Abstract
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
References
- 1. 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.
- 2. 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.
- 3. 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.
- 4. 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.
- 5. 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.
- 6. 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.
- 7. 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.
- 8. 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.
- 9. 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.
- 10. 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.
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 syndrome case report 2q35-q37 duplication 4q34.1 duplication 9p24.3-24.1 deletion
References
- 1. 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.
- 2. 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.
- 3. 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.
- 4. 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.
- 5. 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.
- 6. 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.
- 7. 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.
- 8. 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.
- 9. 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.
- 10. 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.
Details
| Primary Language | English |
|---|---|
| Subjects | Pediatric Urology |
| Journal Section | Case Report |
| Authors | |
| Publication Date | March 28, 2024 |
| Submission Date | February 19, 2024 |
| Acceptance Date | March 27, 2024 |
| Published in Issue | Year 2024 Volume: 14 Issue: 2 |
