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DC Field | Value | Language |
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dc.contributor.author | Sumathipala, D.S. | - |
dc.contributor.author | Mandawala, E.N. | - |
dc.contributor.author | Samanmalee, P.S. | - |
dc.contributor.author | Vajira, H.W.D. | - |
dc.date.accessioned | 2015-12-01T05:01:27Z | - |
dc.date.available | 2015-12-01T05:01:27Z | - |
dc.date.issued | 2015 | - |
dc.identifier.citation | BMC Research Notes.2015;8(1):506 | en_US |
dc.identifier.issn | 1756-0500 (Electronic) | - |
dc.identifier.uri | http://repository.kln.ac.lk/handle/123456789/10516 | - |
dc.description.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. | en_US |
dc.language.iso | en_US | en_US |
dc.publisher | Biomed Central | en_US |
dc.subject | Potocki-Lupski syndrome | en_US |
dc.title | 17p11. 2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome | en_US |
dc.type | Article | en_US |
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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