Table 1
Characterisation of the deletion in the proband by FISH analysis
| Probe used for FISH analysis(GenBank accession number) | Probe specific STS marker(s) | Presence (+)/absence (−) of FISH signal on the deleted chromosome 22 |
|---|---|---|
| BCR, Breakpoint cluster region; NF2, neurofibromatosis type 2 gene. | ||
| Oncor CATCH22 probe | D22S75 | + |
| Oncor M-bcr probe | (BCR) | + |
| 322B1 (z84718) | D22S449, WI-7416 | + |
| CTA-221G9 (z99916) | D22S1019E | + |
| RP3-462D8 (al022332) | B14425 | + |
| CTA-246H3 (al022324) | D22S1040, D22S925, D22S926 | + |
| CTA-390C10 (al008721) | WI-30096, D22S419 | + |
| CTA-407F11 (al022329) | D22S258, D22S315, D22S650 | Reduced |
| CTA-125H2 (z98949) | D22S429, D22S1148 | − |
| bk256D12 (ac005529) | D22S929 (NF2) | − |
| CTA-415G2 (z83846) | D22S411E | − |
| CTA-282F2 (al008630) | D22S11720 | − |
| CTA-566G5 (al023577) | AQ512838 | − |
| RP1-75E8 (z76736) | AQ516245 | − |
| LL22NCO3-20A6 (z69713) | SHGC-143268 | − |
| LL22NCO3-13E1 (z54073) | R60425, T05310 | − |
| LL22NCO3-32F9 (z73429) | D22S1162 | + |
| LL22NCO1-90C2 (z82182) | B32366 | + |
| CTA-221H1 (al008717) | D22S684 | + |
| YAC 948b02 | WI-356 | + |
| YAC 826d12 | WI-88, D22S1141 | + |
