Confirmed by karyotype analysis – Most patients with Ring 20 will not be identified by genomic tests.
Ring 20 syndrome, also known as ring chromosome 20 syndrome or r(20) syndrome, is a rare chromosomal disorder characterized by seizures, developmental delays, and other neurological and behavioral challenges. It is caused by a chromosomal abnormality where a piece of chromosome 20 becomes rearranged in the shape of a ring. This rearrangement can lead to various symptoms, including epilepsy that is often resistant to medication, intellectual disability, speech and language impairments, motor difficulties, and behavioral problems.
- Individuals with Ring 20 syndrome may experience different degrees of severity in their symptoms, and the condition can present itself differently from person to person. Diagnosis of Ring 20 syndrome is typically confirmed through genetic testing.
- Management of Ring 20 syndrome involves a multidisciplinary approach, including neurology, genetics, psychiatry, and other medical specialties, to address the various symptoms and provide appropriate support and treatment for individuals and their families.
- Because Ring 20 syndrome is rare, support networks and resources for affected individuals and their families are crucial for raising awareness, providing education, and facilitating access to necessary medical and therapeutic interventions.