All cases (n = 146 samples) | Sporadic (n = 106 samples) | Significant history (n = 40 samples) | |
---|---|---|---|
Autosomal dominant (AD) | |||
De novo/germline | 19 | 19 | 0 |
De novo/mosaic in fetus | 1 | 1 | 0 |
Inherited/mosaic in mother | 2 | 2 | 0 |
Parents unavailable | 1 | 1 | 0 |
Total AD | 23 | 23 | 0 |
Autosomal recessive (AR) | |||
Compound heterozygous | 13 | 6 | 7 |
Homozygous | 6 | 3 | 3 |
TOTAL AR | 19 | 9 | 10 |
X-linked (XL) | |||
De novo | 2 | 2 | 0 |
Inherited/mother | 2 | 1 | 1 |
Total XL | 4 | 3 | 1 |
Total molecular diagnoses | 46 | 35 | 11 |