Table 2 aCGH results

1

13

1000

1.97

161

0.3

HR

arr (1-22,X) x2

Euploid female

2

12

1000

1.92

85

0.42

HR

arr (1-22,X) x2, gain 70Kb at 1q42.13, loss 230Kb at 3q27.2

Female with unclassified CNV

3

15

500

2.02

28.6

0.47

LR

arr (1-22,X) x2

Euploid female

4

13

250

2.03

10.4

0.45

LR

arr (1-22,X) x2

Euploid female

5

15

1000

1.99

83

0.67

HR

arr (1-22,X)x2, gain 660Kb at 5q13.1, gain 330Kb at 5q32

Female with unclassified CNV

6

13

550

1.91

23

0.33

HR

arr mos 7p11.2-q11.23 (55,824,493-75,930,688) x1

Male with mosaic deletion including Williams syndrome chromosome region

7

35

800

2.01

47.8

0.28

HR

arr (1-22) x2, (XY) x1

Euploid male

8

14

1000

21.93

446

0.28

HR

arr (1-22,X) x2

Euploid female

9

2

I

-

Insufficient fetal tissue

10

2

I

-

Insufficient fetal tissue

11

9

220

1.98

26.6

0.71

LR

arr (1-12,14-22) x2, mos (13) x3, mos (X) x2, mos (Y) x1

MCC in T13 male v. vanished T13 female twin v. chimeric pregnancy v. true mosaic

12

9

460

1.62

14.9

0.7

LR

arr (1-20,22,X) x2 (21) x3

Female with Trisomy 21

13

47

1000

1.9

154

0.26

HR

arr (1-22,X) x2

Euploid female

14

27

600

2.01

41.8

0.4

LR

arr (1-22,X) x2

Euploid female

15

40

1000

1.91

92

0.34

HR

arr18p11.32q23 (1-78847598)x3;

Female with Trisomy 18

16

37

1000

2.05

94.2

0.32

HR

arr (1-22, X) x2

Euploid female

17

41

300

1.9

15.7

0.31

HR

arr 11p11.32q23 (1-135006515)x3

Male with Trisomy 11

18

30

1.99

56.4

I

-

Insufficient fetal tissue

19

1

I

-

Insufficient fetal tissue

20

50

750

1.88

48.4

0.44

HR

arr4p16.3p15.2 (230836-27342422) x1, arr5q33.2q35.3 (154280916-180674029) x3

Male with unbalanced 4p-5q translocation; known paternal paracentric inversion