Table 2. Comparison of findings in patients 2 and 3 in this study with published case reports.
Patient/published case report | Findings | Start coordinate (Mb) | Stop coordinate (Mb) | Size (Mb) | Formation of dicentric chromosome | Telomere capture |
---|---|---|---|---|---|---|
Patient 2 in this study | 8pterp23.1 × 1 8p23.1p21.2 × 3 8q24.3qter | 0 12.60 145.08 | 6.93 24.82 146.26 | 6,93 12,22 1,18 | NAHR (mechanism 2) with involvement of REPD and REPP | Yes? |
Patient 3 in this study | 8pterp23.1 × 1 8p23.1p21.2 × 3 | 0 7.36 | 6.91 25.71 | 6,91 18,35 | U-type exchange (mechanism 3) with involvement of REPD | No |
Case A in Buysse et al13 | 8pterp23.1 × 1 8p23.1p21.2 × 3 8q24.13qter | 0 12.63 125.34 | 6.90 16.97 146.25 | 6,90 3.40 20.90 | NAHR (mechanism 2) with involvement of REPD and REPP | Yes |
Case B in Buysse et al13 | 8pterp23.1 × 1 8p23.1p21.2 × 3 8q24.13qter | 0 4.48 117.93 | 3.90 24.31 146.25 | 3,90 19.83 28.30 | U-type exchange (mechanism 3) without involvement of REPD or REPP | Yes |
Case C in Rowe et al24 | 8pterp23.1 × 1 8p23.1p21.2 × 3 | 0 0.62 | 0.61 37.79 | 0.61 18,35 | U-type exchange (mechanism 3) without involvement of REPD or REPP | No |
Cases D–H in Shimokawa et al10 | 8pterp23.1 × 1 8p23.1p21.2 × 3 | 0 12.62 | 5.8–8.3 ∼39.72 | 5.8–8.3 26–31 | NAHR (mechanism 2) with involvement of REPD and REPP | No |
Abbreviation: NAHR, nonallelic homologous misalignment and unequal recombination.
For explanations of ‘mechanism 2' and ‘mechanism 3', see text.