Skip to main content

Table 3 Models of inheritance observed across 28 molecular diagnoses in 61 cases

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

 

2

Inherited maternal

1

  

Inherited,paternal

1

 

2

Autosomal recessive

13

46.45%

17

Homozygous

1

  

Compound heterozygous

12

 

17

X-linked

2

7.1%

 

Inherited maternal

2

 Â