Molecular details for the new genomic rearrangements in the 17p13.3 region
| Case | Genomic abnormality | Genomic region (bp)* | Size (Mb) | Detection method | Confirmation | Inheritance | Parental origin |
| 1 | Interstitial deletion | Chr17: 1135022–2202835 | 1.07 | 244K array | FISH | de novo (FISH) | Paternal |
| 2 | Terminal deletion | Chr17: 514–2065664 | 2.07 | SNP6.0 array | FISH | de novo (FISH) | Paternal |
| 3 | Interstitial deletion | Chr17: 1067074–1394633 | 0.33 | 44K array | FISH | de novo (FISH) | No STS markers in segment |
| 4 | Interstitial deletion | Chr17: 842389–2257857 | 1.42 | 44K array | FISH | de novo (FISH) | NT |
| 5 | Interstitial deletion | Chr17: 1136270–2168155 | 1.03 | HumanCytoSNP-12 | Custom aCGH | de novo (MLPA) | Paternal |
| 6 | Interstitial deletion | Chr17: 1254527–2164139 | 0.91 | 250K Nsp | Custom aCGH | Maternal (250K Nsp) | NA |
| 7 | Terminal deletion | Chr17: 18901–1820903 | 1.80 | 250K Nsp | MLPA | Parental samples unavailable | NT. Parental samples unavailable |
| 8 | Terminal deletion with Concurrent duplication | Chr17: 29169–2123816 Chr17: 2124215–3321560 | 2.09 1.20 | MLPA† 244K array | FISH MLPA | de novo (FISH) de novo (MLPA) | Maternal Maternal |
| 9 | Interstitial duplication | Chr17: 294421–1371895 | 1.08 | 244K array | MLPA | de novo (MLPA) | Maternal |
| 10 | Interstitial duplication | Chr17: 738991–2813518 | 2.07 | BAC subtelomeric array | FISH | de novo (FISH) | Paternal |
| 11 | Interstitial duplication | Chr17: 936249–1573187 | 0.64 | HumanCytoSNP-12 | Custom aCGH | Not Maternal (MLPA) | Not Maternal. Paternal sample unavailable. |
| 12 | Interstitial duplication | Chr17: 1288474–1558459 | 0.27 | 370K array | Custom aCGH | Maternal (370K array) | NA |
| 13 | Interstitial duplication | Chr17: 1123160–1182563 (min) Chr17: 1105258–1193712 (max) | 0.059 (min) 0.088 (max) | 180K array | 180K array | Maternal (180K array) | NA |
↵* Breakpoints and copy number variation size determined on the basis of high-density custom oligonucleotide aCGH (cases 1, 3–6 and 8–12), multiplex ligation-dependent probe amplification (MLPA) analysis (case 2) and 180K array analysis (case 13). In case 7, the genomic coordinates are taken from the 250K Nsp array.
↵† Microdeletion first detected using the DiGeorge syndrome MLPA kit (MRC-Holland, http://www.mrc-holland.com/). aCGH, array comparative genomic hybridisation; FISH, fluorescent in situ hybridisation; NA, not applicable; NT, not tested.