Table 1 Chromosome, CMA and CNV-seq results on mosaic cases of autosomal aneuploidies, sex chromosome aneuploidy and large cryptic genomic rearrangements

Mosaic cases of autosomal aneuploidies

 1

2

AF

28

Abnormal NIPS (T21)

47, XX, + 21[21]/46, XX [79]

2.21 (Chr 21)

2.29 (Chr 21)

2.22 (Chr 21)

 2

4

AF

43

AMA, hMSS (T21), abnormal NIPS (T21)

47, XY, + 21[13]/46, XY [37]

2.26 (Chr 21)

2.20 (Chr 21)

2.20 (Chr 21)

 3

6

AF

36

AMA, abnormal NIPS (T21)

47, XX, + 21[22]/46, XX [78]

2.22 (Chr 21)

2.29 (Chr 21)

2.27 (Chr 21)

 4

7

AF

30

Abnormal NIPS (T21)

47, XX, + 21[45]/46, XX [5]

2.90 (Chr 21)

3.00 (Chr 21)

2.92 (Chr 21)

 5

8

AF

31

Abnormal NIPS (T21)

47, XY, + 21[31]/47, XY [19]

2.62 (Chr 21)

2.72 (Chr 21)

2.79 (Chr 21)

 6

12

AF

39

AMA, hMSS (T21)

47, XX, + 21[41]/46, XX [59]

2.82 (Chr 21)

3.00 (Chr 21)

2.78 (Chr 21)

 7

13

AF

34

aUS (talipes valgus)

47, XY, + 18[33]/46, XY [17]

2.66 (Chr 18)

2.64 (Chr 18)

2.56 (Chr 18)

 8

14

AF

39

AMA, abnormal NIPS (T18)

47, XY, + 18[44]/46, XY [6]

2.88 (Chr 18)

2.78 (Chr 18)

2.67 (Chr 18)

 9

16

AF

41

AMA, abnormal NIPS (T15)

47, XX, + 15[4]/46, XX [96]

2.04 (Chr 15)

2.30 (Chr 15)

2.32 (Chr 15)

 10

17

AF

39

AMA, abnormal NIPS (T15)

47, XY, + 15[12]/46, XY [88]

2.12 (Chr 15)

2.49 (Chr 15)

2.36 (Chr 15)

 11

19

AF

36

AMA, abnormal NIPS (T22)

47, XX, + 22,1qh⁺[4]/46, XX, 1qh⁺[96]

2.04 (Chr 22)

2.22 (Chr 22)

2.16 (Chr 22)

 12

22

AF

34

hMSS (T18), aUS (IUGR)

47, XX, + 2[3]/46, XX [97]

2.03 (Chr 2)

2.28 (Chr 2)

2.22 (Chr 2)

 13

1

AF

27

Abnormal NIPS (T21)

47, XY, + 21[4]/46, XY [96]

2.04 (Chr 21)

Normal

2.10 (Chr 21)

 14

3

AF

33

Abnormal NIPS (T21)

47, XY, + 21[6]/46, XY [94]

2.06 (Chr 21)

Normal

2.14 (Chr 21)

 15

5

AF

32

Abnormal NIPS (T21)

47, XX, + 21[9]/46, XX [91]

2.09 (Chr 21)

Normal

2.07 (Chr 21)

 16

9

AF

31.5

Abnormal NIPS(T10)

47, XX, + 21[3]/46, XX [97]

2.03 (Chr 21)

Normal

2.08 (Chr 21)

 17

10

AF

24

hMSS (T21)

47, XX, + 21[3]/46, XX [97]

2.03 (Chr 21)

Normal

2.05 (Chr 21)

 18

15

AF

41

AMA, abnormal NIPS (T13)

47, XY, + 13[16]/46, XY [84]

2.16 (Chr 13)

Normal

2.10 (Chr 13)

 19

11

AF

39

AMA, abnormal NIPS (T21)

47, XY, + 21[5]/46, XY [95]

2.05 (Chr 21)

Normal

Normal

 20

20

AF

28

aUS (increased NF)

47, XY, + 9[7]/46, XY [43]

2.14 (Chr 9)

Normal

Normal

 21

21

AF

31

Previous pregnancy with CHD

47, XX, + 20[12]/46, XX [58]

