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Table 1 Origin analysis of POC samples with segmental CNVs by parental karyotyping or FISH

From: A feasible diagnostic approach for the translocation carrier from the indication of products of conception

Case Array Results for POC samples MLPA results Maternal karyotype Paternal karyotype FISH Parents origin Medical history and follow-up
Parental inherited cases
 1 arr 6q27(165,051,708–170,914,297)× 1(5.8 Mb),
17p13.3p12(525–11,208,838)× 3 (11.2 Mb)
Del 6q (TBP-2)
Dup 17p (RPH3AL-2)
46,XX 46,XY Yes Maternal Detailed in this article
 2 arr 2q37.1q37.3(231,919,970–242,782,258)× 3(10.8 Mb),
17p13.3p12(525–13,548,932)× 1 (13.5 Mb)
Dup 2q (ATG4B-7)
Del 17p (RPH3AL-2)
46,XX 46,XY Yes Maternal Detailed in this article
 3 arr 13q31.1q34(80,538,198–115,019,701)×1 (34 Mb),
16q12.1q24.3(50,917,739–90,147,202)× 3 (39 Mb)
Del 13q (CDC16–8)
Dup 16q (GAS8–11)
46,XX 46,XY Yes Paternal 33 years old, G2P0 (inevitable abortion twice), turned to PGD (not performed yet)
 4 arr 4q32.2q35.2(164,135,613–190,957,460)× 1 (26.8 Mb),
6q27(167,838,939–170,914,297)× 3 (3 Mb)
Del 4q (FRG1–1)
Dup 6q (TBP-2)
46,XX,t(4;6)
(q31.3;q25)
46,XY No Maternal 30 years old, G2P0 (inevitable abortion twice), turned to PGD (4 embryos biopsied, 3 normal embryos), give birth to healthy twin boys on Feb 2016
 5 arr 4p16.3(68,345–2,749,375)× 1 (2.6 Mb),
9p24.3p13.1(208,454–38,787,479)× 3 (38.5 Mb)
Del 4p (PIGG-8)
Dup 9p (DOCK8–24)
46,XX,t(4;9)
(p16.3;p13)
46,XY No Maternal 30 years old, G1P0 (inevitable abortion once), recently have a healthy boy (no karyotype information)
 6 arr 8p23.3p22(158,048–14,429,347)×1 (14.2 Mb),
12p13.33p12.2(173,786–21,214,526)× 3 (21 Mb)
Del 8p (FBXO25–8)
Dup 12p (KDM5A-23)
46,XX 46,XY,t(8;12)
(p22;p12)
No Paternal 31 years old, G2P0 (inevitable abortion twice)
 7 arr 3q29(195,718,751–197,851,444)×3 (2.1 Mb),
18q21.1q23(47,069,039–78,013,728)× 1 (30.9 Mb)
Dup 3q (KIAA0226–2)
Del 18q (CTDP1–9)
46,XX,t(3;18)
(q29;q21.1)
46,XY No Maternal 32 years old, G2P0 (inevitable abortion twice), turn to PGD (8 embryos biopsied, no normal embryos)
 8 arr 1p36.33(849,466–1,130,311)×1 (281 kb),
7q31.33q36.3(126,696,825–159,119,707)× 3 (32.4 Mb)
Del 1p (TNFRSF18–4)
Dup 7q (VIPR2–2)
46,XX 46,XY,t(1;7)
(p36.3;q32)
No Paternal 34 years old, G2P0 (inevitable abortion twice)
 9 arr 10q25.3q26.3(18,616,597–135,434,149)×3 (16 Mb),
11p15.5(196,990–46,712,144)× 1 (46 Mb)
Dup 10q (ECHS1–8)
Del 11p (BET1L-3)
46,XX,t(10;11)
(q26;p13)
46,XY No Maternal 37 years old, G1P0 (inevitable abortion once), turned to PGD (2 embryos biopsied, no normal embryos)
 10 arr 8p23.3p12(158,048–30,640,081)×1 (30.5 Mb),
16q23.2q24.3(81,433,414–90,155,062)× 3 (8.7 Mb)
Del 8p (FBXO25–8)
Dup 16q (GAS8–11)
46,XX 46,XY,t(8;16)
(p21;q24)
No Paternal 31 years old, G2P0 (inevitable abortion twice)
De novo cases
 11 arr 7p22.3p21.3(43,376–13,484,133)×3 (13.4 Mb),
21q22.3(46,873,868–48,093,361)× 1 (1.2 Mb)
Dup 7p (SUN1–5)
Del 21q (S100B-2)
46,XX 46,XY Yes De novo 25 years old, G1P0 (inevitable abortion once)
 12 arr 15q26.1q26.3(92,007,796–102,429,040)×1 (10.4 Mb),
20p13p12.2(61,661–10,622,608)× 3 (10.5 Mb)
Del 15q (TM2D3–3)
Dup 20p (ZCCHC3–1)
46,XX 46,XY Yes De novo 30 years old, G3P0 (inevitable abortion three times)
 13 arr 2q37.3(240,574,853–242,783,384)×1 (2 Mb),
14q32.31q32.33(102,767,052–107,152,784)× 3 (4 Mb)
Del 2q (ATG4B-7)
Dup 14q (MTA1–7)
46,XX 46,XY Yes De novo 30 years old, G2P0 (inevitable abortion twice)
 14 arr 3p26.3p25.3(61,891–10,459,934)×1 (10.3 Mb),
9p24.3p21.3(208,454–21,834,597)× 3 (21.6 Mb)
Del 3p (CHL1–3)
Dup 9p (DOCK8–24)
46,XX 46,XY Yes De novo 38 years old, G1P0 (inevitable abortion once), recently have a healthy girl (no karyotype information)
 15 arr 3p26.3p26.1(61,891–7,990,630)× 1 (7.9 Mb),
7q34q36.3(139,958,543–159,119,707)×2~ 3 (19.1 Mb)
Del 3p (CHL1–3) 46,XX 46,XY,inv.(1)
(p13;q21)
No De novo 34 years old, G1P0 (inevitable abortion once), recently have a healthy boy (no karyotype information)
 16 arr 3p26.3p21.2(61,891–52,187,541)×3 (52 Mb),
11q24.1q25(121,869,825–134,937,416)× 1 (13 Mb)
Dup 3p (CHL1–3)
Del 11q (IGSF9B-20)
46,XX 46,XY No De novo 32 years old, G2P1 (inevitable abortion once), recently have a healthy boy (no karyotype information)