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Result from Blood Spot Screening Among Individuals with Known Family History of Fragile X Syndrome
| Family | Σ Screened (M, F) | Σ Premutation (M, F) | Σ Full mutation (M, F) | Σ Normal (M, F) |
|---|---|---|---|---|
| A | 22 (6, 16) | 3 (1, 2) | 5 (0, 5) | 14 (5, 9) |
| B | 4 (0, 4) | 1 (0, 1) | 2 (0, 2) | 1 (0, 1) |
| C* | 6 (4,2) | 2 (1, 1) | 1 (1, 0) | 3 (2, 1) |
| Total | 32 (10, 22) | 6 (2, 4) | 8 (1, 7) | 18 (7, 11) |
C* New FXS case from ID and or autism population.
M, male; F, female; FXS, fragile X syndrome; ID, intellectual disability.
