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AI Summary & Key Takeaways
AI Insight⚡ TL;DR(Too Long; Didn't Read)
We compared our patient's manifestations to those associated with the 18q- syndrome phenotype.
📌 3 Key Takeaways
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Objective & Hypothesis:In this study, we reported an infant with some manifestations of 18q- syndrome.
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Key Findings & Data:Cytogenetic analysis revealed a deletion at 18q21.3.
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Conclusion & Impact:We compared our patient's manifestations to those associated with the 18q- syndrome phenotype.
🔬Design:Research Article
📍Scope:Comprehensive Sample
⚙️Variables:Domain Parameters
Abstract
In this study, we reported an infant with some manifestations of 18q- syndrome. Cytogenetic analysis revealed a deletion at 18q21.3. The patient had varying degrees of typical clinical findings associated with the 18q- syndrome. This variability in clinical findings could be correlated with size of the deletion. This pattern of delayed myelination related to the gene for myelin basic protein has been localized to the distal end of the long arm of chromosome 18. The genitourinary abnormality appears to have the congenital circumcision on our patient. We compared our patient's manifestations to those associated with the 18q- syndrome phenotype.
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Cite This Article
DEMİRHAN, O., SÜLEYMANOVA, D. (2022). Analysis of clinical variation seen in a patient with 18q terminal deletion. Annals of Medical Sciences, Cilt: 11 - Sayı: 2-3-4, 66–68. https://ajindex.com/articles/447428