ArticleF1000Research2017
Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p- and ring chromosome 18.
Article in F1000Research, 2017. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 5 papers.
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Who cites it
5 citing papers in PubMed, 6 citations in OpenAlex.
- Monosomy 18p with Unbalanced Translocation Between 13 and 18 Chromosomes: First Reported Case in Serbia.Diagnostics (Basel, Switzerland) · 2025Article
- Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms.Orphanet journal of rare diseases · 2024Review
- A case report of Ring chromosome 18 with systemic Lupus Erythematosus and Crohn's disease.Molecular biology reports · 2022Article
- Mosaic ring chromosome 18 in a Chinese child with epilepsy: a case report and review of the literature.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2021Review
- A Case of Ring Chromosome 18 with Single Umbilical Artery Detected During Prenatal Period.Molecular syndromology · 2020Article
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Authors and funding
4 authors at 2 institutions in 1 country.
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Abstract
Ring chromosome 18 has a highly variable phenotype, depending on the extent of distal arm deletions. It is most commonly presented as a combination of 18p- and distal 18q- syndrome. IgA deficiency and autoimmune diseases have been previously described in these patients. Seven cases of juvenile rheumatoid arthritis (JRA) have been reported. Here we report the first case of late onset rheumatoid arthritis (RA) in a 32 year old Dominican woman with hypothyroidism, vitiligo, IgA deficiency, interstitial lung disease (ILD), cystic bronchiectasis, and features consistent with ringed 18, 18p- and distal 18q syndrome. The multiple autoimmune findings in our patient lends further support to the idea of loci on chromosome 18 playing a role in autoimmune disease expression. Late onset RA and ILD in a patient with chromosome 18 abnormalities are novel findings and are additional conditions to be aware of in this population.
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