Skip to main content

Table 2 Results discrepancies of karyotyping and FISH

From: Diversity of sex chromosome abnormalities in a cohort of 95 Indonesian patients with monosomy X

No

Karyotyping

FISH

Number of cases

1.

46,XX

nuc ish (DXZ1x1)[≤ 30]//(DXZ1x2)[≥ 270]

5

2.

46,XX

nuc ish (DXZ1x1)[29]//(DXZ1x2)[266]//(DXZ1x3)[5]

1

3.

46,XY

nuc ish (DXZ1x1)[12]//(DXZ1,DYZ3)x1[288]

1

4.

mos 45,X[1]/46,X,del(X)(p10)[39]

nuc ish (DXZ1x1)[60]//(DXZ1x2)[240]

1

5.

mos 45,X[31]/46,X,i(X)(q10)

nuc ish (DXZ1x1)[240]//(DXZ1x2)[60]

1

6.

mos 45,X [7]/46,X,r(X)(p?q?)[9]

nuc ish (DXZ1x1)[167]//(DXZ1x2)[133]

1

7.

mos 45,X[9]/46,X,idic(X)(q23)[31]

nuc ish (DXZ1x3)[200]

1

8.

mos 45,X[4]/46,XY [26]

nuc ish (DXZ1x1)[18]//(DXZ1,DYZ3)x1[258]//(DXZ1x1,DYZ3x2)[24]*

1

9.

mos 45,X[28]/46,XY[12]

nuc ish (DXZ1x1)[224]//(DXZ1,DYZ3)x1[49]//(DXZ1x1,DYZ3x2)[27]*

1

10.

mos 45,X[30]/47,XY,+mar[10]

nuc ish (DXZ1x1)[252]//(DXZ1,DYZ3)x1[48]

1

11.

mos 45,X[20]/46,X,r(Y)(p?q?)[20]

nuc ish (DXZ1x1)[135]//(DXZ1,DYZ3)x1[165]

1

12.

mos 45,X[23]/46,X,+mar[17]

nuc ish (DXZ1x1)[178]//(DXZ1x2)[122]

1

13.

mos 45,X[25]/46,X,del(Y)(q11.23)[15]

nuc ish (DXZ1x1)[102]//(DXZ1,DYZ3)x1[198]

1

14.

mos 45,X[1]/46,X,idic(Y)(p11.32)[17]

nuc ish (DXZ1x1)[168]//(DXZ1x2)[14]//(DXZ1,DYZ3)x1[30]//(DXZ1x2,DYZ3x1)[7]//(DXZ1x1,DYZ3x2)[76]//(DXZ1x2,DYZ3x2)[4]//(DXZ1x1,DYZ3x3)[1]

1

15.

mos 45,X[2]/46,X,idic(Y)(p11.32)[28]

nuc ish(DXZ1x1)[200]

1

16.

mos 45,X[4]/46,X,del(Y)(q10)[34]/46,X,del(Y)(p10)[1]/47,X,chrb(Y)(q10)[1]

nuc ish(DXZ1x1)[72]//(DXZ1,DYZ3)x1[228]

1

17.

mos 45,X,chtb(3)(p14.2)[1]/47,XY,+2[1]/47,XY,+21[1]/45,XY,-18[1]/45,XY,-20[1]/46,XY,chtb(3)(p14.2)[4]/46,XY,chtb(14)(q22)[1]/46,XY[30]

nuc ish(DXZ1,DYZ3)x1,(D18Z1x2)[282]//(DXZ1,DYZ3)x1,(D18Z1x1)[18]

and

nuc ish(DXZ1,DYZ3)x1,(RB1x2)[294]//DXZ1,DYZ3)x1,(RB1x1)[6]

1

18.

mos 45,X[13]/47,XXY[27]

nuc ish(DXZ1x1)[75]//(DXZ1,DYZ3)x1[66]//(DXZ1,DYZ3x2)[159]*

1

  1. FISH: Fluorescence In Situ Hybridization