Table 4 Details of 40 cases with pCNVs
From: Experience of copy number variation sequencing applied in spontaneous abortion
Case | Maternal age | CNV-seq Results | Size range | Pathogenicity category | Associated syndrome |
|---|---|---|---|---|---|
1 | 28 | seq[hg19]dup(17)(p13.3) | 0.38Mb | pathogenic | SHFLD3 syndrome |
2 | 29 | seq[hg19]dup(16)(p13.3) | 1.65Mb | pathogenic | Â |
3 | 24 | seq[hg19]del(X)(p22.13) | 1.34Mb | pathogenic | Epileptic encephalopathy, early infantile, |
4 | 30 | seq[hg19]del(21)(q11.2q21.3) | 16.0Mb | pathogenic | / |
| Â | Â | seq[hg19]dup(20)(p12.1q13.33) | 47.42Mb | pathogenic | / |
5 | 29 | seq[hg19]del(1)(q43q44) | 5.76Mb | pathogenic | MENTAL RETARDATION, AUTOSOMAL DOMINANT 22 |
| Â | Â | seq[hg19]dup(2)(q35q37.3) | 23.88Mb | pathogenic | Syndactyly, type 1, with or without craniosynostosis |
6 | 31 | seq[hg19]dup(2)(p25.3q14.2) | 121.92Mb | pathogenic | / |
| Â | Â | seq[hg19]dup(16)(p13.3p12.3) | 17.30Mb | pathogenic | 16p13.3 duplication syndrome |
7 | 26 | seq[hg19]del(8)(p23.3p21.2) | 26.18Mb | pathogenic | 8p23.1 deletion syndrome |
| Â | Â | seq[hg19]dup(4)(q28.1q35.2) | 62.90Mb | pathogenic | / |
8 | 29 | seq[hg19]del(3)(q21.3q22.1) | 2.96Mb | pathogenic | Immunodeficiency 21 |
9 | 32 | seq[hg19]del(7)(q35q36.3) | 12.38Mb | pathogenic | / |
| Â | Â | seq[hg19]dup(7)(q32.3q35) | 12.46Mb | pathogenic | / |
10 | 25 | seq[hg19]del(4)(q34.3q35.2) | 13.02Mb | pathogenic | / |
| Â | Â | seq[hg19]dup(9)(p24.3p13.1) | 38.58Mb | pathogenic | / |
11 | 29 | seq[hg19]del(4)(p16.3p16.1) | 5.98Mb | pathogenic | Wolf-Hirschhorn syndrome |
12 | 25 | seq[hg19]del(22)(q13.3) | 1.5Mb | pathogenic | / |
13 | 31 | seq[hg19]dup(2)(p25.3q35) | 217.86Mb | pathogenic | 2q31.1 duplication syndrome |
| Â | Â | seq[hg19]dup(8)(q24.11q24.3) | 28.18Mb | pathogenic | / |
14 | 29 | seq[hg19]del(16)(p13.3) | 1.64Mb | pathogenic | / |
15 | 36 | seq[hg19]dup(7)( q31.1-q31.33) | 18.6Mb | pathogenic | / |
16 | 29 | seq[hg19]dup(18)(p11.32q23) | 75.90Mb | pathogenic | / |
17 | 28 | seq[hg19]del(15)(q26.2q26.3) | 4.62Mb | pathogenic | 15q26-qter deletion syndrome |
18 | 25 | seq[hg19]del(8)(p23.3p23.2) | 5.05Mb | pathogenic | / |
19 | 27 | seq[hg19]del(X)(p22.33) | 0.88Mb | pathogenic | / |
20 | 29 | seq[hg19]del(4)(p16.3) | 3.005Mb | pathogenic | Wolf-Hirschhorn syndrome |
| Â | Â | seq[hg19]del(4)(p16.3p15.1) | 25.22Mb | pathogenic | / |