2.17 (Chr 20)

Normal

Normal

 22

18

AF

31

Abnormal NIPS (T8)

46, XX, 9qh + 

Normal(Chr 8)

2.24 (Chr 8)

2.18 (Chr 8)

Mosaic cases of sex chromosome aneuploidy

 23

24

AF

31

Abnormal NIPS (X-)

45, X [2]/46, XX [48]

1.96(Chr X)/0 (Chr Y)

1.80 (Chr X)/0 (Chr Y)

1.87 (Chr X)/0 (Chr Y)

 24

29

CB

33

aUS (oligohydramnios)

45, X [8]/46, XX [95]

1.92 (Chr X)/0 (Chr Y)

1.80 (Chr X)/0 (Chr Y)

1.82 (Chr X)/0 (Chr Y)

 25

31

AF

28

Abnormal NIPS (X-)

45, X [13]/46, XX [87]

1.87 (Chr X)/0 (Chr Y)

1.80 (Chr X)/0 (Chr Y)

1.85 (Chr X)/0 (Chr Y)

 26

33

AF

30

Abnormal NIPS (X-)

45, X [15]/46, XX [85]

1.85(Chr X)/0 (Chr Y)

1.78 (Chr X)/0 (Chr Y)

1.82 (Chr X)/0 (Chr Y)

 27

34

AF

31

Abnormal NIPS (X-)

45, X [8]/46, XX [42]

1.84(Chr X)/0 (Chr Y)

1.62 (Chr X)/0 (Chr Y)

1.68 (Chr X)/0 (Chr Y)

 28

35

AF

30

hMSS (T21), abnormal NIPS (X-)

45, X [16]/46, XY [84]

1.84(Chr X)/0 (Chr Y)

1.80 (Chr X)/0 (Chr Y)

1.79 (Chr X)/0 (Chr Y)

 29

38

AF

38

AMA, abnormal NIPS (X-)

45, X [15]/46, XX [65]

1.81(Chr X)/0 (Chr Y)

1.43 (Chr X)/0 (Chr Y)

1.48 (Chr X)/0 (Chr Y)

 30

39

AF

28

hMSS (T21), abnormal NIPS (X-)

45, X [20]/46, XX [80]

1.80(Chr X)/0 (Chr Y)

1.74 (Chr X)/0 (Chr Y)

1.72 (Chr X)/0 (Chr Y)

 31

40

AF

28

Abnormal NIPS (X-)

45, X [23]/46, XX [77]

1.77(Chr X)/0 (Chr Y)

1.62 (Chr X)/0 (Chr Y)

1.54 (Chr X)/0 (Chr Y)

 32

42

AF

29

Abnormal NIPS (X-)

45, X [29]/46, XX [71]

1.71(Chr X)/0 (Chr Y)

1.73 (Chr X)/0 (Chr Y)

1.79 (Chr X)/0 (Chr Y)

 33

44

AF

42

AMA, hMSS (T21), abnormal NIPS (X-)

45, X [16]/46, XX [84]

1.84(Chr X)/0 (Chr Y)

1.80 (Chr X)/0 (Chr Y)

1.84 (Chr X)/0 (Chr Y)

 34

45

AF

28

hMSS (T21), abnormal NIPS (X-)

45, X [13]/46, XX [27]

1.68(Chr X)/0 (Chr Y)

1.45 (Chr X)/0 (Chr Y)

1.53 (Chr X)/0 (Chr Y)

 35

47

AF

37

AMA, aUS(increased NT and NF)

45, X [51]/46, XY [9]

1.00(Chr X)/0.15 (Chr Y)

1.00 (Chr X)/0.5 (Chr Y)

1 (Chr X)/0.45 (Chr Y)

 36

48

AF

32

hMSS (T21), abnormal NIPS (X-)

45, X [27]/47, XXX [23]

1.92 (Chr X)/0 (Chr Y)

1.70 (Chr X)/0 (Chr Y)

1.83 (Chr X)/0 (Chr Y)

 37

49

AF

28

Abnormal NIPS (X-)

45, X [34]/47, XXX [16]

1.64 (Chr X)/0 (Chr Y)

1.53 (Chr X)/0 (Chr Y)

1.70 (Chr X)/0 (Chr Y)

