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Smith-Magenis  syndrome (SMS) is a rare syndrome with multiple congenital malformations,  including development and mental retardation, behavioral problems and a  distinct facial appearance. SMS is caused by haploinsufficiency of RAI1 (deletion  or mutation of RAI1). We describe an eight-year-old female Chinese  patient with multiple malformations, congenital heart defect, mental retardation,  and behavioral problems (self hugging, sleeping disturbance). High-resolution  genome wide single nucleotide polymorphism array revealed a 3.7-Mb deletion in  chromosome region 17p11.2. This chromosome region contains RAI1, a  critical gene involved in SMS. To the best of our knowledge, this is the first  report of an SMS patient in mainland China.

Microdeletion on 17p11.2 in a Smith-Magenis syndrome patient with mental retardation and congenital heart defect: first report from China