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Journals / Osmangazi Tıp Dergisi / 2026 / Cilt: 43 Sayı: 5

Two Sides of the Blade: Chromosome 17p11.2 Deletion and Duplication Syndromes

Bıçağın İki Yüzü: Kromozom 17p11.2 Delesyon ve Duplikasyon Sendromları

Turgay Çokyaman(ÇANAKKALE ONSEKİZ MART ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0002-7108-6839
Ülgen Özcan Erdem(ÇANAKKALE ONSEKİZ MART ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0003-0267-0051
Hakan Aylanç(ÇANAKKALE ONSEKİZ MART ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0002-8907-3809
Fatma Sılan(ÇANAKKALE ONSEKİZ MART ÜNİVERSİTESİ, TIP FAKÜLTESİ)0000-0001-7191-2240
Pages
536–540
Publication Date
2021-09-13
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AI Summary & Key Takeaways

AI Insight
⚡ TL;DR(Too Long; Didn't Read)

In this article, we aimed to point out especially neurological developmental delay and other neurological complications caused by these two syndromes and draw the attention of pediatric clinicians to these syndromes.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Potocki-Lupski and Smith-Magenis syndromes are associated with the human 17th chromosome short arm (11.2 band).
📊
Key Findings & Data:Duplication of this region is defined as Potocki-Lupski syndrome, and its deletion is defined as Smith-Magenis syndrome.
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Conclusion & Impact:In this article, we aimed to point out especially neurological developmental delay and other neurological complications caused by these two syndromes and draw the attention of pediatric clinicians to these syndromes.
🔬Design:Olgu Sunumu
📍Scope:Comprehensive Sample
⚙️Variables:Potocki-Lupski sendromu · Smith-Magenis sendromu · çocuk

Abstract

Potocki-Lupski and Smith-Magenis syndromes are associated with the human 17th chromosome short arm (11.2 band). Duplication of this region is defined as Potocki-Lupski syndrome, and its deletion is defined as Smith-Magenis syndrome. Although these diseases, which are rare in childhood, have typical phenotypic features, the diagnosis is made with advanced genetic analysis. In this article, we aimed to point out especially neurological developmental delay and other neurological complications caused by these two syndromes and draw the attention of pediatric clinicians to these syndromes.

Özet

Potocki Lupski ve Smith Magenis sendromları insan 17. kromozom kısa kolu (11.2 bandı) ile ilişkili sendromlardır. Bu bölgenin duplikasyonu Potocki Lupski, delesyonu ise Simth Magenis sendromu olarak tanımlanmaktadır. Çocukluk çağında nadir görülen bu hastalıkların tipik fenotipik özellikleri olsa da tanı ileri genetik analizlerle konulmaktadır. Bu makalede nörolojik gelişimsel gerilik başta olmak üzere bu iki sendromun neden olduğu diğer nörolojik komplikasyonları belirtmeyi ve pediyatri klinisyenlerinin bu sendromlara dikkatini çekmeyi amaçladık. Potocki Lupski and Smith Magenis syndromes are associated with the human 17th chromosome short arm (11.2 band). Duplication of this region is defined as Potocki Lupski syndrome, and its deletion is defined as Smith Magenis syndrome. Although these diseases, which are rare in childhood, have typical phenotypic features, the diagnosis is made with advanced genetic analysis. In this article, we aimed to point out especially neurological developmental delay and other neurological complications caused by these two syndromes and draw the attention of pediatric clinicians to these syndromes.

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Cite This Article

Çokyaman, T., Erdem, Ü. Ö., Sılan, F. (2021). Two Sides of the Blade: Chromosome 17p11.2 Deletion and Duplication Syndromes. Osmangazi Tıp Dergisi, Cilt: 43 Sayı: 5, 536–540. https://doi.org/10.20515/otd.755935

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References (9)

  1. Potocki L, Chen KS, Park SS, Osterholm DE, Withers MA, Kimonis V, et al. Molecular mechanism for duplication 17p11.2- the homologous recombination reciprocal of the Smith-Magenis microdeletion. Nat Genet 2000;24:84-87.
  2. Smith AC, McGavran L, Robinson J, Waldstein G, Macfarlane J, Zonona J, et al. Interstitial deletion of (17) (p11.2p11.2) in nine patients. Am J Med Genet 1986;24:393-414. 3. Slager RE, Newton TL, Vlangos CN, Finucane B, Elsea SH. Mutations in RAI1 associated with Smith-Magenis syndrome. Nat Genet 2003;33(4):466-8.
  3. Potocki L, Bi W, Treadwell-Deering D, Carvalho CM, Eifert A, Friedman EM, et al. Characterization of Potocki–Lupski syndrome (dup(17)(p11.2p11.2)) and delineation of a dosage-sensitive critical interval that can convey an autism phenotype. Am J Hum Genet 2007; 80:633-49.
  4. Neira-Fresneda J, Potocki L. Neurodevelopmental disorders associated with abnormal gene dosage: Smith-Magenis and Potocki-Lupski syndromes. J Pediatric Genet 2015;4(3);159-67.
  5. Elsea SH, Girirajan S. Smith-Magenis syndrome. Eur J Hum Genet 2008;16(4):412-21.
  6. Magoulas PL, Liu P, Gelowani V, Soler-Alfonso C, Kivuva EC, Lupski JR, et al. Inherited dup (17) (p11.2p11.2): expanding the phenotype of the Potocki-Lupski syndrome. Am J Med Genet 2014;164A(2):500-4.
  7. Cappuccio G, Vitiello F, Casertano A, Fontana P, Genesio R, Bruzzese D, et al. New insights in the interpretation of array-CGH: autism spectrum disorder and positive family history for intellectual disability predict the detection of pathogenic variants. Ital J Pediatr 2016;42:39.
  8. Lupski JR, Stankiewicz P. Genomic disorders: Molecular mechanisms for rearrangements and conveyed phenotypes. PLoS Genet 2005;1(6):e49. DOI:10.1371/journal.pgen.0010049. 10. Ricard G, Molina J, Chrast J, Gu W, Gheldof N, Pradervand S, et al. Phenotypic consequences of copy number variation: insights from Smith-Magenis and Potocki-Lupski syndrome mouse models. PLoS Biol 2010;8(11):e1000543. DOI:10.1371/journal.pbio.1000543.
  9. Zori RT, Lupski JR, Heju Z, Greenberg F, Killian JM, Gray BA, et al. Clinical, cytogenetic, and molecular evidence for an infant with Smith-Magenis syndrome born from a mother having a mosaic 17p11.2p12 deletion. Am J Med Genet 1993;47:504-11.