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

Objective & Hypothesis: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.

📊

Key Findings & Data:Comprehending SGS is essential for customized medical treatment, genetic counseling, and furthering developmental problem research.

💡

Conclusion & Impact:Enhanced understanding leads to better assistance for impacted people and their families, which improves results overall.

🔬Design:Text.Serial.Journal

📍Scope:Comprehensive Sample

⚙️Variables:Schinzel-Giedion sendromu · olgu sunumu · 2q35-q37 duplikasyonu

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.

Özet

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.

Keywords

Schinzel-Giedion sendromu olgu sunumu 2q35-q37 duplikasyonu 4q34.1 duplikasyonu 9p24.3-24.1 delesyonu Schinzel-Giedion syndrome case report 2q35-q37 duplication 4q34.1 duplication 9p24.3-24.1 deletion

🔖

Cite This Article

Ozcan, E. S., Hekimoğlu, G., Yener, S., Yücel, N. (2024). Copy Number Alterations Associated with Schinzel-Giedion Syndrome: Case Report. Journal of Contemporary Medicine, Cilt: 14 Sayı: 2, 106–108. https://doi.org/10.16899/jcm.1439851

📄 Full Text PDF Viewer

Open in New Tab ↗

↗New Tab

📄

PDF görüntüleyici hazırlanıyor...

References (10)

Hoischen A, van Bon BW, Gilissen C, Arts P, van Lier B, Steehouwer M, et al. De novo mutations of SETBP1 cause Schinzel-Giedion syndrome. Nat Genet. 2010; 42(6): 483-485
Lehman AM, McFadden D, Pugash D, Sangha K, Gibson WT, Patel MS. Schinzel–Giedion syndrome: Report of splenopancreatic fusion and proposed diagnostic criteria. Am J Med Genet Part A. 2008; 146(10): 1299-1306
Minn D, Christmann D, De Saint‐Martin A, Alembik Y, Eliot M, Mack G, et al. Further clinical and sensorial delineation of Schinzel‐Giedion syndrome: Report of two cases. Am J Med Genet. 2002; 109(3): 211-217
Ronzoni L, Peron A, Bianchi V, Baccarin M, Guerneri S, Silipigni R, et al. Molecular cytogenetic characterization of a 2q35‐q37 duplication and a 4q35. 1‐q35. 2 deletions in two cousins: A genotype–phenotype analysis. Am J Med Genet Part A. 2015; 167(7): 1551-1559
Güneş S, Ekinci Ö, Ekinci N, Toros F. Coexistence of 9p deletion syndrome and autism spectrum disorder. J Autism Dev Disord. 2017; 47: 520-521
Otsuka T, Fujinaka H, Imamura M, Tanaka Y, Hayakawa H, Tomizawa S. Duplication of chromosome 4q: renal pathology of two siblings. Am J Med Genet Part A. 2005; 134(3): 330-333
Hermsen MA, Tijssen M, Acero IH, Meijer GA, Ylstra B, Toral JF. High resolution microarray CGH and MLPA analysis for improved genotype/phenotype evaluation of two childhood genetic disorder cases: ring chromosome 19 and partial duplication 2q. Eur J Med Genet. 2005; 48(3): 310-318
Bird LM, Mascarello JT. Chromosome 2q duplications: case report of a de novo interstitial duplication and review of the literature. Am J Med Genet 2001; 100(1): 13-24
Takeuchi A, Okamoto N, Fujinaga S, Morita H, Shimizu J, Akiyama T, et al. Progressive brain atrophy in Schinzel–Giedion syndrome with a SETBP1 mutation. Eur J Med Genet. 2015; 58(8): 369-371
Onesimo R, Orteschi D, Scalzone M, Rossodivita A, Nanni L, Zannoni GF, et al. Chromosome 9p deletion syndrome and sex reversal: novel findings and redefinition of the critically deleted regions. Am J Med Genet Part A. 2012; 158(9): 2266-2271.