Anka Tıp Dergisi

Anka Tıp Dergisi

Nadir ve Atipik Bulgularla Seyreden Bir Smith-Magenis Sendromu Vakası

Yazarlar: Aysel KALAYCI YİĞİN, Tarık ALAY, Mehmet SEVEN

Cilt 2 , Sayı 1 , 2020 , Sayfalar 46 - 49

Konular:Pediatri, Genetik ve Kalıtım

Anahtar Kelimeler:Smith-Magenis Syndrome,Micropenis,Undescended testis,RAI-1 gene,Microarray analysis

Özet: Smith-Magenis syndrome is a complex sporadically occurring neurodevelopmental disorder affecting many organ systems of the body, which is frequently observed 1/15.000-25.000. Haploinsufficiency caused by the RAI-1 gene at point 17p11.2 are responsible for the clinical manifestations in most of the patients. This syndrome has characterized by distinct craniofacial face appearance, delayed speech and speech difficulty, moderate to severe intellectual disability, behavioral problems and sleep disturbances. Particularly, behavioral problems and sleep disturbances are well defined and almost occur in every patient, gives an important clue about the diagnosis of Smith-Magenis syndrome if accompanied by dysmorphic features. In this study, we present a case with Smith-Magenis syndrome, which is followed by rare, non-typical findings and diagnosed by chromosomal microarray analysis.

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@article{2020, title={Nadir ve Atipik Bulgularla Seyreden Bir Smith-Magenis Sendromu Vakası}, volume={2}, number={46–49}, publisher={Anka Tıp Dergisi}, author={Aysel KALAYCI YİĞİN,Tarık ALAY,Mehmet SEVEN}, year={2020} }
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Aysel KALAYCI YİĞİN,Tarık ALAY,Mehmet SEVEN. (2020). Nadir ve Atipik Bulgularla Seyreden Bir Smith-Magenis Sendromu Vakası (Vol. 2). Vol. 2. Anka Tıp Dergisi.
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Aysel KALAYCI YİĞİN,Tarık ALAY,Mehmet SEVEN. Nadir ve Atipik Bulgularla Seyreden Bir Smith-Magenis Sendromu Vakası. no. 46–49, Anka Tıp Dergisi, 2020.
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