Table 1.
Patients < 5 Years Old (N = 179) | Patients ≥ 5 Years Old (N = 164) | Total (N = 343) | |
---|---|---|---|
Gender (male/female) | 133/46 | 125/39 | 258/85 |
Age at diagnosis, mean (min–max) | 2.82 (1–4) | 9.46 (5–45) | 6.0 (1–45) |
Genetic testing, n | |||
FMR1 + CMA + WES | 53 | 53 | 106 (30.9%) |
CMA + WES | 37 | 46 | 83 (24.2%) |
CMA (±FMR1) | 65 | 53 | 118 (34.4%) |
WES (±FMR1) | 24 | 12 | 36 (10.5%) |
Total | 179 | 164 | 343 (100%) |
FMR1 = FMR1 testing, CMA = chromosomal microarray; WES = whole exome sequencing.