- Journal of Contemporary Medicine
- Cilt: 14 Sayı: 2
- Copy Number Alterations Associated with Schinzel-Giedion Syndrome: Case Report
Copy Number Alterations Associated with Schinzel-Giedion Syndrome: Case Report
Authors : Elif Sena Ozcan, Gulam Hekimoğlu, Sevim Yener, Nurullah Yücel
Pages : 106-108
Doi:10.16899/jcm.1439851
View : 63 | Download : 79
Publication Date : 2024-03-28
Article Type : Other
Abstract :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.Keywords : Schinzel-Giedion sendromu, olgu sunumu, 2q35-q37 duplikasyonu, 4q34.1 duplikasyonu, 9p24.3-24.1 delesyonu