Article

Clinical and genomic profiling of a patient with a de novo ring chromosome 18: A case report highlighting autoimmune and neurological implications

2024-11-13

Abstract excerpt

<title>Abstract</title> <p>Ring chromosome 18 (r(18)) is a rare chromosomal abnormality characterized by the circular rearrangement of chromosome 18, which presents significant challenges in genotype-phenotype correlations due to the variability in deletions across the 18p and 18q arms. We report the case of a pediatric patient with a <italic>de novo</italic> ring chromosome 18, diagnosed through karyotype and co...

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Literature Corpus work: 30d9b062-a55e-5be3-b6f7-3525ac1c0781
DOI: 10.21203/rs.3.rs-5303496/v1

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