Table 1 The genotype of Prader-Willi syndrome
From: Recommendations for the diagnosis and management of childhood Prader-Willi syndrome in China
Genotypes | Subtypes | Molecular mechanism |
|---|---|---|
Paternal deletion (I) | Ia | BP I-BP III |
| Â | Ib | BP II-BP III |
| Â | Ic | BP I-BP IV |
| Â | Id | BP I-BP V |
mUPD (II) | IIa | Isodisomy |
| Â | IIb | Heterodisomy |
Imprinting defect (III) | IIIa | Imprinting center deletion |
| Â | IIIb | Epimutation |
Others (e.g. Robertsonian translocation) | Â | Robertsonian translocation [15] from mother |