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Journals / GORM:Gynecology Obstetrics & Reproductive Medicine / 2008 / Cilt: 14 - Sayı: 2

Prenatal tespit edilen mozaik trizomi 8: Olgu sunumu

Prenatal diagnosis of trisomy 8 mosaicism: A case report

Miğraci TOSUN
Eren ENSARİ
Erdal MALATYALIOĞLU
Mehmet B. ÇETİNKAYA
Fatma EKİCİ
Gönül OĞUR
Pages
110–112
DOI
—
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AI Summary & Key Takeaways

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

This karyotypic anomaly was subsequently confirmed by fetal blood sampling as well.

📌 3 Key Takeaways

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Objective & Hypothesis:In this report we present a case of partial trisomy 8 referred to our clinic initially due to ultrasonographic finding of lateral ventricular dilatation.
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Key Findings & Data:The detailed ultrasound scan at 26 weeks’ gestation demonstrated agenesis of corpus callosum and bilateral hidronephrosis in fetus.
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Conclusion & Impact:This karyotypic anomaly was subsequently confirmed by fetal blood sampling as well.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

In this report we present a case of partial trisomy 8 referred to our clinic initially due to ultrasonographic finding of lateral ventricular dilatation. The detailed ultrasound scan at 26 weeks’ gestation demonstrated agenesis of corpus callosum and bilateral hidronephrosis in fetus. Later amniocentesis and fetal blood sampling were performed. The case of mosaicisim for partial trisomy 8 was detected in cultured amniotic fluid cells. This karyotypic anomaly was subsequently confirmed by fetal blood sampling as well.

Özet

Bu vaka sunumunda, ultrason ile tespit edilen lateral ventrikül genişliği nedeniyle kliniğimize sevk edilen parsiyel trizomi 8 vakası sunulmuştur. 26'ıncı gebelik haftasında yapılan ayrıntılı ultrasonografi, fetusda korpus kallosum agenezisi ve bilateral hidronefroz göstermiştir. Ardından amniosentez ve fetal kan örneklemesi yapılmıştır. Amniotik sıvı kültüründen elde edilen hücrelerde trizomi 8 mozaizmi tespit edilmiştir. Bu karyotipik anormallik amniotik sıvı kültürünün ardından fetal kan örneğinde teyid edilmiştir.

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Cite This Article

TOSUN, M., ENSARİ, E., MALATYALIOĞLU, E., ÇETİNKAYA, M. B., EKİCİ, F., OĞUR, G. (2008). Prenatal tespit edilen mozaik trizomi 8: Olgu sunumu. GORM:Gynecology Obstetrics & Reproductive Medicine, Cilt: 14 - Sayı: 2, 110–112. https://ajindex.com/articles/227113

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References (1)

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