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- W3090273003 abstract "Potocki Lupski ve Smith Magenis sendromları insan 17. kromozom kısa kolu (11.2 bandı) ile ilişkili sendromlardır. Bu bölgenin duplikasyonu Potocki Lupski, delesyonu ise Simth Magenis sendromu olarak tanımlanmaktadır. Çocukluk çağında nadir görülen bu hastalıkların tipik fenotipik özellikleri olsa da tanı ileri genetik analizlerle konulmaktadır. Bu makalede nörolojik gelişimsel gerilik başta olmak üzere bu iki sendromun neden olduğu diğer nörolojik komplikasyonları belirtmeyi ve pediyatri klinisyenlerinin bu sendromlara dikkatini çekmeyi amaçladık. Potocki Lupski and Smith Magenis syndromes are associated with the human 17th chromosome short arm (11.2 band). Duplication of this region is defined as Potocki Lupski syndrome, and its deletion is defined as Smith Magenis syndrome. Although these diseases, which are rare in childhood, have typical phenotypic features, the diagnosis is made with advanced genetic analysis. In this article, we aimed to point out especially neurological developmental delay and other neurological complications caused by these two syndromes and draw the attention of pediatric clinicians to these syndromes." @default.
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- W3090273003 date "2020-09-15" @default.
- W3090273003 modified "2023-10-18" @default.
- W3090273003 title "Bıçağın İki Yüzü: Kromozom 17p11.2 Delesyon ve Duplikasyon Sendromları" @default.
- W3090273003 doi "https://doi.org/10.20515/otd.755935" @default.
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