Mosaicism for genome‐wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues
Mosaicism for genome‐wide paternal uniparental disomy with features of multiple imprinting disorders: Diagnostic and management issues
M. Inbar‐Feigenberg,S. Choufani,5 作者,R. Weksberg
2013 · DOI: 10.1002/ajmg.a.35651
American Journal of Medical Genetics. Part A · 引用 48 次
TLDR
An eighth case in a female patient with mosaicism for genome‐wide paternal uniparental disomy is reported which highlights the complex clinical presentation and represents the first report of microarray‐based genome-wide DNA methylation analysis in the diagnosis of genome‐ wide paternal UPD.