Table. 3 Inheritance pattern of genes and type of variant identified.
From: An approach to integrating exome sequencing for fetal structural anomalies into clinical practice
All cases n = 104 | Single affected fetus n = 71 | Multiple affected fetus n = 27 | |
|---|---|---|---|
Autosomal dominantN = 15 | |||
De novo | 11 | 11 | 0 |
De novo/mosaic in fetus | 1 | 1 | 0 |
Inherited (maternal or paternal) | 3 | 0 | 3 |
Autosomal recessiveN = 15 | |||
Compound heterozygous | 13 | 9 | 4 |
Homozygous | 2 | 1 | 1 |
X-linkedN = 1 | |||
De novo | 1 | 1 | 0 |
