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Journals / Şişli Etfal Hastanesi Tıp Bülteni / 2013 / Cilt: 47 - Sayı: 2

A woman with balanced ROB translocation (14;21): case report

Dengeli ROB translokasyonu (14;21) olan bir kadın: Olgu sunumu

Ali KARAMAN
PAŞA ULUĞ
Pages
87–90
DOI
—
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AI Summary & Key Takeaways

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

The karyotypes of the father was normal (46,XY).

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Cytogenetic studies have revealed more number of females in spontaneous abortion.
📊
Key Findings & Data:In this study, the clinical feature of the rob(14;21)(q10;q10) with mother is presented based on the literature.
💡
Conclusion & Impact:The karyotypes of the father was normal (46,XY).
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Cytogenetic studies have revealed more number of females in spontaneous abortion. Family history, analysis of pedigree, and karyotypes of the parents are the basic factors at estimating the risks. In this study, the clinical feature of the rob(14;21)(q10;q10) with mother is presented based on the literature. Family members were sent to laboratory of medical genetics because of habitual abortus. Conventional cytogenetic techniques were performed for these patients. The karyotype of the mother was found as 45,XX, rob(14;21)(q10q10). The karyotypes of the father was normal (46,XY).

Özet

Sitogenetik çalışmalar, spontan abortusda çok sayıda kadında açıklayıcı özelliğe sahiptir. Aile hikaye- si, pedigri analizi ve parental karyotipler risk tahmininde temel faktörlerdir. Bu çalışmada, rob(14;21) (q10;q10) olan bir annenin klinik özeliği literatür bilgileri ışığında sunulmuştur. Habituel abortus sebebiyle laboratuarımıza gönderilen bir ailenin, konvansiyonel sitogenetik tekniklerle incelemeleri yapıldı. Sitogenetik analiz sonucunda annenin karyotipi 45,XX, rob(14;21)(q10;q10) olarak tespit edildi. Babanın karyotipi normal idi (46,XY).

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Cite This Article

KARAMAN, A., ULUĞ, P. (2013). A woman with balanced ROB translocation (14;21): case report. Şişli Etfal Hastanesi Tıp Bülteni, Cilt: 47 - Sayı: 2, 87–90. https://ajindex.com/articles/363790

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