Table 3 Detailed clinical data and karyotype results at the gain of genome

1p36.33

3 (3.6%)

46,XX or 46,XY

3q29

13 (15.7%)

46,XX or 46,XY

mos 45,X [14]/46,X,+mar [12]

47,X,Yqh+,+ 21

46,XX,der(10)t(3;10)(q21;p13)mat

46,XY,add(8)(p21.3)

mos 47,XY,15 ps+,+ 20 [14]/46,XY,15 ps + [36]

46,XY,der(4)(pter→q?33::p?15.2 → pter)

46,XX,der(21)t(4;21)(p16.1;q22.2)pat

46,XX,+ 4,der(4)t(4;13)(q21.3;q12.3)pat.-13

5p15

2 (2.4%)

46,XY

46,XY,t(4;5)(q25;p14.3)mat

7q11.23

3 (3.6%)

47,XX,+ 7

46,XX

mos 47,XY,+ 7 [39]/46,XY [11]

8q24

3 (3.6%)

47,XX,+der(14)t(8;14

46,XY,der(20)t(8;20)(q23;p13)mat

mos 47,XX,+ 8 [22]/46,XX [15]

9q22.3

2 (2.4%)

46,XY,der(9)inv.(9)(p12q13)t(9;13)(p22;q32)

47,XX,+ 9

10p14

3 (3.6%)

46,XX,9qh+

47,XX,+ 18

mos 47,XY,+ 10 [43]/46,XY [3]

15q11.2

6 (7.2%)

15q11.2

4

46,XX or 46,XY

15q24

2

46,XY

46,XX,der(7)t(7;15)(q36.3;q15)

16p13.3

5 (6.0%)

mos 47,XY,+ 16 [24]/46,XY [7]

46,XX or 46,XY

47,XX,+ 16

17p13.3

4 (4.8%)

46,XX,t(2;8)(q35;q22)mat

46,XX or 46,XY

17q21.31

1 (1.2%)

46,XY

22q

33 (39.8%)

22q11

15 (18.0%)

46,XX or 46.XY

mos 47,XX,+ 7 [30]/46,XX [20]

46,XY,1qh+,der(9)t(9;18)(p24;q21.3)pat

47,XY,+der(22)t(13;22)(q34.1;q11.2)mat

22q13

18 (21.7%)

46,XX or 46,XY

47,XX,+der(22)t(20;22)(p13;q11.2)mat

47,XY,+ 22

47,XY,+ 18

46,XY,der(15)t(15;22)(q26.1;q13.3)mat

47,XX,+der(22)t(11;22)(q23.3;q11.2)mat

mos 44,00,der(6)inv.(6)(p11.2q27)t(6;21)(q27;p11),

\der(13;14)(q10;q10)pat [26]/45,00,der(13;14)pqt [16]

Xq28

1 (1.2%)

46,XX

Total

83