Acta Medica

Acta Medica

Smith Magenis Syndrome: A syndrome with intellectual disability and neurobehavioral problems

Yazarlar: emetemirel, EdaUtine, Korayoduroğlu

Cilt 45 , Sayı 1 , 2014 , Sayfalar -

Konular:-

Anahtar Kelimeler: Smith Magenis syndrome,RAI1,17p11.2 deletion,Neurobehav- ioral problems

Özet: Smith Magenis syndrome is a rare, complex neurobehavioral genetic disor- der caused by an interstitial deletion of chromosome 17p11.2. This region in- cludes retinoic acid induced-1 (RAI-1), gene, which is responsible for most clinical features of Smith Magenis syndrome. Some patients may have a point mutation of RAI1. An 11-year-old girl with intellectual disability was re- ferred to the pediatric genetics department. She had a history of seizures and neurobehavioural problems including impulsivity, aggressiveness, self-injury and sleep disturbance. Ophthalmologic and cardiac examinations were nor- mal. Neurobehavioral pattern and intellectual disability was suggestive for Smith Magenis syndrome, and this was confirmed by fluorescence in situ hy- bridization (FISH), which revealed del (17) (p11.2p11.2) (RAI1-). This patient shows that facial and ophthalmological features may be absent in patients and neurobehavioral phenotype may be the prominent finding.

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@article{2014, title={Smith Magenis Syndrome: A syndrome with intellectual disability and neurobehavioral problems}, volume={45}, publisher={Acta Medica}, author={Mehmet Demirel, [MD] (Author); Eda Utine, [MD], Koray Boduroğlu, [MD]}, year={2014} }
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Mehmet Demirel, [MD] (Author); Eda Utine, [MD], Koray Boduroğlu, [MD]. (2014). Smith Magenis Syndrome: A syndrome with intellectual disability and neurobehavioral problems (Vol. 45). Vol. 45. Acta Medica.
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Mehmet Demirel, [MD] (Author); Eda Utine, [MD], Koray Boduroğlu, [MD]. Smith Magenis Syndrome: A Syndrome with Intellectual Disability and Neurobehavioral Problems. no., Acta Medica, 2014.
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