Checklist for patients with submicroscopic subtelomeric rearrangements
| Items | Score |
| Family history of mental retardation | |
| Compatible with Mendelian inheritance | 1 |
| Incompatible with Mendelian inheritance | 2 |
| (including discordant phenotypes) | |
| Prenatal onset growth retardation | 2 |
| Postnatal growth abnormalities | 2 |
| For each of the following 1 point (max 2) | |
| Microcephaly (1), short stature (1) | |
| Macrocephaly (1), tall stature (1) | |
| ⩾2 facial dysmorphic features | 2 |
| Notably hypertelorism, nasal anomalies, ear anomalies | |
| Non-facial dysmorphism and congenital abnormalities | 2 |
| For each anomaly 1 point (max 2) | |
| Notably hand anomaly (1), heart anomaly (1), | |
| hypospadias +/− undescended testis (1) | |