Chromosome 15q duplication is a chromosome abnormality that occurs when an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 is present in each cell. The severity of the condition and the associated signs and symptoms vary based on the size and location of the duplication and which genes are involved. Common features shared by many people with this duplication include developmental delay; intellectual disability; hypotonia (low muscle tone); seizures; high and/or cleft palate (roof of the mouth); scoliosis; slow growth; communication difficulties; behavioral problems; and distinctive facial features. Most cases are not inherited, although affected people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.

People with chromosome 15q duplication have an extra (duplicate) copy of the genetic material located on the long arm (q) of chromosome 15 in each cell. The features associated with the condition vary significantly from person to person depending on the size and location of the duplication and which genes are involved. In many cases, this duplication occurs sporadically as a random event when the egg or the sperm is made. There is nothing that a person can do to cause or prevent this duplication from happening.

Occasionally, this duplication is passed down from parent to child. However, the symptoms and severity can vary significantly between family members and in some cases, the parent may have no obvious features of the condition.

Please speak to your healthcare provider if you have any questions about your personal medical management plan.

The long-term outlook (prognosis) for people with chromosome 15q duplication varies from person to person. The severity of the condition and the associated signs and symptoms largely depend on the size and location of the duplication and the genes involved.