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http://repository.kln.ac.lk/handle/123456789/10516
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. |
URI: | http://repository.kln.ac.lk/handle/123456789/10516 |
ISSN: | 1756-0500 (Electronic) |
Appears in Collections: | Journal/Magazine Articles |
Files in This Item:
File | Description | Size | Format | |
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BMC.sumathipala.2015.pdf | 1.02 MB | Adobe PDF | View/Open |
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