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Journals / Gülhane Tıp Dergisi / 2003 / Cilt: 45 - Sayı: 4

Familial pericentric inversion: inv(4)(p16q12)

İki ayrı ailede perisentrik inversiyon: inv(4)(p16q12)

Filiz BAL
Füsun DÜZCAN
Münevver ATMACA
Ayşe BALCI
Pages
376–378
DOI
—
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AI Summary & Key Takeaways

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

The relation-ship between pericentric inversion carriage and consecutive abortions, and the importance of genetic counseling are discussed by the help of these two cases

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Generally pericentric inversions do not produce clinical abnormality.
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Key Findings & Data:The medical significance lies with the increased risk of generating unbalanced gametes.
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Conclusion & Impact:The relation-ship between pericentric inversion carriage and consecutive abortions, and the importance of genetic counseling are discussed by the help of these two cases
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Karyotipleme · İnversiyon · kromozom

Abstract

Generally pericentric inversions do not produce clinical abnormality. The medical significance lies with the increased risk of generating unbalanced gametes. In our study we present two familial pericentric inversion cases with consecutive first trimester pregnancy losses and congenital malformations. The relation-ship between pericentric inversion carriage and consecutive abortions, and the importance of genetic counseling are discussed by the help of these two cases

Özet

Perisentrik inversiyonların genellikle anormal fenotipik etkisi yoktur. Ancak dengesiz gamet üretme olasılığının artmış olması, taşıyıcı bireylere anormal çocuk sahibi olma riski getirmektedir. Burada anomalili çocuk öyküsü ve tekrarlayan gebelik kayıpları nedeniyle incelenen iki olguda, saptanan ailesel perisentrik inversiyon İnv(4)(p16q12) sunulmaktadır. Bu iki olgu kapsamında perisentrik inversiyon taşıyıcılığı ile tekrarlayan gebelik kayıplarının ilişkisi ve genetik danışma açısından önemi tartışılmaktadır.

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Cite This Article

BAL, F., DÜZCAN, F., ATMACA, M., BALCI, A. (2003). Familial pericentric inversion: inv(4)(p16q12). Gülhane Tıp Dergisi, Cilt: 45 - Sayı: 4, 376–378. https://ajindex.com/articles/225783

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References (4)

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