Table 2 Comparison of results between cytogenetic karyotyping and CNV-Seq
cytogenetic karyotyping | CNV | P value | ||||||||||
|---|---|---|---|---|---|---|---|---|---|---|---|---|
None (n = 4851) | B (n = 38) | LB (n = 3465) | VUS (n = 304) | LP (n = 23) | P-del/dup (n = 118) | Auto A (n = 446) | Auto A M (n = 18) | Sex A (n = 156) | Sex A M (n = 33) | Total (n = 9452) | ||
Normal | 4666 (96.2) | 36 (94.7) | 3355 (96.8) | 289 (95.1) | 22 (95.7) | 60 (50.8) | 0 (0.0) | 1 (5.6) | 1 (0.6) | 1 (3.0) | 8431 (89.2) | < 0.001 |
DS | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 358 (80.3) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 358 (3.8) | |
ES | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 55 (12.3) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 55 (0.6) | |
PS | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 12 (2.7) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 12 (0.1) | |
XXX | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 27 (17.3) | 1 (3.0) | 28 (0.3) | |
XYY | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 33 (21.2) | 0 (0.0) | 33 (0.3) | |
XXY | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 72 (46.2) | 0 (0.0) | 72 (0.8) | |
mark | 2 (0.0) | 1 (2.6) | 2 (0.1) | 2 (0.7) | 0 (0.0) | 2 (1.7) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 9 (0.1) | |
Turner | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 11 (7.1) | 2 (6.1) | 13 (0.1) | |
Sex A Mosaic | 4 (0.1) | 0 (0.0) | 4 (0.1) | 1 (0.3) | 0 (0.0) | 2 (1.7) | 0 (0.0) | 0 (0.0) | 3 (1.9) | 28 (84.8) | 42 (0.4) | |
Auto A Mosaic | 2 (0.0) | 0 (0.0) | 1 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 2 (0.4) | 16 (88.9) | 0 (0.0) | 0 (0.0) | 21 (0.2) | |
Translocation | 47 (1.0) | 0 (0.0) | 23 (0.7) | 3 (1.0) | 0 (0.0) | 1 (0.8) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 74 (0.8) | |
Polymorphism | 102 (2.1) | 0 (0.0) | 63 (1.8) | 5 (1.6) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 1 (5.6) | 0 (0.0) | 0 (0.0) | 171 (1.8) | |
Triploid | 2 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 2 (0.0) | |
Unbalance | 0 (0.0) | 0 (0.0) | 0 (0.0) | 2 (0.7) | 0 (0.0) | 49 (41.5) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 51 (0.5) | |
No results # | 14 (0.3) | 1 (2.6) | 9 (0.3) | 2 (0.7) | 1 (4.3) | 2 (1.7) | 18 (4.0) | 0 (0.0) | 5 (3.2) | 0 (0.0) | 52 (0.6) | |
Sex and other | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 2 (1.7) | 1 (0.2) | 0 (0.0) | 4 (2.6) | 1 (3.0) | 8 (0.1) | |
Others | 12 (0.2) | 0 (0.0) | 8 (0.2) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 0 (0.0) | 20 (0.2) | |