Table 2.
Karyotype and FISH resultsa | |||||
Peripheral | Nuclei | Synovial fibroblasts | |||
blood | extracted from | Collagenase | |||
Patient | lymphocytes | synovial tissueb | digest | P-1 | P-4 |
ES37 | 46,XY | n.a. | n.a. | 47,XY,+7[1]/46,XY [49] | 47,XY,+7[2]/46, XY [48] |
ES52 | 46,XX | n.a. | n.a. | 46,XX | n.a. |
ES53 | 46,XY | n.a. | n.a. | 46,XY | n.a. |
ES54 | 46,XX | n.a. | n.a. | 46,XX | n.a. |
L09 | 46,XX | n.a. | n.a. | 47,XX,+7[12]/48,XX,+7,+8[5];46,XX[33] | n.a. |
L11 | 46,XX | n.a. | n.a. | 46,XX | n.a. |
EB8 | 46,XY | n.a. | 46,XY | n.a. | |
FISH:normal | FISH:+7 [4%];+8 [4%]; +9 [3%];-18 [7%]; incl. polyploid [1%] | FISH:+7 [17%];+8 [7%];+9 [9%]; -18 [19%] | |||
EB9 | 46,XX | n.a. | n.a. | 47,XX,+7[2] | n.a. |
FISH:normal | FISH:+7 [52%]; -9 [4%] | FISH:+7 [n.a.]; -9 [25%] | |||
EB10 | 46,XX | n.a. | n.a. | 46,XX | n.a. |
FISH:normal | FISH:+6 [6%];+7 [20%];+8 [11%];-8 [2%];-18 [8%] | FISH:+7 [32%];-8 [10%];-18 [18%] | |||
EB11 | 46,XX | n.a. | 47,XX,+7[3]/46,XX[7] | 47,XX,+7[3]/46,XX[6] | |
FISH:normal | FISH:+4 [3%];+7 [8%];+18 [0%] | FISH:+4 [3%]; +7 [19%];+18 [2%] | FISH:+4 [7%];+7 [15%];+18 [8%]; incl. polyploid [7%] | ||
EB12 | 45,X[10]/46,XX[17] | n.a. | 47,XX,+7,+4 or +5[3]/46,XX[4] | 46,XX | |
FISH:-X [32%] | FISH:+4 [0%];+7 [12%];+8 [12%];+9 [4%] | FISH:+4 [4%];+7 [42%];+8 [0%];+9 [11%] | FISH:+4 [2%];+7 [36%];+8 [1%];+9 [6%] | ||
EB13 | 46,XY | n.a. | n.a. | 46,XY | 46,XY |
FISH:normal | FISH:+7 [15%];-9 [3%];+12 [0%] | FISH:+7 [37%];-9 [8%];+12 [11%] | FISH:+4 [8%];+7 [16%]; +9 [5%];-9 [25%];+12 [6%] | ||
EB14 | 46,XX | n.a. | 47,XX,+7[3]/46,XX[7] | 46,XX,+7,+8,-15,-21[1]/48,XX,+7,+9[1]/47,XX,+7[1]/48,X,+7,+8,+9[1]/46,X,-X,+7,-17,+mar[1]/46,XX,t(5;11)(q23;q12)[1]/48,X,-X, +5,+7,+8[1]/46,XX[1] | |
FISH:normal | FISH:+7 [14%];+8 [0%];+X [4%] | FISH:+7 [10%];+8 [0%];+X [6%] | FISH:+7 [36%];+8 [2%];+X [0%] | FISH:+7 [34%];+8 [8%];+X [6%] | |
EB15 | 46,XX | n.a. | n.a. | 46,XX | n.a. |
FISH:normal | FISH:+6 [7%];+7 [10%];+8 [7%];+9 [10%];incl. polyploid [7%] | FISH:+6 [12%];+7 [16%];+8 [7%];+9 [10%];incl. polyploid [4%] | |||
EB16 | 46,XX | n.a. | n.a. | n.a. | n.a. |
FISH:normal | FISH:+6 [5%]; +7 [18%];+8 [0%]; -X [18%] | FISH:+6 [26%];+7 [26%];+8 [35%];+X [17%];incl. polyploid [17%] | |||
EB17 | 46,XX | n.a. | 46,XX,chrb(1)(q12)[2]/46,XX[4] | 46,XX | n.a. |
FISH:normal | FISH:+4 [17%];+6 [3%];+12 [1%] | FISH:+4 [16%];+6 [6%];+12 [5%];incl. polyploid [1%] | |||
EB18 | 46,XX | n.a. | 46,XX | 46,XX | n.a. |
FISH:normal | FISH:+7 [1%];+8 [0%];+9 [2%] | FISH:+7 [5%];+8 [4%];+9 [1%] | FISH: +7 [18%];+8 [18%];+9 [18%];incl. polyploid [3%] | ||
EB19 | 46,XX | 46,XX | 47,XX,+7[2]/46,XX[7] | 47,XX,+7[2]/46,XX[6] | |
FISH:normal | FISH:+7 [18%];+8[2%];+9 [4%];+12 [4%];incl. polyploid [2%] | FISH:+7 [14%];+8 [0%];+9 [0%];+12 [0%] | FISH:+7 [10%];+8 [0%];+9 [4%];+12 [7%] | FISH:+7 [26%];+8 [18%];+9 [7%];+12 [8%];incl. polyploid [7%] | |
EB21 | 46,XX | n.a. | 46,XX | 46,XX | n.a. |
FISH:normal | FISH:+4 [17%];+6 [7%];+7 [11%];+9 [17%]; incl. polyploid [5%] | FISH:+4 [3%];+6 [3%];+7 [5%];+9 [3%]; incl. polyploid [1%] | FISH:+4 [3%];+6 [4%];+7 [11%];+9 [3%]; incl. polyploid [3%] | ||
EB22 | 46,XY | n.a. | n.a. | 46,XY | n.a. |
FISH:normal | FISH:+4 [4%]; +7 [7%];+9 [3%]; incl. polyploid [1%] | FISH:+4 [2%];+7 [6%];+9 [1%]; incl. polyploid [1%] | FISH:+4 [8%];+7 [8%]; +9 [7%] | ||
EB24 | 46,XX | n.a. | 46,XX | n.a. | |
FISH:normal | FISH:+4 [0%];+6 [3%];+7 [7%];+9 [3%] | FISH:+4 [8%];+6 [8%];+7 [25%];+9 [8%]; incl. polyploid [7%] | FISH:+4 [9%];+6 [2%];+7 [33%];+9 [3%]; incl. polyploid [2%] | FISH:+4 [2%];+6 [2%];+7 [24%];+9 [3%]; incl. polyploid [2%] | |
EB29 | 46,XX | n.a. | n.a. | n.a. | n.a. |
FISH:normal | |||||
J4 | n.a. | n.a. | 46,XX | 46,XX | |
FISH:+4 [5%];+7 [14%]; incl. polyploid [1%] | FISH:+4 [1%];7 [6%]; incl. polyploid [1%] | ||||
J5 | n.a. | n.a. | n.a. | n.a. | |
FISH:+4 [5%];+7 [13%] |
aSee Table 1. b Only FISH data are available. incl. = including; n.a. = not analyzed (Karyotype and/or FISH); P-1 = passage 1; P-4 = passage 4.