Is Prader-Willi Syndrome Uniparental Disomy?
Is Prader-Willi Syndrome Uniparental Disomy? Prader-Willi syndrome (PWS) is a complex genetic disorder. About 70% of cases have a paternal deletion at 15q11-q13, and most of the remaining cases are caused by maternal uniparental disomy (UPD). In rare cases of PWS with maternal UPD, small marker chromosomes are identified. How does Uniparental Disomy contribute to […]