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. 2010 May 12;18(10):1114–1120. doi: 10.1038/ejhg.2010.66

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.