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

Dulika S Sumathipala,Vajira H W Dissanayake,Eranda N Mandawala,Samanmalee P Sumanasena

doi:10.1186/s13104-015-1439-7

Dulika S Sumathipala, Vajira H W Dissanayake + Show 2 more

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https://doi.org/10.1186/s13104-015-1439-7

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Journal: BMC Research Notes	Publication Date: Sep 29, 2015
Citations: 10	License type: cc-by

Affiliation: University of Colombo

Abstract

BackgroundPotocki–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 presentationWe 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.ConclusionDespite 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.

Highlights

Potocki–Lupski syndrome is a microduplication syndrome associated with duplication at 17p11.2
Despite the absence of expected behavioural symptoms, many features of this patient are in accordance with Potocki–Lupski syndrome
Case presentation We report a 4 year old female with Potocki–Lupski syndrome (PTLS) (OMIM 610883) from Sri Lanka who was diagnosed with duplication 17p11.2 by multiplex ligation probe amplification performed due to severe expressive speech impairment

Summary

Introduction

Potocki–Lupski syndrome is a microduplication syndrome associated with duplication at 17p11.2. 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. The genetic mechanism underlying PTLS has been recognised as Non Allelic Homologous Recombination (NAHR) at the 17p11.2 chromosomal region [3]. This region is known to be rich in low copy repeats which is a major cause for DNA rearrangements and associated genomic disorders. Genetic diagnosis of PTLS has been based on chromosome banding, fluorescent in situ hybridisation, multiplex ligation probe amplification and recently genomewide

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