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 accordance with Potocki-Lupski syndrome. This is the first diagnosed patient in Sri Lanka.

• Authors: Dulika S Sumathipala, Eranda N Mandawala, Samanmalee P Sumanasena, Vajira H W Dissanayake
• Journal: BMC research notes (BMC Res Notes) Vol. 8 Pg. 506 (Sep 29 2015) ISSN: 1756-0500 [Electronic] England
• PMID: 26419729 (Publication Type: Case Reports, Journal Article)

Topics

• Abnormalities, Multiple (genetics)
• Child, Preschool
• Chromosome Disorders (genetics)
• Chromosome Duplication (genetics)
• Chromosomes, Human, Pair 17 (genetics)
• Chromosomes, Human, X (genetics)
• Female
• Humans
• Polymerase Chain Reaction