We report a 4 year old female with 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. She was a product of non-consanguineous parents, born at 37 weeks gestation by lower segment caesarean section due to maternal gestational diabetes, with a birth weight of 2.885 kg. There was no history of infantile hypotonia. Developmental milestones were delayed with walking achieved at 2 years of age. Speech delay was noted and at presentation she was capable of speaking a maximum of two words together with inability to construct sentences. Receptive language skills were not impaired. Hearing showed no clinically apparent deficit. Vision was impaired with hypermetropia, and she used spectacles. She was cheerful and engaged well socially. Common symptoms of autism including avoidance of eye contact, repetitive behaviour, fixations and lack of interest in social interaction were not present. She had borderline to mild intellectual disability based on clinical evaluation and was schooling with peers. There was no history of cardiac defects or sleeping problems. On examination she had distinctive facial features including triangular face, wide forehead, slightly downslanting palpebral fissures, prominent tip of nose, smooth philtrum, and dental malocclusion. Hands showed clinodactyly of the 5th finger bilaterally and an increased gap between the first and second toe of the right foot.