Article
Reverse mutations in the fragile X syndrome.
American journal of medical genetics - 9 Aug 1996
Brown W T, Houck G E, Ding X, Zhong N, Nolin S, Glicksman A, Dobkin C, Jenkins E C
Abstract excerpt
Three females were identified who have apparent reversal of fragile X premutations. Based on haplotype analysis of nearby markers, they were found to have inherited a fragile X chromosome from their premutation carrier mothers, and yet had normal size FMR1 repeat alleles. The changes in repeat si...
Topics
- DNA Replication
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Gene Conversion
- Genetic Carrier Screening
- Genetic Linkage
- Genetic Markers
- Haplotypes
- Humans
- Male
- Mutation
- Nerve Tissue Proteins
- Nuclear Family
- Pedigree
- RNA-Binding Proteins
- Trinucleotide Repeats