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

Table 1 29 well-defined sSMC in AF or CV cell cultures that were used in this study

Case	sSMC	Euchromatin (based on GTG/FISH)¹	% of cultured cells with sSMC
1	der(3)(:p12.2->cen:)²	+	100
2	min(4)(:p11->q11:)	-	100
3	psu idic(9)(q12)	+	87,5
4	i(12)(p10)	+	89
5	i(12)(p10)	+	100
6	neo(12) (pter->p12.3:)	+	47
7	der(13)t(4;13)(q31.3;q13)	+	100
8	min(13 or 21)	-	100
9	min(13 or 21)	-	100
10	inv dup(14)(q11.2)	-	100
11	der(14)t(14;16)(q12;q21)	+	100
12	inv dup(15)(q12)	+	100
13	neo(15)(qtel->q2?4:)³	+	100
14	der(15)t(9;15)(p12;q14)	+	100
15	inv dup(15)(q11)	-	100
16	inv dup(15)(q11.2)	-	100
17	inv dup(15)(q11.2)	-	100
18	min(16)(:p11.1->q11.1:)	-	30
19	min(17)(:p11.1->q11.1:)	-	45
20	r(20)(q11.21q13.12)	+	87
21	inv dup(22)(q11.21)	+	100
22	inv dup(22)(q11.21)	+	100
23	inv dup(22)(q11.21)	+	100
24	inv dup(22)(q11.21)	+	100
25	del(22)(q11.2)	+	100
26	inv dup(22)(q11.1)	-	100
27	inv dup(22)(q11.1)	-	100
28	inv dup(22)(q11.1)	-	100
29	inv dup(22)(q11.1)	-	100

¹ For identification details, see additional file 1[38]. ² This case was previously published by Srebniak et al. [39]. ³This case was published earlier by Van Opstal et al. [40].

ISSN: 1755-8166