Table 1 General characteristics of the cohort of 1007 consecutive GS cases.
Features | Cohort of all GS case (n = 1007) |
|---|---|
Age at onset | Range: prenatal–59 years |
Prenatal | 165 (16%) |
0–5 years old | 386 (38%) |
6–16 years old | 50 (5%) |
Older than 16 years old | 24 (2%) |
Unknown | 382 (38%) |
Age at testing | |
Prenatal | 11 (1%) |
0–5 years old | 501 (50%) |
6–16 years old | 329 (33%) |
Older than 16 years old | 138 (14%) |
Unknown | 28 (9%) |
Family history | |
Positive | 357 (35%) |
Negative | 382 (38%) |
Unknown | 268 (27%) |
Consanguinity | |
Yes | 513 (51%) |
No | 338 (34%) |
Unknown | 156 (15%) |
Geographical origin | |
North America | 39 (4%) |
Latin America | 37 (4%) |
Europe | 114 (11%) |
Middle East–North Africa | 785 (78%) |
Asia–Australia | 32 (3%) |
Previous genetic testing | |
ES | 358 (36%) |
CMA | 165 (16%) |
Panel | 80 (8%) |
Other | 235 (23%) |
Total number of tests | 838 |
GS test design | |
Solo | 476 (47%) |
Trio | 437 (44%) |
Other | 94 (9%) |
