Schinzel-Giedion Sendromu ile İlişkili Kopya Sayısı Değişiklikleri: Olgu Sunumu

Öz

Schinzel-Giedion sendromu (SGS), ciddi zihinsel gerilik, belirgin yüz özellikleri, çoklu konjenital malformasyonlar ve yüksek düzeyde nörolojik defisitlerle karakterize, oldukça tanınabilir bir sendromdur. SGS'yi anlamak, özelleştirilmiş tıbbi tedavi, genetik danışmanlık ve gelişimsel sorun araştırmalarını ilerletmek için gereklidir. Anlayışın artması, etkilenen kişilere ve ailelerine daha iyi yardım sağlanmasını sağlar ve bu da genel olarak sonuçları iyileştirir. Bu çalışmada 2q35-q37 duplikasyonu, 4q34.1 duplikasyonu ve 9p24.3-24.1 delesyonu ile ilişkili bir SGS olgusu sunulmaktadır. ​

Anahtar Kelimeler

• Schinzel-Giedion sendromu
• olgu sunumu
• 2q35-q37 duplikasyonu
• 4q34.1 duplikasyonu
• 9p24.3-24.1 delesyonu

Copy Number Alterations Associated with Schinzel-Giedion Syndrome: Case Report

Öz

Schinzel-Giedion syndrome (SGS) is a highly recognizable syndrome characterized by severe mental retardation, distinctive facial features, multiple congenital malformations, and higher-level neurological deficits. Comprehending SGS is essential for customized medical treatment, genetic counseling, and furthering developmental problem research. Enhanced understanding leads to better assistance for impacted people and their families, which improves results overall. In this study, we present a case of SGS associated with 2q35-q37 duplication, 4q34.1 duplication, and 9p24.3-24.1 deletion.

Anahtar Kelimeler

• Schinzel-Giedion syndrome
• case report
• 2q35-q37 duplication
• 4q34.1 duplication
• 9p24.3-24.1 deletion

Kaynakça

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