Table 1 Breakpoint definition data using G-banding, SNP-array, custom array CGH and FISH results with PNA probe in patients with 18q terminal deletion
Patient | G-banding karyotype and SNP-array (Affymetrix) | Custom array CGH (Agilent) | Differences between the coordinates of breakpoints | FISH |
|---|---|---|---|---|
P1 | 46,XY,del(18)(q21.33)dn.arr 18q21.33q23(60,814,531-78,015,057) × 1 | arr 18q21.33q23(60,814,632-78,015,147) × 1 | 101 bp | + |
P2 | 46,XX,del(18)(q21.33)dn.arr 18q21.33q23(59,488,812-78,015,057) × 1 | arr 18q21.33q23(59,488,412-78,015,147) × 1 | 400 bp | + |
P3 | 46,XX,del(18)(q21.32)dn.arr 18q21.32q23(57,712,098-78,015,057) × 1 | arr 18q21.32q23(57,714,859-78,015,147) × 1 | 2761 bp | + |
P4 | 46,XX,del(18)(q21.32)dn.arr 18q21.32q23(57,818,459-78,015,057) × 1 | arr 18q21.32q23(57,814,054-78,015,147) × 1 | 4405 bp | N |
P5 | 46,XY,del(18)(q21.31)dn.arr 18q21.31q23(56,044,470-78,015,057) × 1 | arr 18q21.31q23(56,046,905-78,015,147) × 1 | 2435 bp | + |
P6 | 46,XX,del(18)(q22.1)dn.arr 18q22.1q23(62,772,720-78,015,057) × 1 | arr 18q22.1q23(62,769,761-78,015,147) × 1 | 2959 bp | + |
P7 | 46,XX,del(18)(q21.33)dn | N | + | |
P8 | 46,XX,del(18)(q21.32)dn.arr 18q21.32q23(58,641,269-78,015,057) × 1 | N | + | |
P9 | 46,XX,del(18)(q21.32)dn.arr 18q21.32q23(58,938,942-78,015,057) × 1 | arr 18q21.32q23(58,939,925-78,015,147) × 1 | 983 bp | N |