Table 1.

Summary of the FISH results obtained for the 2 novel t(4;12)(q11-q12;p13) cases

Probes(Localization)Case 5Case 6
4q11 CHIC2   
 200D9 Exon 1 der(12) split or der(12)* 
 238H24 Exons 1-6 split der(4)  
 1146G14 Exons 4-6 der(4) der(4) 
12p13 ETV6   
 434C1 Telomeric to exon 1/exon 1  der(4)  
 209J1 Exon 1/intron 1  der(12) 
 179A6 Exon 1/intron 1 der(4)  
 50F4 Intron 1/exon 2 der(4)  
 TEL11 Intron 2/exon 3 split  
 54D5 Exons 5-8 der(12)  
 148B6 Exon 8 der(12) der(12) 
Probes(Localization)Case 5Case 6
4q11 CHIC2   
 200D9 Exon 1 der(12) split or der(12)* 
 238H24 Exons 1-6 split der(4)  
 1146G14 Exons 4-6 der(4) der(4) 
12p13 ETV6   
 434C1 Telomeric to exon 1/exon 1  der(4)  
 209J1 Exon 1/intron 1  der(12) 
 179A6 Exon 1/intron 1 der(4)  
 50F4 Intron 1/exon 2 der(4)  
 TEL11 Intron 2/exon 3 split  
 54D5 Exons 5-8 der(12)  
 148B6 Exon 8 der(12) der(12) 
*

Only part of the metaphases showed split signals. This is indicative for a breakpoint close to the centromeric side of the region covered by PAC 200D9.

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