Patients with possibly pathogenic chromosomal anomalies
| Patient | Anomaly | Confirmation | De novo/inherited | Parental origin | No of clones* | Maximal length (Mb) | Flanking clones | Distance from telomere (Mb) |
|---|---|---|---|---|---|---|---|---|
| del, deletion, dup, duplication; FISH, fluorescence in situ hybridisation. | ||||||||
| *Number of deleted or duplicated BAC or PAC clones. | ||||||||
| 1 | del 4q21 | Genotyping+FISH | De novo | Paternal | 3 | 6,8 | RP11-438E5/RP11-100N20 | 80639260/82439757.5 |
| 5 | del 4q21–q23 | Genotyping | De novo | Paternal | 19 | 17,3 | RP11-123I8/RP11-13F20 | 86645873/101765092 |
| 7 | del 1p36 | Genotyping+FISH | De novo | Paternal | 1 | 2 | RP11-465B22 | |
| 9 | del 21q22 | Genotyping+FISH | De novo | Paternal | 7 | 7,9 | RP11-98O13/RP11-351D2 | 38076808/43671517 |
| 12 | dup Xq25 | Genotyping+tiling path X | Inherited | Maternal | 2 | 3,4 | RP1-181N1/RP1-159G19 | 120406114/121015944 |
| 14 | dup 1q31 | FISH | – | – | 2 | 2,3 | RP11-440G22/RP11-142L4 | 188430677/188621917 |
| 16 | del 7q11 | Genotyping | De novo | maternal | 4 | 5 | RP11-313P13/RP4-771P4 | 71823926/73556092 |
| 23 | del 5p15.2 | Genotyping+FISH | Inherited | Maternal | 1 | 1,3 | RP11-269G2 | 13276293 |
| 28 | dup15q11–q13 | Genotyping+FISH | De novo | Maternal | 5 | 6,8 | RP11-131I21/RP11-322N14 | 22736034/25689610 |
| 29 | del 3q27.2–q29 | Genotyping+FISH | De novo | Maternal | 11 | 7,9 | RP11-65J14/RP11-56C4 | 187295059/193862995 |