Potocki-Lupski sendromu Smith-Magenis sendromu çocuk nörolojik gelişimsel gerilik
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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.
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Birincil Dil | Türkçe |
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Konular | Sağlık Kurumları Yönetimi |
Bölüm | OLGU SUNUMLARI / CASE REPORTS |
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Proje Numarası | yoktur |
Yayımlanma Tarihi | 13 Eylül 2021 |
Yayımlandığı Sayı | Yıl 2021 Cilt: 43 Sayı: 5 |