Table 1 Karyotypes and FISH findings in different tissues
From: Pallister-Killian syndrome: clinical, cytogenetic and molecular findings in 15 cases
Case no | Karyotypes on cultured lymphocytes | Karyotype on fibroblast | % | I-FISH results on buccal swap sample | % | Parental origin |
|---|---|---|---|---|---|---|
1 | 46,XY | mos 46,XY/47,XY,+i(12)(p10)[33/17] | 34 | – | P | |
2 | 46,XX | mos 46,XX/47,XX,+i(12)(p10)[18/2] | 10 | – | M | |
3 | 46,XX | mos 46,XX/47,XX,+i(12)(p10)[100/11] | 9.9 | .ish (D12Z2x2/D12Z2x3)[50/13] | 20.6 | |
4 | 46,XX | mos 46,XX/47,XX,+i(12)(p10)[28/12] | 30 | – | ||
5 | 46,XY | mos 46,XY/47,XY,+i(12)(p10)[65/35] | 35 | – | M | |
6 | 46,XX | mos 46,XX/47,XX,+i(12)(p10)[24/9] | 27.3 | – | M | |
7 | 46,XX | mos 46,XX/47,XX,+i(12)(p10)[15/5] | 25 | – | M | |
8 | 46,XX | mos 46,XX/47,XX,+i(12)(p10)[31/4] | 11.4 | .ish (D12Z2x2/D12Z2x3)[64/41] | 39 | |
9 | 46,XY | mos 46,XY/47,XY,+i(12)(p10)[21/9] | 30 | .ish (D12Z2x2/D12Z2x3)[5/13] | 72 | |
10 | 46,XY | mos 46,XY/47,XY,+i(12)(p10)[20/20] | 50 | .ish (D12Z2x2/D12Z2x3)[25/30] | 54.5 | |
11 | – | 47,XY,+i(12)(p10) | 100 | .ish (D12Z2x2/D12Z2x3)[40/60] | 60 | M |
12 | 46,XY | mos 46,XY/47,XY,+i(12)(p10)[25/5] | 16.6 | .ish (D12Z2x2/D12Z2x3)[7/25] | 78.1 | M |
13 | 47,XY,+mar.ish(14/22)(q10;q10)mat | 48,XY,+mar.ish(14/22)(q10;q10) mat, +i(12(p10) | 100 | – | ||
14 | – | mos 46,XY/47,XY,+i(12)(p10)[45/40] | 47 | .ish (D12Z2x2/D12Z2x3)[71/68] (F) .ish (D12Z2x2/D12Z2x3)[50/53] (BS) | 49 51.4 | |
15 | 46,XY | – | mos.ish (D12Z2x2/D12Z2x3)[180/20] | 10 |