Table 1 CNVs identified by SNP-array in spontaneous abortions
From: Genetic analysis of products of conception using a HLPA/SNP-array strategy
No. | SNP-array result | Type | Interpretation |
|---|---|---|---|
1 | 2p25.3p24.1 (2,506,047-23,993,512)x4, 21.49Mb; 2p25.3 (12,770-2,500,096)x1, 2.49Mb; 17q21.2q25.3 (39,043,284-81,041,823)x2-3; 42Mb, 30%. | Mosaic duplication, duplication&deletion | Pathogenic |
2 | 10q26.11q26.3 (121,370,630-135,426,836)x3, 14.06Mb; 12q24.33 (131,262,269-133,257,821)x3, 1.99Mb. | Duplication | Pathogenic |
3 | Xq13.1q21.31 (71,514,629-88,581,567)x1-2, 17Mb, 22%. | Mosaic deletion | VOUS |
4 | 19p13.3p12(260,911-22,318,810)x1-2, 22Mb, 27%. | Mosaic deletion | VOUS |
5 | 6q23.2q27(133,299,322-170,914,297)x1-2, 37.62Mb, 53%; 6q25.3 (159,279,821-160,261,361)x3, 0.98Mb; 6q25.3q27(160,264,660-164,813,573)x1, 4.55Mb; 6q27(164,836,468-166,972,621)x3, 2.14Mb; 6q27(166,973,398-170,914,297)x1, 3.94Mb. | Mosaic deletion, duplication&deletion | Pathogenic |
6 | 15q25.1q26.3 (79,052,984-102,429,040)x2-3, 23.38Mb, 32% | Mosaic duplication | VOUS |
7 | 7q33q36.3 (134,801,449-159,119,707)x1, 24.32Mb, 7q terminal deletion syndrome; 11q21q25(96,159,484-134,937,416)x3, 38.78Mb, 11q terminal duplication syndrome. | Duplication&deletion | Pathogenic |
8 | 19q12(28,870,035-29,879,116)x4, 1.00Mb | Duplication | Likely benign, maternal origin |
9 | 7q36.3 (155,329,202-157,529,779)x4, 2.20Mb; 7q36.3 (157,536,855-158,879,019)x1, 1.34Mb; 19p13.3p12(260,911-58,956,816)x1-2, chr19, 34%. | Mosaic deletion, duplication&deletion | Pathogenic, de novo |
10 | Xp22.31 (7,143,928-7,690,002)x1, 0.55Mb | Deletion | Likely benign |
11 | 18p11.21 (13,800,292-14,348,385)x3, 0.55Mb | Duplication | Likely benign |
12 | 9p24.3p21.1 (208,454-28,535,563)x2-3, 28.32Mb, 58%; 18q21.31q23(54,265,846-78,013,728)x1, 23.74Mb; 18q21.2q21.31 (50,986,553-54,069,099)x3, 3.08Mb | Mosaic duplication, duplication&deletion | Pathogenic |
13 | 4q31.23q35.2 (149,107,084-190,957,460)x3, 41.85Mb; 7q34q36.3 (143,084,599-159,119,707)x1, 16.04Mb | Duplication&deletion | Pathogenic |
14 | Xp22.31 (6,455,150-8,135,568)x2, 1.68Mb. | Duplication | Likely benign, maternal origin |
15 | 1p22.2 (89,523,245-91,159,433)x1, 1.64Mb. | Deletion | VOUS |
16 | 7q22.1q36.3 (101,562,358-159,119,707)x2-3, 57.56Mb, 37%. | Mosaic duplication | VOUS |
17 | 5p15.33p13.3 (113,576-29,104,386)x3, 28.99Mb; 13q22.3q34(77,782,493-115,011,636)x1, 37.23Mb. | Duplication&deletion | Pathogenic |
18 | 2q37.3 (238,138,565-238,616,893)x3, 0.48Mb. | Duplication | Likely benign |
19 | 12q24.23 (119,276,763-119,682,258)x3, 0.41Mb. | Duplication | VOUS |
20 | 20p12.3p12.2 (8,633,732-9,375,262)x3, 0.74Mb. | Duplication | VOUS |
21 | 2q37.1q37.3 (235,368,568-237,312,027)x4, 1.94Mb; 2q37.3 (238,781,791-242,782,258)x1, 4Mb. | Duplication&deletion | Pathogenic |
22 | 18q22.2q23(68,019,984-78,013,728)x1, 9.99Mb; 3q27.3q29(186,570,452-195,835,968)x3, 9.27Mb. | Duplication&deletion | Pathogenic |
23 | 20p13q13.33 (61,661-62,913,645)x2-3, 62.85Mb, 31%. | Mosaic duplication | Pathogenic |