 38

50

AF

32

Abnormal NIPS (X-)

45, X [48]/47, XXX [2]

1.08 (Chr X)/0 (Chr Y)

1.20 (Chr X)/0 (Chr Y)

1.46 (Chr X)/0 (Chr Y)

 39

51

AF

28

aUS(increased NT)

45, X [32]/47, XXX [18]

1.72 (Chr X)/0 (Chr Y)

1.40 (Chr X)/0 (Chr Y)

1.59 (Chr X)/0 (Chr Y)

 40

52

AF

33

hMSS (T21), abnormal NIPS (X-)

45, X [23]/47, XXX [77]

2.54 (Chr X)/0 (Chr Y)

2.51 (Chr X)/0 (Chr Y)

2.58 (Chr X)/0 (Chr Y)

 41

53

AF

40

AMA, previous pregnancy with DMD

45, X [12]/47, XYY [88]

1.00 (Chr X)/1.76 (Chr Y)

1.00 (Chr X)/2.00 (Chr Y)

1 (Chr X)/1.59 (Chr Y)

 42

55

AF

28

hMSS (T21), abnormal NIPS (X-)

45, X [17]/47, XXX [10]/

46, XX [23]

1.86(Chr X)/0 (Chr Y)

2.22 (Chr X)/0 (Chr Y)

2.18 (Chr X)/0 (Chr Y)

 43

57

AF

37

AMA, abnormal NIPS (X +)

47, XXY [31]/46, XY [19]

1.62 (Chr X)/1.00 (Chr Y)

1.58 (Chr X)/1.00 (Chr Y)

1.63 (Chr X)/1.00 (Chr Y)

 44

58

AF

25

Abnormal NIPS (T9)

47, XXY [39]/46, XY [11]

1.78 (Chr X)/1.00 (Chr Y)

1.53 (Chr X)/1.00 (Chr Y)

1.66 (Chr X)/1.00(Chr Y)

 45

59

AF

38

AMA, abnormal NIPS (X +)

47, XXY [46]/46, XY [4]

1.92 (Chr X)/1.00 (Chr Y)

2 (Chr X)/1.00 (Chr Y)

2 (Chr X)/1.00 (Chr Y)

 46

60

AF

30

Abnormal NIPS (X +)

47, XXY [30]/46, XY [20]

1.60 (Chr X)/1.00 (Chr Y)

1.64 (Chr X)/1.2 (Chr Y)

1.70 (Chr X)/1.00 (Chr Y)

 47

62

AF

29

hMSS (T21)

47, XYY [26]/46, XY [24]

1.00 (Chr X)/1.52 (Chr Y)

1(Chr X)/1.70 (Chr Y)

1(Chr X)/1.76 (Chr Y)

 48

25

AF

31

Abnormal NIPS (X-)

45, X [4]/46, XX [96]

1.96(Chr X)/0 (Chr Y)

Normal

1.89 (Chr X)/0 (Chr Y)

 49

28

AF

34

hMSS (T21), abnormal NIPS (X-)

45, X [7]/46, XX [93]

1.93 (Chr X)/0 (Chr Y)

Normal

1.92 (Chr X)/0 (Chr Y)

 50

36

AF

39

AMA, hMSS (T21), abnormal NIPS (X-)

45, X [13]/46, XX [67]

1.84(Chr X)/0 (Chr Y)

Normal

1.92 (Chr X)/0 (Chr Y)

 51

37

CB

30

Abnormal NIPS (X-), aUS(IUGR)

45, X [19]/46, XY [86]

1.00(Chr X)/0.82 (Chr Y)

Normal

1.00(Chr X)/0.92 (Chr Y)

 52

41

AF

27

hMSS (T21), abnormal NIPS (X-)

45, X, 1qh⁺ [24]/

46, XX, 1qh⁺ [76]

1.76(Chr X)/0 (Chr Y)

Normal

1.92 (Chr X)/0 (Chr Y)

 53

43

AF

39

AMA, failed NIPS

45, X [19]/46, XY [42]

1.00(Chr X)/0.69 (Chr Y)

Normal

1 (Chr X)/0.77 (Chr Y)

 54

46

AF

28

Abnormal NIPS (X-)

45, X [6]/46, XX [94]

