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

From: Chromosome aberrations in a large series of spontaneous miscarriages in the German population and review of the literature

Type of chromosome aberration by CA (and QF-PCR) Number of patients
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%)