Table 1.
Genome data for duplication 17p13.3 patients
| Lisdb# | Pt# | Genome coordinates [hg18] | Size | Sentinel genes | Inheritance | Microarray |
|---|---|---|---|---|---|---|
| Group I | ||||||
| LR08-353 | 1 | (chr17:447,066-1,563,813)×3 | 1.12 Mb | YWHAE | paternal na* | SGL OS 135K |
| LR08-357 | 2 | (chr17:840,149-1,578,598)×3 | 738.4 kb | YWHAE | de novo | SGL OS 135K |
| LR10-181a1 | 3a1 | (chr17:894,983-1,443,730)×3 | 548.7 kb | YWHAE | maternal | OGT 105K |
| LR10-181a2 | 3a2 | same as 3a1 | “ | YWHAE | maternal | OGT 105K |
| LR10-057a1 | 4a1 | (chr17:991,473-1,513,936)×3 | 522.5 kb | YWHAE | germline | Genzyme Clarisure |
| LR10-057a2 | 4a2 | same as 4a1 | “ | YWHAE | mosaic | SGL OS 135K |
| LR10-179a1 | 5a1 | (chr17:1,007,000-1,619,962)×3 | 613.0 kb | YWHAE | paternal | SGL OS 135K |
| LR10-179a2 | 5a2 | same as 5a1 | “ | YWHAE | na | SGL OS 135K |
| LR09-270 | 6 | (chr17:1,039,126-1,491,785)×3 | 452.7 kb | YWHAE | de novo | SGL OS 105K |
| LR09-213a1 | 7a1 | (chr17:1,131,224-1,448,997)×3 | 317.8 kb | YWHAE | maternal | SGL OS 105K |
| LR09-213a2 | 7a2 | same as 7a1 | “ | YWHAE | na | SGL OS 105K |
| LR08-354a1 | 8a1 | (chr17:1,140,796-1,410,997)×3 | 270.2 kb | YWHAE | mat/pat | SGL OS 135K |
| LR08-354a2 | 8a2 | same as 8a1 | “ | YWHAE | mat/pat | SGL BAC |
| LR08-354a3 | 8a3 | na | na | na | na | |
| Group 2 | ||||||
| LR11-101 | 9 | (chr17:1-3,012,800)×3 and (chr17:1,448,942-1,503,503)×4 | 3.0 Mb | YWHAE-HIC1-LIS1 | de novo | Agilent 244K |
| LR11-102 | 10 | (chr17:1-4,052,847)×3 | 4 Mb | YWHAE-HIC1-LIS1 | de novo | Agilent 244K |
| LR10-068a1 | 11a1 | (chr17:52,934-2,501,198)×3 | 2.45 Mb | YWHAE-HIC1-LIS1 | maternal | SGL OS 135K |
| LR10-068a2 | 11a2 | dup confirmed by FISH | “ | YWHAE-HIC1-LIS1 | mosaic 72% | FISH |
| LR10-182 | 12 | (chr17:148,091-3,505,143)×3 | 3.4 Mb | YWHAE-HIC1-LIS1 | de novo | UNC SGLSelect 105K |
| LR08-265a1 | 13a1 | (chr17:219,072-2,996,360)×3 | 2.78 Mb | YWHAE-HIC1-LIS1 | paternal | Agilent 660K-quad |
| LR08-265a2 | 13a2 | same as13a1 | “ | YWHAE-HIC1-LIS1 | na | Agilent 660K-quad |
| LR08-260 | 14 | (chr17:271,999-2,277,555)×3 | 2.01 Mb | YWHAE-HIC1 | de novo | Genome Dx 105K |
| LR08-358 | 15 | (chr17:800,495-2,767,054)×3 | 2.16 Mb | YWHAE-HIC1-LIS1 | de novo | Agilent 105 K |
| LR10-180 | 16 | (chr17:1,010,661-2,032,333)×3 | 1.02 Mb | YWHAE-HIC1 | de novo | OGT 105K |
| LR09-217a1 | 17a1 | dup 17p13.3; dup 16p13.11 (chr17:1,235,314-2,183,796)×3 (chr16:14,957,300-16,195,404)×3 |
948.5 kb; 1.24 Mb | YWHAE-HIC1 | 17p maternal 16p de novo |
SGL OS 135K |
| LR09-217a2 | 17a2 | 17p same as 17a1;no 16p dup | “ | YWHAE-HIC1 | na | SGL OS 135K |
| Group 3 | ||||||
| LR10-114 | 18 | (chr17:1,963,450-2,816,939)×3 | 853.5 kb | LIS1 | de novo | Agilent 105K |
| LR09-065 | 19 | dup 17p13.3, dup 17p13.2 (chr17:2,165,727-4,237,227)×3 (chr17:4,014,003-4,468,074)×3 |
2.27 Mb, 454.0 kb | LIS1 | de novo | Genome Dx 105K |
| LR10-150a1 | 20a1 | (chr17:2,249,109-2,586,017)×3 | 336.9 kb | LIS1 | paternal | SGL OS 105K |
| LR10-150a2 | 20a2 | same as 20a1 | 336.9 kb | LIS1 | paternal | SGL OS 105K |
| LR10-150a3 | 20a3 | same as 20a1 | 336.9 kb | LIS1 | na | SGL OS 105K |
| LR10-056a1 | 21a1 | dup 17p13.3, dup 17p13.2 (chr17:2,260,944-2,560,922)×3 (chr17:4,028,199-4,436,327)×3 |
300.0 kb 408.1 kb |
LIS1 | maternal | SGL OS 135K |
| LR10-056a2 | 21a2 | same as 21a1 | “ | LIS1 | maternal | SGL OS 135K |
| LR10-056a3 | 21a3 | same as 21a1 | “ | LIS1 | na | SGL OS 135K |
Abbreviations: mat/pat, inherited but parent-of-origin unknown; mosaic, mosaicism implying de novo inheritance; na, not available; Pt#, patient #; *, maternal array normal. Chromosome microarrays: Agilent 105K, Agilent Human Genome CGH 105K; Agilent 244K, Agilent Human Genome CGH 244K (Agilent Technologies, Santa Clara, CA); Illumina 660K, Infinium HD Human660W-Quad BeadChip SNP array (Illumina, San Diego CA); SGL OS 105K and SGL OS135K, Signature Genomics Laboratories oligonucleotide arrays; OGT; Oxford Gene Technology; UNC University North Carolina.