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) |