Interphase nuclei of control individuals with structurally normal chromosomes 22 showing a double (ds) and a single signal (ss) for probes within the commonly deleted 22q11.2 region and at flanking positions
| Case, gender* | FISH probes† | Percentage of interphase nuclei‡ showing either ds/ss, ds/ds, or ss/ss for individual probes | 2×ds on one chr. 22 and 2×ss on the other chr. 22 for combinations of two probes‡§ | ||
|---|---|---|---|---|---|
| ds/ss | ds/ds | ss/ss | |||
| *M, male; F, female; †The relative location of the probes is as follows: “D22S427”: proximal to the LCRI; LSI DiGeorge/VCFS: within the deleted region, proximal to the breakpoint of the t(11;22); ZNF74: within the commonly deleted region, distal to the breakpoint of the t(11;22); “D22S936”: within the commonly deleted region, proximal to the LCRII8,17; ARSA: distal to the LCRII, 22q13.3; ‡In brackets: total number of interphase nuclei analysed; §Out of the 10 possible combinations of ds and ss for two probes on the two chromosomes 22, only the combination ds/ds on one chromosome 22 and ss/ss on the other chromosome 22 is indicated being the most frequently detected combination in each case. | |||||
| 21, F | “D22S427” | 72% (201) | 7% (201) | 21% (201) | |
| LSI DiGeorge/VCFS | 88% (115) | 2% (115) | 10% (115) | ||
| ZNF74 | 67% (101) | 15% (101) | 18% (101) | ||
| ARSA | 74% (201) | 2% (201) | 24% (201) | ||
| “D22S427” and ZNF74 | 52% (101) | ||||
| “D22S427” and ARSA | 57% (96) | ||||
| LSI DiGeorge/VCFS and ARSA | 61% (100) | ||||
| 22, F | “D22S427” | 67% (303) | 10% (303) | 23% (303) | |
| LSI DiGeorge/VCFS | 89% (115) | 4% (115) | 7% (115) | ||
| ZNF74 | 58% (100) | 7% (100) | 35% (100) | ||
| “D22S936” | 70% (91) | 3% (91) | 27% (91) | ||
| ARSA | 69% (209) | 8% (209) | 23% (209) | ||
| “D22S427” and ZNF74 | 38% (98) | ||||
| “D22S427” and “D22S936” | 64% (91) | ||||
| “D22S427” and ARSA | 46% (106) | ||||
| LSI DiGeorge/VCFS and ARSA | 49% (100) | ||||
| 23, M | LSI DiGeorge/VCFS | 84% (106) | 4% (106) | 12% (106) | |
| ARSA | 79% (108) | 4% (108) | 17% (108) | ||
| LSI DiGeorge/VCFS and ARSA | 60% (101) | ||||
| 24, F | LSI DiGeorge/VCFS | 79% (111) | 6% (111) | 15% (111) | |
| ARSA | 75% (113) | 10% (113) | 15% (113) | ||
| LSI DiGeorge/VCFS and ARSA | 53% (105) | ||||
| 25, F | LSI DiGeorge/VCFS | 88% (103) | 2% (103) | 10% (103) | |
| ARSA | 76% (104) | 5% (104) | 19% (104) | ||
| LSI DiGeorge/VCFS and ARSA | 57% (103) | ||||
| 26, F | LSI DiGeorge/VCFS | 81% (117) | 2% (117) | 17% (117) | |
| ARSA | 78% (115) | 2% (115) | 20% (115) | ||
| LSI DiGeorge/VCFS and ARSA | 50% (113) | ||||
| 27, M | LSI DiGeorge/VCFS | 84% (117) | 0% (117) | 16% (117) | |
| ARSA | 78% (118) | 3% (118) | 19% (118) | ||
| LSI DiGeorge/VCFS and ARSA | 49% (113) | ||||
| 28, M | LSI DiGeorge/VCFS | 85% (114) | 2% (114) | 13% (114) | |
| ARSA | 83% (115) | 2% (115) | 15% (115) | ||
| LSI DiGeorge/VCFS and ARSA | 58% (112) | ||||
| 29, M | LSI DiGeorge/VCFS | 88% (104) | 3% (104) | 9% (104) | |
| ARSA | 83% (104) | 4% (104) | 13% (104) | ||
| LSI DiGeorge/VCFS and ARSA | 53% (99) | ||||
| 30, M | LSI DiGeorge/VCFS | 80% (108) | 1% (108) | 19% (108) | |
| ARSA | 71% (108) | 2% (108) | 27% (108) | ||
| LSI DiGeorge/VCFS and ARSA | 51% (107) | ||||