Comprehensive methylation analysis in typical and atypical PWS and AS patients with normal biparental chromosomes 15.

摘要

Imprinting defects in 15q11-q13 are a rare but significant cause of Prader-Willi syndrome (PWS) and Angelman syndrome (AS). Patients with an imprinting defect have apparently normal chromosomes 15 of biparental origin, but are recognised by