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Table 4 Genetic study of congenital heart defects: Copy number variations of CHD

From: Incidence, distribution, disease spectrum, and genetic deficits of congenital heart defects in China: implementation of prenatal ultrasound screening identified 18,171 affected fetuses from 2,452,249 pregnancies

 

Congenital heart defect

Copy number variation(s)

Genotype(s)

Clinical significance

Chromosome(s) involved

1

AS

46, XY, del (22q11.21)(2.1M)

Microdeletion

Pathogenic

Chr. 22q

2

AVSD

46, XX, dup (16q21q22.2)(7.2M)

Microrepetition

Pathogenic

Chr. 16q

3

AVSD

46,XX, del (10q21.3,68.2–68.4,149k) CTNNA3

Microdeletion

Pathogenic

Chr. 10q

4

COA/IAA

46, XX, dup (16p11.2)(0.7M)

Microrepetition

Pathogenic

Chr. 16p

5

COA/IAA

46, XY, dup (16p13.3p13.11)(14.8M)

Microrepetition

Pathogenic

Chr. 16p

6

COA/IAA

46, XX, del (7q33q36.3)(21.5M)

Microdeletion

Pathogenic

Chr. 7q

7

COA/IAA

46, XX, del (22q11.21)(1.4M)

Microdeletion

Pathogenic

Chr. 22q

8

DORV

46,XX, del (22q11.2,2.58M)

Microdeletion

Pathogenic

Chr. 22q

9

DORV

46,XX, del (22q11.21,2.56M),del(6p21.1-12.3,666k)

Microdeletion

Pathogenic

Chr. 22q

10

DORV

46,XX, del (7q11.23,72.3–74.1, 1.7M)

Microdeletion

Pathogenic

Chr. 7q

11

HRHS

46,XY, dup (7q35q36.3,144.4-159.1,14.6M),del(1p36.33p36.32,0.7–4.1,3.3M)

Microrepetition

Pathogenic

Chr. 7q

12

HRHS

46, XX, del (3q29)(1.2M)

Microdeletion

Pathogenic

Chr. 3q

13

HRHS

46, XY, del (3q11.2q12.3)(4.4M)

Microdeletion

uncertainty

Chr. 3q

14

HRHS

46,XY, del (22q13.33,49-51.1,2.1M)

Microdeletion

Pathogenic

Chr. 22q

15

HRHS

46,XY, del (22q11.21,980KB)

Microdeletion

Pathogenic

Chr. 22q

16

HRHS

46,XY, del (7q36.1q36.3).seq[GRCh37/hg19](148287830–159128557)X1

Microdeletion

Pathogenic

Chr. 7q

17

HRHS

46, XX, del (5p14.1p15.33)(28.8M)

Microdeletion

Pathogenic

Chr. 5p

18

PLSVC

46,XY, dup (12p13.31-ter,8.9M),dup(13q31.1-12.11,61M)

Microrepetition

Pathogenic

Chr. 12p

19

PLSVC

46, XY, dup (22q11.21)(2.6M)

Microrepetition

Pathogenic

Chr. 22q

20

PLSVC

46, XY, del (8p23.1)(4.2M)

Microdeletion

Pathogenic

Chr. 8p

21

PTA

46, XX, dup (16p13.11)(1.2M)

Microrepetition

Pathogenic

Chr. 22q

22

PTA

46, XY, dup (22q11.21)(3M)

Microrepetition

Pathogenic

Chr. 16p

23

PTA

46, XY, del (22q11.21)(2.7M)

Microdeletion

Pathogenic

Chr. 22q

24

SV

46,XX, del (3p25.3p26.3).seq[GRCh37/hg19](60064-10330214)X1

Large segment deletion

Pathogenic

Chr. 3p

25

TBS

46, XX, dup (2q11.1q12.3)(14.8M)

Microrepetition

Pathogenic

Chr. 2q

26

TBS, ECD

46, XY, dup (6q23.3q27)(32.8M)

Microrepetition

Pathogenic

Chr. 6q

27

TOF

46, XX, del (8p23.1p23.3)(7.1M)

Microrepetition

Pathogenic

Chr. 8p

28

TOF

46,XX, del (11q24.1-ter,12.4M),dup(15q26.3,3.3M)

Microdeletion

Pathogenic

Chr. 11q

29

TOF

46,XY, del (3q11.2q12.3).seq[GRCh37/hg19](98110933–102528219)X1, 46,XY, del (22q13.2q13.33).seq[GRCh37/hg19](44151871–51225558)X1

