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Journals / Bakırköy Tıp Dergisi / 2007 / Cilt: 3 - Sayı: 1

Multiple congenital abnormalities and de novo t (3; 4) (p13; p14) translocation: Case report

Multipl konjenital anomali ve de novo t (3; 4) (p13; p14) translokasyonu: Olgu sunumu

Abdülkadir BOZAYKUT
Lale Purat SEREN
İlke İPEK
Gönül SEZER
Nilüfer TUNÇ
Pages
37–39
DOI
—
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AI Summary & Key Takeaways

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

Once the chromosome analysis is complete, not only the prognosis can be better defined, but the information acquired may also be used to provide risk estimates for chromosomal abnormalities in future pregnancies of the parents of the affected infant and for other relatives.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Chromosomal abnormalities account for a significant percentage of congenital malformations in the neonate.
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Key Findings & Data:Cytogenetic analysis revealed a karyotype of 46, XY, t (3; 4) (p13; p14) translocation.
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Conclusion & Impact:Once the chromosome analysis is complete, not only the prognosis can be better defined, but the information acquired may also be used to provide risk estimates for chromosomal abnormalities in future pregnancies of the parents of the affected infant and for other relatives.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Seyir · Translokasyon · genetik

Abstract

Chromosomal abnormalities account for a significant percentage of congenital malformations in the neonate. Here we report a male newborn that had cystic hygroma associated with dysmorphic features which were not accounted for a clinically recognizable dysmorphic syndrome. Cytogenetic analysis revealed a karyotype of 46, XY, t (3; 4) (p13; p14) translocation. Once the chromosome analysis is complete, not only the prognosis can be better defined, but the information acquired may also be used to provide risk estimates for chromosomal abnormalities in future pregnancies of the parents of the affected infant and for other relatives.

Özet

Yenidoğan dönemindeki konjenital malformasyonların önemli bir yüzdesini kromozomal anomaliler oluşturur. Bu yazıda dismorfik bulgularla kistik higroma birlikteliği olan, bilinen bir dismorfik sendromla açıklanamayan, bir erkek yenidoğan sunulmaktadır. Hastanın sitogenetik analizinde karyotipi 46, XY, t (3; 4) (p13; p14) olarak saptanmıştır. Kromozom analizi sonucu prognoz belirlenebilir, etkilenen çocuğun ebeveynlerinin ve diğer akrabalarının sonraki gebeliklerine ait muhtemel risk de tanımlanabilir.

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Cite This Article

BOZAYKUT, A., SEREN, L. P., İPEK, İ., SEZER, G., TUNÇ, N. (2007). Multiple congenital abnormalities and de novo t (3; 4) (p13; p14) translocation: Case report. Bakırköy Tıp Dergisi, Cilt: 3 - Sayı: 1, 37–39. https://ajindex.com/articles/133096

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