Table 3. Coordinates of imbalances at interstitial 19p13.3 region according to the HGVS and ISCN nomenclatures.
| Patient | Genomic imbalance; inheritance | Size (Mb) | Type | CGH-array platforms and methods used |
|---|---|---|---|---|
| 01 | chr19.hg19:g.( 3,324,025_ 3,324,026)_( 4,870,882_4,870,883)del ISCN:19p13.3 (3,324,026-4,870,882 )x1 dn | 1.546 | Deletion | KaryoArray_v3.0 and custom 19p13.3 and Sanger sequencing |
| 02 | chr19.hg19:g.( 3,874,599_3,874,600)_( 4,183,343_4,183,344)del ISCN: arr[hg19] 19p13.3(3,874,600- 4,183,343)x1 dn | 0.309 | Deletion | KaryoArray_v3.0 and custom 19p13.3 and Sanger sequencing |
| 03 | chr19.hg19:g.(3,227,720_3,234,036)_( 4,823,723_4,830,039)del ISCN: arr[hg19] 19p13.3 (3234036-4823723)x1 dn | 1.491 | Deletion | KaryoArray_v3.0 and custom 19p13.3 |
| 04 | chr19.hg19:g.( 3,932,784_3,932,785)_(4,523,183_4,523,184)del ISCN: arr[hg19] 19p13.3 (3,932,785-4,523,183)x1 dn | 0.590 | Deletion | KaryoArray_v3.0 and custom 19p13.3 and Sanger sequencing |
| 05 | chr19.hg19:g.(3,279,941_3,279,942)_(4,168,106_4,168,107)del ISCN: arr[hg19] 19p13.3 (3,279,942-4,168,106)x1 dn | 0.888 | Deletion | SignatureChipOS v2.0 12-plex, KaryoArray_v3.0, custom 19p13.3 and Sanger sequencing |
| 06 | chr19.hg19:g.( 3,789,486_3,789,487)_(3,988,746_3,988,747)del ISCN: arr[hg19] 19p13.3 (3,789,487-3,988,746)x1 dn/ chr19.hg19:g.(46,121,111_4,6121,112)_(46,387,319-46,387,320)del ISCN: arr[hg19] 19q13.32 (46,121,112-46,387,319)x1 dn | 0.199/0.266 | Deletion/deletion | KaryoArray_v3.0 and custom 19p13.3 and Sanger sequencing |
| 07 | chr19.hg19:g.(3,295,067_3,295,068)_(4,996,928_4,996,929)del ISCN: arr[hg19] 19p13.3 (3,295,068-4,996,928)x1 dn | 1.700 | Deletion | SignatureChipWG v1.0.1; KaryoArray_v3.0 and custom 19p13.3 and Sanger sequencing |
| 08 | chr19.hg19:g.(2,362,767_2,487,767)_(4,882,351_5,007,351)dup ISCN: arr[hg19] 19p13.3 (2,487,767-4,882,351)x3 dn | 2.395 | Duplication | Qchip_v3.0 |
| 09 | chr19.hg19:g.(3,184,457_3,190,773)_(3,448,532_3,454,848)del ISCN: arr[hg19] 19p13.3 (3,190,773-3,448,532)x1 chr19.hg19:g.(3,579,614_3,585,930)_(4,621,011_ 4,627,327)del ISCN: arr[hg19] 19p13.3 (3,585,930-4,621,011)x1 dn | 0.257/1.035 | Deletion/deletion | SignatureChipWG v1.0.1, and custom 19p13.3 |
| 10 | chr19.hg19:g.(2,294,320 _2,329,320)_(3,808,325_ 3,843,325)dup ISCN: arr[hg19] 19p13.3 (2,329,320-3,808,325)x3 dn | 1.479 | duplication | SignatureChipOS v2.0 12-plex |
| 11 | chr19.hg19:g.(3,944,568 _3,979,568)_(4,131,259_ 4,166,259)del ISCN: arr[hg19] 19p13.3 (3,979,568-4,131,259)x1 | 0.151 | Deletion | SignatureChipOS v2.0 12-plex |
| 12 | chr19.hg19:g.(3,451,210_3,45,1211)_(4,600,362_4,600,363)del ISCN: arr[hg19] 19p13.3 (3,451,211-4,600,362)x1 dn | 1.149 | Deletion | SignatureChipOS Version 4.0 and custom 19p13.3 and Sanger sequencing |
| 13 | chr19.hg19:g.(3,397,174_3,403,490)_(3,405,207_3,411,524)dup ISCN: arr[hg19] 19p13.3 (3,403,490-3,405,207)x3 chr19.hg19:g.(3,406,937_3,413,253)_(4,195,610_4,201,926)del ISCN: arr[hg19] 19p13.3 (3,413,253-4,195,610)x1 | 0.00177/0.781 | Duplication/deletion | SignatureChipOS Version 4.0 and custom 19p13.3 |
Abbreviations: dn, de novo; HGVS, Human Genome Variation Society; ISCN, International System for Human Cytogenetic Nomenclature. Data are from UCSC Genome Browser (February 2009 assembly, hg19. NCBI buid 37).