Microdeletion

Pathogenic

Chr. 22q and 3q

30

TOF

46, XY, del (22q13.2q13.33)(7.1M)

Microdeletion

Pathogenic

Chr. 22q

31

TOF

46, XY, del (22q11.21)(1.4M), 46, XY, del (22q11.21)(2.6M)

Microdeletion

Pathogenic

Chr. 22q

32

TOF

46, XX, del (22q11.21)(1.4M), del (22q11.21)(0.8M), 46, XY, dup (3p26.3p14.3)(57.7M)

Microdeletion, Microrepetition

Pathogenic

Chr. 22q and 3p

33

TOF

46,XY, dup (3q21.3q27.1).seq[GRCh37/hg19](128583592–184371766)X3

Large segment repetition

Pathogenic

Chr. 3q

34

VSD

46,XY, dup (12p13.31-ter,8.9M),dup(13q31.1-12.11,61M)

Microrepetition

Pathogenic

Chr. 12p

35

VSD

46,XY, dup (22q11.21q11.22,18.6–21.4, 2.8M)

Microrepetition

Pathogenic

Chr. 22q

36

VSD

46, XY, dup (2p23.2p25.3)(28.2M)

Microrepetition

Pathogenic

Chr. 2p

37

VSD

46, XY, dup (16p13.11p13.12)(2M)

Microrepetition

Pathogenic

Chr. 16p

38

VSD

46,XX, del (22q11.21).seq[GRCh37/hg19](18887652–19009027)X1

Pathogenic

Pathogenic

Chr. 22q

39

VSD

46,XY, del (10q21.3,68.2–68.5, 272k)CTNNA3,del(16p12.2,141k)

Pathogenic

Pathogenic

Chr. 10q

40

VSD

46,XX, del (22q11.21,200k)

Microdeletion

Pathogenic

Chr. 22q

41

VSD

46,XY, del (22)(q11.21q11.22,2.56M)

Pathogenic

Pathogenic

Chr. 22q

42

VSD

46, XY, del (13q31.1q34)(29.5M)

Pathogenic

Pathogenic

Chr. 13q

43

VSD

46,XY, del (22q11.2,18.89–20.3,1.4M)

Microdeletion

Pathogenic

Chr. 22q

44

VSD

46,XY, del (22q11.21,2.95M),UPD(11p11.2p11.11,3.4M), 46,XY, del (1p36.21p36.33).seq[GRCh37/hg19](823534-15632453)X1

Microdeletion

Pathogenic

Chr. 22q and 1p

45

VSD

46,XX, dup (12p11.1p13.33).seq[GRCh37/hg19](60105-34812049)X3

Large segment repetition

Pathogenic

Chr. 12p

46

VSD

46,XY, dup (3p26.3p14.3).seq[GRCh37/hg19](60064-57755328)X3

Large segment repetition

Pathogenic

Chr. 3p

47

ACRR

46,XY, dup (22q11.21q11.22,18.6–21.4, 2.8M)

Microrepetition

Pathogenic

Chr. 22q

48

DORV, PS, Dextrocardia

46,XX, del (22q11.21,18.8–21.4,1.21M)

Microdeletion

Pathogenic

Chr. 22q

49

HRHS, TVS, VSD

46,XX, del (17)(p13.3, 0.018–2.63,2.61M),dup(4)(q13.1,63.8–65,1.2M)

Microdeletion Microrepetition

Pathogenic

Chr. 17p and 4q

50

IAA, VSD, PLSVC

46,XX, dup(8p12-ter,32.7M),del(5p15.33,3.2M)

Large segment repetition

Pathogenic

Chr. 8p and 5p

51

IAA, VSD, PLSVC

46,XX,del (7q33q36.3).seq[GRCh37/hg19](137529688–159068966)X1

Large segment deletion

Pathogenic

Chr. 7q

52

TGA, RAA

46, XY, dup (14q31.3q32.33)(20.4M)

Microrepetition

Pathogenic

Chr. 14p

53

TGA, RAA

46, XX, del (22q11.21)(1.7M)

Microdeletion

Pathogenic

Chr. 22q

54

TOF, PA

46, XY, del (22q11.21)(2.7M)

Microdeletion

Pathogenic

Chr. 22q

55

TOF, PA

46, XY, dup (3q21.3q26.1)(33.9M), dup (3q26.1q27.1)(21.8M)

Microrepetition

Pathogenic

Chr. 3q

56

VR (RDA)

46, XX, dup (10q11.21q24.32)(61.3M)

Microrepetition

Pathogenic

Chr. 10q

57

VR(ALSA)

