Table 1.
Summary of the array CGH and FISH results patient 1
| Chromosome band | Clonea | Distance from pter (Mb)e | Der(17) | Technique(s) | ||
|---|---|---|---|---|---|---|
| 17p13.3 | CTD-2348K1 | 0.1 | – | Array CGH | ||
| 17p13.3 | CTD-2326F1 | (Green) | 0.1 | – | Array CGH/FISH | |
| 17p13.3 | CTD-2573J8 | 0.2 | – | Array CGH | Del I | |
| 17p13.3 | RP11-1260E13 | (Red) | 0.3 | – | FISH | |
| 17p13.3 | RP11-143G11 | 0.6 | – | Array CGH | ||
| 17p13.3 | RP11-488O17 | 0.6 | Normal | Array CGH | ||
| 17p13.3 | RP11-411G7 | 0.6 | Normal | FISH | ||
| 17p13.3 | RP1-95H6b | (Red) | 2.7 | Inv ins | FISH | |
| 17p13.2 | RP11-148L19 | 4.1 | Inv ins | FISH | ||
| 17p13.2 | GS-202L17c | (Green) | 4.9 | Inv ins | FISH | Middle SMS-REP/LCR17pB |
| 17p13.2 | RP11-373N8 | 5.5 | Inv ins | FISH | ||
| 17p12 | RP11-466J1 | 11.1 | Normal | Array CGH | ||
| 17p12 | RP11-22L4 | 11.2 | Normal | FISH | ||
| 17p12 | RP11-271N1 | 11.4 | Normal | Array CGH | ||
| 17p12 | RP11-165H21 | 11.5 | – | Array CGH | ||
| 17p12 | RP11-802E21 | 11.6 | – | Array CGH | ||
| 17p12 | RP11-64L11 | 13.1 | – | FISH | Del II | |
| 17p12 | RP11-352N24 | 13.2 | – | Array CGH | ||
| 17p12 | RP11-590H8 | 13.4 | – | Array CGH | ||
| 17p12 | RP11-112H7 | 13.6 | Normal | Array CGH | ||
| 17p12 | CTD-2120F7 | 13.7 | Normal | Array CGH | ||
| 17p12 | RP11-687M21 | 13.9 | ++ | Array CGH | ||
| 17p12 | RP11-78J16 | 14.1 | ++ | Array CGH | ||
| 17p12 | RP1-150M12d | (Red) | 15.4 | ++ | FISH | |
| 17p11.2 | RP11-209J20 | 16.3 | ++ | FISH | ||
| 17p11.2 | RP11-525O11 | (Green) | 17.6 | ++ | FISH | Dup I |
| 17p11.2 | RP1-178F10 | 18.4 | ++ | FISH | ||
| 17p11.2 | RP11-28B23 | 18.7 | ++ | FISH | ||
| 17p11.2 | RP11-1113L8 | 19.3 | ++ | FISH | ||
| 17p11.2 | RP11-277B5 | 19.4 | ++ | FISH | ||
| 17p11.2 | CTD-2019P4 | 19.6 | ++ | Array CGH/FISH | ||
| 17p11.2 | CTD-2020J20 | 19.7 | Normal | Array CGH | ||
| 17p11.2 | RP11-78O07 | 19.7 | Normal | FISH | ||
| Chromosome band | Clone | Distance from pter (Mb)e | Der(21) | Technique(s) | ||
| 21q22.3 | RP11-690D9 | 42.5 | Normal | Array CGH | ||
| 21q22.3 | RP11-282I20 | 42.6 | ++ | Array CGH | ||
| 21q22.3 | RP11-40L10 | (Green) | 44.2 | ++ | FISH | Dup II |
| 21q22.3 | RP11-16B19 | (Red) | 45.1 | ++ | FISH | Located on der(17) |
| 21q22.3 | RP11-1000I21 | 46.8 | ++ | Array CGH |
‘–’ Deleted, ‘++’ duplicated, ‘inv ins’ inverted inversion. Extent of deletion and duplication is indicated at the right. Breakpoint-associated LCRs are indicated in bold
aClones indicated by red or green are shown in Fig. 3a–d in the respective colors
bLIS1-specific PAC clone (adapted from Chong et al. 1997)
cAdapted from Knight et al. 2000
dPMP22-specific PAC clone
eDistances from pter to the clone midpoints