1 / Affected child / LB x 1 [47,XX,+der(14)t(14;22)(q11.2;q13.3)] / 46,XX,t(14;22)(q11.2;q13.3) / 6
2 / Pregnancy termination & recurrent miscarriage / SA x 3, TOP x 2 [2 x 46,Xn,der(17)t(12;17)(p13;p13)] / 46,XX,t(12;17)(p13;p13) / 10
3 / Recurrent miscarriage / ECT x 1, SA x 2, SA (IVF) x 1, 3 x failed IVF cycles / 46,XX,t(1;19)(q32.1;q13.1) / 1
4 / Pregnancy termination & recurrent miscarriage / SA x 4, TOP x 1 [47,XX,+der(22)t(11;22)(q23.3;q11.2)] / 46,XX,t(11;22)(q23.3;q11.2) / 3.7
5 / Recurrent miscarriage / SA x 3 / 46,XY,t(3;7)(q25.3;p22.1) / 2
6 / Recurrent miscarriage / LB (healthy) x 1, SA x 5 / 46,XY,t(11;22)(q23.3;q11.2) / 0.7
7 / Recurrent miscarriage / LB x 1 [46,XX], SA x 4 / 46,XX,t(9;20)(q34.2;q11.2) / 3
8 / Recurrent miscarriage / SA x 4, TOPx1 (neural tube defect), SB x1 (MCA) / 46,XX,t(5;14)(p15.1;q32.1) / 5-10
9 / Recurrent miscarriage / SA x 3 / 46,XX,t(7;12)(q22;q13.1) / <1
10 / Recurrent miscarriage / SA x 4 / 46,XX,t(8;18)(p21.1;q21.1) / 3
11 / Recurrent miscarriage / SA x 7 / 46,XX,t(3;5)(p12;q14.2) / <1
12 / Male infertility / 2 x failed ICSI cycles / 46,XY,t(11;22)(q23.3;q11.2) / 0.7
13 / Pregnancy termination / TOP x 1 [46,XY,der(2)t(2;22)(p25;q11.2)] / 46,XX,t(2;22)(p25;q11.2) / 7
14 / Affected child & recurrent miscarriage / SA x 3, LB x 1 [46,XX,der(17)t(11;17)(p15.5;p13)] / 46,XX,t(11;17)(p15.5;p13) / 15-20
15 / Recurrent miscarriage / SA x 5 / 46,XX,t(3;14)(q29;q32.1) / 5-10
16 / Recurrent miscarriage / SA x 4, SA after PND [46,Xn,t(1;13)(q23;p11)], IUD x1 (MCA), / 46,XX,t(1;13)(q23;p11) / 2
17 / Affected child & recurrent miscarriage / SA x 5, SA x 1 [46,XX,der(17)t(11;17)(p15.5;p13)], LB x1 [46,XX,der(17)t(11;17)(p15.5;p13)], / 46,XX,t(11;17)(p15.5;p13) / 15-20
18 / Male infertility / Four years / 46,XY,t(1;9)(p13.3;p13) / <1
19 / Recurrent miscarriage / SA x 3 / 46,XX,t(1;10)(p36.1;p11.2) / 5
20 / Recurrent miscarriage / SA x 3 / 46,XY,t(3;6)(q25;q23) / 1
21 / Recurrent miscarriage / SA x 4 / 46,XX,t(4;15)(q26;q13) / <1
22 / Affected child / LB x 1 [47,XY,+der(22)t(11;22)(q23.3;q11.2)] / 46,XX,t(11;22)(q23.3;q11.2) / 3.7
23 / Recurrent miscarriage / SA x 5, SA x 1 [46,XY,der(4)t(4;13)(p15.2;q22)] / 46,XX,t(4;13)(p15.2;q22) / 5
24 / Male infertility & ICSI recurrent miscarriage / SA (ICSI) x 3, 4 x failed ICSI cycles / 46,XY,t(1;15)(q21;p11.2) / <1
25 / Male infertility / 4 x failed ICSI cycles / 46,XY,t(9;14)(p22;q22) / 1
26 / Recurrent miscarriage / SA x 4 / 46,XX,t(11;22)(q23.3;q11.2) / 3.7
27 / Recurrent miscarriage / SA x 5 / 46,XX,t(4;8)(q21.3;p21.3) / 1
28 / Male infertility / Six years / 46,XY,t(3;7)(q23;q36) / 1
29 / Recurrent miscarriage / SA x 3 / 46,XX,t(1;7)(p34.1;p14.3) / 1
30 / Recurrent miscarriage / SA x 6 / 46,XX,t(2;4)(p22.2;q33) / 1
31 / Male infertility / Two years / 46,XY,t(1;6)(p13.3;p22.2) / <1
32 / Recurrent miscarriage / SA x 3 / 46,XX,t(4;6)(p15.2;q13) / <1
33 / Female infertility / SA x 1, four years / 46,XX,t(7;13)(q11.21;p13) / 1
34 / Family history / LB (FH) x 2 / 46,XX,t(4;8)(p16.1;p23.1) / 20
35 / Affected stillbirth / SB x 1 [46,XX,der(2)t(2;7)(q37.1;q32)] / 46,XX,t(2;7)(q37.1;q32) / 1
36 / Recurrent miscarriage / SA x 2 / 46,XY,t(6;10)(q23.1;p13) / 10
37 / Recurrent miscarriage / LB (healthy) x 1, SA x 5 / 46,XX,t(7;9)(q21.2;q33) / 1
38 / Male infertility / 2 x failed ICSI cycles / 46,XY,t(1;19)(p10;p10) / <1
39 / Male infertility / Eighteen months / 46,X,t(Y;13)(q11.1;q21.3) / 0
40 / Pregnancy termination / SA x 1, TOP x 1 [46,XX,der(13)t(10;13)(q26.3;q21.2)] / 46,XX,t(10;13)(q26.3;q21.2) / 5
41 / Recurrent miscarriage / SA x 5 / 46,XX,t(3;13)(q13.2;q12.1) / 1
42 / Male infertility / 3 x failed IUI cycles / 46,XY.t(11;15)(q13.3;q13) / 1
43 / Pregnancy termination / TOP (unbalanced translocation) / 46,XY,t(9;12)(p24;p11.2) / 10
44 / Female infertility / Several years / 46,XX,t(5;16)(p12;q23) / 2
45 / Recurrent miscarriage / SA x 3 / 46,XX,t(2;11)(q37.1;q23.1) / 5
46 / Recurrent miscarriage / SA x 2, SA (triploid) x 1 / 46,XX,t(9;16)(q33.2;p13.11) / 1
47 / Recurrent miscarriage / SA x 8 / 46,XX,t(11;22)q23.3;q11.2) / 3.7
48 / Recurrent miscarriage / SA x 3 / 46,XY,t(5;6)(q35.3;q24.2) / 20
49 / Female infertility / Three years / 46,XX,t(11;22)(q23.3;q11.2) / 3.7
50 / Pregnancy termination / SA x 2, TOP x 1 [46,XX,der(4)t(4;19)(p16;p13.3)] / 46,XX,t(4;19)(p16;p13.3) / 5
51 / Male infertility / LB (healthy) x 1, several years / 46,XY,t(2;14)(q32.2;23) / 1
