Ring chromosome 20 syndrome
Ring Chromosome 20 Syndrome
Ring Chromosome 20 Syndrome (pronunciation: ring kroh-muh-sohm 20 sin-drohm), often abbreviated as r(20) syndrome, is a rare genetic disorder characterized by a variety of symptoms, most notably epilepsy. The syndrome is named for the abnormal formation of one of the 20th pair of chromosomes in the human body, which forms a ring-like structure.
Etymology
The term "Ring Chromosome 20 Syndrome" is derived from the distinctive chromosomal abnormality that characterizes this condition. In affected individuals, one of the two copies of chromosome 20 in each cell forms a ring (r), rather than the usual linear shape. The term "syndrome" is used to denote a group of symptoms that consistently occur together.
Symptoms
The most common symptom of r(20) syndrome is epilepsy, which can cause recurrent seizures. Other symptoms can include learning difficulties, behavioral problems, and subtle differences in facial features. However, the severity and range of symptoms can vary widely among affected individuals.
Causes
Ring Chromosome 20 Syndrome is caused by a specific genetic mutation. This mutation results in the formation of a ring chromosome 20, which can disrupt the normal function of genes located on this chromosome. The exact mechanism by which this leads to the symptoms of r(20) syndrome is not fully understood.
Diagnosis
Diagnosis of Ring Chromosome 20 Syndrome is typically made through genetic testing, which can identify the characteristic ring chromosome. This can be confirmed through a procedure known as karyotyping, which provides a visual representation of an individual's chromosomes.
Treatment
There is currently no cure for Ring Chromosome 20 Syndrome. Treatment is symptomatic and supportive, focusing on managing the individual symptoms of each affected person. This can include medications to control seizures, special education programs for learning difficulties, and behavioral therapy for behavioral problems.
See Also
External links
- Medical encyclopedia article on Ring chromosome 20 syndrome
- Wikipedia's article - Ring chromosome 20 syndrome
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