Table 1 Mode of inheritance based on family history, on genetic results, and mutation detection rate for each group.
Inheritance based on family history | n | Inheritance based on mutation | n | Mutation detection rate % |
|---|---|---|---|---|
autosomal recessive | 35 | autosomal recessive | 31 | 89% |
autosomal dominant | 37 | autosomal dominant | 31 | 84% |
X-linked | 0 | n.a. | 0 | n.a. |
inconclusive | 3 | autosomal recessive (pseudo-dominant) | 3 | 100% |
sporadic | 176 | autosomal recessive | 85 | 68% |
autosomal dominant | 32 | |||
X-linked | 1 | |||
mitochondrial | 2 |
