Table 1.
Genotyping results
| Case | Father | Mother | Parent-of-origin |
|---|---|---|---|
| 1 | H1/H2 | H1/H2 | Maternal |
| 2 | H1/H1 | H1/H2 | Maternal |
| 3 | H1/H2 | H1/H1 | Paternal |
| 4 | H1/H2 | H1/H2 | Maternal |
| 5 | H1/H2 | H1/H1 | Paternal |
| 6 | H2/H2 | H1/H1 | Paternal |
| 7 | H1/H2 | H1/H2 | Paternal |
| 8 | H2/H2 | H1/H1 | Paternal |
| 9 | H1/H2 | H1/H2 | Paternal |
| 10 | H1/H2 | H1/H2 | Maternal |
| 11 | H2/H2 | H1/H1 | Paternal |
| 12 | H2/H2 | H1/H2 | – |
| 13 | H1/H1 | H1/H2 | Maternal |
| 14 | H1/H2 | H1/H1 | Paternal |
| 15 | H1/H2 | NA | Paternal |
| 16 | H1/H2 | H1/H1 | Paternal |
| 17 | H1/H2 | H1/H1 | Paternal |
| 18 | NA | H1/H2 | – |
| 19 | H1/H1 | H2/H2 | Maternal |
| 20 | H1/H2 | H2/H2 | Paternal |
| 21 | H1/H1 | H1/H2 | Maternal |
| 22 | H1/H1 | H2/H2 | Maternal |
The parent-of-origin was determined by genotyping for H1/H2 status as well as by other polymorphic markers in the region. For cases 6, 8, 11, and 16 the parent-of-origin was inferred by SNP array data and extrapolation from child and parental alleles. NA, DNA sample not available; –, marker analyses could not distinguish between the paternal or maternal origin of the deletion.