Patient 1This study | Patient 2This study | Patient 3Vissers et al, 200313Koolen et al, 200414 | Patient 4De Vries et al, 200515 | Patient 5De Gregori et al, 200716 | |
Deleted region | 2q23.1 | 2q22.3–q23.1 | 2q22.3–q23.2 | 2q23.1–q23.2 | 2q22.3–q23.1 |
Array method | Oligo-array, Agilent 4×44K | BAC array, 3172 clones | BAC array, 3569 clones | BAC array, 32447 clones | Oligo-array, Agilent 244 K |
Breakpoints of imbalance | |||||
Region of proximal breakpoint | RP11-379G6/RP11-548K13 | RP11-67J2/RP11-89L3 | |||
148.836–149.062 | 145.268–146.891 | 145.410–146.734 | 149.17 (start clone) | 148.14–148.18 | |
Region of distal breakpoint | RP11-659J19/RP11-62P16 | RP11-72H23/RP11-79A11 | |||
149.319–149.362 | 149.268–150.720 | 148.694–151.147 | 150.09 (end clone) | 149.32–149.33 | |
Deletion minimal size (kb) | ∼250 | ∼2400 | ∼2000 | ∼920 | ∼1100 |
Candidate genes | ACVR2A | ACVR2A | ACVR2A | ||
ORC4L | ORC4L | ORC4L | |||
MBD5 | MBD5 | MBD5 | MBD5 | MBD5 | |
EPC2 | EPC2 | EPC2 | EPC2 | EPC2 | |
KIF5C | KIF5C |
Map positions refer to the Genome Assembly May 2004. Proximal breakpoints are localised in the region between the end of the last non-deleted bacterial artificial chromosome (BAC) or probe before the deletion and the start of the first deleted BAC (start clone) or probe. Distal breakpoints are localised in the region between the end of the last deleted BAC (end clone) or probe and the start of the first non-deleted BAC or probe after the deletion. For BAC arrays, the minimal size of copy number changes is calculated from the start of the first clone to the end of the last clone with decreased ratios.