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Smith–Magenis syndrome
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Smith–Magenis syndrome : ウィキペディア英語版
Smith–Magenis syndrome

Smith–Magenis Syndrome (SMS) is a developmental disorder that affects many parts of the body. The major features of this condition include mild to moderate intellectual disability, distinctive facial features, sleep disturbances, and behavioral problems. Smith–Magenis syndrome affects an estimated 1 in 25,000 individuals.
It is a microdeletion syndrome characterized by an abnormality in the short (p) arm of chromosome 17 and is sometimes called the 17p- syndrome.
==Eponym==
The eponym Smith–Magenis refers to two scientists who described the condition in 1986, namely, Ann C. M. Smith, a genetic counselor at the National Institutes of Health, and R. Ellen Magenis, a pediatrician, medical geneticist and cytogeneticist at the Oregon Health Sciences University.

抄文引用元・出典: フリー百科事典『 ウィキペディア(Wikipedia)
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