Table 2 Clinical data from 15 patients with 45,X/46,XY mosaicism or its variants

1

45,X/46,XY

-

-

MGD

F

5

1

SCR

-

I, DT

I, DT

2

45,X/46,XY

-

-

MGD

F

23

4

PER

+

LS, T

AB, S

3

45,X/46,XY

-

-

MGD

F

20

3

SCR

-

I, T

I, S

4

45,X/46,XY

-

-

MGD

M

10

21

PEN

-

LS, T

AB, S

5

45,X/46,X,idic(Y)(p11.2)

45,X.ish(DXZ1+, DYZ3-)/46,X,idic(Y).ish idic(Y)(p11.2) (DXZI+, DYZ3++)

-

MGD ? OT DSD?

M

1.5

18

PS

-

LS, NB

LS, NB

6

45,X/46,X,del(Y)(q12)

-

-

MGD

M

19

180

SCR or PS¹

-

LS, DT

AB, S

7

45,X/46,XY

-

-

MGD

M

1.75

20

normal male

-

AB, NB²

AB,NB²

8

45,X/46,XY

-

-

MGD

M

7

45

SCR

-

AB, S

LS, T

9

45,X/46,XY

-

-

TS

F

6.5

75

normal female

+

AB, S

AB, S

10

45,X/46,X,+mar

45,X.ish(DXZ1+,DYZ3-)/46,X,+mar.ish der (Y)

Y + ³

MGD

F

5

3

PS

-

LS, T

AB, S

(DXZ1+, DYZ3+)

11

45,X/46,XY

-

-

MGD

M

3

1.5

PS

-

I, S

LS, T

12

45,X/46,XY

-

-

OTDSD

M

0.2

0.1

SCR

-

LS, T

AB, O

13

45,X/46,X,+mar

45,X.ish(DXZ1+,DYZ3-)/46,X,+mar.ish der(Y)

Y + ³

MGD

M

17

192

SCR

-

LS,NB²

AB, S

(DXZ1+, DYZ3+)

14

45,X/46,X,idic(Y)(p11.2)/47,X,idic(Y)(p11.2),idic(Y)(p11.2)

45,X.ish(DXZ1+, DYZ3-)/46,X,idic(Y).ish idic(Y)(p11.2) (DXZ1+,DYZ3++)/

MGD

F

1.5

0.33

PS

LS, T

AB, S

47,X,idic(Y),idic(Y).ish idic(Y)(p11.2)(DXZ1+, DYZ3++), idic(Y)(p11.2)(DXZ1+,DYZ3++)

15

45,X/46,X,+mar1/46,X,+mar2/ 47,X,+2mar1/47,X,+mar1,+mar2

45,X.ish(DXZ1+,DYZ3-)/46,X,+mar1.ish dic der(Y)

Y + ³

MGD

F

0.2

1

SCR

-

LS, T

I, S

(DXZ1+, DYZ3++)/

46,X,+mar2.ish der(Y)

(DXZ1+, DYZ3+)/

47,X,+mar1. ish dic der(Y)

(DXZ1+, DYZ3++),+mar2.ish der(Y)(DYZ3x1)