| Â | Â | seq[hg19]dup(4)(p15.1p13) | 10.451Mb | VOUS | / |
21 | 26 | seq[hg19]del(Y)q11.1-q11.23) | 15.68Mb | pathogenic | / |
22 | 30 | seq[hg19]dup(7)(q31.33q34) | 15.225Mb | pathogenic | / |
| Â | Â | seq[hg19]del(7)(q34q36.3) | 17.5Mb | pathogenic | Kleefstra syndrome 2, Holoprosencephaly 3 Currarino syndrome |
23 | 30 | seq[hg19]del(5)(p15.33p14.3) | 22.8Mb | pathogenic | Cri du Chat syndrome |
24 | 31 | seq[hg19]del(X)( p22.31) | 1.80Mb | pathogenic | / |
25 | 27 | seq[hg19]del(8)(p23.3q11.1) | 46.85Mb | pathogenic | Monosomy 8p syndrome |
| Â | Â | seq[hg19]dup(8)(q11.1q24.3) | 99.355Mb | pathogenic | Trisomy 8q syndrome |
26 | 30 | seq[hg19]dup(22)(q13.2q13.31), | 750Kb | VOUS | / |
| Â | Â | seq[hg19]del(22)(q13.31q13.33) | 6.9Mb | pathogenic | Phelan-McDermid syndrome |
27 | 31 | seq[hg19]del(8)(p23.3p23.1) | 6.8Mb | VOUS | / |
| Â | Â | seq[hg19]dup(8)(p12p12) | 1.45Mb | VOUS | / |
| Â | Â | seq[hg19]del(8)(p23.1p12) | 22.25Mb | pathogenic | / |
| Â | Â | seq[hg19]dup(8)(p11.1q24.3) | 102.455Mb | pathogenic | Trisomy 8q syndrome |
28 | 30 | seq[hg19]dup(11)(q13.1q13.2) | 1.8Mb | pathogenic | / |
29 | 31 | seq[hg19]dup(12)(q24.11q24.33) | 24.35Mb | pathogenic | / |
30 | 26 | seq[hg19]dup(6)(p25.3q13) | 74.95Mb | pathogenic | Trisomy 6p syndrome |
31 | 25 | seq[hg19]dup(16)( q21q24.3) | 28.25Mb | pathogenic | / |
| Â | Â | seq[hg19]del(10)( q21q24.3) | 4.1Mb | pathogenic | / |
32 | 27 | seq[hg19]del(4)(p16.3p16.1) | 9.124Mb | pathogenic | Wolf-Hirschhorn syndrome |
| Â | Â | seq[hg19]dup(4)(p11q35.2) | 141.37Mb | pathogenic | / |
33 | 30 | seq[hg9]del(X)(p21.1) | 450Kb | pathogenic | / |
34 | 32 | seq[hg19]del(7)(q34q36.3) | 49.775Mb | pathogenic | / |
| Â | Â | seq[hg19]dup(7)(q21.2q34) | 16.85Mb | pathogenic | Kleefstra syndrome 2 Holoprosencephaly 3 Currarino syndrome |
35 | 28 | seq[hg19]dup(16)(p11.2) | 850Kb | pathogenic | 16p11.2 duplication syndrome |
36 | 25 | seq[hg19]del(8)(p23.3p12) | 35.6Mb | pathogenic | Â |
37 | 28 | seq[hg19]dup(5)(p15.33p15.2) | 12.85Mb | pathogenic | Jacobsen syndrome |
| Â | Â | seq[hg19]del(11)(q24.1q25) | 14.95Mb | pathogenic | / |
38 | 25 | seq[hg19]del(4)(p16.3p15.32) | 17.57Mb | pathogenic | Wolf-Hirshhorn syndrome |
39 | 29 | seq[hg19]dup(6)(q23.2q27) | 39.75Mb | pathogenic | / |
40 | 31 | seq[hg19]dup(1)(p36.33p36.32) | 1.65Mb | pathogenic | / |
| Â | Â | seq[hg19]del(15)(q26.1q26.3) | 8.25Mb | pathogenic | / |