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Table 3 MLPA results of 16 prenatal cases with a unique sequence positive sSMC

From: Multiplex ligation dependent probe amplification (MLPA) for rapid distinction between unique sequence positive and negative marker chromosomes in prenatal diagnosis

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 cases 1          
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
  1. LTC-CV = long-term cultured chorionic villi; uAF = uncultured amniotic fluid cells; cAF = cultured amniotic fluids cells.
  2. 1: Level of mosaicism was determined in cultured cells, whereas DNA from uncultured cells was used for MLPA in cases 4, 6 and 20.
  3. 2: Although relative probe signals indicate 3 copies (<1.6) we interpreted these results as 4 copies because of mosaicism in the cell cultures.
  4. 3 relative probe signal is clearly above the normal cut off value but < 1.3, probably indicating mosaicism.
  5. 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).
  6. 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.
  7. 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.