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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

From: Terminal 18q deletions are stabilized by neotelomeres

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
  1. (N) not performed, unavailable material; (+) signal telomere present by FISH.