Modification of Expansion Risk Elizabeth Premutation “carriers” - risk for FXTAS/FXPOI >1:100-1:250 Full mutation fragile X syndrome - FXS >1:4000
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[PDF] Fragile X full mutation expansions are inhibited by one - Asuragen
Purpose: Fragile X CGG repeat alleles often contain one or more AGG interruptions that influence allele stability and risk of a full mutation transmission from
AGG interruptions within the maternal FMR1 gene reduce the risk of
ing the risk of having a child with fragile X syndrome The presence had no AGG interruptions in the expanded premutation allele, 69 (26 ) had one
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person is at risk of having a child with a fragile X disorder are more likely to expand when the premutation is passed from a female carrier to her child
[PDF] CGG repeats
Modification of Expansion Risk Elizabeth Premutation “carriers” - risk for FXTAS/FXPOI >1:100-1:250 Full mutation fragile X syndrome - FXS >1:4000
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Fragile X carriers and risk of expansion Fragile X syndrome occurs in individuals with greater than 200 CGG repeats The risk of expansion in premutation
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