Article
Frequency of FMR1 premutation carriers and rate of expansion to full mutation in a retrospective diagnostic FMR1 Korean sample.
Clinical genetics - 1 May 2014
Jang J-H, Lee K, Cho E-H, Lee E-H, Kim J-W, Ki C-S
Abstract excerpt
Detection of female premutation (PM) carriers of fragile X syndrome may be important in that a PM allele from the mother can expand to a full mutation (FM) when transmitted to the fetus. Although the PM carrier frequency might be different in varying populations, there is a little data on the Korean population. Furthermore, the risks of expansion to FM have not been studied in Korean PM carriers. In this...
Topics
- Adult
- Asian People
- Female
- Fragile X Mental Retardation Protein
- Fragile X Syndrome
- Genetic Carrier Screening
- Heterozygote
- Humans
- Mutation
- Pathology, Molecular
- Pregnancy