Table 1.
Summary of Results for Subjects with Triplication Followed by AOH
| Subject | Chromosome Sub-band |
DUP |
TRP |
DUP |
AOH Region |
|
|---|---|---|---|---|---|---|
|
a |
b-c |
d |
e |
Uniparental |
||
| Mb | Mb | Mb | Mb | disomy | ||
| BAB3922 | 6q24.1 | 0.258 | 3.8 | 0.004 | 24.7 | maternal |
| BAB3923 | 10q26.13 | 0.022 | 3.8a | unknown | 5.9 | paternal |
| BAB3924 | 14q32.12 | 0.031 | 5.9 | 0.002 | 8.6 | paternal |
| BAB4539 | 9q12–q21.11 | LCR | 21.7 + 0.055a | LCR | 50.3 | paternal |
| DECIPHER_257814 | 1p36.12 | 0.001 | 8.7 | 0.001 | 11.8 | maternal |
Size of CNV segments was defined by inspection of high-resolution aCGH data coupled to breakpoint junction sequencing unless otherwise stated. Size of AOH region was inferred from SNP array data (Affymetrix platform: BAB3922, BAB3923, BAB3924, BAB4539; Illumina platform: DECIPHER_257814). Segments a, b, c, d, and e are defined in Figure 1. Abbreviations are as follows: LCR, non-paralogous low-copy repeat; Mb, Megabase.
a
Estimated size based on Affymetrix platform data.