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

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Journal of Contemporary Medicine
Volume:14 Issue: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 : 99 | Download : 88

Publication Date : 2024-03-28

Article Type : Other Papers

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

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