Summary of investigated aberrations with reference to respective deletion size and SNP content, and estimation of 100K array sensitivity deduced from its SNP coverage and extrapolation of 10K results
| Patient | Aberration | Detection method | Position (M) | Del size (M) | SNP content | 100K* | |
|---|---|---|---|---|---|---|---|
| EA 10K | M 10K | ||||||
| HRK, high resolution karyotyping, confirmed by FISH analysis; FISH, specific fluorescence in situ hybridisation analysis with single copy locus probes after clinical suspicion; ST, subtelomere FISH screening. *SNP content estimated from pre-release information, which might differ from the finally available array; †deletions tested and identified with the EA or Mapping 10K array; ‡duplication tested and identified with the Mapping 10K Chip; §aberrations tested and found to be not identifiable with the Early Access (EA) or GeneChip Mapping (M) 10K array, ¶patient not tested with EA or Mapping 10K array, but deletion or duplication expected to be identifiable due to its SNP content; **patient not tested with the Mapping 10K Chip, but deletion or duplication expected to be identifiable due to its SNP content. | |||||||
| P11 | del(15)(q26.1) | HRK | 87/89–100 | <13 | 53† | >58¶ | >402¶ |
| P1 | del(2)(q37.1) | HRK | 231/232–243 | <12 | 18† | 20¶ | >130¶ |
| P9 | del(2)(q22q22) | FISH | 142.4–153.8 | 11.4 | 30† | 38¶ | 563¶ |
| P14 | del(7)(q36.1) | HRK | 147–158 | <11 | 27† | 31¶ | 319¶ |
| P19 | del(2)(q33.3q35) | HRK | 205/207–216/220 | <10 | 39† | >50¶ | >576¶ |
| P17 | del(X)(p22.31) | FISH | 0–7.5 | 7.5 | 0§ | 9† | >107¶ |
| P20a | del(15)(q11.2q13) | HRK | ∼19–26 | <7 | 16† | >30¶ | >173¶ |
| P15 | del(15)(q11.2q13) | HRK | ∼19–26 | <7 | 16† | >30¶ | >173¶ |
| P5a | del(10)(q26.3) | ST | 130–135 | 5.0 | 14† | 14† | >73¶ |
| P13 | del(17)(p11.2p11.2) | HRK | 17–20.7 | 3.7 | 1§ | 2 | 32¶ |
| P4 | del(5)(q35.3) | ST | 177.5–181 | 3.5 | 3§ | 4† | 71¶ |
| P16 | del(17)(p13.3) | FISH | 0–3.5 | 3.5 | 2§ | 2§ | 49¶ |
| P10 | del(1)(p36.3) | FISH | 0–3 | 3.0 | 0§ | 1 | 16¶ |
| P2 | del(22)(q11.2q11.2) | FISH | 17–20 | 3.0 | 5§ | 6† | 39¶ |
| P20b | del(22)(q11.2q11.2) | FISH | 17–20 | 3.0 | 5§ | 6¶ | 39¶ |
| P12 | del(4)(p16.3) | FISH | 0–2.3 | 2.3 | 0§ | 3† | 22¶ |
| P18 | del(7)(q11.23q11.23) | FISH | 72.1–74.0 | 1.9 | 0§ | 0 | 9¶ |
| P7 | del(16)(p16.3) | ST | 0–1.7 | 1.7 | 0§ | 0 | 7–8¶ |
| P8 | del(22)(q11.2q11.2) | FISH | 21.3–21.9 | 0.6 | 0§ | 0 | 16¶ |
| P3 | del(4)(p16.3) | FISH | 1.88–2.05 | 0.19 | 0§ | 1 | 2 |
| P5b | dup(22)(q13.3) | ST | 44–49 | 5.0 | 4–5 | 9‡ | 112** |