46, XX, del (3p25.3p26.3)(10.3M)

Microdeletion

Pathogenic

Chr. 3p

58

VR(ALSA)

46, XX, del (22q11.21)(3M)

Microdeletion

Pathogenic

Chr. 22q

59

VR(ALSA)

46, XX, del (22q11.21)(1.4M)

Microdeletion

Pathogenic

Chr. 22q

60

VR(DAA)

46, XX, del (5p14.3p15.33)(19.5M)

Microdeletion

Pathogenic

Chr. 5p

61

VSD, PA

46, XY, del (1p36.21p36.33)(14.8M)

Microdeletion

Pathogenic

Chr. 1p

62

VSD, PLSVC

46,XY, del (22q11.21).seq[GRCh37/hg19](18920346–21601628)X1, 46, XX, dup (12p11.1p13.33)(34.8M)

Large segment deletion, Microrepetition

Pathogenic

Chr. 22q

63

Atrioventricular block

46,XX, dup (15q11.2,20.1–23, 2.93M)

Microrepetition

Suspected pathogenic

Chr. 15q

64

DORV

46,XY, dup (16p11.1p11.2,4.0M) CTF1

Uniparental disomy

Suspected pathogenic

Chr. 16p

65

HS

46,XY, dup (3p26.3,0.9–1.4,488K)

Microrepetition

Suspected pathogenic

Chr. 3p

66

PS

46,XY, dup (1q21.2-21.3,148-149.7,1.728M)

Microrepetition

Suspected pathogenic

Chr. 1q

67

TBS, ECD

46, XX, del (16p11.2)(0.7M)

Microdeletion

Suspected pathogenic

Chr. 16p

68

TOF

46, XX, dup (Xp22.2)(0.2M)

Microrepetition

Suspected pathogenic

Chr. Xp

69

TOF

46,XX, dup (6q25.1-25.3,151.5-158.1,6.6M)

Microrepetition

Suspected pathogenic

Chr. 6q

70

TOF

46,XY, dup (6q23.3q27).seq[GRCh37/hg19](138052325–170879606)X3

Large segment deletion, Microrepetition

Suspected pathogenic

Chr. 6q

71

TOF

46, XX, del (22q11.21)(0.1M)

Microdeletion

Suspected pathogenic

Chr. 22q

72

TOF(PA)

46, XY, del (16p13.3)(0.1M), del (22q11.21)(2.6M)

Microdeletion

Suspected pathogenic

Chr. 16p

73

VSD

46,XY, dup (1q21.2-21.3,148-149.7,1.728M)

Microrepetition

Suspected pathogenic

Chr. 1q

74

VSD

46,XX, dup (15q11.2,20.1–23, 2.93M)

Microrepetition

Suspected pathogenic

Chr. 15q

75

VSD

46,XY, dup (2p25.3p23.2),seq[GRCh37/hg19](10001-28278298)X3

Microrepetition

Suspected pathogenic

Chr. 2p

76

VSD

46, XX, del (16p12.2)(0.8M)

Microdeletion

Suspected pathogenic

Chr. 16p

77

VSD

46,XX, dup (1)(p22.1p21.3,92-94.8,2.8M), 46,XY, dup (3p26.3,0.9–1.4,488K)

Microrepetition

Suspected pathogenic

Chr. 1p and 3p

78

VSD, IAA

46,XX, UPD (16p11.1p11.2,4.7M) CTF1

Uniparental disomy

Suspected pathogenic

Chr. 16p

79

ACRR

46,XX, dup (1)(p22.1p21.3,92-94.8,2.8M)

Microrepetition

Suspected pathogenic

Chr. 1p

  1. AB = atrioventricular block. ACRR = abnormal cardiac rate and rhythm. ALSA = aberrant left subclavian artery. AS = aortic stenosis. AVSD = atrioventricular septal defect. COA/IAA = coarctation of the aorta/interrupted aortic arch. DAA = double arch of the aorta. DORV = double-outlet right ventricle. ECD = endocardial cushion defect. HRHS = hypoplastic right heart syndrome. HS = heterotaxy syndrome. IAA = interrupted aortic arch. PA = pulmonary atresia. PLSVC = persistent left superior vena cava. PS = pulmonary stenosis. PTA = persistent truncus arteriosus. RAA = right aortic arch. RDA = right descending aorta. SV = single ventricle. TBS = Taussig Bing syndrome. TGA = transposition of the great arteries. TOF = tetralogy of Fallot. TVS = tricuspid valve stenosis. VR = vascular ring. VSD = ventricular septal defect
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Cell & Bioscience

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