ArticleMolecular biology reports2022
A case report of Ring chromosome 18 with systemic Lupus Erythematosus and Crohn's disease.
Article in Molecular biology reports, 2022. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 2 papers.
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2 citing papers in PubMed, 5 citations in OpenAlex.
- Ring 18 chromosome associated with cleft palate: case report and comprehensive literature review of clinical symptoms.Orphanet journal of rare diseases · 2024Review
- Clinical and genomic profiling of a patient with a de novo ring chromosome 18: a case report highlighting autoimmune and neurological implications.Molecular cytogenetics · 2024Article
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Authors and funding
4 authors at 2 institutions in 1 country.
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No grant is acknowledged in the PubMed record.
Abstract
backgroundRing Chromosome 18 is a rare chromosomal disorder caused by missing pieces of one or both ends of chromosome 18. The clinical phenotype of the Ring 18 syndrome depended on the rate and the locality of genetic material lost. Here, we report a 27 years old girl with symptoms including microcephaly, mental and motor retardation, hypotonia, and autoimmune diseases consist of Rheumatoid arthritis, Systemic Lupus Erythematosus, and Crohn's disease. This research contributes to a better understanding of disease and can lead to improvement in diagnosis and treatment. METHOD AND
resultThe Chromosomal analysis was performed based on the GTG banding technique on peripheral blood lymphocytes. Karyotype analysis indicated the existence of a Ring chromosome 18 with deletions at 18p11.32 and18q22-2. Following that, the parental karyotype of the affected girl confirmed that Ring 18 was caused by a de novo mistake very early in embryonic development.
conclusionRing chromosome 18 is a rare chromosomal disorder that is generally caused by de novo errors very early in the development of the embryo. Previously studies have reported a relationship between autoimmune diseases and Ring 18. Our patient has disclosed specific types of autoimmune diseases, including Systemic Lupus Erythematosus, and Crohn's disease.
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