Table 1 Selected predicted best scored CNVs confirmed later as pathogenic changes
From: Multiple samples aCGH analysis for rare CNVs detection
Case | Gain/loss | Cytoband | Size (Mb) | Oligo nr. | Score | ISCA | GAD | Diagnosis |
|---|---|---|---|---|---|---|---|---|
1 | Del | 1q43q44 | 3.3 | 166 | 100% | 24 | — | Mental retardation |
2 | Del | 3q13.2q13.31 | 4.5 | 154 | 99% | 4 | 2 | Autism |
3 | Del | Xp22.12 | 1.6 | 100 | 95% | 53 | 1 | Mental retardation |
4 | Del | 17q21.31 | 0.3 | 84 | 96% | 23 | 3 | Mental retardation |
5 | Del | 5q14.3q15 | 5.4 | 596 | 95% | 5 | — | Mental retardation |
6 | Del | Xq22.1q22.3 | 5.2 | 167 | 91% | 51 | 2 | Mental retardation |
7 | Del | 2q37.2q37.3 | 6.3 | 736 | 88% | 19 | 2 | Mental retardation |
8 | Del | 15q13.3q14 | 8 | 873 | 87% | 2 | 2 | Mental retardation |