| Maladies | Évaluation | Bibliogr. | Élargir | |
|---|---|---|---|---|
| 1 | Maladies Liées Aux Chromosomes Sexuels | 100 | + | |
| 2 | Syndrome De Down | 54 | + | |
| 3 | 22q11 Deletion Syndrome | 34 | + | |
| 4 | Syndrome D'Angelman | 25 | + | |
| 5 | Jacobsen Distal 11q Deletion Syndrome | 19 | + | |
| 6 | Syndrome De Williams | 18 | + | |
| 7 | Holoprosencéphalie | 17 | + | |
| 8 | Syndrome Du Cri-Du-Chat | 17 | + | |
| 9 | Syndrome Wagr | 8 | + | |
| 10 | Syndrome De De Lange | 5 | + | |
| 11 | Syndrome De Rubinstein-Taybi | 5 | + | |
| 12 | Syndrome De Beckwith-Wiedemann | 3 | + |