Families

Potocki-Lupski syndrome (PTLS; OMIM #610883) occurs when there is an extra copy of the RAI1gene. Too much RAI1usually occurs due to a duplication of chromosome 17p11.2 that includes RAI1. Persons with PTLS may have delayed childhood milestones, learning difficulties, behavioral problems, heart problems, and facial differences. They may also have difficulty focusing. While PTLS does not typically run in families, it can be passed down through the family from parent to child. PTLS is estimated to occur in about 1 in 25,000 people.