| Karyotype and FISH resultsa | ||||
---|---|---|---|---|---|
 | Peripheral blood lymphocytes | Nuclei extracted from synovial tissueb | Collagenase digest | Synovial fibroblasts | |
Patient | Â | Â | Â | P-1 | P-4 |
ES43 | 46,XX | n.a. | n.a. | 46,XX | n.a. |
ES51 | 46,XX | n.a. | n.a. | n.a. | |
ES79 | 46,XY | n.a. | n.a. | 46,XY | n.a. |
L07 | 46,XY | n.a. | n.a. | 46,XY | n.a. |
L12 | 46,XY | n.a. | n.a. | 46,XY | n.a. |
VS01 | 46,XY | n.a. | n.a. | 46,XY | n.a. |
AA5 | n.a. | n.a. | n.a. | n.a. | n.a. |
 |  |  |  | FISH:+6 [23%];+7 [19%];+8 [17%]; +9 [18%];incl. polyploid [11%] |  |
EB1 | 46,XY | n.a. | n.a. | 46,XY | n.a. |
EB2 | 46,XX | n.a. | n.a. | 46,XX | n.a. |
 |  |  |  |  | FISH:+6 [16%];+7 [31%];+8 [22%]; +9 [20%];incl. polyploid [14%] |
EB4 | 46,XX | n.a. | n.a. | n.a. | 46,XX |
 |  |  |  |  | FISH:+7 [33%];+8 [12%]; -9 [15%];+18 [9%];-18 [11%]; incl. polyploid [4%] |
EB5 | 46,XY | n.a. | n.a. | 46,XY,del(15)(q22),-21,+mar [cp3]/46,XY[2] | 46,XY (Passage 6) |
 |  |  |  | FISH:+6 [5%];+7 [11%];-8 [8%]; +9 [6%];incl. polyploid [2%] | FISH: +7 [6%];+8 [10%];+9 [6%]; incl. polyploid [4%] |
EB6 | 46,XX | Â | n.a. | 47,XX,+76;46,XX[6] | n.a. |
 |  | FISH:+6 [7%];+7 [12%]; +8 [2%];-8 [0%];-18 [8%]; incl. polyploid [1%] |  | FISH:+6 [3%];+7 [40%];+8 [5%]; -8 [8%];-18 [9%] | FISH:+6 [13%];+7 [58%];+8 [8%]; -8 [4%];-18 [84%]; incl. polyploid [2%] |
EB7 | n.a. | Â | n.a. | 46,XY (1/12 metaphases 45,X,-Y | 46,XY (1/10 metaphases 45,X,-Y,+7?) |
 |  | FISH:+6 [6%];+7 [3%]; -18 [9%];+/-Y [n.a.]; incl. polyploid [1%] |  | FISH:+6 [n.a.];+7 [5%];-18 [8%]; -Y [5%];+Y [4%]; incl. polyploid [2%] | FISH: :+6 [n.a.];+7 [4%];-18 [n.a.]; -Y [30%];+Y [0%] |
EB20 | 46,XY | Â | 46,XY | 46,XY | n.a. |
 | FISH: normal | FISH:+7 [2%];+12 [5%] | FISH:+7 [4%]; +12 [5%] | FISH:+7 [9%];+12 [14%]; incl. polyploid [1%] |  |
EB23 | 46,XX | n.a. | 46,XX | 46,XX | 46,XX |
 | FISH: normal |  | FISH:+7 [4%]; +9 [3%];+18 [1%] | FISH:+7 [9%];+9 [5%];+18 [2%] | FISH:+7 [13%];+9 [11%];+18 [7%] |
EB25 | 46,XX | Â | n.a. | 46,XX | n.a. |
 | FISH: normal | FISH:+8 [5%] |  | FISH: normal |  |
EB26 | 46,XY | Â | 46,XY | 46,XY | 47,XY,+74/46,XY[4] |
 | FISH: normal | FISH:+6 [2%];+7 [8%]; +8 [n.a.];+9 [3%] | FISH:+6 [0%]; +7 [12%];+8 [3%]; +9 [0%] | FISH:+6 [3%];+7 [14%];+8 [5%]; +9 [2%];incl. polyploid [2%] | FISH:+6 [10%];+7 [9%];+8 [n.a.]; +9 [9%];incl. polyploid [1%] |
EB27 | 46,XX | Â | n.a. | 47,XX,+7[2] | n.a. |
 | FISH: normal | FISH:+7 [0%]; +8 [8%];+18 [7%] | FISH:+7 [7%]; +8 [n.a.];+18 [n.a.] | FISH:+7 [13%];+8 [n.a.];+18 [n.a.] incl. polyploid [2%] | FISH:+7 [20%];+8 [n.a.];+18 [n.a.] incl. polyploid [4%] |
EB28 | 46,XY | Â | n.a. | n.a. | n.a. |
 | FISH: normal | FISH:+4 [8%];+7 [12%] |  |  |  |
EB30 | 46,XX | n.a. | n.a. | n.a. | n.a. |
 | FISH: normal |  |  |  |  |
EB31 | 46,XX,16qh+ | n.a. | 46,XX,16qh+ | 46,XX,16qh+ | n.a. |
 | FISH: normal |  | FISH:+4 [1%]; +7 [4%] | FISH:+4 [5%];+7 [5%]; incl. polyploid [5%] |  |