Browsing by Author "Sumathipala, D.S."

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    17p11. 2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome
    (Biomed Central, 2015) Sumathipala, D.S.; Mandawala, E.N.; Samanmalee, P.S.; Vajira, H.W.D.
    BACKGROUND: 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.