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Table 3 Information about gene pathogenicity

From: Analysis of autosomal dominant genes impacted by copy number loss in 24,844 fetuses without structural abnormalities

Group

One patient or family reported

Susceptibility

Somatic

ARorDD

Only AD

 different genes

(n = 128)

14

(10.9%)

18

(14.1%)

6

(4.7%)

40

(31.3%)

63

(49.2%)

 Total number of genes (n = 202)

16

(7.9%)

22

(10.9%)

8

(4.0%)

51

(25.2%)

122

(60.4%)

 Inherited

(n = 81)

10

(12.3%)

9

(11.1%)

1

(1.2%)

19

(23.5%)

49

(60.5%)

 De novo

(n = 42)

2

(4.8%)

6

(14.3%)

4

(9.5%)

12

(28.6%)

22

(52.4%)

 Unknown origin

(n = 79)

4

(5.1%)

7

(8.9%)

3

(3.8%)

20

(25.3%)

51

(64.6%)

  1. AR, Autosomal recessive, DD, Digenic dominant, AD, Autosomal dominant