Table 3.
Detection | Combined methods∗ | SB† | MLPA andPCR-RFLP | MMCP |
---|---|---|---|---|
Deletion on one allele | 49 | 49 | 49 | 43 |
Deletion on two alleles | 15 | 15 | 15 | 15 |
Duplication | 4 | 4 | 4 | 3 |
No deletion and duplication | 65 | 65 | 65 | 58 |
Status unknown | 0 | 0 | 0 | 13 |
Numbers of detected samples are shown.
Final results were given based on all assays used.
Based on proband and parental data.