Table 1 Summary of patient characteristics and CNV findings

Number of patients

68

41

27

 Male

60

39

21

 Female

8

2

6

Age range (median) [years]

2–33 (25)

22–33 (27)

2–15 (5)

Intelligence quotient (median)

N/A

75–129 (96)

N/A

Total number of CNV

15

8

7

(Detection rate  %)

(22.1)

(19.5)

(25.9)

 Detected in male

13

8

4

 (Detection rate  %)

(21.7)

(20.5)

(19.0)

 Detected in female

2

0

3

 (Detection rate  %)

(25)

(0)

(50)

Clinical significant CNV

8

5

3

(Diagnostic yield  %)

(11.8)

(12.2)

(11.1)

 Detected in male

6

5

1

 (Diagnostic yield  %)

(10)

(12.8)

(4.8)

 Detected in female

2

0

2

 (Diagnostic yield  %)

(25)

(0)

(33.3)