Fitzpatrick D, Kooy F
Abstract excerpt
We report on the molecular basis of the rare, folate-sensitive fragile site FRA11A in chromosome band 11q13 in a family with cytogenetic expression. Five individuals express the fragile site and one was mentally retarded. Expansion of a polymorphic CGG-repeat located at the 5' end of the C11orf80 gene causes FRA11A. The CGG-repeat elongation coincides with hypermethylation of the adjacent CpG island and...
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