Department of Cytogenetics, Genome Genetics Laboratory, Gorgān, Golestan, Iran.
Department of Human Genetics, Faculty of Advanced Medical Technologies, Golestan University of Medical Sciences, Gorgān, Iran.
Mol Biol Rep. 2022 Feb;49(2):1085-1088. doi: 10.1007/s11033-021-06933-6. Epub 2021 Nov 14.
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.
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.
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.
环状染色体 18 是一种罕见的染色体疾病，由染色体 18 的一条或两条末端缺失部分引起。环状 18 综合征的临床表型取决于遗传物质丢失的速度和位置。在这里，我们报告了一例 27 岁女性，其症状包括小头畸形、智力和运动发育迟缓、低张力和自身免疫性疾病，包括类风湿关节炎、系统性红斑狼疮和克罗恩病。本研究有助于更好地了解疾病，并能提高诊断和治疗水平。
采用外周血淋巴细胞 GTG 带技术进行染色体分析。核型分析表明存在环状染色体 18，18p11.32 和 18q22-2 缺失。随后，受影响女孩的父母核型证实，环状 18 是胚胎发育早期新发生的错误所致。
环状染色体 18 是一种罕见的染色体疾病，通常由胚胎发育早期的新发生错误引起。先前的研究报告了自身免疫性疾病与环状 18 之间的关系。我们的患者揭示了特定类型的自身免疫性疾病，包括系统性红斑狼疮和克罗恩病。
