From: Whole-exome sequencing in deceased fetuses with ultrasound anomalies: a retrospective analysis
Mode of inheritance | Number of diagnoses | Percent of diagnoses | Number of novel variants |
---|---|---|---|
Autosomal dominant | 13 | 46.45% | 4 |
De novo | 11 | Â | 2 |
Inherited maternal | 1 | Â | Â |
Inherited,paternal | 1 | Â | 2 |
Autosomal recessive | 13 | 46.45% | 17 |
Homozygous | 1 | Â | Â |
Compound heterozygous | 12 | Â | 17 |
X-linked | 2 | 7.1% | Â |
Inherited maternal | 2 | Â | Â |