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Journals / Adnan Menderes Üniversitesi Tıp Fakültesi Dergisi / 2009 / Cilt: 10 - Sayı: 1

Chromosome 1q duplication syndrome:A Rarely Case

1Q duplikasyon sendrom: Nadir bir olgu

Ayşegül BÜKÜLMEZ
Mustafa SOLAK
Reşit KÖKEN
Hamide MELEK
A. Sibel TUĞRAL
Pages
29–31
Publication Date
2022-10-10
DOI
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AI Summary & Key Takeaways

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

In this letter we reported a case with 1q duplication, who was accepted to the clinic with feeding intoleranse, finger deformities and multipl dysmorphical findings and an intestinal malrotation observed by explorative laparotomia.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:The abnormalities on the long arm of first chromosome are described as related with both structural genetical deformities and neoplastic diseases.
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Key Findings & Data:Partially trisomia 1q is rarely seen.
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Conclusion & Impact:In this letter we reported a case with 1q duplication, who was accepted to the clinic with feeding intoleranse, finger deformities and multipl dysmorphical findings and an intestinal malrotation observed by explorative laparotomia.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

The abnormalities on the long arm of first chromosome are described as related with both structural genetical deformities and neoplastic diseases. Partially trisomia 1q is rarely seen. Chromosome 1q duplication is accompanied by visseral organ anomalies, dismorphical findings and phsycomotor retardation. In this letter we reported a case with 1q duplication, who was accepted to the clinic with feeding intoleranse, finger deformities and multipl dysmorphical findings and an intestinal malrotation observed by explorative laparotomia.

Özet

Birinci kromozomun uzun kolundaki anormallikler hem yapısal genetik bozukluklarla hem de neoplastik hastalıklarla ilişkili bulunmuştur. Parsiyel trizomi 1q nadir gözlenir. Birinci kromozomun uzun kolundaki anormallikler hem yapısal genetik bozukluklarla hem de neoplastik hastalıklarla ilişkili bulunmuştur. 1. kromozomun uzun kolundaki anormallikler yapısal yeniden düzenlenme, çeşitli delesyonlar ve etkilenen kromozom kolunun yada bölgesinin aşırı amplifikasyonu ile karakterize olabilir Kromozom 1q duplikasyonu çok sayıda visseral organ anomolisi, dismorfik özellikler ve psikomotor retardasyon ile birliktedir Biz doğumunun 3. gününde beslenme intoleransı ve parmak anomolileri nedeni ile sevk edilen ve çok sayıda dismorfik özellikler ile birlikte eksploratif laparotomide intestinal malrotasyon saptanan 1q duplikasyonu olgusunu bildirdik.

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Cite This Article

BÜKÜLMEZ, A., SOLAK, M., KÖKEN, R., MELEK, H., TUĞRAL, A. S. (2022). Chromosome 1q duplication syndrome:A Rarely Case. Adnan Menderes Üniversitesi Tıp Fakültesi Dergisi, Cilt: 10 - Sayı: 1, 29–31. https://ajindex.com/articles/428959

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