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Neurologic and Developmental Features of the Smith-Magenis Syndrome (del 17p11.2)

✍ Scribed by Andrea L. Gropman; Wallace C. Duncan; Ann C.M. Smith

Book ID
116824872
Publisher
Elsevier Science
Year
2006
Tongue
English
Weight
645 KB
Volume
34
Category
Article
ISSN
0887-8994

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## Smith -Magenis syndrome (SMS) is a distinct and clinically recognizable multiple congenital anomaly (MCA) and mental retardation syndrome caused by an interstitial deletion of chromosome l7 p11.2. The phenotype of SMS has been well described and includes: a characteristic pattern of physical fe

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## Smith -Magenis syndrome (SMS) is a multiple congenital anomalies/mental retardation syndrome associated with deletion of band p11.2 of chromosome 17. The deletion is typically detected by high-resolution cy- togenetic analysis of chromosomes from peripheral lymphocytes. Fluorescence in situ hybr