52 / Affected child / LB x1 [45,XX,-14,der(18)t(14;18)(q11.2;q23)] / 46,XX,t(14;18)(q11.2;q23) / 5
53 / Male infertility / SA x 1, 2 x failed ICSI cycles / 46,XY,t(1;17)(q21.3;p13.3) / <1
54 / Affected child & recurrent miscarriage / SA x 3, LB (healthy) x 1, LB x1 [46,XY,der(4)t(4;5)(p16;q35)] / 46,XY,t(4;5)(p16;q35) / 35
55 / Male infertility / Several years / 46,XY,t(8;20)(p21.1;p13) / 10
56 / Affected child / SA x 1, LB x 1 [46,XX,der(10)t(2;10)(q37.1;p13)] / 46,XX,t(2;10)(q37.1;p13) / 20
57 / Female infertility / Three years / 46,XY,t(14;16)(q32.3;p11.2) / 5-10
58 / Male infertility / Several years / 46,XY,t(9;11)(p13;q13.3) / 2
59 / Pregnancy termination, secondary infertility / TOP x 1 (unbalanced translocation) / 46,XY,t(4;9)(q31.2;q34.3) / 5
AppendixI.Heterozygote obstetric histories, karyotypes and estimated unbalanced translocation spontaneous pregnancy live birth reproductive risks (LBR)
Key: IUD – intrauterine death; LB – live birth; MCA – multiple congenital abnormalities; SA – spontaneous abortion; SB – still birth; T – termination; live birth PGD pregnancy
Note 1: For most of the reciprocal translocation carriers, the family pedigree was not extensive enough to allow a private risk assessment, and therefore the reproductive risk assessment was based on assessing the mode of segregation that will give the smallest chromosome imbalance, published empirical data on liveborn children with single-segment imbalance for the regions involved, relevant reproductive history in the family, and a review the literature
Couple / Karyotype / Probe scheme / FISH probe mix / Diploid accuracy1 / 46,XX,t(14;22)(q11.2;q13.3) / 2C1T / Cytocell subtel 14q TR, Vysis TUPLE 1 22q11.2 SO, Vysis ARSA 22q13.3 SG / 79%
2 / 46,XX,t(12;17)(p13;p13) / 1C2T / Cytocell subtel 12p TR, Vysis LIS1 17p13.3 SO, Vysis RARA 17q21.1 SG / 91%
3 / 46,XX,t(1;19)(q32.1;q13.1) / 1C2T / Oncor 1 (D1Z5) alphasatellite (bio,Cy5), Oncor subtel 1q (dig, FITC), Vysis subtel 19q SO / 87%
4 / 46,XX,t(11;22)(q23.3;q11.2) / 2C1T / Oncor 11 alphasatellite (bio, Cy5), Vysis TUPLE 1 22q11.2 SO, Vysis ARSA 22q13.3 SG / 84%
5 / 46,XY,t(3;7)(q25.3;p22.1) / 1C2T / Vysis subtel 3q SO, Vysis subtel 7p SG, Oncor 7 alphasatellite (bio, Cy5) / 89%
6, 12 / 46,XY,t(11;22)(q23.3;q11.2) / 2C1T / Vysis 11 alphasatellite SA, Vysis TUPLE 1 22q11.2 SO, Vysis ARSA 22q13.3 SG / 86%, 86%
7 / 46,XX,t(9;20)(q34.2;q11.2) / 2C1T / Oncor 9 classical satellite (bio, Cy5), Abbot subtel 9q SO, Oncor 20 alphasatellite (dig, FITC) / 83%
8 / 46,XX,t(5;14)(p15.1;q32.1) / 1C2T / Vysis D5S23 5p15.2 SG, Oncor 14/22 alphasatellite (bio, Cy5), Vysis subtel 14q SO / 73%
9 / 46,XX,t(7;12)(q22;q13.1) / 1C2T / Vysis subtel 7q SO, Vysis 12 alphasatellite SA, Oncor subtel 12q (dig, FITC) / 90%
10 / 46,XX,t(8;18)(p21.1;q21.1) / 1C2T / Oncor subtel 8p (dig, FITC), Vysis 18 alphasatellite SA, Vysis subtel 18q SO / 85%
11 / 46,XX,t(3;5)(p12;q14.2) / 1C2T / Vysis subtel 3p SG, Oncor 3 alphasatellite (bio, Cy5), Vysis subtel 5q SO / 86%
13 / 46,XX,t(2;22)(p25;q11.2) / 2C1T / Oncor 2 alphasatellite (bio, Cy5), Vysis TUPLE 1 22q11.2 SO, Vysis ARSA 22q13.3 SG / 90%
14, 17 / 46,XX,t(11;17)(p15.5;p13) / 1C2T / Vysis subtel 11p SG, Custom 2111b1 17p13.3 (bio, TR), Vysis 17 alphasatellite SA / 84%, 83%
15 / 46,XX,t(3;14)(q29;q32.1) / 1C2T / Oncor 3 alphasatellite (bio, Cy5), Oncor subtel 3q (dig, FITC), Vysis subtel 14q SO / 88%
16 / 46,XX,t(1;13)(q23;p11) / 2C1T / Oncor 1 (D1Z5) alphasatellite (bio,Cy5), Vysis subtel 1q SO, Oncor 13q32-33 (dig, FITC) / 85%
18 / 46,XY,t(1;9)(p13.3;p13) / 1C2T / Abbot subtel 1p SG, Cytocell subtel 9p TR, Vysis 9 alphasatellite SA / 86%
19 / 46,XX,t(1;10)(p36.1;p11.2) / 1C2T / Vysis subtel 1p SG, Cytocell subtel 10p R, Vysis 10 alphasatellite SA / 91%
20 / 46,XY,t(3;6)(q25;q23) / 1C2T / Cytocell subtel 3q FITC, Vysis 6 alphasatellite SA, Vysis subtel 6q SO / 89%
21 / 46,XX,t(4;15)(q26;q13) / 1C2T / Vysis 4 alphasatellite SA, Vysis subtel 4q SO, Cytocell subtel 15q FITC / 89%
22, 26 / 46,XX,t(11;22)(q23.3;q11.2) / 1C2T / Vysis subtel 11q SO, Vysis TUPLE 1 22q11.2 SO, Vysis ARSA 22q13.3 SG / 90%, 91%
23 / 46,XX,t(4;13)(p15.2;q22) / 1C2T / Cytocell subtel 4p TR, Vysis 4 alphasatellite SA, Oncor 13q32-33 (dig, FITC) / 91%
24 / 46,XY,t(1;15)(q21;p11.2) / 1C2T / Oncor 1 (D1Z5) alphasatellite (bio,Cy5), Vysis subtel 1q SO, Vysis (D15Z1) satellite III SA / 78%
25 / 46,XY,t(9;14)(p22;q22) / 1C2T / Cytocell subtel 9p FITC, Vysis 9 alphasatellite SA, Vysis subtel 14q SO / 89%
