Article
AGG interruptions within the maternal FMR1 gene reduce the risk of offspring with fragile X syndrome.
Genetics in medicine : official journal of the American College of Medical Genetics - 1 Aug 2012
Yrigollen Carolyn M, Durbin-Johnson Blythe, Gane Louise, Nelson David L, Hagerman Randi, Hagerman Paul J, Tassone Flora
Abstract excerpt
PURPOSE: The ability to accurately predict the likelihood of expansion of the CGG repeats in the FMR1 gene to a full mutation is of critical importance for genetic counseling of women who are carriers of premutation alleles (55-200 CGG repeats) and who are weighing the risk of having a child with fragile X syndrome. The presence of AGG interruptions within the CGG repeat tract is thought to decrease the...
Topics
- Age Factors
- Alleles
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Predisposition to Disease
- Humans
- Male
- Pedigree
- Penetrance
- Risk
- Trinucleotide Repeat Expansion