title: 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.
  
  
  METHODS
  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.
  
  
  CONCLUSIONS
  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.affiliation: Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. dulikasanjeewani@gmail.com.
authors.forename: Dulika S
authors.initials: DS
authors.lastname: Sumathipala
authors.affiliation: Asiri Center for Genomic and Regenerative Medicine, Narahenpita, Sri Lanka. acgrm@asiri.lk.
authors.forename: Eranda N
authors.initials: EN
authors.lastname: Mandawala
authors.affiliation: Faculty of Medicine, University of Kelaniya, Kelaniya, Sri Lanka. samanmalis@yahoo.com.
authors.forename: Samanmalee P
authors.initials: SP
authors.lastname: Sumanasena
authors.affiliation: Human Genetics Unit, Faculty of Medicine, University of Colombo, Colombo, Sri Lanka. vajirahwd@yahoo.com.|Asiri Center for Genomic and Regenerative Medicine, Narahenpita, Sri Lanka. vajirahwd@yahoo.com.
authors.forename: Vajira H W
authors.initials: VH
authors.lastname: Dissanayake
mesh_terms: D000015:Abnormalities, Multiple / Q000235:genetics; D002675:Child, Preschool; D025063:Chromosome Disorders / Q000235:genetics*; D058674:Chromosome Duplication / Q000235:genetics*; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D041321:Chromosomes, Human, X / Q000235:genetics*; D005260:Female; D006801:Humans; D016133:Polymerase Chain Reaction