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17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome.


ABSTRACT: 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.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.Despite the absence of expected behavioural symptoms, many features of this patient are in accordance with Potocki-Lupski syndrome. This is the first diagnosed patient in Sri Lanka.

SUBMITTER: Sumathipala DS 

PROVIDER: S-EPMC4588678 | biostudies-literature | 2015

REPOSITORIES: biostudies-literature

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17p11.2 and Xq28 duplication detected in a girl diagnosed with Potocki-Lupski syndrome.

Sumathipala Dulika S DS   Mandawala Eranda N EN   Sumanasena Samanmalee P SP   Dissanayake Vajira H W VH  

BMC research notes 20150929


<h4>Background</h4>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.<h4>Case presentation</h4>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  ...[more]

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