Table 3 The true-positive cases of microdeletions/microduplications results
Case | NIPT result CNV location (M) or Z-score | CVS | FISH | Pathogenicity |
|---|---|---|---|---|
Case 1 | 2Z=17.503 | 46,XY | 47,XN+2[15]/46,XN[85] | / |
Case 2 | 4p16.3-12(dup:0.1Mb-48Mb);8p23.3-23.2(del:1-4Mb) | 46,XX,der(8)t(4;8)(p12;p23)pat | / | Wolf-Hirschhorn syndrome [35] |
Case 3 | 6q26-q27(dup:143 Mb-158Mb);6q25.3-27(del:162Mb-171Mb) | 46,XN,del(6)(q26) | 46,XN,del(6) | Leigh-like syndrome [36] |
Case 4 | 7Z=28.110 | 46,XY | 7q31.1 (110.82Mb-111.12Mb)×1 | NA |
Case 5 | 8p23.1-11(dup:2Mb-37Mb) | 46,XN,der(15)t(8;15)(p11.2;p12)pat | / | Myeloproliferative syndrome [37] |
Case 6 | 10q26(del:127 Mb-133Mb) | 46,XY,del(10)(q26.13) | / | Chromosome 10q26 deletion syndrome [38] |
Case 7 | 14q24.3-q32.33(del:44 Mb-105 Mb) | 46,XN,del(14) | / | Deafness [39] |
Case 8 | 15q11.2-q13(dup:24 Mb-31Mb) | 47,XN,dup(15)(q13) | / | NA |
Case 9 | 18q22.3-q23(del:72 Mb-77.98Mb) | 46,XN,del(18)mat | 46,XN,del(8) | NA |
Case 10 | 21q11(dup:15 Mb-16Mb) | 46,XY | 46,XN,dup(21q11.2)(15.4Mb-15.72Mb)×3 | NA |
Case 11 | 21q11.2-q21(dup:15 Mb-25Mb) | 47, XN,dup(21)(q21.2)mat | / | Usher syndrome [40] |
Case 12 | 22q11(dup:17.46Mb-21.52Mb) | 47,XY,der(22) | 46,XN,dup(22q11.1-q11.21)(17.42Mb-21.46Mb)×4 | DiGeorge syndrome (DGS) [41] |
Case 13 | XZ=-17.652 YZ=-0.782 | 46,X,del(X)(q21),1qh+ | / | / |