The 17 samples examined
| Case no. | Mutation in son | Mean ratio within rearrangement (n) | Mean ratio outside rearrangement (n) | 99% CI of the difference | p Value | Carrier? |
|---|---|---|---|---|---|---|
| Listed are the ratios derived from probes within and outside the rearrangements. | ||||||
| The mean ratio for each sample is given (duplicated in bold, deleted in italics), with the figure in brackets being the number of probes tested. | ||||||
| The p values were determined with Student’s t test, and the associated 99% confidence intervals (CI) of the differences are also shown. | ||||||
| 1 | dup 58-63 | 1.44 (3) | 1.01 (11) | −0.58 to −0.28 | <0.001 | Yes |
| 2 | del 10-46 | 0.47 (10) | 0.97 (13) | 0.30 to 0.70 | <0.001 | Yes |
| 3 | dup 44-57 | 1.51 (13) | 1.07 (24) | −0.58 to −0.31 | <0.001 | Yes |
| 4 | dup 50-55 | 1.39 (6) | 0.98 (19) | −0.51 to −0.30 | <0.001 | Yes |
| 5 | dup 52-55 | 1.48 (6) | 1.03 (13) | −0.61 to −0.29 | <0.001 | Yes |
| 6 | dup 51-55 | 1.60 (7) | 0.99 (18) | −0.94 to −0.26 | <0.001 | Yes |
| 7 | del 45 | 0.39 (3) | 1.02 (15) | 0.46 to 0.80 | <0.001 | Yes |
| 8 | del 49-54 | 0.51 (10) | 1.00 (19) | 0.39 to 0.59 | <0.001 | Yes |
| 9 | del 48-50 | 0.53 (5) | 1.01 (12) | 0.41 to 0.55 | <0.001 | Yes |
| 10 | dup 2-9 | 1.01 (4) | 0.98 (11) | −0.16 to 0.11 | 0.63 | No |
| 11 | dup 3-7 | 1.43 (6) | 0.94 (20) | −0.65 to −0.32 | <0.001 | Yes |
| 12 | dup 12-13 | 1.47 (4) | 1.03 (17) | −0.64 to −0.23 | <0.001 | Yes |
| 13 | dup 2-6 | 1.28 (4) | 1.01 (17) | −0.42 to −0.11 | <0.001 | Yes |
| 14 | dup 2-7 | 1.07 (4) | 0.94 (8) | −0.35 to 0.12 | 0.13 | No |
| 15 | del 52 | 0.55 (3) | 0.96 (12) | 0.10 to 0.63 | <0.001 | Yes |
| 16 | del 8-43 | 1.00 (4) | 0.96 (6) | −0.24 to 0.15 | 0.47 | No |
| 17 | dup 12 | 1.10 (3) | 1.00 (12) | −0.28 to 0.07 | 0.10 | No |