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September 10, 2024

[Comprehensive diagnosis and genetic analysis of two children with ring chromosome 18].

Zhe Ding Shiyue Mei Bo Zhang Jinghui Kong Lei Liu Zhenhua Zhang Chaojie Wang Yaodong Zhang

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Abstract

To clarify the genetic diagnosis of two children with ring chromosome 18 and explore their mechanisms and clinical phenotypes.

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Cite This Study

Ding et al. (2024) studied this question.

synapsesocial.com/papers/68e58ed3b6db64358752a23c https://doi.org/10.3760/cma.j.cn511374-20230626-00389

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Synapse has enriched 5 closely related papers on similar clinical questions. Consider them for comparative context:

1Ring 18 molecular assessment and clinical consequencesCase Report · 2014 · 52 citations
2A Rare Case Of Ring Chromosome 182024
3Constitutional Ring Chromosomes in Greek Pediatric Patients: A 50-year Single-center Cytogenetic StudyGenetic Association Study · 2026
4Continuing role for classical cytogenetics: Case report of a boy with ring syndrome caused by complete ring chromosome 4 and review of literatureGenetic Association Study · 2017 · 39 citations
5Ring chromosomes uncovered by optical genome mapping: impact of telomeric-associated regions and reference genome selection on structural variant interpretationOriginal Research · 2026

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