Patients | 55 | 248 | 208 | 45 | 71 | 111 | 27 | 318 | 305 | |
MLPA | ||||||||||
Centromeric probes | ||||||||||
CRLF3 | – | – | – | – | – | – | – | – | – | |
FLJ12735 | – | – | – | – | – | – | – | – | – | |
CENTA2 | – | – | – | – | – | – | – | – | – | |
RNF135 | – | – | – | – | – | – | – | – | – | |
Intragenic probes | ||||||||||
Exon 1 | – | – | – | – | – | – | – | – | – | |
Exon 12B | – | – | – | – | – | – | – | – | – | |
Exon 23–2 | – | – | – | – | – | – | – | – | – | |
Exon 40 | – | – | – | – | – | – | – | – | – | |
Exon 48 | – | – | – | – | – | – | – | – | – | |
Telomeric probes | ||||||||||
HCA66 | – | – | – | – | – | – | – | – | – | |
JJAZ1 | + | – | – | + | – | – | – | + | – | |
KIAA0563–related gene | + | – | – | + | – | – | – | + | – | |
FISH | ||||||||||
RP11–353O18 | Del | Del | Del | Del | Del | Del | Del | Del | Del | |
RP11–17I16 | Del | Del | Del | Del | Del | Del | Del | Del | Del | |
CTD–2283L18 | Non-Del | Del | Del | Non-Del | Del | Del | Del | Non-Del | Del | |
CTD–3060L5 | Non-Del | Del | Del | Non-Del | Del | Del | Del | Non-Del | Del | |
Deletion type | II | I | I | II | I | I | I | II | I |
+, MLPA probes showing peak area values between 0.7 and 1.3; −, MLPA probes showing peak area values <0.7. Del, deleted; Non-del, non-deleted.