Table 2 Frequencies of the abnormalities detected by MLPA and FISH
Abnormality | Genes | Detected by MLPA | Detected by FISH | Result |
|---|---|---|---|---|
11q deletion | ATM, RDX, PPP2R1B, CADM1 | 3 | 4 | Disconcordant |
Trisomy 12 | CD27, STAT6, HMGA2, PAH, IGF1 | 9 | 12 | Disconcordant |
13q14 deletion | DLEU2, KCNRG, DLEU1, RB1, KCNRG, ATP7B | 9 | 10 | Disconcordant |
14q deletion | AKT1, MTA1, K1AA0125 | 1 | - | Disconcordant |
17p deletion | TP53 | 3 | 3 | Concordant |
Trisomy 19 | LDLR, CDKN2D, AKT2, MIR498 | 1 | - | Disconcordant |