Abstract
Background
Ring 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 result
The 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.
Conclusion
Ring 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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References
Stankiewicz P et al (2001) Clinical and molecular-cytogenetic studies in seven patients with ring chromosome 18. Am J Med Genet 101(3):226–239
Koç A et al (2008) An unexpected finding in a child with neurological problems: mosaic ring chromosome 18. Eur J Pediatr 167(6):655–659
Chau A et al (2017) Rheumatoid arthritis in an adult patient with mosaic distal 18q-, 18p-and dicentric ring chromosome 18. F1000Research 6:1940
Lo-Castro A et al (2011) De novo mosaic ring chromosome 18 in a child with mental retardation, epilepsy and immunological problems. Eur J Med Genet 54(3):329–332
Mello AL et al (2008) Clinical course of a 20-month-old child diagnosed prenatally with mosaic ring chromosome 18 and monosomy 18. S D Med 61:327
Bagherizadeh E et al (2011) Prenatal diagnosis in a mentally retarded woman with mosaic ring chromosome 18. Indian J Hum Genet 17(2):111
Jain N et al (2011) Autoimmune polyendocrinopathy associated with ring chromosome 18. J Pediatr Endocrinol Metab 24:847
Yanoff M, Rorke LB, Niederer BS (1970) Ocular and cerebral abnormalities in chromosome 18 deletion defect. Am J Ophthalmol 70(3):391–402
Knijnenburg J et al (2007) Ring chromosome formation as a novel escape mechanism in patients with inverted duplication and terminal deletion. Eur J Hum Genet 15(5):548–555
Caba L et al (2012) Ring autosomes: some unexpected findings. Balkan J Med Genet 15(2):35–46
Gold SL et al (2018) Perianal fistulas in patients with Crohn’s disease, Part 2: surgical, endoscopic, and future therapies. Gastroenterol Hepatol 14(9):521
Yao H et al (2016) Breakpoints and deleted genes identification of ring chromosome 18 in a Chinese girl by whole-genome low-coverage sequencing: a case report study. BMC Med Genet 17(1):1–6
Lammert DB et al (2019) Central and peripheral dysmyelination in a 3-year-old girl with ring chromosome 18. Clin Case Rep 7(11):2087–2091
Heydari S, Hassanzadeh F, Nazarabadi MH (2014) Ring chromosome 18: a case report. Int J Mol Cell Med 3(4):287
Acknowledgements
I would like to express my special appreciation to Dr.Nader Mansour Samaei as a laboratory technician for his guidance about this study.
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Contributions
All authors contributed to the study's conception and design. Cell culture and G-banding technique for karyotype and writing—original draft preparation were performed by TR. Chromosome analysis, writing- review and, editing were performed by ED. Review and English language editing were carried out by Dr. NMS. Financial support and supervision were performed by Dr. NG. All authors read and approved the final manuscript.
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The authors have no financial conflicts of interest.
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Informed consent was obtained from the parents of the patient to report this chromosomal abnormality. All authors have consented to the submission and publication of the case report in the journal.
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Rezaeizadeh, T., Delshad, E., Mansour Samaei, N. et al. A case report of Ring chromosome 18 with systemic Lupus Erythematosus and Crohn’s disease. Mol Biol Rep 49, 1085–1088 (2022). https://doi.org/10.1007/s11033-021-06933-6
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DOI: https://doi.org/10.1007/s11033-021-06933-6