Sumathipala, D.S.Mandawala, E.N.Samanmalee, P.S.Vajira, H.W.D.2015-12-012015-12-012015BMC Research Notes.2015;8(1):5061756-0500 (Electronic)http://repository.kln.ac.lk/handle/123456789/10516BACKGROUND: Potocki-Lupski syndrome is a microduplication syndrome associated with duplication at 17p11.2. Features include facial dysmorphism, moderate to mild cognitive impairment and behavioural abnormalities including autism spectrum disorders. CASE PRESENTATION: We describe a patient from Sri Lanka that was referred for genetic assessment at 4 years of age due to subtle facial dysmorphism and expressive language impairment. She was diagnosed with Potocki-Lupski syndrome through multiplex ligation probe amplification. She carried two duplications; one in 17p11.2 consistent with Potocki-Lupski, and one in Xq including the region for X-linked intellectual disability. CONCLUSION: Despite the absence of expected behavioural symptoms, many features of this patient are in accordance with Potocki-Lupskisyndrome. This is the first diagnosed patient in Sri Lanka.en-USPotocki-Lupski syndromeArticle