| Sjukdomar | Betyg | Bibliogr. | Expandera | |
|---|---|---|---|---|
| 1 | Könskromosomrubbningar | 100 | + | |
| 2 | Downs syndrom | 39 | + | |
| 3 | Prader-Willis syndrom | 8 | + | |
| 4 | 22q11 Deletion Syndrome | 7 | + | |
| 5 | Holoprosencefali | 5 | + | |
| 6 | Angelmans syndrom | 3 | + | |
| 7 | Silver-Russell Syndrome | 3 | + | |
| 8 | Kattjam-syndromet | 3 | + | |
| 9 | Beckwith-Wiedemanns syndrom | 2 | + | |
| 10 | 11q-deletionssynromet | 1 | + | |
| 11 | Wolf-Hirchhorns syndrom | 1 | + | |
| 12 | Williams syndrom | 1 | + |