Table 1.
Selected predicted best scored CNVs confirmed later as pathogenic changes
| 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 |