1.94(Chr X)/0 (Chr Y)

Normal

1.92 (Chr X)/0 (Chr Y)

 55

54

CB

22

aUS (oligohydramnios and abnormal soft marker)

45, X [29]/47, XYY [51]

1.00 (Chr X)/1.28 (Chr Y)

Normal

1 (Chr X)/0.8 (Chr Y)

 56

56

AF

35

AMA, abnormal NIPS (X +)

47, XXY [28]/46, XY [72]

1.28 (Chr X)/1.00 (Chr Y)

Normal

1.15 (Chr X)/1.00 (Chr Y)

 57

23

AF

32

aUS (increased NF), Abnormal NIPS (X-)

45, X [4]/46, XX [100]

1.96(Chr X)/0 (Chr Y)

Normal

Normal

 58

26

AF

23

hMSS (T18), abnormal NIPS (X-)

45, X [5]/46, XX [95]

1.95 (Chr X)/0 (Chr Y)

Normal

Normal

 59

27

AF

38

AMA

45, X [1]/46, XY [49]

45,X[4]/46,XY[69] ^ǂ

1.98 (Chr X)/0 (Chr Y)

Normal

Normal

 60

30

AF

37

AMA, abnormal NIPS (X-)

45, X [9]/46, XX [91]

1.91 (Chr X)/0 (Chr Y)

Normal

Normal

 61

32

AF

28

Previous pregnancy with duplication of 11p15.5p15.4 (3.6 Mb)

45, X [14]/46, XY [90]

1.00 (Chr X)/0.87 (Chr Y)

Normal

Normal

 62

61

CB

31

Abnormal NIPS (X +)

47, XXX [3]/46, XX [47]

2.06 (Chr X)/0 (Chr Y)

Normal

Normal

Mosaic cases of large cryptic genomic rearrangements

 63

63

CB

33

hMSS (T21), aUS (VSD)

46, XX

/

arr[hg19]8p21.3p11.21(19,832,920–41,268,763) × 2.23

seq[hg19] dup(8)(p22-p11.1) chrX:g.18500000–43,800,000 dup 25.3 Mb × 2.23

 64

64

AF

29

hMSS (T21), abnormal NIPS (X-)

45, X [25]/46, X, del(X)(q21.2) [25]

/

arr[hg19] Xq21.31q28(91,397,723–155,233,098) × 1

arr [hg19] Xp2.33q21.31(1,832,912–87,597,750) × 1.51

arr[hg19](Y) × 0

seq[hg19] dup(X)(p22.33q21.31)

chrX:g.2700000–90,720,000 dup 84.86 Mb × 1.53

seq[hg19] dup(X)(q21.31q28) chrX:g.90720000–154,940,000 dup 64.22 Mb × 1.042

seq[hg19](Y) × 0

 65

65

AF

23

aUS (increased NT)

46, X, Yp⁺ [29]/45, X [21]

/

arr[hg19]Yq11.222q11.223(20,885,550–24,889,194) × 2

seq[hg19] dup(Y)(q11.221q11.223) chrY:g.19,520,000–24,520,000 dup 5.00 Mb × 2

 66

66

AF

29

Abnormal NIPS (X-)

46, X, + mar [34]/45, X [16]

/

arr[hg19] Xp22.33p11.21

(168,551–55,476,636) × 1

arr[hg19] Xq13.2q28

(72,016,380–155,233,098) × 1

arr[hg19](Y) × 0

seq[hg19] del(X)(p22.33p11.21) chrX:g.2,700,000–55,560,000 del 52.86 Mb × 1.042

seq[hg19] del(X)(q13.2q28) chrX:g.72,200,000–154,940,000 del 82.74 Mb × 1.05

arr[hg19](Y) × 0

 67

67

AF

27

Abnormal U/S (increased NT)

48, XX, + idic(X)(p11.2), + 21 [43]/47, XX, + 21 [7]

/

arr(21) × 3

arr[hg19] Xp11.21q28

(57,435,464–155,233,098) × 4

seq[hg19]dup(21)(q11.2q22.3) chr21:g.14300000_48129895 dup 32.26 Mb × 2.971

seq[hg19]dup(X)(p22.31q28) chrX:g.6100000–154,940,000 dup 93.72 Mb × 3.111