Figure 1
Summarized results with pathogenic findings identified after microarray comparative genomic hybridization and associated with the phenotype of the patient_
| Patient | Chromosome | Type of Aberration | Position (bp) | Size (bp) | Cytoband | ||
|---|---|---|---|---|---|---|---|
| Start | End | Start | End | ||||
| 79 | 2 | deletion | 50,982,143 | 51,314,401 | 332,259 | 2p16.3 | 2p16.3 |
| 5 | deletion | 175,470,501 | 177,136,261 | 1,665,761 | 5q35.2 | 5q35.3 | |
| 52 | 10 | deletion | 122,804,780 | 135,434,149 | 12,629,370 | 10q26.12 | 10q26.3 |
| 46 | 4 | deletion | 178,213,959 | 190,896,645 | 12,682,687 | 4q34.3 | 4q35.2 |
| 12 | duplication | 230,451 | 14,111,977 | 13,881,527 | 12p13.33 | 12p13.1 | |
| 41 | 17 | deletion | 34,450,435 | 36,248,889 | 1,798,455 | 17q12 | 17q12 |
| 35 | 22 | deletion | 21,561,492 | 22,905,039 | 1,343,548 | 22q11.21 | 22q11.22 |
| 30 | 15 | duplication | 22,765,658 | 29,030,488 | 6,264,831 | 15q11.2 | 15q13.1 |
Number and size of detected benign copy number variations and copy number variations of unknown clinical significance_
| Parameters | Total Number | 100-500 kb | 500 kb - 1 Mb | >1 Mb |
|---|---|---|---|---|
| Benign and CNVs of unknown clinical significance | 239 | 179 | 52 | 8 |
| Benign CNVs | 118 | 90 | 21 | 7 |
| CNVs of unknown clinical significance | 121 | 89 | 31 | 1 |