Table 1.
Selected Observed Recurrence Rates from the Literature
| Disease (MIM) | Inheritance | Observations | Recurrence Rate | 95% Confidence Interval | Reference |
|---|---|---|---|---|---|
| Achondroplasia (100800) | autosomal dominant | 443 | 0.2% | 0.005%–1.3% | Mettler and Fraser14 |
| Osteogenesis imperfecta type II (166210) | autosomal dominant | 76 | 1.3% | 0.03%–7.3% | Pyott et al.7 |
| Hemophilia A (306700) | X-linked recessive | 61 | 3.3% | 0.4%–11.8% | Leuer et al.9 |
| Duchenne muscular dystrophy (310200) and Becker muscular dystrophy (300376) | X-linked recessive | 318 | 8.6% | 4.8%–12.2% | Helderman-van den Enden et al.8 |
Note that these data might reflect heterogeneous mutational mechanisms.