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%) |