27 / 46,XX,t(4;8)(q21.3;p21.3) / 1C2T / Vysis 4 alphasatellite SA, Vysis subtel 4q SO, Vysis subtel 8p SG / 91%
28 / 46,XY,t(3;7)(q23;q36) / 1C2T / Cytocell subtel 3q FITC, Vysis 7 alphasatellite SA, Vysis subtel 7q SO / 92%
29 / 46,XX,t(1;7)(p34.1;p14.3) / 1C2T / Cytocell subtel 1p TR, Cytocell subtel 7p FITC, Vysis 7 alphasatellite SA / 89%
30 / 46,XX,t(2;4)(p22.2;q33) / 1C2T / Cytocell subtel 2p FITC, Vysis 4 alphasatellite SA, Vysis subtel 4q SO / 94%
31 / 46,XY,t(1;6)(p13.3;p22.2) / 1C2T / Cytocell subtel 1p TR, Cytocell subtel 6p FITC, Vysis 6 alphasatellite SA / 89%
32 / 46,XX,t(4;6)(p15.2;q13) / 1C2T / Cytocell subtel 4p FITC, Vysis 6 alphasatellite SA, Vysis subtel 6q SO / 93%
33 / 46,XX,t(7;13)(q11.21;p13) / 2C1T / Oncor 7 alphasatellite (bio, Cy5), Cytocell subtel 7q TR, Vysis RB1 13q14 SG / 90%
34 / 46,XX,t(4;8)(p16.1;p23.1) / 1C2T / Cytocell subtel 4p R, Vysis 4 alphasatellite SA, Vysis subtel 8p SG / 88%
35 / 46,XX,t(2;7)(q37.1;q32) / 1C2T / Vysis subtel 2q SO, Oncor 7 alphasatellite (bio, Cy5), Cytocell subtel 7q FITC / 90%
36 / 46,XY,t(6;10)(q23.1;p13) / 1C2T / Vysis subtel 6q SO, Cytocell subtel 10p FITC, Oncor 10 alphasatellite (bio, Cy5) / 91%
37 / 46,XX,t(7;9)(q21.2;q33) / 1C2T / Vysis subtel 7q SO, Vysis 9 alphasatellite SA, Cytocell subtel 9q FITC / 89%
38 / 46,XY,t(1;19)(p10;p10) / 2C2T / Cytocell subtel 1p TR, Oncor 1 (D1Z5) alphasatellite (bio,Cy5), Cytocell subtel 19p FITC, Vysis subtel 19q SO / 74%
39 / 46,X,t(Y;13)(q11.1;q21.3) / 1C2T / Vysis RB1 13q14 SG, Cytocell subtel 13q TR, Vysis X alphasatellite SA, Oncor (DYZ1) classical satellite (bio, Cy5) / 84%
40 / 46,XX,t(10;13)(q26.3;q21.2) / 1C2T / Cytocell subtel 10q TR, Vysis RB1 13q14 SG, Vysis subtel 13q SO / 87%
41 / 46,XX,t(3;13)(q13.2;q12.1) / 1C2T / Vysis 3 alphasatellite SO, Cytocell 3q TR, Vysis RB1 13q14 SG / 81%
42 / 46,XY.t(11;15)(q13.3;q13) / 1C2T / Vysis subtel 11q SO, Oncor 15 (D15Z) alphasatellite (bio, Cy5), Cytocell subtel 15q FITC / 89%
43 / 46,XY,t(9;12)(p24;p11.2) / 1C2T / Vysis subtel 9p SG, Vysis 9 alphasatellite SA, Cytocell subtel 12p TR / 91%
44 / 46,XX,t(5;16)(p12;q23) / 1C2T / Vysis D5S23 5p15.2 SG, Vysis 16 (D16Z3) satellite II SA, Cytocell subtel 16q TR / 88%
45 / 46,XX,t(2;11)(q37.1;q23.1) / 1C2T / Vysis subtel 2q SO, Vysis 11 alphasatellite SA, Cytocell subtel 11q FITC / 88%
46 / 46,XX,t(9;16)(q33.3;p13.11) / 1C2T / Abbot subtel 9q SO, Cytocell subtel 16p FITC, Vysis 16 (D16Z3) satellite II SA / 88%
47, 49 / 46,XX,t(11;22)q23.3;q11.2) / 1C2T / Cytocell subtel 11q TR, Vysis TUPLE 1 22q11.2 SO, Vysis ARSA 22q13.3 SG / 88%, 89%
48 / 46,XY,t(5;6)(q35.3;q24.2) / 1C2T / Cytocell subtel 5q FITC, Vysis 6 alphasatellite SA, Vysis subtel 6q SO / 93%
50 / 46,XX,t(4;19)(p16;p13.3) / 1C2T / Cytocell subtel 4p TR, Vysis 4 alphasatellite SA, Cytocell subtel 19 FITC / 89%
51 / 46,XY,t(2;14)(q32.2;23) / 1C2T / Oncor 2 alphasatellite (bio, Cy5), Vysis subtel 2q SO, Cytocell subtel 14q FITC / 91%
52 / 46,XX,t(14;18)(q11.2;q23) / 1C2T / Vysis subtel 14q SO, Vysis 18 alphasatellite SA, Cytocell subtel 18q FITC / 83%
53 / 46,XY,t(1;17)(q21.3;p13.3) / 1C2T / Cytocell subtel 1q TR, Vysis LIS1 17p13.3 SO, Vysis RARA 17q21.1 SG / 94%
54 / 46,XY,t(4;5)(p16;q35) / 1C2T / Cytocell subtel 4p TR, Vysis 4 alphasatellite SA, Cytocell subtel 5q FITC / 96%
55 / 46,XY,t(8;20)(p21.1;p13) / 1C2T / Vysis subtel 8p SG, CytCell subtel 20p TR, Vysis subtel 20q SO / 89%
56 / 46,XX,t(2;10)(q37.1;p13) / 1C2T / Vysis subtel 2q SO, Cytocell subtel 10p FITC, Vysis 10 alphasatellite SA / 93%
57 / 46,XY,t(14;16)(q32.3;p11.2) / 1C2T / Vysis subtel 14q SO, Cytocell subtel 16p FITC, Abbot Vysis 16 (D16Z3) satellite II SA / 89%
58 / 46,XY,t(9;11)(p13;q13.3) / 1C2T / Vysis subtel 9p SG, Vysis 11 alphasatellite SA, Cytocell subtel 11q TR / 86%
59 / 46,XY,t(4;9)(q31.2;q34.3) / 1C2T / Vysis subtel 4q SO, Vysis 9 alphasatellite SA, Vysis subtel 9q SO / 85%
Median (range) / 89% (73-96%)
AppendixII. FISH probe mixes specific for reciprocal translocation centric (C) and translocated (T) segments, and accuracy using diploid lymphocytes with normal copy number for the target regions.Biotin (bio), fluorescein isothiocyanate (FITC), SpectrumOrange (SO), SpectrumGreen (SG), SpectrumAqua (SA), TexasRed (TR), Live birth PGD pregnancy. With the exception of couple 52, the strategy deployed for 58/59 couples was to biopsy one cell from each embryo tested.
