Table 3.
MLPA results of 16 prenatal cases with a unique sequence positive sSMC
| No | sSMC | DNA source for MLPA | MLPA-results: copy number of sequence(s) in the kit, genes that they target and their abnormal relative probe signal(s) | |||||||
|---|---|---|---|---|---|---|---|---|---|---|
| P181 | P182 | P036B | P070 | |||||||
| Copy numb. | Relative probe signal(s) | Copy numb. | Relative probe signal(s) | Copy numb. | Relative probe signal(s) | Copy numb. | Relative probe signal(s) | |||
| Mosaic cases1 | ||||||||||
| 3 | psu idic(9)(q12) (87,5%) |
LTC-CV | 4 | IGFBPL1: 2.046 | 4 | EXOSC3: 1.9013 | 4 | DMRT1: 1.854 | 4 | FLJ00026: 1.835 |
| 4 | i(12)(p10) (89%) |
uAF | 4 | PKPR2: 1.5772 | 4 | PKP2: 1.5202 | 4 | SLC6A12: 1.718 | 4 | RBBP2: 1.602 |
| 6 | neo(12) (pter->p12.3:) (47%) |
uAF | 2 | PKPR2: 1.006 KIF21A: 1.015 |
2 | PKP2: 1.016 KIF21A: 1.045 |
4 | SLC6A12: 1.765 | 4 | RBBP2: 1.5192 |
| 20 | r(20)(q11.21q13.12) (87%) |
uAF | 3 | DUSP15: 1.461 | 3 | REM1: 1.1833 | 2 | SOX12:1.088 OPRL: 1.000 |
2 | FLJ22115: 0.989 FLJ20517: 1.004 |
| Non-mosaic cases | ||||||||||
| 1 | der(3) (:p12.2->cen:) |
LTC-CV | 3 | EPHA3: 1.1783 | 3 | EPHA3: 1.2263 | 2 | CHL1: 0.974 | 2 | CHL1: 0.965 |
| 5 | i(12)(p10) | uAF | 4 | PKPR2: 1.632 | 4 | PKP2: 1.795 | 4 | SLC6A12: 1.645 | 4 | RBBP2: 1.699 |
| 7 | der(13)t(4;13) (q31.3;q13) |
cAF | 3 | HSMPP8: 1.470 ZNF198: 1.322 |
3 | HSMPP8:1.387 ZNF198: 1.534 |
3 | PSPC1: 1.352 FRG1: 1.2354 |
3 | PSPC1:1.495 FRG1: 1.300 |
| 11 | der(14)t(14;16) (q12;q21) |
cAF | 3 | APEX: 1.358 ADPRTL2:1.310 |
3 | ADPRTL2: 1.371 APEX: 1.410 |
3 | HEI10: 1.393 GAS11/GAS8: 1.498 |
3 | ADPRTL2: 1.462 GAS11: 1.381 |
| 12 | inv dup(15) (q12) |
cAF | 4 | NDN: 1.702 NIPA2: 1.770 |
4 | MKRN3: 1.635 NIPA2: 1.851 |
4 | CYFIP1: 1.714 | 4 | NDN: 1.668 |
| 13 | neo(15) (qtel->q2?4:) |
cAF | 2 | NDN: 1.007 NIPA2: 0.932 |
2 | MKRN3: 0.879 NIPA2: 1.087 |
3 | ALDH1A3: 1.450 | 3 | FLJ22604: 1.485 |
| 14 | der(15)t(9;15) (p12;q14) |
uAF | 3 | NDN: 1.324 NIPA2: 1.406 IGFBPL1: 1.401 |
3 | MKRN3: 1.493 NIPA2: 1.335 EXOSC3: 1.314 |
3 | CYFIP1: 1.424 DMRT1: 1.455 |
3 | NDN: 1.324 FLJ00026: 1.8205 |
| 21 | inv dup(22) (q11.21) |
cAF | 4 | CECR1: 1.831 CECR5: 1.5726 |
4 | CECR1: 1.830 SLC25A18: 1.773 |
4 | BID: 1.825 | 36 | IL17R: 1.548 |
| 22 | inv dup(22) (q11.21) |
uAF | 4 | CECR1: 1.789 CECR5: 1.654 |
4 | CECR1: 1.796 SLC25A18: 1.811 |
4 | BID: 1.907 | 4 | IL17R: 1.881 |
| 23 | inv dup(22) (q11.21) |
uAF | 4 | CECR1: 1.694 CECR5: 1.724 |
4 | CECR1: 1.711 SLC25A18: 1.691 |
4 | BID: 1.940 | 4 | IL17R: 2.080 |
| 24 | inv dup(22) (q11.21) |
cAF | 4 | CECR1: 1.840 CECR5: 1.819 |
4 | CECR1: 1.790 SLC25A18: 2.098 |
4 | BID: 1.693 | 36 | IL17R: 1.527 |
| 25 | del(22) (q11.2) |
LTC-CV | 4 | CECR1: 1.770 CECR5: 1.621 |
4 | CECR1: 1.760 SLC25A18: 1.869 |
4 | BID: 1.688 | 4 | IL17R: 1.806 |
LTC-CV = long-term cultured chorionic villi; uAF = uncultured amniotic fluid cells; cAF = cultured amniotic fluids cells.
1: Level of mosaicism was determined in cultured cells, whereas DNA from uncultured cells was used for MLPA in cases 4, 6 and 20.
2: Although relative probe signals indicate 3 copies (<1.6) we interpreted these results as 4 copies because of mosaicism in the cell cultures.
3 relative probe signal is clearly above the normal cut off value but < 1.3, probably indicating mosaicism.
4 the relative probe signal of 4qtel probe (FRG1) is in fact below the cut off value of 1.239. The FRG1 specific probes in the P036 kits were found not to be reliable by the manufacturer due to the presence of population specific SNP's in FRG1 (see website of MRC-Holland).
5 The probe for 9p in the P070 kit was found to be duplicated in some healthy individuals (see MRC Holland-website) which may explain the relative probe signal of 1.820 indicating 4 instead of 3 copies of 9ptel.
6 The relative probe signal of the sequence targeting CECR5 in case 21 and IL17R in cases 21 and 24 is < 1.6 and therefore indicating 3 instead of 4 copies. However, on the basis of the relative probe signals of the other probes in the same and/or other kits, we assume the presence of 4 copies of CECR5 and/or IL17R on the sSMC in cases 21 and 24.