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Chromosome fragility in two families not exhibiting amplification of the CGG trinucleotide associated with the fragile X site has been examined. Fluorescence in situ hybridisation with cosmid DNA from loci immediately flanking FRAXA and other distal loci have confirmed that cytogenetic fragility in these subjects is the result of expression of a new folate sensitive fragile X site, FRAXE.

Original publication




Journal article


J Med Genet

Publication Date





97 - 100


Chromosome Fragile Sites, Chromosome Fragility, Chromosome Mapping, DNA Mutational Analysis, DNA Probes, Folic Acid, Fragile X Syndrome, Genetic Linkage, Humans, In Situ Hybridization, Fluorescence, In Vitro Techniques, Male, Phenotype, Repetitive Sequences, Nucleic Acid, X Chromosome