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Title: 17p11. 2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome
Authors: Sumathipala, D.S.
Mandawala, E.N.
Samanmalee, P.S.
Vajira, H.W.D.
Keywords: Potocki-Lupski syndrome
Issue Date: 2015
Publisher: Biomed Central
Citation: BMC Research Notes.2015;8(1):506
Abstract: 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.
ISSN: 1756-0500 (Electronic)
Appears in Collections:Journal/Magazine Articles

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