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Journals / Erciyes Tıp Dergisi / 2014 / Cilt: 36 - Sayı: 4

Karışık gonadal disgenezisi olan bir hastada mozaik izodisentrik Y kromozomu

Mosaic isodicentric Y chromosome in a patient with mixed gonadal dysgenesis

Bilgin YÜKSEL
Zerrin YILMAZ
Feride İffet ŞAHİN
Özge ÖZER
Pages
177–180
Publication Date
2022-10-17
DOI
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AI Summary & Key Takeaways

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

Our fndings emphasize the importance of the use of a combinationof cytogenetic and molecular genetics techniques during characterization of a patient with a derivative Y chromosome before anygeneral conclusions can be reached concerning the relative effects of the Y chromosome abnormality and mosaicism on sexualdifferentiation.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Here, we report a male with mixed gonadal dysgenesis and a mosaic karyotype, 45,X[49]/47,X,idic(Y) (q11.2)x2[4]/46,X,idic(Y)(q11.2)[47].
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Key Findings & Data:We used fuorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) to determine the structuralrearrangement and genetic content of the Y chromosome.
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Conclusion & Impact:Our fndings emphasize the importance of the use of a combinationof cytogenetic and molecular genetics techniques during characterization of a patient with a derivative Y chromosome before anygeneral conclusions can be reached concerning the relative effects of the Y chromosome abnormality and mosaicism on sexualdifferentiation.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Here, we report a male with mixed gonadal dysgenesis and a mosaic karyotype, 45,X[49]/47,X,idic(Y) (q11.2)x2[4]/46,X,idic(Y)(q11.2)[47]. We used fuorescence in situ hybridization (FISH) and polymerase chain reaction (PCR) to determine the structuralrearrangement and genetic content of the Y chromosome. Our fndings emphasize the importance of the use of a combinationof cytogenetic and molecular genetics techniques during characterization of a patient with a derivative Y chromosome before anygeneral conclusions can be reached concerning the relative effects of the Y chromosome abnormality and mosaicism on sexualdifferentiation.

Özet

Burada, karışık gonadal disgenezisi ve bir mozaik karyotipi, 45, X [49]/47, X, idic(Y) (q11.2)x2[4]/46, X, idic(Y)(q11.2)[47], olan bir erkek rapor etmekteyiz. Y kromozomunun genetik içeriğini ve yapısal yeniden düzenlenmesini saptamak için floresan in situ hibridizasyon (FISH) ve polimeraz zincir reaksiyonu (PCR) kullandık. Bulgularımız, Y kromozom anomalisinin ve mozaizmin cinsel farklılaşma üzerine kısmi etkileri ile ilişkili olarak ulaşılabilecek herhangi bir genel sonuçtan önce Y kromozomu türevi olan bir hastanın karakterizasyonu sırasında sitogenetik ve moleküler genetik tekniklerin bir arada kullanımının önemini vurgulamaktadır.

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Cite This Article

YÜKSEL, B., YILMAZ, Z., ŞAHİN, F. İ., ÖZER, Ö. (2022). Karışık gonadal disgenezisi olan bir hastada mozaik izodisentrik Y kromozomu. Erciyes Tıp Dergisi, Cilt: 36 - Sayı: 4, 177–180. https://ajindex.com/articles/502349

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