Table 5 Characteristics of 10 CGIOs with clinically significant CNVs or VOUS, as detected by copy number variation sequencing
Case | gestational weeks | Gastrointestinal anomaly | Associated Anomalies | CNVs | CNV type | CNV size (Mb) | OMIM genes | Associated Syndrome | Categorization | Inheritance | Outcome |
|---|---|---|---|---|---|---|---|---|---|---|---|
1 | 23 | duodenal stenosis/atresia | None | arr13q21.33q34(69,340,000–79,100,000) × 1 | Deletion | 9.76 | EDNRB (131,244) | Waardenburg syndrome, type 4A (277,580) | Pathogenic | De novo | TOP |
2 | 25 | duodenal stenosis/atresia | Single umbilical artery | arr13q22.31q33.3(70,690,000–79,680,000) × 1 | Deletion | 8.99 | EDNRB (131,244) | Waardenburg syndrome, type 4A (277,580) | Pathogenic | De novo | TOP |
3 | 37 | Anorectal malformation | No gallbladder | arr22q11.21(19,020,000–21,480,000) × 3 | Gain | 2.46 | — | 22q11duplication syndrome (608,363) | Pathogenic | De novo | TOP |
4 | 30 | duodenal stenosis/atresia | Shortened limbs | arr22q11.23(23,700,000–25,120,000) × 3 | Gain | 1.42 | — | 22q11duplication syndrome (608,363) | Likely Pathogenic | Paternal | TOP |
5 | 32 | duodenal stenosis/atresia | Persistent left superior vena cava | arr10q26.13q26. 3(125,600,000–135,440,000) × 1; | Deletion | 9.84 | EBF3 (607,407) | Hypotonia, ataxia, and delayed development syndrome (617,330) | Pathogenic | De novo | full-term delivery |
arr4q24(106,920,000–107,480,000) × 1 | Deletion | 0.56 | TBCK (616,899) AIMP1 (603,605) | Hypotonia, infantile, with psychomotor retardation and characteristic facies-3 (616,900) | Pathogenic | Maternal |  | ||||
Leukodystrophy, hypomyelinating-3 (260,600) | Â | Â | Â | ||||||||
6 | 32 | duodenal stenosis/atresia | None | arr4q11q13.1(52,680,000–60,420,000) × 1 | Gain | 7.74 | — | — | Likely Pathogenic | De novo | intrauterine fetal death at 31 weeks |
7 | 24 | duodenal stenosis/atresia | None | arr2p24.3p24.2(13,900,000–18,720,000) × 1 | Deletion | 4.82 | MYCN(164,840) | Feingold syndrome 1 (164,280) | Pathogenic | De novo | TOP |
NBAS (608,025) | Short stature, optic nerve atrophy, and Pelger-Huet anomaly (614,800) infantile liver failure syndrome-2 (616,483) | Â | Â | Â | |||||||
8 | 23 | Anorectal malformation | Renal cyst | arr20p12.2(10,360,000–11,060,000) × 1 | Deletion | 0.70 | JAG1 (601,920) | Alagille syndrome (118,450) | Likely Pathogenic | De novo | TOP |
9 | 26 | duodenal stenosis/atresia | Absent nasal bone | arr5p15.33(820,000–1,040,000) × 3 | Gain | 0.22 | TRIP13 (604,507) | MVA3 (617,598) | VOUS | Paternal | full-term delivery |
10 | 23 | Anorectal malformation | Lymphangioma of the neck, single umbilical artery | arr14q24.1(68,200,000–68,480,000) × 1 | Deletion | 0.28 | ZFYVE26(612,012) | Spastic paraplegia-15 (270,700) | VOUS | Maternal | full-term delivery |