Couple / Cycles started / Female age (years) at cycle attempt / Cycle attempts and outcomes / Time elapsed (months) from referral letter to:1 / 2 / 3 / 4 / 5 / 6 / 7 / 8 / 9 / First
stimu-lation / Biopsy cycles / First delivery
First / First success / Last
1 / 2 / 36, 37 / C / G / 5 / 6 / 11 / 11 / 20
2 / 4 / 32, 34, 37, 38 / C / H / C / C / 5 / 6 / 13 / 13 / 21
3 / 6 / 35, 36,36, 36, 37, 37 / C / C / C / C / C / A5 / 22 / 23 / 43
4 / 1 / 39 / B / 12 / 13 / 13
5 / 4 / 30, 31, 31, 31 / A1 / B / B / C / 13 / 18 / 26
6 / 2 / 38, 38 / C / H / 11 / 11 / 21 / 21 / 29
7 / 1 / 41 / H / 12 / 13 / 13 / 13 / 21
8 / 2 / 26, 26 / A1 / C / 17 / 18 / 18
9 / 1 / 34 / A3 / 6
10 / 1 / 33 / G / 11 / 12 / 12 / 12 / 21
11 / 1 / 31 / C / 13 / 13 / 13
12 / 5 / 31, 31, 32, 33, 33 / B / B / C / D / B / 5 / 5 / 37
13 / 1 / 32 / A1 / 31
14 / 1 / 36 / G / 10 / 11 / 11 / 11 / 19
15 / 1 / 35 / A1 / 11
16 / 3 / 39, 40, 41 / A1 / B / B / 9 / 17 / 28
17 / 2 / 37, 37 / C / C / 8 / 9 / 15
18 / 3 / 33, 33, 34 / A1 / D / A4 / 30 / 45 / 45
19 / 1 / 30 / A1 / 16
20 / 3 / 35, 36, 36, 36 / C / G / C13 / B / 9 / 10 / 15 / 15 / 23
21 / 2 / 39, 39 / B / C / 9 / 9 / 13
22 / 1 / 35 / B / 18 / 19 / 19
23 / 1 / 37 / C / 25 / 26 / 26
24 / 3 / 32, 33, 38 / C / C / B / 16 / 16 / 68
25 / 1 / 33 / B / 25 / 25 / 25
26 / 2 / 32, 32 / C / B / 9 / 9 / 14
27 / 2 / 42, 42 / B / B / 11 / 13 / 16
28 / 1 / 36 / G / 10 / 11 / 11 / 11 / 18
29 / 1 / 35 / D / 28 / 29 / 29
30 / 2 / 32, 32 / D / H / 14 / 15 / 21 / 21 / 19
31 / 5 / 37, 37, 39, 39, 39 / A1 / G / C / B / G / 8 / 9 / 9 / 9 / 17
32 / 2 / 39, 39 / A7 / C / 23 / 26 / 26
33 / 1 / 34 / C / 15 / 27 / 27
34 / 3 / 32, 32, 32 / A1 / B / A1 / 12 / 16 / 16
35 / 3 / 30, 30, 34 / A1 / G / G / 13 / 17 / 17 / 70 / 26
36 / 2 / 33, 33 / B / E9 / 19 / 19 / 23
37 / 1 / 33 / B / 28 / 29 / 29
38 / 1 / 23 / C / 11 / 12 / 12
39 / 2 / 35, 37 / G / C / 14 / 15 / 15 / 42 / 23
40 / 3 / 32, 33, 34 / B / B / B / 17 / 17 / 41
41 / 1 / 34 / G / 22 / 23 / 23 / 23. / 31
42 / 1 / 37 / G / 12 / 13 / 13 / 13 / 21
43 / 3 / 39, 39, 40 / C / C / B / 7 / 7 / 13
44 / 3 / 32, 33, 33 / C / B / G / 8 / 8 / 17 / 17 / 26
45 / 3 / 41, 42, 43 / B / C / B / 31 / 31 / 51
46 / 2 / 32, 36 / G / G / 12 / 13 / 13 / 69 / 22
47 / 2 / 38, 39 / C / B / 14 / 15 / 20
48 / 2 / 31, 31 / A2 / H10 / 17 / 22 / 22 / 22 / 27
49 / 2 / 35, 35 / D / C / 14 / 14 / 19
50 / 5 / 31, 31, 31, 32, 32, 34 / C / G / C13 / A2 / A2 / G / 12 / 17 / 24 / 54 / 33
51 / 2 / 33, 33 / A1 / B / 19 / 22 / 22
52 / 3 / 27, 27, 28 / A2 / H / A1 / 11 / 20 / 20 / 20 / 28
53 / 8 / 35, 35, 36, 37, 37, 37, 38, 40, 41 / C / G / C / B / C / F12 / G / D13 / C / 12 / 13 / 17 / 60 / 26
54 / 1 / 36 / D / 23 / 24 / 24
55 / 2 / 41, 42 / D8 / B / 16 / 17 / 27
56 / 4 / 24, 27, 28, 31, 32, 32 / C / E11 / G / C13 / D / D13 / 17 / 17 / 36 / 87 / 44
57 / 1 / 36 / B / 16 / 17 / 17
58 / 1 / 36 / A6 / 15
59 / 2 / 39, 40 / B / C / 18 / 19 / 35
Appendix III. Outcomes and timescales for132 stimulation cycles and 5 frozen embryo replacement cycles for 59 reciprocal translocation couples.
Key: A – cancelled before biopsy; B - no transfer after biopsy; C -negative pregnancy test after transfer; D - positive pregnancy test only (biochemical); E - fetal heartbeat pregnancy loss; F – termination of pregnancy; G– singleton live birth delivery; H – twin live birth delivery
Notes:
1 – poor response, 2 – hyperstimulation risk, 3 – spontaneous ectopic pregnancy, 4 – E. coli infection, 5 – transfer without testing, 6 – arrested embryos, 7 – degenerated eggs, 8 – 5-week missed abortion, 9 – 12 weeks gestation miscarriage, karyotyping declined, 10 – 25 weeks twin delivery following spontaneous rupture of membranes at 18wks; one twin died at 48 hours and was not karyotyped, 11 – twin pregnancy miscarried at 19 weeks due to infection, male heterozygote and female normal for chromosome 13, 18, 21 & XX (partial PCR result only), 12 – termination of pregnancy following CVS at 10 wks gestation with 5.6mm NT & hydrops - 47,XY,+18, 13 – frozen embryo replacement cycle.
