Molecular characterization of Prader-Willi syndrome by real-time PCR

Prader–Willi syndrome (PWS) is a contiguous gene syndrome caused by the loss of function of genes situated within the 15q11–q13 region. The loss of function arises as a result of paternally derived mutations complemented by maternal imprinting. The molecular events underlying the disorder include interstitial deletions (70%), uniparental disomy (UPD) (25%), imprinting center defects