Ring chromosome 18

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Ring Chromosome 18

Ring Chromosome 18 (pronunciation: ring kroh-muh-sohm 18) is a rare genetic disorder that is characterized by the formation of a ring-shaped chromosome, specifically chromosome 18.

Etymology

The term "Ring Chromosome 18" is derived from the unique ring-like structure of the affected chromosome. The number "18" refers to the specific chromosome that is affected.

Description

In a typical human cell, there are 23 pairs of chromosomes. Each chromosome is a long, linear DNA molecule associated with various proteins. In individuals with Ring Chromosome 18, one of the 18th chromosomes forms a ring-like structure, which can lead to various physical and developmental abnormalities.

Symptoms

Symptoms of Ring Chromosome 18 can vary widely among affected individuals. Common symptoms include growth retardation, intellectual disability, and distinctive facial features such as a prominent forehead, widely spaced eyes, and a small jaw. Some individuals may also have heart defects, kidney abnormalities, and other health problems.

Causes

Ring Chromosome 18 is caused by a genetic mutation that occurs spontaneously in early embryonic development. This mutation results in the formation of a ring-shaped chromosome 18. The exact reason why this mutation occurs is not known.

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