TABLE II.
Summary of Chromosomal Microarray Results.
| Patient | 1 | 2‡ | 3 | 4 | 5 | 6 | 7 | 8 | 9 | 10 | 11 | 12 | 13 | 14 | 15 | 16 | 17 | 18 | 19 |
|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|---|
| Inheritance | de novo | de novo | UK | mat | de novo | UK | de novo | UK | de novo | UK | UK | UK | UK | UK | UK | de novo | de novo | not mat | UK |
| Terminal deletion? | No | Yes | Yes | No | Yes | Yes | Yes | Yes | No | No | Yes | No | Yes | No | Yes | Yes | Yes | Yes | Yes |
| Minimal deletion size (kb) | 292 | 487 | 2,138 | 638 | 2,250 | 461 | 1,168 | 2,964 | 446 | 278 | 3,995 | 216 | 336 | 182 | 552 | 1,633 | 154 | 3,706 | 387 |
| Minimal distal breakpoint (chr10) | 281,134 | 103,934 | 62,747 | 101,955 | 214,559 | 170,772 | 62,797 | 126,361 | 284,172 | 426,747 | 50,001 | 144,508 | 115,543 | 215,071 | 128,680 | 115,544 | 148,946 | 106,829 | 106,418 |
| Minimal proximal breakpoint (chr10) | 573,548 | 591,089 | 2,200,913 | 739,804 | 2,464,948 | 631,403 | 1,230,967 | 3,090,934 | 730,188 | 704,987 | 4,045,012 | 360,879 | 451,742 | 396,871 | 681,123 | 1,748,581 | 303504 | 3,812,917 | 493,460 |
| Maximal deletion size (kb)† | 308 | 606 | N/A | N/A | 2,485 | 679 | 1,231 | 3,135 | 482 | 298 | 4,045 | 233 | 474 | 215 | 690 | N/A | 318 | 3,852 | N/A |
| Maximal distal breakpoint (chr10)† | 269,248 | 1 | N/A | N/A | 1 | 1 | 1 | 1 | 266,577 | 418,253 | 1 | 138,266 | 1 | 203,183 | 1 | N/A | 1 | 1 | N/A |
| Maximal proximal breakpoint (chr10)† | 577,223 | 605,782 | N/A | N/A | 2,485,482 | 678,748 | 1,230,967 | 3,135,279 | 748,497 | 716,434 | 4,045,012 | 371,706 | 474,201 | 418,193 | 689,830 | N/A | 317,582 | 3,852,143 | N/A |
| Array design | Illumina HumanHa p550V3 | Illumina HumanHa p550V1 | Genome-Wide Human SNP Array 6.0 (Affymetrix) | Genome-Wide Human SNP Array 6.0 (Affymetrix) | Custom-designed CGH array (Agilent) | Custom-designed CGH array (Agilent) | Genome-wide Human SNP Array 6.0 (Affymetrix) | ISCA 44K CGH Array (Agilent) | Whole-Genome Oligo Array CGH, GenomeDx microarray V3, 105K | 135K-feature whole-genome oligo array SignatureChipOS v2.0 (Signature Genomics) | Whole-genome BAC array SignatureChipWG (Signature Genomics) | 105K oligo (Signature ChipOS v1.0) | 105K oligo (Signature Chip OS v1.0) | 135K-feature whole-genome oligo array SignatureChipOS v2.0 (Signature Genomics) | 135K-feature whole-genome oligo array SignatureChipOS v2.0 (Signature Genomics) | 244K CGH Array (Agilent) | GeneChip Human Mapping 250K Nsp Array (Affymetrix) | CytoSure ISCA 180K Array (OGT) | ISCA 180K CGH Array (Agilent) |
All breakpoint coordinates, hg18 UCSC March 2006 build
†
maximal deletion size includes the distance from the next non-deleted distal and proximal probes, respectively
‡
previously reported as Case 98, Ravnan et al., 2006; N/A: not available or applicable