Table 1 Seventy-four families with affected children having deletion or duplication in one or two chromosomal regions included in this study are listed here. Overall 81 copy number variations (CNVs) distributed on all human chromosomes apart from #11 and Y-chromosome were studied. Cases with two CNVs were numbered as A and B, i.e. cases 11, 13, 14, 17, 19 and 46. For the index patient the chromosomal region affected, the mode of inheritance of the CNV (origin) and the gender are given here; for more details see Additional file 1: Table S1

1

2q21.1q21.3

del(mat/pat)cons.

n.a.

37

7p12.3p14.1

inv(mat)

m

2

12q15q21.2

del(mat)

f

38

4q13.3q22.1

inv(mat)

f

3

15q11.2

del(mat)

f

39

16p11.2

inv(mat)

f

4

6q14.3q15

del(mat)

f

40

17q21.31q21.31

inv(mat)mos

n.a.

5

6q22.33

del(mat)

m

41

2q23.1q23.2

inv(mat)mos

m

6

Xp22.33

del(mat)

m

42

7q32.3q33

inv(pat)

n.a.

7

12p12.3p12.3

del(mat)

m

43

7q31.32q32.2

inv(pat)

m

8a

4q13.2q21.21

del(mat)

m

44

6q21q22.31

inv(pat)

m

9

16p11.2

del(mat)

m

45

15q26.1q26.3

inv(pat)

m

10

2p16.3

del(mat)

f

46a

2p14

inv(pat)

m

11a

16p13.11

del(mat)

n.a.

47

15q13.2-q13.3

de novo

n.a.

11b

16p13.11

del(mat)

n.a.

48

8q24.3q24.3

de novo

n.a.

12

1q43q44

del(mat)

n.a.

49

19p13.2p13.3

de novo

m

13a

16p12.2

del(mat)

m

50

1p32.1p31.1

de novo

f

14a

14q12

del(mat)mos

n.a.

51

7q31.1q31.1

de novo

f

14b

15q11.2

del(mat)mos

n.a.

52

14q12

de novo

n.a.

15

7q11.23q21.11

del(pat)

f

53

16p11.2

de novo

n.a.

16

1q21.1

del(pat)

m

19b

15q11.2q13.1

de novo

f

17a

16p13.11

del(pat)

n.a.

54

12q12q13.11

de novo

m

17b

16p11.2

del(pat)

n.a.

55

13q22.2q31.1

de novo

f

18

18p11.32

del(pat)

m

56

10q22.3q23.2

de novo

n.a.

19a

2q13

del(pat)mos

f

57

7p15.3p15.2

de novo

m

20

7q22.1

del(pat)mos

m

58

6q13q15

de novo

n.a.

21

15q11.2

dup(mat)

n.a.

59

4q21.22q22.1

de novo

f

22

5q11.1q11.2

dup(mat)

n.a.

60

4q35.2

de novo

n.a.

8b

22q12.3q13.2

dup(mat)

m

61

3q26.3q27.3

de novo

n.a.

23

3q29

dup(mat)

n.a.

62

6q21q22.33

de novo

m

24

3q29

dup(mat)

n.a.

63

3p14.1p12.3

de novo

n.a.

25

19p13.3p13.3

dup(mat)

m

64

12q15q21.1

de novo

f

26

22q11.21

dup(mat)mos

m

65

16q24.1q24.2

de novo

n.a.

27

7q34q36.3

dup(mat)mos

n.a.

66

7p15.3

de novo

n.a.

28

4q13.1

dup(pat)

n.a.

67

9q22.31q22.33

de novo

n.a.

29

7q31.31q31.33

dup(pat)

f

68

16q24.1q24.3

de novo

n.a.

30

4q25

dup(pat)

n.a.

69

2q31.1

de novo

n.a.

31

13q12.13

dup(pat)

n.a.

70

21q22.12q22.2

de novo

n.a.

13b

8p23.1p22

dup(pat)

m

71

5q35.2q35.3

de novo

n.a.

32

4q21.21q21.23

inv(mat)

m

72

4q21.1q21.21

de novo

n.a.

33

20p12.3

inv(mat)

n.a.

73

10q11.22q11.23

de novo

n.a.

34

1p36.13p16.11

inv(mat)

n.a.

46b

2q31.2q31.3

de novo

m

35

17q12

inv(mat)

m

74

7q32.3q33

de novo

n.a.

36

17q21.31q21.31

inv(mat)

m