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High-functioning autism in a Sri Lankan youth with Langer-Giedion syndrome

Show simple item record Chandradasa, M. Williams, S. 2018-07-05T03:34:38Z 2018-07-05T03:34:38Z 2018
dc.identifier.citation Psychiatric genetics.2018;28(3):55-57 en_US
dc.identifier.issn 0955-8829 (Print)
dc.identifier.issn 1473-5873 (Electronic)
dc.identifier.issn 0955-8829 (Linking)
dc.description Indexed In MEDLINE en_US
dc.description.abstract The trichorhinophalangeal syndrome is a rare genetic disorder with a classical clinical triad of sparse hair, bulbous nose, and short digits. There are three known phenotypes, and the type II with exostoses in long bones is known as Langer-Giedion syndrome. Here, we describe a 28-year-old Sri Lankan male with Langer-Giedion syndrome and high-functioning autism. The karyotype found a microdeletion of the long arm of chromosome 8 with mosaicism [46,XY/46,XY,del(8)(q24.1q24.3)]. This is probably the first report of Langer-Giedion Syndrome with autism and the first report of the genetic syndrome from Sri Lanka. Furthermore, we could only access one previous report of the same microdeletion, which was from an autopsy of a 36-week-old infant. en_US
dc.language.iso en_US en_US
dc.publisher Lippincott Williams & Wilkins en_US
dc.subject Autism en_US
dc.title High-functioning autism in a Sri Lankan youth with Langer-Giedion syndrome en_US
dc.type Article en_US

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