Table 3.
List of chromosomal aberrations.
| Pt | CHR | Change in DNA | Number of protein coding genes affected | Detection modality | Class | Diseased associated |
|---|---|---|---|---|---|---|
| 15 | Chr11 | Germline deletion from BP 126.908.896 – 134.938.470 | 32 | SNP-array | P | Jacobsen syndrome |
| 16 | Chr11 | Deletion from BP 123.307.968 – 134.938.470 | 98 | SNP-array | P | Jacobsen syndrome |
| 17 | Chr12 | Germline deletion from BP 56.354.128 – 56.586.298 bp | 13 | SNP-array | P | Diamond-Blackfan Anemia |
| 18 | Chr15q3.3 | Deletion from BP 31.112.920 – 32.444.044 | 6 | SNP-array | LP | 15q13.3 microdeletion syndrome |
CHR, chromosome; P, pathogenic; LP, likely pathogenic; BP, base pair.