Table 1 Cases with unique complex sSMC reported in the literature.
Case | Case acc. to [10] | GTG-karyotype | sSMC acc. to FISH | abnormal clinical outcome |
|---|---|---|---|---|
de novo | ||||
1 | 07-U-1 | 47,XX,+mar [100%] | der(7)t(X;5;7)(p22.1;q35;p13q21) | + |
2 | 13/21-U27 | 47,XY,+mar [100%] | der(13 or 21)t(13 or 21;18)(13 or 21pter->13 or 21q11::18p11.21->18pter) | + |
3 | 13/21-U-8 | 47,XX,+mar [100%] | der(13 or 21)t(13 or 21;18)(q11;p11.2) | ? |
4 | 14-O-q11.2/1-1 15-O-q11.1/4-1 | 47,XY,+mar [100%] | dic(14;15)(14pter->14q11.2::15q11.1->15pter) | - |
5 | 15-CW-3 | 47,XX,+mar [100%] | der(15)t(15;?)(q24;?) | + |
6 | 15-U-6 22-U-4 | 47,XY,+mar [100%] | dic(15;22)(q11.1;q22.1) | ? |
7 | 15-U-10 | 47,XY,+mar [100%] | der(15)t(Y;15)(q12;q22) | ? |
8 | 17-W-p13.3/1-1 | 47,XYqs,+mar [100%] | der(17)t(17;acro)(q11;p11.2) | + |
9 | 22-U-18 | 47,XY,+mar [100%] | der(22)t(12;22)(p12;q11.2-12) | + |
10* | 22-Wces-5-101 | 47,XX,+mar [100%] | dic(13 or 21;22)(13 or 21pter->13 or21q11::22q11.1~11.2->22q11.21~11.22::22q11.21~11.22->22pter) | + |
Unclear origin | ||||
11 | 15-CO-1 0Y-CO-2 | 47,XX,+mar [100%] | dic(Y;15) presence of 2 alpha-cepY and cep15 signals; PCR prove of Yq11 euchromatic region (AZF1); absence of SRY region | - |
12 | 21-O-q11.1/1-1 22-O-q11.1/3-1 | 46,tROB(21;22),+mar [100%] | der(21)t(21;22)(q11.1;p11.2) | - |
sSMC from mother | ||||
13* | 18-U-10 | 47,XY,+mar [100%] | der(18)t(8;18)(8p23.2~23.1;18q11.1) | + |
14 | 13/21-O-q10/4-1 14-O-q10/2-1 | 47,XX,+mar [87%]/46,XX [13%] | dic(13 or 21;14)(q10;q10) | - |
15 | 13/21-O-q10/5-1 15-O-q10/4-1 | 47,XX,+mar [100%] | dic(13 or 21;15)(q10;q10) | - |
16* | 13/21-U-28 | 47,XX,+mar [100%] | der(13 or 21)t(13 or 21;18)(13 or 21pter->13 or 21q11::18p11.21->18pter) | + |
Parental balanced translocation | ||||
17 | 12-U-6 | 47,+mar [100%] | der(12)t(4;12)(p16;q11) mat | + |
18 | 13-U-8 | 47,XY,+mar [100%] | der(13)t(8;13)(p23.2;q12.2) mat | + |
19 | 15-O-q11.2/5-1 | 47,XY,+mar [100%] | der(15)t(9;15)(p24;q11.2) mat | - |
20 | 15-U-15 | 47,XX,+mar [100%] | der(15)t(15;16)(q13;p13.2) mat | + |
21 | 18-CW-2 | 47,XX,+mar [100%] | der(18)t(18;21 or 22) mat der(18)t(18;21 or 22) pat | + |
22 | 22-U-11 | 47,XY,+mar [100%] | der(22)t(8;22)(q24.1;q11.2) pat | + |