Potocki-Lupski Syndrome
摘要
Potocki-Lupski syndrome (PTLS) is a rare neurodevelopmental disorder that occurs by heterozygous de novo microduplication in the short arm of chromosome 17, at p11.2 position (Fig. 1). It may be present in different levels of clinical expressivities ranging from mild behavioral disturbances to severe degrees of autism and borderline to extreme developmental delays.