Table 2.
Main characteristics of non-recurrent LCSHs detected in this study
Number of patients with non-recurrent LCSH (% of a total of 2,110 patients) | 120 (5.7%) |
Number of patients with 1 (2) LCSHs | 111 (9) |
Non-recurrent LCSH count | 129 |
Size range of single LCSHs | 5 – 28 Mb |
Size range of the sum of 2 LCSHs in 1 patient | 11.1 – 25.1 Mb |
Average size of a single LCSH | 7.7 Mb |
Number of genes causing a recessive disorder in an LCSH (median) | 0 – 15(3) |
Number of cases with a candidate recessive gene in an LCSH | 2a |
In both cases, the mutation was confirmed.