Table 1.
Clinical overview of RC patients for whom non-polymorphic CNVs vs likely benign and polymorphic CNVs were detected in the aCGH
| Pathogenic + Likely pathogenic (n = 23) | Polymorphic CNVs (n = 134) |
|---|---|
| Gender | Gender |
| Males 15 (65%) | Males 84 (63%) |
| Females 8 (35%) | Females 50 (37%) |
| ID | ID |
| Syndromic 19 (83%) | Syndromic 74 (55%) |
| Non-syndromic 4 (17%) | Non-syndromic 60 (45%) |
| Borderline 1 (4%) | Borderline 8 (6%) |
| Mild 15 (65%) | Mild 75 (56%) |
| Moderate 6 (26%) | Moderate 30 (22%) |
| Severe 0 (0%) | Severe 15 (11%) |
| Profound 1 (4%) | Profound 6 (4%) |
| History | History |
| Sporadic 11 (48%) | Sporadic 54 (40%) |
| Family history of ID 15 (65%) | Family history of ID 80 (60%) |
| Co-morbidities | Co-morbidities |
| Congenital anomalies 11 (48%) | Congenital anomalies 64 (48%) |
| Epilepsy 2 (9%) | Epilepsy 19 (14%) |
| Microcephaly 4 (17%) | Microcephaly 23 (17%) |
| Macrocephaly 1 (4%) | Macrocephaly 13 (10%) |