A Rare Case Of Ring Chromosome 18

Abstract

Ring chromosome is an exceptionally rare condition wherein the ends of the chromosome break and result in abnormal fusion of the chromosome. This loss in genetic material results in abnormal growth and development in a child and can result in multi system involvement and dysfunction. Herein we report a case of a 12 year old female child who was brought with complaints of significant developmental delay in all domains when upon further investigation revealed a chromosomal abnormality: 46, XX, r(18)(11.3q 23), indicative of a ring chromosome 18 abnormality.