Table 3 Number of patients with a PWS diagnosis by means of molecular genetic testing performed
From: The Italian registry for patients with Prader–Willi syndrome
Genetic testing performed | N of patients | % |
|---|---|---|
PWS (by mean of a positive methylation test) | 11 | 6.7 |
PWS (by mean of 15q11q13 paternal deletion) | 94 | 57.0 |
PWS (by mean of maternal uniparental disomy, UPD 15 chromosome) | 56 | 33.9 |
PWS (by mean of the imprinting center defect) | 2 | 1.2 |
PWS (by mean of a point mutation) | 1 | 0.6 |
PWS (by mean of a chromosomal translocation) | 1 | 0.6 |
Total | 165 | 100 |