Fragile X Testing Results
| Study ID | FMR1 Test Result | Age, y/mo | Gender | CGG Repeat No. | Methylation | Parent of Origin | Karyotype Result | CMA Result |
|---|---|---|---|---|---|---|---|---|
| ASD-09-020 | Female premutation | 2/6 | F | 69; 32 | Normal | Paternal | XX,46 | 1.6 Mb maternal duplication at Xp22.31 |
| ASD-09-021 | Female premutation | 2/0 | F | 56; 46 | Normal | Unknown | XX,46 | Normal |
| ASD-09-022 | Male full mutation | 2/6 | M | 200 | Abnormal | Maternal | XY,46 | Normal |
| ASD-09-023 | Female mosaic for full mutation and premutation | 5/1 | F | >200; 59 | Abnormal | Unknown | XX,46 | Normal |
Normal alleles: ∼5 to 40 repeats; intermediate alleles (also termed “gray zone”): ∼41 to 58 repeats; premutation alleles: ∼59 to 200 repeats; full mutation alleles: >200 repeats; methylation of the FMR1 promoter region typically occurs in full mutation alleles, resulting in silencing of gene expression.