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Journals / Erciyes Tıp Dergisi / 2004 / Cilt: 26 - Sayı: 3

A case of Zellweger syndrome with clonal 46, XX, t(1;2) (q43;q21) cytogenetic abnormality

Klonal 46XX, t(1;2) (q43;q21) sitogenetik anomalisi ile karakterize Zellweger sendromu olgusu

Yusuf TUNCA
Filiz BAL
Şefik GÜRAN
Pages
145–148
Publication Date
2022-10-17
DOI
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AI Summary & Key Takeaways

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

Cleft plate, corpus callosum agenesis and renal cysts are among other remarkable findings.

📌 3 Key Takeaways

🎯
Objective & Hypothesis:Zellweger syndrome is usually a lethal disease with severe clinical, pathological and biochemical abnormalities, including a typical craniofacial dysmorphism and neuronal migration disturbances present at birth.
📊
Key Findings & Data:Here we present a 6 month-old child in a consanguineous family (second cousin marriage) with hypotonia, high forehead with flat facies and hepatomegaly findings.
💡
Conclusion & Impact:Cleft plate, corpus callosum agenesis and renal cysts are among other remarkable findings.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters

Abstract

Zellweger syndrome is usually a lethal disease with severe clinical, pathological and biochemical abnormalities, including a typical craniofacial dysmorphism and neuronal migration disturbances present at birth. Cytogenetic abnormalities, reported in Zellweger syndrome are very rare. Here we present a 6 month-old child in a consanguineous family (second cousin marriage) with hypotonia, high forehead with flat facies and hepatomegaly findings. Cleft plate, corpus callosum agenesis and renal cysts are among other remarkable findings.

Özet

Zellweger sendromu tipik kafa ve yüz görünümü, sinir sistemi anomalileri ile karekterize ciddi klinik, patolojik ve biyokimyasal bozukluklar saptanan ölümcül bir hastalıktır. Olgularda tanımlanan sitogenetik anomaliler çok azdır. Bu yazıda hipotoni, yüksek alın, basık yüz, hepatomegali tanımlanan aralarında II. derece kuzen evliliği olan bir ailenin 6 aylık ilk çocuğu sunulmaktadır. Olguda saptanan yarık damak, korpus kallozum agenezisi ve renal kist diğer önemli bulgulardır.

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Cite This Article

TUNCA, Y., BAL, F., GÜRAN, Ş. (2022). A case of Zellweger syndrome with clonal 46, XX, t(1;2) (q43;q21) cytogenetic abnormality. Erciyes Tıp Dergisi, Cilt: 26 - Sayı: 3, 145–148. https://ajindex.com/articles/502846

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