TABLE 2.
Phenotypic Characteristics and Parental allele Dosage in Different 15q11-q13 rearrangements
| Genotype | Paternal Copya |
Maternal Copya |
Syndrome | Psychotic Rate (%) |
Study |
|---|---|---|---|---|---|
| Normal | 1 | 1 | Normal | 3.5 | Perälä et al. (40) |
| Paternally derived deletion | 0 | 1 | Prader-Willi syndrome | 0–16 | Soni et al. (27), Verhoeven et al. (32), and Vogels et al. (33) |
| Maternal uniparental disomy | 0 | 2 | Prader-Willi syndrome | 56–62 | Soni et al. (27), Verhoeven et al. (32), and Vogels et al. (33) |
| Maternally derived deletion | 1 | 0 | Angelman syndrome | Not observed | Cassidy et al. (29) and Penner et al. (30) |
| Paternal uniparental disomy | 2 | 0 | Angelman syndrome | Not observed | Cassidy et al. (29) and Penner et al. (30) |
| Maternally derived duplication | 1 | 2 | 15q11-q13 duplication syndrome | Yesb | b |
| Paternally derived duplication | 2 | 1 | Normal/unknown | Observed | Hogart et al. (19) |
a
Data indicate copies of the 15q11-q13 critical interval inherited from each parent in individuals with the genotype.
b
Data taken from evidence provided in the present study, though the frequency at which psychosis is present in maternally derived duplications is unknown.