Summary of chromosome abnormalities detected by array CGH and associated positive clones, QMPSF amplicons and FISH probes used for validation experiments, and parental analysis
| Case | Chromosome abnormality | Estimated size (Mb) | CGH array clones | QMPSF amplicons* | FISH probes | Parental analysis |
|---|---|---|---|---|---|---|
| NA, not available. Mb, megabases. | ||||||
| *All these abnormalities detected by array CGH were confirmed by QMPSF with one or two amplicons; †clones showing weak signals. | ||||||
| Fetus 17 | Deletion 22q11.2 | 3 | RP1-157 E19 | Normal | ||
| RP1-238 C15 | TBX1 | NA | ||||
| RP11-316 L10 | ||||||
| Fetus 21 | Deletion 15qtel | 3–10 | GS-251P4 | BLP2 | RP1-154 P1 | Normal |
| CTD-2353 N21 | FLJ25005 | |||||
| RP1-154 P1 | ||||||
| Fetus 27 | Deletion 6qtel | <5 | RP1-57 H24 | TBP | NA | Maternal |
| DLL1 | deletion | |||||
| Fetus 41 | Deletion 16q23.1–q23.3 | 5–10 | RP6-200 H22 | CDH13 | NA | Normal |
| RP11-43 L5 | WWOX | |||||
| Fetus 52 | Duplication 18q | 60 | RP11-666O22† | KIAA0863 | RP11-507P3 | Normal |
| (length of | RP11-673 D22 | PARD6G | ||||
| 18q arm) | GS-185O2† | |||||
| GS-568A 15 | ||||||
| GS-385 N22 | ||||||
| RP11-676 O1 | ||||||
| RP11-507 P3 | ||||||
| Fetus 20 | Duplication 10qtel | <1 | CTD-2545 L18 | CYP2E | NA | Maternal |
| GS1-261 B16 | Loc93426 | duplication | ||||
| Fetus 24 | Duplication 10qtel | <1 | CTD-2545 L18 | CYP2E | NA | Paternal |
| GS1-261 B16 | Loc93426 | duplication | ||||
| Fetus 36 | Duplication 10qtel | <1 | CTD-2545 L18 | CYP2E | NA | Maternal |
| GS1-261 B16 | Loc93426 | duplication | ||||