59 couples started
1st cycle
(a) 8/59 (0.136) couples had a live birth delivery
(b) 16 couples who were unsuccessful did not have another cycle
2nd cycle
(c) 11/35 (0.314) couples had a live birth delivery
(d) 12 couples who were unsuccessful did not have another cycle
(e) Estimated proportion of (b) who might have had a successful 2nd cycle = 16 x 0.314 = 5.024
(f) Unsuccessful couples carried forward who did not have another cycle = d + b – e = 22.976
(g) Estimated cumulative live birth deliveries = (a) + (c) + (e) = 24.024 [41% of couples started]
3rd cycle
(h) 2/12 (0.167) couples had a live birth delivery
(i) 7 couples who were unsuccessful did not have another cycle
(j) Estimated proportion of (f) who might have had a successful 3rd cycle = 22.976 x 0.167 = 3.837
(k) Unsuccessful couples carried forward who did not have another cycle = (i) + (f) – (j) = 26.139
(l) Estimated cumulative live birth deliveries = (g) + (h) + (j) = 29.861 [51% of couples started, 145 cycles]
4th cycle
(m) 0/3 (0%) couples had a live birth delivery
(n) 1 couple who was unsuccessful did not have another cycle
(o) Estimated proportion of (k) who might have had a successful 4th cycle = 26.139 x 0 = 0
(p) Unsuccessful couples carried forward who did not have another cycle = 1 + 26.139 = 27.139
(q) Estimated cumulative live birth deliveries = (l) + (m) + (o) = 29.861 [51% of couples started]
5th cycle
(r) 0/2 (0%) couples had a live birth delivery
(s) 1 couple who was unsuccessful did not have another cycle
(t) Estimated proportion of (p) who might have had a successful 5th cycle = 27.139 x 0 = 0
(u) Unsuccessful couples carried forward who did not have another cycle = 1 + 27.139 = 28.139
(v) Estimated cumulative live birth deliveries = (q) + (r) + (t) = 29.861 [51% of couples started]
6th cycle
(w) 0/1 (0%) couples had a live birth delivery
(x) 1 couple who was unsuccessful did not have another cycle
(y) Unsuccessful couples who did not have another cycle = 1 + 28.139 = 29.139
(z) Estimated cumulative live birth deliveries = (v) + (w) = 29.861 [51% of couples started, 232 cycles]
Appendix IV. Calculation of the estimated cumulative first live birth deliveries, without replacement,assuming that couples who did not return for subsequent treatment cycles would have had the same chance of success as those who did
Predictors of live birth / Live birth / Odds Ratio59 couples, 79 stimulated cycles / Yes / No / % / Crude / 95% CI / p / Adjusted1 / 95% CI / p
Oocytes retrieved (4 - 39) / 19 / 40 / 32.2 / 1.0 / 0.92 - 1.10 / 0.96 / - / - / -
Embryos biopsied (1 - 18) / 19 / 40 / 32.2 / 1.13 / 0.98 - 1.30 / 0.075 / - / - / -
Age (26 - 42 years) / 19 / 60 / 24.1 / 0.98 / 0.86 - 1.11 / 0.724 / - / - / -
Chronology (stimulation date) / 19 / 60 / 24.1 / 0.86 / 0.64 – 1.15 / 0.314 / - / - / -
<38 years v / 17 / 41 / 29.3 / 3.94 / 0.83 - 18.80 / 0.059 / - / - / -
>37 years / 2 / 19 / 9.5
Male carrier v / 8 / 24 / 25.0 / 1.09 / 0.38 - 3.11 / 0.871 / 1.06 / 0.36 - 3.10 / 0.150
Female carrier / 11 / 36 / 23.4
Fertile v / 14 / 41 / 25.5 / 1.30 / 0.41 - 4.13 / 0.446 / 1.54 / 0.47 - 5.04 / 0.116
Infertile / 5 / 19 / 20.8
>2 spontaneous abortions v / 9 / 29 / 23.7 / 0.96 / 0.34 - 2.70 / 0.999 / 1.29 / 0.44 - 3.82 / 0.136
<3 spontaneous abortions / 10 / 31 / 24.4
>1 embryo transferred v / 16 / 16 / 50.0 / 5.0 / 1.21 - 20.69 / 0.019 / 5.38 / 1.26 - 23.0 / 0.023
1 embryo transferred / 3 / 15 / 16.7
>1 transferable embryos v / 17 / 16 / 51.5 / 7.97 / 1.57 - 40.50 / 0.006 / 8.49 / 1.62 - 44.44 / 0.011
1 transferable embryos / 2 / 15 / 11.8
Predictors of miscarriage / Spontaneous abortion / Odds Ratio
79 stimulated cycles / Yes / No / % / Crude / 95% CI / p / Adjusted1 / 95% CI / p
<38 years v / 5 / 53 / 8.6 / 1.89 / 0.21 - 17.16 / 0.492 / - / - / -
>37 years / 1 / 20 / 4.8
Male carrier v / 3 / 29 / 9.4 / 1.52 / 0.29 - 8.04 / 0.467 / 1.50 / 0.28 - 7.97 / 0.748
Female carrier / 3 / 44 / 6.4
Fertile v / 2 / 53 / 3.6 / 0.19 / 0.03 - 1.11 / 0.066 / 0.20 / 0.03 - 1.18 / 0.153
Infertile / 4 / 20 / 16.7
>2 spontaneous abortions v / 1 / 37 / 2.6 / 0.17 / 0.02 - 1.60 / 0.119 / 0.20 / 0.02 - 1.93 / 0.243
<3 spontaneous abortions / 5 / 36 / 12.2
>1 embryo transferred v / 2 / 30 / 6.3 / 0.23 / 0.04 - 1.43 / 0.114 / 0.23 / 0.04 - 1.43 / 0.248
1 embryo transferred / 4 / 14 / 22.2
>1 transferable embryos v / 2 / 31 / 6.1 / 0.21 / 0.03 - 1.29 / 0.093 / 0.21 / 0.03 - 1.28 / 0.200
1 transferable embryos / 4 / 13 / 23.5
