Table 1 Summary of supernumerary marker chromosomes
Patient 1 | Karyotype | 46,XY (lymphocytes) 47,XY,+mar [8]/46,XY [29] (fibroblasts) |
|---|---|---|
|  | Array result | arr cgh 3q22.3q29(RP11-306L14→RP11-159K3)x2~3 |
| Â | FISH result | ish der(3)(q22.3qter)(wcp3+,D3Z1-,RP11-184L10-,RP11-976K13++,RP11-702G16++,qter++) |
|  | SMC configuration | inv dup(3) (qter→q26→neo→q26→q22.3::q22.3→qter) |
Patient 2 | Karyotype | 48,XY,+mar1,+mar2 |
|  | Array result | arr cgh 13q12.11(RP11-301J16,RP11-408E5,RP11-385E5)x3,13q33.3q34(RP11-54H7→RP11-569D9)x3 |
| Â | FISH result | ish der(13)(p12qter)(NOR+,D13Z1/D21Z1+,RP11-347L8+,RP11-408E5+,RP11-63L17+) |
|  | SMC configuration | 13qter→q33.3::p12→q12.12: |
Patient 3 | Karyotype | 47,XX,+mar |
|  | Array result | arr cgh 22q11.1q11.21(RP11-701M12→CTD-2593O4)x3,22q13.31q13.33(RP11-281J5→GS1-99K24)x3 |
| Â | FISH result | ish der(22)(q11.1qter)(RP11-1037C4+,CTD-2593O4+,RP11-676E13+) |
|  | SMC configuration | 22pter→q11.21::q13.31→qter |
Patient 4 | Karyotype | 50,XX,+mar1,+mar2,+mar3,+mar4 |
|  | Array result | arr cgh 1p12(RP11-828N6→RP4-794L19)x3,4q12(RP11-39D6→RP11-231C18)x3,7p11.1(RP11-1324A7)x3,11q11q12.1(RP11-176J24→RP11-624G17)x3 |
|  | FISH result | ish der(X)(p11.1q11.1)(DXZ1+),der(1)(p12)(RP11-527D19+),der(7)(p11.1)(RP11-1324A7+),der(11)r(4;11)(::11q11→11q12.1::4q12::) (D4Z1-,RP11-601I15+,wcp11+,D11Z1+) |
|  | SMC configuration | mar1 = der(11)r(4;11)(::11q11→11q12.1::4q12::) mar2 = der(7)(:p11.1:) mar3 = der(1)(:p12:) mar4 = der(X)(:p11.1q11.1:) |