FX-Premutation-Emory-12.13.15.pdf
Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS) **Risk of expansion from premutation to full mutation also depends on AGG repeat interruptions.
Fragile X full mutation expansions are inhibited by one or more AGG
150–250 premutation alleles in females in the general popula- of fragile X however
The Risk of Fragile X Premutation Expansion Is Lower in Carriers
The Fragile X syndrome is the most common cause of inherited mental retardation. For a female premuta- tion carrier the risk of having a child with a full
The FMR1 premutation and reproduction MODERN TRENDS
Fragile X syndrome a cause of mental retardation and autism
ACMG Standards and Guidelines for fragile X testing: a revision to
64 Women with alleles in this range are considered to be at risk for having affected children.65–67 The smallest FMR1 premutation allele reported to expand to a
Prevalence and Instability of Fragile X Alleles
Offspring of women who are premutation carriers are at risk to have fragile X syndrome. Expan- sion of the repeat region to more than 200 CGG trinucleotide
Genetic Counseling and Testing for FMR1 Gene Mutations: Practice
Expansion of the fragile X CGG repeat in females with premutations or intermediate alleles. Amer- ican Journal of Human Genetics 72
Genetic Counseling for Fragile X Syndrome: Updated
The risk for expansion of an intermediate allele to a premutation (greater than 55. CGG repeats) may be related to the absence of AGG interruptions which
Practice Guidelines for Molecular Diagnosis of Fragile X Syndrome
premutation. Premutations are likely to show instability and further expansion in future generations with a risk of expansion to a full mutation. Prenatal
Fragile X full mutation expansions are inhibited by one or more AGG
Sep 11 2014 are also at risk for premutation-associated disorders such as fragile X–associated tremor/ataxia syndrome (OMIM 300623).
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