Patient | Sex | Current age | Age at onset | Genetic abnormality |
---|---|---|---|---|
The results marked with * are compatible with maternal heterodisomy, but this could not be proven because paternal blood was not available. | ||||
1 | M | 17 | 14 | IC defect |
2 | M | 17 | 15 | Heterodisomy |
3 | F | 24 | 19 | Heterodisomy* |
4 | M | 30 | 15 | Heterodisomy* |
5 | F | 33 | 13 | Heterodisomy |
6 | F | 41 | 19 | Heterodisomy* |