Table 2 Patient specific rearrangements detected by aCGH
Sample | Chr | Band | Start | End | Alteration | Confirmed | Origin | Genes (within the BAC clone) | Genes (Agilent Probe) |
|---|---|---|---|---|---|---|---|---|---|
KS2 | 2 | 2q36.3-2q37.3 | 226400869 (225995608) | 237338113 | Gain | 1,2 | de novo (Maternal) | COL4A4, COL4A3, SP140, LOC93349, SP100, INPPSD, ATG1GL1, SAG, DGKD, USP40, UGT1A8, UGT1A10, UGT1A9, UGT1A7, UGT1A6, DKFZp762E1312, TRPM8, SH3BP4 CENTG2 IQCA, CHKOR1 | |
2 | 2q37.3 | 237607249 | 242166437 (telomere) | Loss | 1,2 | de novo (Maternal) | COPS8, UBE2F, SCLY, LOC339768 TRAF31P1, ASB1 NDUFA10, ORGB2, ORGB3, MYEOV2, OTOS SEPT2, FARP2, STK25 | ||
KS6 | 14 | 14q23.1 | 57693088 (57541570) | 58084505 (58177255) | GAIN | 3,4 | Paternally inherited | ACTR10, PSMA3, ARID4A, UNQ9438, TIMM9, KIAA0586 | |
54849232 | Maternally | ||||||||
KS7 | 5 | 5q11.2 | 54497449 (54489157) | (54849173) | GAIN | 3,4 | inherited | FLJ37927, UNG2, DHX29, SKIV2L2 | UNG2; SKIV2L2; PPAP2A |
KS9 | 17* | 17q12 | 30619177 (30610975) | 30792737 (30797213) | LOSS | 3,4 | Maternally inherited | FLJ34922 | SLFN11, SLFN12 |
2 | 2q37.2-2q37.3 | 235511580 (235053304) | 242166437 (telomere) | Loss | 1,2,3 | de novo (Paternal) | SH3BP4 CENTG2 IQCA, CHKOR1, COPS8, UBE2F, SCLY, LOC339768 TRAF31P1, ASB1 NDUFA10, ORGB2, ORGB3, MYEOV2, OTOS SEPT2, FARP2, STK25 | ||
KS14 | 16* | 16p11.2 | 29546566 (29532360) | 30106101 (30271412) | Loss | 2,3,4 | de novo (Maternal) | BOLA2, SPN, C16orf54, KIF22, MAZ TAOK2, HIRIP3, FLJ90652, DOC2A, DKFZP434I2117, ALDOA, PPP4C | SPN, QPRT, C16orf54, KIF22, MAZ, TAOK2, HIRIP3, FLJ90652, DOC2A, DKFZP434I2117, ALDOA, PPP4C, TBX6, YPEL3, GDPD3, MAPK3, CORO1A |