Table 1 Clinical and Demographic Characteristics

Case 1

f

n/a

0.1

1.2

n

y

severe

n/a

Case 2

f

47, XX, i(12)(p10) [1]/46, XX,[99] (karyotype on blood)

0.1

3

y

n

moderate

50

Case 3

m

47,XY, i(12)(p10) [19]/46,XY [16] (karyotype on fibroblasts from hyperchromic skin biopsy)

arr[GRCh37] 12p13.33p11.1 (191619_34853011)x2-4 (SNP array on hyperchromic skin biopsy)

0.3

3

y

n

moderate

54

Case 4

f

arr12p13.33p11.1 (Array-CGH on unknown sample)

0.3

7.2

y

n/a

n/a

n/a

Case 5

f

arr[GRCh37] 12p13.33p11.1 (191619_34826574)x2-4 (Array-CGH on unknown sample)

0.4

2.4

n

n

severe

70

Case 6

f

arr[hg19]12p13.33p11.1 (0-43257397 × 3, 34,294,005 × 2) (Array-CGH on unknown sample)

0.4

1.4

n

y

severe

n/a

Case 7

m

47, XY, +i(12)(p10) [20]/46, XY [4] (Karyotype on fibroblasts)

0.8

2.5

y

y

severe

90

Case 8

f

arr12pterp11.1 (163,593 − 34,398,316)x2-4 (Array-CGH on blood)

0.8

10.8

y

n

mild

45

Case 9

f

arr [hg19] 12p13.33p11.1 (163, 679 − 34,760,977) x2 3 (Array-CGH on blood)

0.9

1.5

n

n

severe

64

Case 10

f

ish12(D1221 × 3,wep12 × 3,pcp12p11.2p13 × 4) [21]/12(D12Z1 × 2,wep12 × 2, pep12p11.2p13 × 2) [22] (FISH on fibroblasts)

0.9

3.7

y

n/a

moderate

n/a

Case 11

m

47, XY, i(12p) [7]/46, XY [23] (karyotype on fibroblasts)

1

6.4

y

y

severe

99

Case 12

f

arr12p13.33p11.1 (Array-CGH on buccal epithelial cells)

1

6.3

n

y

severe

62

Case 13

m

n/a

1.2

7.5

y

y

n/a

n/a

Case 14

m

Mos 47, XY arr[hg19] 12p13.33p11.1(148,375 − 34,760,977)x3 (karyotype on blood)

1.4

7.4

y

n

severe

n/a

Case 15

m

47,XY + i(12p) [22],46,XY [5].ishi(12p)(cp12) (karyotype on fibroblasts)

1.5

1.4

y

y

severe

n/a

Case 16

m

n/a

1.6

2.7

y

y

severe

n/a

Case 17

f

47,XX,+i(12)(p10) [6]/46,XX [4] (karyotype on blood);

arr[GRCh37)12p13.33p11.1(194249_34398316)x3-4 (Array-CGH on blood)

2

4.3

n

n

mild

n/a

Case 18

f

47,XX, +i(12p)(p10) [24]/46,XX [3] (karyotype on fibroblasts)

2.4

2.4

n

n

mild

62

Case 19

m

47, XY, i(12)(p10)/46, XY (karyotype on fibroblasts)

2.7

16.4

y

y

severe

n/a

Case 20

m

arr12p13.33p11.2 (Array-CGH on unknown sample)

3

9

y

n/a

severe

n/a

Case 21

f

Ish 12p13(TELx2) [25]/12p13 (TEL x 3) [26] 12p13(TELx4 [24] (FISH on buccal epithelial cells)

3.7

4.5

y

n

mild

n/a

Case 22

f

47, XX, i(12)(p10) [2]/46, XX [98] (karyotype on amniocentesis)

4.1

11.8

n

y

severe

51

Case 23

f

arr [hg19] 12p13.33p11.1 (163, 618 − 34,756,180) x2-3 (Array-CGH on blood)

4.5

10.2

y

y

moderate

100

Case 24

f

46, XX [21],47XX + i(12p) [22] (karyotype on fibroblasts)

4.9

17.6

y

y

severe

68

Case 25

f

Ish 12p13 (TELx4) [27]/(TELX3) [28]/(TELX2) [29] (FISH on buccal epithelial cells)

4.9

5

y

y

severe

n/a

Case 26

m

n/a

7

18.2

y

y

severe

n/a

Case 27

m

12p13.33p11.1 (Array-CGH on unknown sample)

9.1

11.7

y

n

mild

n/a

Case 28

m

47,XY, i(12)(p10) (karyotype on blood)

11.4

17.4

y

y

severe

62

Case 29

f

47, XX, i(12p) (karyotype on blood)

11.6

11.6

y

n

moderate

69

Case 30

m

47, XY, i(12)(p10)/46, XY (karyotype on buccal epithelial cells)

13.1

14.4

n

n

severe

62

Case 31

m

47, XX, i(12p) (karyotype on fibroblasts)

17.5

17.6

y

n/a

severe

n/a