| FXS | Fragile X Syndrome |
| FMR1 | Fragile X mental retardation 1 |
| FMRP | Fragile X mental retardation protein |
| CGG | Cytosine-guanine-guanine |
| AGG | Adenine-guanine-guanine |
| PCR | Polymerase chain reaction |
| CVS | Chorionic villus sampling |
| FISH | Fluorescence in situ hybridization |
| PM | Premutation |
| FM | Full mutation |
| SNP | Single nucleotide polymorphism |
| TP-PCR | Triplet repeat primed PCR |
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