Appendix V. Predictors of live birth and miscarriage. A subgroup analysis of 79 stimulated cycles between April 1999 and July 2006.
1Logistic regression model adjusted for age and elective singleembryo transfer
Biopsy (index) result / COD (reference standard) / Frequency / Final assignmentNormal / Failed / 7 / Normal
Normal / None / 80 / Normal
Normal / Normal/balanced / 23 / Normal
Normal / Normal/balanced offspring / 26 / Normal
Normal / Normal/balanced, 2n/4n / 1 / Normal
Sub total / 137 (22%)
Abnormal / Unbalanced / 188 / Abnormal
Abnormal / Unbalanced, 2n/4n / 20 / Abnormal
Abnormal / Unbalanced, 3n / 3 / Abnormal
Abnormal / Unbalancedl, 3n, complex / 4 / Abnormal
Abnormal / Unbalanced, 4n / 3 / Abnormal
Abnormal / Unbalanced, 4n, complex / 1 / Abnormal
Abnormal / Unbalanced, chaotic / 41 / Abnormal
Abnormal / Unbalancedl, fragmented / 28 / Abnormal
Abnormal / Unbalanced, mosaic / 36 / Abnormal
Abnormal / Unbalanced, mosaic, 2n/4n / 2 / Abnormal
Abnormal / Unbalanced, mosaic, 2n/4n/8n / 1 / Abnormal
Abnormal / Failed / 43 / Abnormal (48)/Normal (6)
Abnormal / None / 11
Abnormal / Normal/balanced / 15 / Normal
Abnormal / Normal/balanced, 2n/4n / 7 / Normal
Abnormal / Normal/balanced, mosaic / 16 / Normal
Abnormal / Normal/balanced, mosaic, 2n/4n / 2 / Normal
Sub total / 421 (67%)
Failed / Unbalanced / 15
Failed / Unbalancedl, 1n / 1
Failed / Unbalanced, chaotic / 3
Failed / Unbalancedl, fragmented / 2
Failed / Unbalanced, mosaic / 4
Failed / Failed / 22a
Failed / None / 3a
Failed / Normal/balanced / 9
Failed / Normal/balanced, 2n/4n / 5
Failed / Normal/balanced, mosaic / 2
Failed / Normal/balanced, mosaic, 2n/4n / 2
Sub total / 68 (11%)
Total / 626
Appendix VI.Test and confirmation of diagnosis results
COD – confirmation of diagnosis
a – based on the other failed results these 25 embryos could be allocated as 10 normal and 15 abnormal
Measures / Calculation / % / 95% CITrue positive / 375/558 / 67 / 63-71
True negative / 137/558 / 25 / 21-28
False positive / 46/558 / 8 / 6-11
False negative / 0/558 / 0 / 0–1
Accuracy / 512/558 / 92 / 89–94
Sensitivity / 375/375 / 100 / 99-100
Specificity / 137/183 / 75 / 69–82
Prevalence / 375/558 / 67 / 63-71
Positive predictive value / 375/421 / 89 / 86-92
Negative predictive value / 137/137 / 100 / 97-100
Sensitivity analysis
False negative / 4/558 / 1 / 0-2
Accuracy / 508/558 / 91 / 88-93
Sensitivity / 375/379 / 99 / 97-100
Prevalence / 379/558 / 68 / 64-72
Negative predictive value / 133/137 / 97 / 93-99
Appendix VII.. Diagnosis measures and sensitivity analysis
Couple / Female heterozygote / Alt / Adj-1 / Adj-2 / 3:1 / 4:0 / Ana II / Known / Unknown / Total1 / 46,XX,t(14;22)(q11.2;q13.3) / 7 / 0 / 3 / 1 / 0 / 0 / 11 / 10 / 21
2 / 46,XX,t(12;17)(p13;p13) / 19 / 13 / 1 / 4 / 0 / 0 / 37 / 27 / 64
3 / 46,XX,t(1;19)(q32.1;q13.1) / 12 / 5 / 2 / 6 / 1 / 0 / 26 / 13 / 39
4 / 46,XX,t(11;22)(q23.3;q11.2) / 0 / 0 / 0 / 1 / 0 / 0 / 1 / 1 / 2
7 / 46,XX,t(9;20)(q34.2;q11.2) / 5 / 3 / 0 / 0 / 0 / 0 / 8 / 0 / 8
8 / 46,XX,t(5;14)(p15.1;q32.1) / 4 / 2 / 0 / 2 / 0 / 0 / 8 / 8 / 16
10 / 46,XX,t(8;18)(p21.1;q21.1) / 2 / 0 / 0 / 0 / 0 / 0 / 2 / 5 / 7
11 / 46,XX,t(3;5)(p12;q14.2) / 0 / 1 / 0 / 0 / 0 / 0 / 1 / 2 / 3
14 / 46,XX,t(11;17)(p15.5;p13) / 1 / 3 / 0 / 0 / 0 / 0 / 4 / 1 / 5
16 / 46,XX,t(1;13)(q23;p11) / 0 / 2 / 0 / 1 / 0 / 0 / 3 / 0 / 3
17 / 46,XX,t(11;17)(p15.5;p13) / 7 / 4 / 0 / 5 / 0 / 0 / 16 / 2 / 18
21 / 46,XX,t(4;15)(q26;q13) / 4 / 3 / 1 / 2 / 0 / 0 / 10 / 0 / 10
22 / 46,XX,t(11;22)(q23.3;q11.2) / 1 / 0 / 0 / 0 / 0 / 0 / 1 / 0 / 1
23 / 46,XX,t(4;13)(p15.2;q22) / 1 / 3 / 0 / 0 / 0 / 0 / 4 / 0 / 4
26 / 46,XX,t(11;22)(q23.3;q11.2) / 6 / 1 / 1 / 4 / 0 / 0 / 12 / 8 / 20
27 / 46,XX,t(4;8)(q21.3;p21.3) / 0 / 3 / 1 / 1 / 0 / 0 / 5 / 3 / 8
29 / 46,XX,t(1;7)(p34.1;p14.3) / 1 / 3 / 0 / 0 / 0 / 0 / 4 / 0 / 4
30 / 46,XX,t(2;4)(p22.2;q33) / 4 / 6 / 0 / 0 / 0 / 0 / 10 / 1 / 11
32 / 46,XX,t(4;6)(p15.2;q13) / 2 / 3 / 2 / 0 / 0 / 0 / 7 / 0 / 7
33 / 46,XX,t(7;13)(q11.21;p13) / 5 / 0 / 0 / 2 / 0 / 0 / 7 / 5 / 12
34 / 46,XX,t(4;8)(p16.1;p23.1) / 0 / 1 / 0 / 0 / 0 / 0 / 1 / 1 / 2
35 / 46,XX,t(2;7)(q37.1;q32) / 3 / 1 / 1 / 1 / 0 / 0 / 6 / 1 / 7
37 / 46,XX,t(7;9)(q21.2;q33) / 0 / 0 / 1 / 1 / 0 / 0 / 2 / 0 / 2
40 / 46,XX,t(10;13)(q26.3;q21.2) / 0 / 2 / 1 / 0 / 0 / 1 / 4 / 4 / 8
41 / 46,XX,t(3;13)(q13.2;q12.1) / 6 / 0 / 3 / 2 / 0 / 0 / 11 / 1 / 12
44 / 46,XX,t(5;16)(p12;q23) / 6 / 1 / 0 / 4 / 0 / 0 / 11 / 1 / 12
45 / 46,XX,t(2;11)(q37.1;q23.1) / 0 / 1 / 0 / 2 / 0 / 0 / 3 / 1 / 4
