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Partial duplication of the long arm of chromosome 2

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.

Also known as
2q duplication · 2q trisomy · chromosome 2q duplication · Duplication 2q · partial duplication of chromosome 2q
Disease Subtypes
Syndactyly type 1 4
2q23.1 microduplication syndrome
Chromosome 2q31.1 duplication syndrome
Distal trisomy 2q

Rare disease

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