Table 3 Details of copy number variant identified by CMA in fetuses with increased NT
Case | NT(mm) | CNV position(Human GRCh37/hg19) | Size(Mb) | Genes affected/syndromes | Categorization | Pregnancy outcome |
|---|---|---|---|---|---|---|
1 | 3.0 | 4q35.1q35.2(186,167,916-187,842,570)x3 | 1.67 Mb dup | 10 OMIM genes | VOUS | Unknown |
2 | 3.3 | 7q31.31q36.3(120,072,971-159,119,707)x3, | 39.03 Mb dup, | 7q31.31qter duplication syndrome, | Pathogenic, | Therapeutic abortion |
18p11.32p11.31(136,227-3,251,461)x1 | 3.11 Mb del | 10 OMIM genes | VOUS | |||
3 | 6.4 | 18p11.32p11.23(136,227-7,216,195)x1, | 7.08 Mb del, | 18p deletion syndrome, | Pathogenic, | Therapeutic abortion |
18q11.2q23(24,858,577-78,013,728)x3 | 53.15 Mb dup | 18q11.2q23 duplication syndrome | Pathogenic, | |||
4 | 2.9 | 10p15.3(100,047-1,745,277)x4, | 1.64 Mb dup, | 10 OMIM genes, | VOUS, | Therapeutic abortion |
10p12.1p11.1(24,914,898-39,030,508)x2-3 | 14.11 Mb dup | 43 OMIM genes | Pathogenic | |||
5 | 3.1 | 2q37.3(239,198,046-242,782,258)x1, | 3.58 Mb del, | 2q37.3 deletion syndrome, | Pathogenic, | Therapeutic abortion |
18q21.1q23(44,353,417-78,013,728)x3 | 33.66 Mb dup | 89 OMIM genes | Pathogenic | |||
6 | 5.5 | 3q29(196,862,001-197,386,180)x3 | 524 Kb dup | 2 OMIM genes | VOUS | Delivery, normal |
7 | 2.8 | 15q13.2q13.3(31,098,690-32,915,723)x3 | 1.81 Mb dup | 7 OMIM genes | VOUS | Delivery, normal |
8 | 3.0 | 17p12(14,083,054-15,482,833)x1 | 1.4 Mb del | 5 OMIM genes | Pathogenic | Delivery, normal |
9 | 2.7 | 9p23(9,914,588-10,133,062)x1 | 218 Kb del | 1 OMIM genes | VOUS | Delivery, normal |
10 | 3.1 | 11q22.3(104,708,299-105,459,967)x3 | 752 Kb dup | 7 OMIM genes | VOUS | Delivery, normal |
11 | 2.8 | 1p13.2(112,802,599-113,868,278)x3 | 1.06 Mb dup | 8 OMIM genes | VOUS | Delivery, normal |
12 | 2.5 | 11p14.2p12(26,154,097-40,951,082)x1 | 14.79 Mb del | WAGR syndrome | Pathogenic | Therapeutic abortion |
13 | 3.2 | 8p22(15,258,183-15,968,982)x3 | 711 Kb dup | 2 OMIM genes | VOUS | Delivery, normal |
14 | 2.9 | 2q37.3(241,490,065-242,782,258)x1 | 1.29 Mb del | 25 OMIM genes | VOUS | Delivery, normal |
15 | 3.9 | 6q12(65,196,218-65,743,530)x1 | 547 Kb del | 1 OMIM genes | VOUS | Delivery, normal |
16 | 3.3 | 22q11.21(18,970,561-21,461,017)x3 | 2.49 Mb dup | 22q11.2 duplication syndrome | Pathogenic (nonpenetrance) | Delivery, normal |
17 | 5.2 | 5p15.33p15.31(113,576-9,149,369)x1, | 9.03 Mb del, | Cri du Chat Syndrome, | Pathogenic, | Therapeutic abortion |
5p15.31q11.1(9,153,500-49,475,697)x3 | 40.32 Mb dup | 5p15.31q11.1 duplication syndrome | Pathogenic | |||
18 | 2.5 | 9p24.3p23(208,454-9,085,530)x1, | 8.87 Mb del, | 34 OMIM genes, | Pathogenic, | Therapeutic abortion |
13q31.1q34(87,397,574_115,107,733)x3 | 27.71 Mb dup | 78 OMIM genes | Pathogenic | |||
19 | 2.8 | 12p11.21p11.1(32,407,341-34,897,417)x3, | 2.49 Mb dup, | 7 OMIM genes, | VOUS, | Delivery, normal |
12q11q12(37,856,237-42,720,825)x3 | 4.86 Mb dup | 11 OMIM genes | VOUS | |||
20 | 2.7 | 1q21.1(145,382,123-145,775,966)x1 | 394 Kb del | 14 OMIM genes | Likely pathogenic | Delivery, normal |
21 | 4.4 | 8q22.3q23.1(103,348,066-108,445,788)x1 | 5.09 Mb del | 17 OMIM genes | Likely pathogenic | Delivery, normal |
22 | 2.9 | 22q11.21(20,716,876-21,464,764)x3 | 748 Kb dup | 12 OMIM genes | VOUS | Delivery, normal |
23 | 4.4 | 9q22.32q31.1(97,430,110-102,801,381)x1 | 5.37 Mb del | 32 OMIM genes | Pathogenic | Therapeutic abortion |