46 / 46,XX,t(9;16)(q33.3;p13.11) / 5 / 5 / 0 / 0 / 0 / 0 / 10 / 0 / 10
47 / 46,XX,t(11;22)q23.3;q11.2) / 1 / 2 / 0 / 3 / 0 / 0 / 6 / 7 / 13
49 / 46,XX,t(11;22)(q23.3;q11.2) / 4 / 1 / 1 / 3 / 0 / 0 / 9 / 2 / 11
50 / 46,XX,t(4;19)(p16;p13.3) / 6 / 0 / 0 / 0 / 0 / 0 / 6 / 2 / 8
52 / 46,XX,t(14;18)(q11.2;q23) / 3 / 0 / 2 / 4 / 0 / 1 / 10 / 1 / 11
56 / 46,XX,t(2;10)(q37.1;p13) / 5 / 5 / 1 / 1 / 0 / 0 / 12 / 0 / 12
Sub total / 120 / 74 / 21 / 50 / 1 / 2 / 268 / 107 / 375
% / 44.8 / 27.6 / 7.8 / 18.7 / 0.4 / 0.7 / 71.5 / 28.5
Couple / Male heterozygote / Alt / Adj-1 / Adj-2 / 3:1 / 4:0 / Ana II / Known / Unknown / Total
5 / 46,XY,t(3;7)(q25.3;p22.1) / 4 / 1 / 3 / 1 / 0 / 0 / 9 / 3 / 12
6 / 46,XY,t(11;22)(q23.3;q11.2) / 7 / 3 / 3 / 0 / 0 / 0 / 13 / 1 / 14
12 / 46,XY,t(11;22)(q23.3;q11.2) / 9 / 6 / 5 / 3 / 1 / 0 / 24 / 21 / 45
18 / 46,XY,t(1;9)(p13.3;p13) / 3 / 2 / 2 / 2 / 0 / 0 / 9 / 3 / 12
20 / 46,XY,t(3;6)(q25;q23) / 8 / 10 / 2 / 2 / 0 / 0 / 22 / 5 / 27
24 / 46,XY,t(1;15)(q21;p11.2) / 5 / 6 / 0 / 0 / 0 / 0 / 11 / 4 / 15
25 / 46,XY,t(9;14)(p22;q22) / 1 / 2 / 2 / 1 / 0 / 0 / 6 / 6 / 12
28 / 46,XY,t(3;7)(q23;q36) / 3 / 1 / 3 / 0 / 0 / 0 / 7 / 0 / 7
31 / 46,XY,t(1;6)(p13.3;p22.2) / 6 / 4 / 2 / 3 / 0 / 0 / 15 / 5 / 20
36 / 46,XY,t(6;10)(q23.1;p13) / 4 / 4 / 1 / 0 / 0 / 0 / 9 / 0 / 9
38 / 46,XY,t(1;19)(p10;p10) / 2 / 0 / 0 / 0 / 0 / 0 / 2 / 6 / 8
39 / 46,X,t(Y;13)(q11.1;q21.3) / 1 / 0 / 0 / 0 / 0 / 0 / 1 / 2 / 3
42 / 46,XY.t(11;15)(q13.3;q13) / 3 / 1 / 0 / 0 / 0 / 0 / 4 / 2 / 6
43 / 46,XY,t(9;12)(p24;p11.2) / 4 / 3 / 2 / 0 / 0 / 0 / 9 / 2 / 11
48 / 46,XY,t(5;6)(q35.3;q24.2) / 5 / 6 / 0 / 0 / 0 / 0 / 11 / 0 / 11
51 / 46,XY,t(2;14)(q32.2;23) / 1 / 0 / 1 / 0 / 0 / 0 / 2 / 2 / 4
53 / 46,XY,t(1;17)(q21.3;p13.3) / 3 / 6 / 2 / 0 / 0 / 0 / 11 / 3 / 14
54 / 46,XY,t(4;5)(p16;q35) / 3 / 2 / 0 / 0 / 0 / 0 / 5 / 1 / 6
55 / 46,XY,t(8;20)(p21.1;p13) / 2 / 0 / 0 / 0 / 0 / 0 / 2 / 0 / 2
56 / 46,XY,t(14;16)(q32.3;p11.2) / 1 / 3 / 0 / 0 / 0 / 0 / 4 / 3 / 7
59 / 46,XY,t(4;9)(q31.2;q34.3) / 1 / 4 / 0 / 0 / 0 / 0 / 5 / 1 / 6
Sub total / 76 / 64 / 28 / 12 / 1 / 0 / 181 / 70 / 251
% / 42.0 / 35.4 / 15.5 / 6.6 / 0.6 / 0.0 / 72.1 / 27.9
Grand total / 196 / 138 / 49 / 62 / 2 / 2 / 449 / 177 / 626
% / 43.7 / 30.7 / 10.9 / 13.8 / 0.4% / 0.4 / 71.7 / 28.3
Appendix VIII.Possible meiotic segregation modes for individual translocations
Couple / Mosaic chromosome complements / Cell lines / Ratio (%) / DeviationAlternate segregation products
20 / A,A,B,B or A,der(A),B,der(B)[1]/4n[1] / N/4n / 50.0 / 2n/4n
42 / A,A,B,B or A,der(A),B,der(B)[1]/4n[2] / N/4n / 33.3 / 2n/4n
7 / A,A,B,B or A,der(A),B,der(B)[2]/4n[1] / N/4n / 66.7 / 2n/4n
6 / A,A,B,B or A,der(A),B,der(B)[4]/4n[2] / N/4n / 66.7 / 2n/4n
21 / A,A,B,B or A,der(A),B,der(B)[5]/4n[1] / N/4n / 83.3 / 2n/4n
38 / A,A,B,B or A,der(A),B,der(B)[14]/4n[3] / N/4n / 82.4 / 2n/4n
2 / A,A,B,B or A,der(A),B,der(B)[15]/4n[3] / N/4n / 83.3 / 2n/4n
18 / A,A,B,B or A,der(A),B,der(B)[21]/4n[4] / N/4n / 84.0 / 2n/4n
2 / A,A,B,B or A,der(A),B,der(B)[6]/4n[5] / N/4n / 54.5 / 2n/4n
48 / A,A,B,B or A,der(A),B,der(B)[7]/4n[1] / N/4n / 87.5 / 2n/4n
3 / A,A,B,B or A,der(A),B,der(B)[7]/4n[2] / N/4n / 77.8 / 2n/4n
1 / A,A,B,B or A,der(A),B,der(B)[7]/4n[3] / N/4n / 70.0 / 2n/4n
44 / A,A,B,B or A,der(A),B,der(B)[9]/4n[2] / N/4n / 81.8 / 2n/4n
7 / A,A,B,B[6]/4n[2]/A,A,B[7] / N/4n/U / 40.0 / -B/2n/4n
56 / A,A,B,B or A,der(A),B,der(B)[7]/4n[1]/A,B.B or der(A),B,der(B)[4] / N/4n/U / 29.2 / -A/2n/4n
1 / A,A,B,B or A,der(A),B,der(B)[7]/4n[2]/A,B,B or der(A),B,der(B)[15] / N/4n/U / 29.2 / -A/2n/4n
2 / A,der(A),B,der(B)[17]/4n[2]/A,B,der(B)[4] / N/4n/U / 73.9 / -der(A)/2n/4n
24 / A,A,B,B[5]/A,B,B[2]/A,A,B[3] / N/U / 50.0 / -B
12 / A,A,B,B or A,der(A),B,der(B)[5]/A,A,B or A,der(A),B[1] / N/U / 83.3 / -B
56 / A,der(A),B,der(B)[15]/A,A,B,del(Bp)[3] or A,der(A),B,der(B)[15]/A,B,der(B)[3] / N/U/U / 83.3 / -der(A) or del(Bp)
26 / A,der(A),B,der(B)[2]/A,der(A),B[2] / N/U / 50.0 / -der(B)
26 / A,der(A),B,der(B)[2]/A,der(A),B[2] / N/U / 50.0 / -der(B)
41 / A,der(A),B,der(B)[9]/A,der(A),B[5] / N/U / 64.3 / -der(B)
49 / A,A,B,B or A,der(A),B,der(B)[4]/A,B,B or der(A),B,der(B)[9] / N/U / 30.8 / -A
56 / A,A,B,B or A,der(A),B,der(B)[7]/A,B.B or der(A),B,der(B)[4] / N/U / 63.6 / -A
46 / A,A,B,B or A,der(A),B,der(B)[9]/A,B,B or der(A),B,der(B)[3] / N/U / 75.0 / -A
36 / A,A,B,B or A,der(A),B,der(B)[9]/A,B,B or der(A),B,der(B)[5] / N/U / 64.3 / -A
55 / A,A,B,B or A,der(A),B,der(B)[11]/A,B,B or derA),B,der(B)[3] / N/U / 78.6 / -A
