Genetic counseling helps families understand the genetic mechanism of PWS and recurrence risk.
PWS Genetics
PWS results from loss of function of genes on chromosome 15q11-q13. Understanding the specific mechanism (deletion, uniparental disomy, or imprinting defect) is important for recurrence risk assessment. Genetic counseling also addresses diagnostic confirmation and family planning.
What to Look For
- PWS genetics expertise
- Understanding of different PWS mechanisms
- Family planning guidance
Questions to Ask
- What is the specific genetic mechanism in our child?
- What is the recurrence risk?
- Should siblings be tested?