“Reduction” of CGG trinucleotide expansion from mother to offspring in seven fragile-X families Academic Article uri icon


  • Apparent reduction in the size of the CGG repeat is reported from seven fragile-X mothers to nine offspring in seven extended families. The overall frequency of the reduction amongst 121 fragile-X mother-fragile-X child transmissions was 7.4%, compared with an 18% reduction in fragile-X father-fragile-X daughter transmissions, but ascertainment bias may account for some underestimation of the frequency of reductions, especially between mothers and their offspring. In one mother-son transmission, a premutation present in the son (with a full mutation present in the mother) was unmethylated. This may be the result of either demethylation with reduction, or undetected mosaicism in the mother. There was no obvious increase in the level of intellectual performance in female offspring who received a reduced fragment from their mothers. Several mechanisms leading to apparent reduction, such as germline mosaicism, deletion or replication slippage, should be considered.


publication date

  • March 25, 1997