Table 2 Incidence and types of chromosome aberrations in spontaneous miscarriages by cytogenetic analysis (CA) and by quantitative fluorescent polymerase chain reaction (QF-PCR)

Monosomy (n = 21)

45,X

16

Monosomy X (QF-PCR)

1

mos 45,X/46,XX

2

45,XX,-21

1

mos 45,XX,-21/46,XX

1

Trisomy (n = 131)

47,XX,+2

2

mos 47,XY,+2/46,XY

1

mos 47,XX,+3/46,XX

1

47,XX,+4

3

mos 47,XX,+4/46,XX

1

mos 47,XX,+5/46,XX

1

47,XY,+6

1

47,XY,+7

1

47,XX or 47,XY,+8

5

47,XX or 47,XY,+9

5

mos 47,XX,+9/46,XX

2

47,XX or 47,XY,+10

4

47,XX or 47,XY,+13

6

Trisomy 13 (QF-PCR)

2

mos 47,XX,+13/46,XX

1

47,XX or 47,XY,+14

5

mos 47,XX,+14/46,XX

1

47,XX or 47,XY,+15

17

mos 47,XX,+15/46,XX

2

47,XX or 47,XY,+16

22

mos 47,XX,+16/46,XX

3

47,XX or 47,XY,+18

8

Trisomy 18 (QF-PCR)

2

47,XX or 47,XY,+20

2

47,XX or 47,XY,+21

10

Trisomy 21 (QF-PCR)

2

47,XX or 47,XY,+22

20

mos 47,XX,+22/46,XX

1

Triploidy (n = 30)

69,XXX or 69,XXY

29

Triploidy (QF-PCR)

1

Tetraploidy (n = 25)

92,XXXX or 92,XXYY

5

mos 92,XXXX or 92,XXYY/46,XY

20

Structural chromosome aberration (single) (n = 10)

46,X,i(Y)(q10)

1

mos 46,X,i(Y)(p10)/46,XY

1

46,XY,der(1)t(1;15)(p36.1;q22.3)mat

1

mos 46,XX,add(4)(q?31)/46,XX

1

46,XY,add(5)(p15.3)

1

46,XX,add(6)(q21)

1

mos 47,XY,+i(12)(p10)/46,XY

1

46,XX,add(14)(p11.2)

1

mos 46,XX,i(20)(q10)/46,XX

1

mos 47,XY,+mar/46,XY

1

Two chromosome aberrations and more (n = 28)

Multiple aneuploidies (n = 17)

46,X,+21

1

48,XXY,+22

1

48,XX,+2,+22

1

48,XX,+8,+18

1

48,XY,+9,+15

1

48,XY,+12,+20

1

48,XY,+13,+21

1

48,XY,+16,+21

1

48,XX,+16,+22

1

49,XY,+12,+16,+21

1

48,XX,+20,+21

1

68,XXY,-21

1

68,XXX,-22

1

94,XXXY,+7,+7

1

94,XXYY,+17,+17

1

94,XXYY,+20,+20

1

mos 95,XXYY,+2,+21,+21/94,XXYY,+21,+21

1

Structural and/or numerical chromosome aberrations (n = 11)

mos 45,X/47,XX,+mar

1

46,XX,der(2)t(2;3)(q37;p21),der(3)t(3;9)(p21;q13)

1

mos 47,XX,+4/47,XX,der(4)t(4;?)(q12;?)

1

47,XY,t(5;5)(p10;p10),+5

1

mos 46,XY,der(5)t(5;14)(q23;q11.2),+5,-4/45,XY,der(13;14)(p10;q10)/46,XY

1

mos 46,XX,del(8)(p10)/46,XX,i(8)(q10)

1

47,XY,t(9;13)(p22;q14.1),+13

1

46,XX,der(14;15)(q10;q10),+14

1

47,XX,der(15)t(3;15)(p10;q10),+21

1

91,XX,-3,+5,-6,t(8;19)(q22;q13.1)

1

mos 94,XXXX,+mar1x2/47,XX,+mar1/46,XX

1

Chromosome aberrations by CA

237/390, (61%)

Chromosome aberrations by QF-PCR

8

Chromosome aberrations by CA and QF-PCR

245/417, (59%)