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Smith Magenis syndrome

How is it diagnosed?

The characteristic behaviour and sleep disturbance coupled with the distinctive facial features often suggest the diagnosis, which can be confirmed by FISH analysis to look for the 17 p 11.2 microdeletion.

View What are the causes? What are the causes?  |  Inheritance patterns and prenatal diagnosis View Inheritance patterns and prenatal diagnosis

Medical text written July 2003 by Contact a Family. Approved July 2003 by Dr J Tolmie, Consultant Clinical Geneticist, Duncan Guthrie Institute of Medical Genetics, Glasgow, UK. Last reviewed January 2004 by Dr M Suri, Consultant Clinical Geneticist, City Hospital, Nottingham, UK. Additional material provided by Dr O Udwin, Consultant Clinical Child Psychologist, West London Mental Health NHS Trust, London, UK.

 

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