From: Clinical outcome of preimplantation genetic diagnosis and screening using next generation sequencing
Embryo | Embryo grade | Indications of PGD/PGS | NGS results | SNP-array results | qPCR validation |
---|---|---|---|---|---|
P05-1 | 5BB | 46,XX,t(1;2)(q23;q31) | seq 1q25.3 → qter(181509440–246832193)×3 | No aberration of 1 | 1(q25.3-qter) gain |
 |  |  | seq 2q31.3 → qter(182458386–242690112)×1 | arr 2q32 → qter(180777009–242650581) ×1 |  |
P06-1 | 5BB | AMA, RM | seq 2q22.1 → qter(137671536–238692973)×3 | arr 2q23.1 → q36.1(149105998–223098449)×3 | |
 |  |  | seq 5q12.3 → q35.3(65909293–180786350)×1 | arr 5q23.3 → qter(131821983–180629495)×1 |  |
 |  |  | seq 8q11.23 → q23.1(53409090–109384199)×3 | arr 8q12 → q23(56748900–112484426)×3 |  |
 |  |  | No aberration of 19 | arr 19q13.11 → qter(38709901–63731511)×1 | 19q13 normal |
 |  |  | seq 20q13.12 → qter(45325082–60016946)×1 | arr 20q11.21 → qter(30108048–62376958)×1 |  |
P06-4 | 5BC | AMA, RM | seq 2pter → p22.3(1–34106490)×3 | arr 2pter → p23(24048–2928815)×3 |  |
 |  |  | seq 12pter → p12.1(16037–25938212)×1 | arr 12pter → p12(50446–19567738)×1 |  |
 |  |  | seq 14q11.2 → q23.3(19373466–64143228)×1 | No aberration of 14 | 14(q11.2-q23.3) loss |
 |  |  | seq 16pter → qter(1606029–88555348)×3 | arr 16pter → q13(31010–48646787)×3 |  |
P07-3 | 3BC | 46,XX,inv(6)(p21q25) | No aberration of 2 | arr 2q10 → q13(94914686–110337634)×3 | 2(q10-q13) normal |
 |  |  | seq 19pter → qter(12244–63686007)×3 | arr 19pter → qter(1–63686007)×3 |  |
P21-1 | 5BC | 46,XY,t(8;18)(p11;q21) | seq 8pter → p12(384809–31731414)×1 | arr 8pter → p12(180568–33542048)×1 |  |
 |  |  | seq 18q22.1 → qter(62606544–75622883)×3 | arr 18q22.3 → qter(6906594–76115554)×3 |  |
 |  |  | seq Ypter → qter(2784907–27141653)×2 | No aberration of Y | Y chromosome gain |
P23-5 | 3BC | 46,XX,t(1;8)(q32;q22) | seq 4pter → p12(4–48354873)×3 | No aberration of 4 | 4p gain |
 |  |  | seq 8q21.3 → q24.22(92180303–135064173)×1 | arr 8q21.1-qter(113497800–146263569)×1 |  |
 |  |  | seq 12pter → qter(251302–132143742)×1 | arr 12pter → qter(50446–132287718)×1 |  |
 |  |  | seq 15pter → qter(776958–99963983)×3 | arr 15pter → qter(18427103–100192115)×3 |  |
 |  |  | seq 17pter → qter(444930–77158450)×1 | arr 17pter → qter(18901–78599918)×1 |  |
P24-1 | 5BB | 46,X,inv(X)(p11q22) | seq 3pter → qter(1–199501827)×3 | arr 3pter → qter(1–199501827)×3 |  |
 |  |  | seq 4pter → p15.1(3–35468007)×3 | No aberration of 4 | 4(pter-p15.1) gain |
 |  |  | seq 16pter → qter(1749–88827254)×3 | arr 16pter → qter(1–88827254)×3 |  |