Ring chromosome 22

Ring Chromosome 22

Ring Chromosome 22 (pronunciation: ring kroh-muh-sohm twen-tee-too) is a rare genetic condition caused by abnormalities in the 22nd chromosome.

Etymology

The term "Ring Chromosome 22" is derived from the appearance of the affected chromosome. Instead of the usual linear shape, the chromosome forms a ring-like structure.

Definition

Ring Chromosome 22 is a rare genetic disorder where the 22nd chromosome forms a ring-like structure, causing a variety of physical and developmental abnormalities. This condition is characterized by growth delays, mild to moderate intellectual disability, and distinctive facial features.

Symptoms

Symptoms of Ring Chromosome 22 can vary widely, but often include intellectual disability, seizures, speech delay, and behavioral problems. Some individuals may also have distinctive facial features such as a prominent forehead, underdeveloped midface, and a small mouth.

Causes

Ring Chromosome 22 is caused by a genetic mutation in the 22nd chromosome. This mutation results in the chromosome forming a ring-like structure, which can disrupt the normal function of the genes located on this chromosome.

Diagnosis

Diagnosis of Ring Chromosome 22 is typically made through genetic testing, which can identify the characteristic ring-like structure of the 22nd chromosome.

Treatment

There is currently no cure for Ring Chromosome 22. Treatment is focused on managing the symptoms and may include physical therapy, speech therapy, and behavioral therapy. Medication may also be used to manage seizures.

Related Terms

External links

Medical encyclopedia article on Ring chromosome 22
Wikipedia's article - Ring chromosome 22

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