Clinical and molecular cytogenetic findings of the study cohort
| Total participants | 48 | Female:male | 28:20 |
|---|---|---|---|
| Average age | 11.2 years | Range | 0.9–38 years |
| Initial diagnosis by karyotype/FISH | 88% (30/34) | Initial diagnosis by CMA | 12% (4/34) |
| Size range of 4p deletion | 1.7–33.9 Mbp | Number of genes deleted | 28–207 |
| Individuals with a second CNV | 29% (14/48) | Average size of second CNV | 3.2 Mbp (range 51.3 kbp to 8.3 Mbp) |
| Individuals with only a 4p deletion by deletion type | Interstitial: 5 | Terminal: 29 |
CMA, chromosomal microarray analysis.