/partial duplication of the long arm of chromosome 2

partial duplication of the long arm of chromosome 2

Rare Disease

MONDO:0016953

Also Known As

partial duplication of chromosome 2qpartial duplication of the long arm of chromosome type 2partial trisomy of chromosome 2qpartial trisomy of the long arm of chromosome 22q duplication2q trisomyDuplication 2qchromosome 2q duplicationpartial trisomy 2qtrisomy 2q

Definition

Chromosome 2q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the duplication and which genes are involved. Features that often occur in people with chromosome 2q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.