Microdeletion on  17p11.2 in a Smith-Magenis syndrome patient with mental retardation and  congenital heart defect: first report from China.
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.
Department of Cardiothoracic Surgery, Second Xiangya Hospital, Central South University, Changsha, Hunan, China.
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C
Huang
Y-F
YF
Yang
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Zhang
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L
Xie
J-L
JL
Chen
J
J
Wang
Z-P
ZP
Tan
H
H
Luo
D002648:Child; D002675:Child, Preschool; D002681:China; D002872:Chromosome Deletion; D002886:Chromosomes, Human, Pair 17 / Q000235:genetics*; D019066:Facies; D005260:Female; D006330:Heart Defects, Congenital / Q000150:complications / Q000235:genetics*; D006801:Humans; D007231:Infant, Newborn; D008607:Intellectual Disability / Q000150:complications* / Q000235:genetics*; D020641:Polymorphism, Single Nucleotide / Q000235:genetics; D058496:Smith-Magenis Syndrome / Q000150:complications* / Q000235:genetics*