Ring chromosome 15

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Ring Chromosome 15

Ring chromosome 15 (ring kroh-muh-sohm fihf-teen) is a rare chromosomal abnormality in which chromosome 15 forms a ring due to deletions in the short (p) and long (q) arms of the chromosome. This condition is characterized by various developmental delays, intellectual disability, and physical abnormalities.

Etymology

The term "ring chromosome" is derived from the ring-like structure that the chromosome forms due to deletions at both ends. The number "15" refers to the specific chromosome that is affected.

Symptoms and Signs

Individuals with ring chromosome 15 often exhibit growth retardation, microcephaly (small head size), hypotonia (low muscle tone), and intellectual disability. Other features can include epilepsy, autism, and distinctive facial features such as a prominent forehead, deep-set eyes, and a thin upper lip.

Causes

Ring chromosome 15 is caused by sporadic mutations, meaning they occur randomly and are not inherited from parents. The ring formation is a result of breakages occurring at both ends of chromosome 15, followed by fusion of the broken ends.

Diagnosis

Diagnosis of ring chromosome 15 is typically made through genetic testing, specifically karyotyping, which can visualize the structure of the chromosomes.

Treatment

There is no cure for ring chromosome 15. Treatment is symptomatic and supportive, often involving a team of specialists to address the various physical and developmental issues.

Related Terms

External links

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