22 / A,A,B,B or A,der(A),B,der(B)[2]/COMPLEX[2] / N/CU / 50.0 / complex
51 / A,A,B,B or A,der(A),B,der(B)[2]/COMPLEX[9[ / N/CU / 18.2 / complex
2 / A,A,B,B or A,der(A),B,der(B)[3]/COMPLEX[10] / N/CU / 23.1 / complex
5 / A,A,B,B or A,der(A),B,der(B)[3]/COMPLEX[4] / N/CU / 42.9 / complex
31 / A,A,B,B or A,der(A),B,der(B)[3]/COMPLEX[4] / N/CU / 42.9 / complex
49 / A,A,B,B or A,der(A),B,der(B)[4]/COMPLEX[9] / N/CU / 30.8 / complex
2 / A,A,B,B or A,der(A),B,der(B)[7]/COMPLEX[4] / N/CU / 63.6 / complex
Adjacent-1 segregation products
2 / A,A,B,der(B)[4]/4n[1] / U/U4n / 80.0 / 2n/4n
30 / A,A,B,der(B)[5]/4n[1] / U/U4n / 83.3 / 2n/4n
53 / A,A,B,der(B)[28]/4n[2] / U/U4n / 93.3 / 2n/4n
31 / A,A,B,der(B)[8]/4n[3] / U/U4n / 72.7 / 2n/4n
27 / A,A,B,der(B)[2]/A,A,B[2] / U/U / 50.0 / -der(B)
3 / A,A,B,der(B)[3]/A,A,B[3] / U/U / 50.0 / -der(B)
24 / A,A,B,der(B)[4]/A,A,B[2] / U/U / 66.7 / -der(B)
24 / A,A,B,der(B)[5]/A,A,B[1] / U/U / 83.3 / -der(B)
26 / A,A,B,der(B)[5]/A,A,B[3] / U/U / 62.5 / -der(B)
23 / A,A,B,der(B)[8]/A,A,B[2] / U/U / 80.0 / -der(B)
18 / A,A,B,der(B)[13]/A,A,B[2] / U/U / 86.7 / -der(B)
59 / A,A,B,der(B)[9]/A,A,der(B)[4] / U/U / 69.2 / -B
40 / A,A,B,der(B)[5]/A,B,der(B)[4] / U/U / 55.6 / -B
31 / A,A,B,der(B)[26]/A,B,der(B)[3] / U/U / 89.7 / -B
20 / A,A,B,der(B)[1]/A,B,der(B)[1]/A,A,A,der(B)[2] / U/U/U / 25.0 / -A/+A
17 / A,A,B,der(B)[2]/COMPLEX[7] / U/CU / 22.2 / complex
57 / A,der(A),B,B[2]/4n[1] / U/U4n / 66.7 / 2n/4n
23 / A,der(A),B,B[4]/4n[1] / U/U4n / 80.0 / 2n/4n
2 / A,der(A),B,B[9]/4n[2] / U/U4n / 81.8 / 2n/4n
56 / A,der(A),B,B[14]/4n[1] / U/U4n / 93.3 / 2n/4n
48 / A,der(A),B,B[18]/4n[2] / U/U4n / 90.0 / 2n/4n
53 / A,der(A),B,B[25]/4n[1] / U/U4n / 96.2 / 2n/4n
6 / A,der(A),B,B[8]/der(A),B,B[4] / U/U / 66.7 / -A
12 / A,der(A),B,B[5]/A,B,B[2] / U/U / 71.4 / -der(A)
29 / A,der(A),B,B[7]/A,B,B[5] / U/U / 58.3 / -der(A)
23 / A,der(A),B,B[7]/A,der(A)[3] / U/U / 70.0 / -B,-B
6 / A,A,der(A),der(A),B,B,B,B[2]/der(A),B,B[6] / U/U / 25.0 / -A/4n
54 / A,der(A),B,B[1]/A,der(A),B[3]/A,B,B[3] / U/U/U / 14.3 / -B/-der(A)
31 / A,der(A),B,B[12]/4n[1]/8n[1]/A,der(A),B[1]/A,der(A),B,B,B[1] / U/U/U/U4n/A8n / 75.0 / -B/+B/ 2n/4n/8n
21 / A,der(A),B,B[5]/A,del der(A),B,B[4] / U/U / 55.6 / del der(A)
42 / A,der(A),B,B[3]/COMPLEX[13] / U/CU / 18.8 / Complex
Adjacent-2 segregation products
18 / A,A,der(A),B[10]/4n[2] / U/U4n / 83.3 / 2n/4n
12 / A,A,der(A),B[3]/A,der(A),B[2] / U/U / 60.0 / -A
41 / A,A,der(A),B[5]/A,der(A),B[2] / U/U / 71.4 / -A
6 / A,B,B,der(B)[5]/4n[3] / U/U4n / 62.5 / 2n/4n
1 / A,B,B,der(B)[12]/4n[6] / U/U4n / 66.7 / 2n/4n
3 / A,B,B,der(B)[2]/A,B,B[2] / U/U / 50.0 / -der(B)
43 / A,B,B,der(B)[3]/A,B,B[5] / U/U / 37.5 / -der(B)
37 / A,B,B,B,[1]/4n[3] / U/U4n / 25.0 / 2n/4n
2 / A,B,B,B[2]/A,B,B[6] / U/U / 25.0 / -B
6 / A,B,B,B[6]/4n[4] / U/U4n / 60.0 / 2n/4n
49 / A,B,B,der(B)[6]/B,B,der(B)[8] / U/U / 42.9 / -A
40 / A,B,B,der(B)[2]/A,B,der(B)[1]/A,B,B[1] / U/U/U / 50.0 / -B/-der(B)
5 / A,B,B,der(B)[2]/COMPLEX[7] / U/CU / 22.2 / Complex
12 / A,der(A),der(A),B[5]/der(A),der(A),B[2] / U/U / 71.4 / -A
18 / A,B,der(B),der(B)[3]/A,B[7] / U/U / 22.2 / -der(B)-der(B)
52 / A,B,der(B),der(B)[9]/B,der(B),der(B)[3] / U/U / 75.0 / -A
3:1 segregation products
4 / A,B,B[1]/4n[2] / U/U4n / 33.3 / 2n/4n
49 / A,B,B[2]/4n[3] / U/U4n / 40.0 / 2n/4n
2 / A,B,der(B)[2]/4n[3] / U/U4n / 40.0 / 2n/4n
18 / A,B,der(B)[2]/A,B[4] / U/U / 33.3 / -der(B)
49 / A,A,der(A),B,B or A,der(A),der(A),B,der(B)[9]/der(A),der(A),B,der(B) or A,der(A),B,B[6] / U/U / 60.0 / -A
41 / A,A,B,B,der(B) or A,der(A),B,der(B),der(B)[1]/A,B,B,der(B) or der(A),B,der(B)[5] / U/U / 16.7 / -A
31 / A,A,B,B,der(B)[4]/A,A,B,der(B)[9] / U/U / 30.8 / -B
49 / A,A,B,B,der(B) or A,der(A),B,der(B),der(B)[6]/A,B,B,der(B) or der(A),B,der(B),der(B)[4]/4n[2] / U/U/U4n / 50.0 / -A/2n/4n
44 / A,der(A),B,B,der(B) or A,A,B,B,B[5]/4n[10] / U/U4n / 33.3 / 2n/4n
26 / A,der(A),B,B,der(B)[2]/A,der(A),B,der(B)[1]/A,der(A),B,B,B,der(B)[1] / U/U/U / 50.0 / -B/+B
12 / A,A,A,B,der(B)[2]/A,A,A[3]/A,A[1] / A/A/A / 33.3 / -B-der(B)/-B-der(B)-A
Anaphase II nondisjunction products
52 / A,B,B,der(B),der(B)[2]/4n[1] / U/U4n / 66.7 / 2n/4n
40 / A,A,A,der(A),B[4]/A,A,der(A),B[2] / U/U / 66.7 / -A
Appendix IX. Segregation modes of embryos with a mosaic chromosome complement.
Notes: The segregation mode for translocation chromosomes A and B is given first; N – normal or balanced; U – diploid unbalanced; CU – complex unbalanced; 2n – diploid; 4n – tetraploid