Tina Rezaeizadeh1, Encieh Delshad2, Nader Mansour Samaei1,3, Naghmeh Gholipour1. 1. Department of Cytogenetics, Genome Genetics Laboratory, Gorgān, Golestan, Iran. 2. Department of Cytogenetics, Genome Genetics Laboratory, Gorgān, Golestan, Iran. nc.delshad93@gmail.com. 3. Department of Human Genetics, Faculty of Advanced Medical Technologies, Golestan University of Medical Sciences, Gorgān, Iran.
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.
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.
Authors: Nina Jain; Pamela J Reitnauer; Kathleen W Rao; Arthur S Aylsworth; Ali S Calikoglu Journal: J Pediatr Endocrinol Metab Date: 2011 Impact factor: 1.634
Authors: Abbey L Mello; Patricia L Crotwell; Jason D Flanagan; Amelia R Woltanski; Laura Davis Keppen; Peter Van Eerden; Jeffrey G Boyle; Quinn Stein Journal: S D Med Date: 2008-09