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

Yıl 2024, , 106 - 108, 28.03.2024
https://doi.org/10.16899/jcm.1439851

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.

Kaynakça

  • 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.

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

Yıl 2024, , 106 - 108, 28.03.2024
https://doi.org/10.16899/jcm.1439851

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.

Kaynakça

  • 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.
Toplam 10 adet kaynakça vardır.

Ayrıntılar

Birincil Dil İngilizce
Konular Çocuk Ürolojisi
Bölüm Olgu Sunumu
Yazarlar

Elif Sena Ozcan 0000-0002-4410-7622

Gulam Hekimoğlu 0000-0002-5027-6756

Sevim Yener 0000-0002-7327-8228

Nurullah Yücel 0000-0003-2689-4287

Yayımlanma Tarihi 28 Mart 2024
Gönderilme Tarihi 19 Şubat 2024
Kabul Tarihi 27 Mart 2024
Yayımlandığı Sayı Yıl 2024

Kaynak Göster

AMA Ozcan ES, Hekimoğlu G, Yener S, Yücel N. Copy Number Alterations Associated with Schinzel-Giedion Syndrome: Case Report. J Contemp Med. Mart 2024;14(2):106-108. doi:10.16899/jcm.1439851