Skip to main content

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.
Back to article page

Molecular Cytogenetics

ISSN: 1755-8166