Table 1 Clinical and chromosomal characteristics of the 29 cases with pathogenic/likely pathogenic CNVs detected
Case | MAÂ (years) | GAÂ (weeks) | Ultrasound Findings | CMA Results | Type of CNV | Size | Outcome |
|---|---|---|---|---|---|---|---|
1 | 27.1 | 25.3 | Isolated CP | arr18q22.3q23(70,661,548–78,013,728) × 1 arr20p13p11.23(61,662–19,077,891) × 3 | Deletion Duplication | 7.35 Mb 19.02 Mb | TOP |
2 | 26.5 | 26.4 | Isolated CLP | arr4p16.3p15.33(68,345–12,696,000) × 1 | Deletion | 12.63 Mb | TOP |
3 | 31.3 | 30.6 | Isolated CLP | arr10q26.3(131,063,320–135,426,386) × 3 | Duplication | 4.36 Mb | TOP |
4 | 25.6 | 26.0 | Isolated CLP | arr4p16.3p15.33(68,345–11,779,280) × 1 | Deletion | 11.71 Mb | TOP |
5 | 31.4 | 23.4 | Isolated CLP | barr2p16.3(51,003,279–51,294,688) × 1 | Deletion | 291 Kb | Live birth |
6a | 35.3 | 27.2 | Isolated CLP | arr16p11.2(29,580,021–30,190,029) × 1 | Deletion | 610 Kb | TOP |
7 | 32.1 | 23.0 | Isolated CLP | arr16p11.2(29,580,020–30,177,240) × 3 | Duplication | 597 Kb | TOP |
8 | 41.3 | 14.0 | Isolated CLP | arr(18) × 3 | Duplication | 77.88 Mb | TOP |
9 | 26.6 | 19.6 | CLP; forebrain malformation; pleural effusion; PRUV | barr6p25.3p24.3(156,975–9,116,357) × 3 arr21q22.13q22.3(38,242,327–48,093,361) × 1 | Duplication Deletion | 8.96 Mb 9.85 Mb | TOP |
10 | 27.0 | 25.6 | CLP; micrognathia, CM; AVSD; biventricular enlargement | arr21q22.11(32,920,742–35,430,729) × 1 | Deletion | 2.51 Mb | TOP |
11 | 39.5 | 12.0 | CLP; NT 3.42 mm | arr12p13.33q12(173,786–34,835,837) × 2 ~ 3 mos | Duplication | 38.05 Mb | TOP |
12 | 42.6 | 12.1 | CLP; NT 3.4 mm | arr(X) × 2 | Duplication | 155.1 Mb | TOP |
13 | 32.3 | 14.3 | CLP; absence of nasal bone; NT 4.25mmn | arr(18) × 3 | Duplication | 77.88 Mb | TOP |
14 | 40.4 | 12.4 | CLP; NT 4.32mmn | arr(13) × 3 | Duplication | 95.67 Mb | TOP |
15 | 26.2 | 12.9 | CLP; CH | arr(13) × 3 | Duplication | 95.67 Mb | TOP |
16 | 34.5 | 28.6 | CLP; renal agenesis | arr7q21.11(83,185,592–85,012,428) × 3 | Duplication | 1.83 Mb | TOP |
17 | 25.7 | 26.0 | CP; micrognathia | arr15q13.2q13.3(30,896,329–32,451,856) × 1 | Deletion | 1.56 Mb | TOP |
18 | 34.6 | 24.0 | CP; micrognathia | arr4q34.1q35.2(173,730,512–189,068,526) × 1 | Deletion | 15.3 Mb | TOP |
19 | 32.7 | 25.4 | CLP; bifid nose | barr11p11.12q11(51,126,723–54,720,810) × 3 | Duplication | 3.59 Mb | TOP |
20 | 27.0 | 25.4 | CLP | arr7q32.2q36.3(130,394,280–159,119,707) × 1 arr16p11.2q11.2(31,998,168–46,463,769) × 3 | Deletion Duplication | 28.73 Mb 14.47 Mb | TOP |
21 | 29.7 | 19.6 | CLP; single atrium; CTGA | arr(13) × 3 | Duplication | 95.67 Mb | TOP |
22 | 32.3 | 14.3 | CLP; absence of nasal bone; NT 4.25 mm | arr(18) × 3 | Duplication | 77.88 Mb | TOP |
23a | 38.3 | 22.2 | CLP; hypoplastic nasal bone; long bone (− 1.64 SD) | arr(21) × 3 | Duplication | 33.09 Mb | TOP |
24 | 28.4 | 25.6 | CLP; forebrain malformation; cardiac malformations | arr(13) × 3 | Duplication | 95.67 Mb | TOP |
25a | 28.8 | 24.6 | CLP; forebrain malformation; CM; pyelic separation | arr(13) × 3 | Duplication | 95.67 Mb | TOP |
26 | 25.6 | 26.4 | CLP; SUA; Dandy-Walker; DORV | arr(13) × 3 | Duplication | 95.67 Mb | TOP |
27 | 23.5 | 24.6 | CLP; hydrocephalus | arr(13) × 3 | Duplication | 95.67 Mb | TOP |
28 | 28.3 | 23.3 | CLP; SUA | arr(13) × 3 | Duplication | 95.67 Mb | TOP |
29 | 43.2 | 12.2 | CLP; micrognathia; cardiac malformations; CH | arr(13) × 3 | Duplication | 95.67 Mb | TOP |