Table 1.
Microarray Results for Stillbirths with Aneuploidy, Variants of Unknown Significance, or Pathogenic Variants in Which Karyotyping Failed or Was Normal.
| Microarray Result | Case No. | Observed Change on Microarray* | Size |
|---|---|---|---|
| Failed karyotyping | |||
| Aneuploidy | |||
| Trisomy 18 | 1 | 18p11.32q23(1,543–76,116,030)×3 | Chromosome |
| Trisomy 18 | 2 | 18p11.32q23(1,542–76,116,029)×3 | Chromosome |
| Trisomy 21 | 3 | 21q11.q22.3(13,286,390–46,921,374)×3 | Chromosome |
| Trisomy 21 and XXY | 4 | 21p11.1q22.3(9,758,730–46,921,374)×3, Xp22.33q28(2,401,346–154,843,252)×2, 19q13.12(41,553,395–42,220,583)×1 |
Chromosome Chromosome 667 kb |
| Monosomy X | 5 | Xp22.33q28(108,464–154,849,094)×1 | Chromosome |
| Monosomy X | 6 | Xp22.33q28(2,401,346–154,843,252)×1 | Chromosome |
| Monosomy X | 7 | Xp22.33q28(108,464–154,849,094)×1 | Chromosome |
| Pathogenic variant | |||
| Deletion | 8 | 1q21.1(143,845,772–146,838,707)×1 | 4.0 Mb |
| Deletion | 9 | 22q11.21q11.23(17,256,416–22,140,054)×1 | 4.9 Mb |
| Variant of unknown significance | |||
| Duplication | 10 | 19p13.3(363,729–965,377)×3 | 602 kb |
| Duplication | 11 | 19p13.3(441,414–965,377)×3 | 524 kb |
| Duplication | 12 | 19p13.3(339,937–1,270,320)×3 | 931 kb |
| Duplication | 13 | 19p13.3(441,414–1,261,136)×3 | 820 kb |
| Duplication | 14 | 19p13.3(388,808 – 1,270,320)×3 | 882 kb |
| Duplication | 15 | 19q13.12(57,198,183–57,722,222)×3 | 524 kb |
| Duplication | 16 | 21q21.3(27,162,033–28,340,061)×3 | 1.2 Mb |
| Duplication | 17 | 21q22.13(36,685,848–37,185,921)×3 | 500 kb |
| Duplication | 18 | Xq27.1(138,676,821–139,311,901)×3 | 635 kb |
| Duplication | 19 | 5p15.2(10,908,334 – 11,459,739)×3 | 551 kb |
| Normal karyotyping | |||
| Pathogenic variant | |||
| Deletion | 20 | 22q11.21(17,256,416–19,795,836)×1 | 2.5 Mb |
| Deletion | 21 | Xp22.31(6,903,881–7,774,557)×0 | 869 kb |
| Deletion | 22 | 7q11.23(73,247,250–73,753,322)×1 | 506 kb |
| Unbalanced translocation: deletion and duplication | 23 | 4q32.3q35.2(165,903,367–91,254,120)×1 17p13.3(514–2,811,647)×3 |
25.3 Mb 2.8 Mb |
| Duplication | 24 | 22q11.21(17,128,427–18,647,705)×3 | 1.5 Mb |
| Duplication | 25 | 18p11.21(13,574,399–14,760,946)×3 | 1.2 Mb |
| Duplication | 26 | 16p13.11p12.3(15,224,214–18,286,344)×3 | 3.0 Mb |
| Duplication | 27 | 16p13.11p12.3(15,389,423–18,464,701)×3 | 3.1 Mb |
| Duplication | 28 | 17q21.31(31,890,369–33,552,890)×3 | 1.7 Mb |
| Variant of unknown significance | |||
| Deletion | 29 | Yq11.221(18,148,539–18,999,761)×0 | 850 kb |
| Deletion | 30 | 1p35.3(28,444,904–28,952,754)×1 | 508 kb |
| Deletion | 31 | 16p11.2(29,333,900 – 30,038,055)×1 | 704 kb |
| Duplication | 32 | 19p13.3(373,237–1,261,136)×3 | 887 kb |
| Duplication | 33 | 19p13.3(441,414–965,377)×3 | 524 kb |
| Duplication | 34 | 19p13.3(392,194–972,725)×3 | 580 kb |
| Duplication | 35 | 15q12q13.1(25,366,691–26,087,702)×3 | 721 kb |
| Duplication | 36 | 19p12(23,613,361–24,388,578)×3 | 775 kb |
| Duplication | 37 | 6p25.1p24.3(6,844,061–7,457,081)×3 | 613 kb |
| Duplication | 38 | 10q23.31(90,658,193–91,207,964)×3 | 549 kb |
| Duplication | 39 | 19q13.12(41,961,955–42,487,630)×3 | 526 kb |
| Duplication | 40 | 8q24.23(137,042,624–139,247,552)×3 | 2.2 Mb |
| Duplication | 41 | 3p21.31(45,806,446–46,455,963)×3 | 649 kb |
| Duplication | 42 | 11p13(33,005,102–33,592,112)×3 | 587 kb |
*
For each observed change on microarray analysis, the times sign specifies the number of copies of the genomic region indicated in the parentheses.