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. 2019 Dec 27;12:55. doi: 10.1186/s13039-019-0465-x

Table 2.

Summary of patients prenatally diagnosed with isodicentric Y chromosomes

Patient Tissue Karyotype Clinical outcome Sex Reference
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]

AF Amniotic fluid, CB Cord blood, PB Peripheral blood, M Male, F Female, A Ambiguous