Skip to main content

Table 2 Type, number, size and inheritance of the CNVs found according to the clinical interpretation

From: Predictive diagnostic value for the clinical features accompanying intellectual disability in children with pathogenic copy number variations: a multivariate analysis

Variable

Patients with pathogenic CNVs

Patients with benign CNVs

Patients with unknown CNVs

 

N = 27

N = 12

N = 2

Type

   

Deletion

21 (77.8%)

2 (16.7%)

 

Duplication

3 (11.1%)

9 (75.0%)

2 (100%)

Duplication and deletion

3 (11.1%)

1 (8.3%)

 

No. CNVs

   

1

22

8

2

≥2

5

4

 

Size

   

≤0.5 Mb

 

6 (50%)

2 (100%)

>0.5 Mb

27 (100%)

6 (50%)

 

Inheritance

   

De novo

21 (77.8%)

1 (8.3%)

 

Familial

5 (18.5%)

7 (58.3%)

2 (100%)

Unknown

1 (3.7%)

4 (33.3)