Pws

Molecular Etiology

 * 15q11-13


 * 70% paternal microdeletion
 * 1% chromosomal translocation rearrangement


 * 25-29% Uniparental Disomy
 * <1% Imprinting Defect

Maternal UPD vs Deletion

 * Less likely to have facial features
 * Hypopigmentation
 * Skill with jigsaw puzzles
 * Slightly higher IQ
 * Milder behavioral problems
 * More likely to have psychosis
 * More likely to have Autism Spectrum Disorder