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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  
  1. F Fibroblast, BS Buccal swap, M Maternal, P Paternal