Table 2 Summary of patients prenatally diagnosed with isodicentric Y chromosomes

1

AF

47,X,idic(Y)(q11.21),inv. dup(Y)

Phenotypically normal

M

[3]

PB

2

AF

46,X,idic(Y)(q11.23)

Phenotypically normal

M

[23]

3

AF

46,X,del(Y)(q12)/45,X/46,X,idic(Y)(q11.22)

Unknown

M

[17]

4

AF

46,X,idic(Y)(q11.23) [41]/45,X [22]

Phenotypically normal

M

[5]

5

AF

45,X [54]/46,X,idic(Y)(p11.3) [8]/46,XY [3]

Defect in the interventricular septum of the heart

M

[18]

Antenatal CB

45,X [24]/46,X,idic(Y)(p11.3) [26]

Placental villi

45,X[89]/46,X,idic(Y)(p11.3) [11]

Postnatal CB

45,X[87]/46,X,idic(Y)(p11.3) [10]/46,XY [3]

Gonad

45,X [45]/46,X,idic(Y)(p11.3) [55]

6

AF

45,X

Termination

F

[34]

CB

45,X(20%)/46,X,idic(Y)(p11)(80%)

7

AF

45,X [27]/46,X,idic(Y)(q11.22) [14]

Termination

M

[19]

8

PB

45,X [23]/46,X,idic(Y) [8]

Complex heart lesion, generalized oedema, died 19 days after birth

A

[35]

Right Gonad

45,X [47]/46,X,idic(Y) [3]

Left Gonad

45,X [44]/46,X,idic(Y) [6]

AF

45,X

9

AF

45,X [28]/46,X,idic(Y)(q11.2) [2]

Phenotypically normal

F

[36]

CB

46,X,idic(Y)(q11.2) [31]/45,X [17]/47,X,idic(Y)× 2 [2]

10

AF

46,X,idic(Y) [3]/45,X [2]/46,XY [24]

Phenotypically normal

M

[25]

11

AF

45,X [2]/46,XY [13]

Phenotypically normal

M

[25]

PB

46,X,idic(Y)(q10) [5]/46,XY[95]

12

Chorionic villi

45,X [11]/46,XY [9]

Phenotypically normal

M

[25]

AF

46,X,idic(Y)(q11) [4]/45,X [1]/46,XY [26]

13

AF

46,X,idic(Y)(q10) [26]/45,X [3]/47,X,i(Y),+i(Y) [2]

Phenotypically normal

M

[25]

PB

46,X,idic(Y)(q11)[95]/45,X [5]

14

AF

46,X,idic(Y)(q11.2) [17]

Phenotypically normal

M

[25]

PB

46,X,idic(Y)(q11.2) [50]

Chorion

46,X,idic(Y)(q11.2) [27]/45,X [3]

15

AF

45,X/46,X,idic(Y)(q11.2)/47,X,idic(Y)(q11.2),+idic(Y)(q11.2)

Phenotypically normal

M

[25]

PB

46,X,idic(Y)(q11.2) [18]/45,X [14]

16

AF

46,idic(Y)(q11.2) [13]/45,X [6]

Phenotypically normal

M

[25]

PB

46,X,idic(Y)(q11.2) [8]/45,X [2]

17

AF

46,X,idic(Y)(q11.2) [22]/45,X [7]

Normal genitalia at termination

M

[25]

Chorion

46,X,idic(Y)(q11.1) [8]

18

AF

46,X,idic(Y) [22]/45,X [5]

Phenotypically normal

M

[25]

19

AF

45,X [12]/46,XY [17]

Phenotypically normal

M

[25]

Amnion

45,X [2]/46,XY [11]

PB

46,X,idic(Y)(q11.2) [17]/45,X [3]/46,X,?r(Y) [2]

20

AF

45,X [10]

Normal genitalia at termination

M

[25]

Villi, amnion

45,X/46,X,idic(Y)(q11.2)

21

AF

45,X [10]

Ambiguous genitalia, short stature

A

[25]

PB

45,X/46,X,idic(Y)(q11.2)

Skin

45,X/46,X,idic(Y)(q11.2)/46,X,?r(Y)

22

AF

45,X, [14]/46,X,psu dic(Y)(q12) [5]

Phenotypically normal

M

[27]

23

AF

45,X [3]/46,X,idic(Y)(p11) [11]

Phenotypically normal

M

[27]

24

AF

45,X [2]/46,X,idic(Yp) [14]

Normal genitalia at 9 years, coarctation of the aorta

M

[27]

25

PB

46,X,idic(Y)(q11.21)

Mild language delay

M

[7]

AF

46,X,idic(Y)(q11.21)

26

AF

45,X [14]/46,X,idic(Y)(q11.2)[86]

Unilateral renal agenesis, normal genitalia

M

[37]

27

AF

45,X [15]/46,X,idic(Yp) [6]/46,X,?del(Y)(q12) [2]/47,X,?del(Y)(q12) +?del(Y)(q12) [2]

Termination

–

[38]

Foetal heart

45,X [12]/46,X,idic(Yp) [9]/46,X,?del(Y)(q12) [4]

Foetal kidney

45,X [19]/46,X,idic(Yp) [3]/46,X,?del(Y)(q12) [2]/47,X,?del(Y)(q12) +?del(Y)(q12) [1]

28

AF

45,X/46,X,idic(Y)

Phenotypically normal

M

[39]

29

AF

45,X/46,X,idic(Y)

Phenotypically normal

M

[39]

30

AF

45,X[125]/46,X,dic(Y)(q11) [5]

Abdominal wall defect, mild chordee of the penis

M

[40]

PB

45,X [14]/46,X,dic(Y)(q11) [16]

Skin

45,X [15]/46,X,dic(Y)(q11) [15]

Placenta A

45,X [4]/46,X,dic(Y)(q11) [30]

Placenta B

45,X [20]/46,X,dic(Y)(q11) [10]

Placenta C

45,X [12]/46,X,dic(Y)(q11) [18]

31

AF

45,X [8]/46,X,idic(Y)(p11.32) [2]

Phenotypically normal

M

[41]

PB

45,X [27]/46,X,idic(Y) [1]

32

PB

45,X/46,X,idic(Y)(q11.2)

Unknown

F

[42]