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

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

SUBMITTER: Sumathipala DS 

PROVIDER: S-EPMC4588678 | biostudies-literature | 2015 Sep

REPOSITORIES: biostudies-literature