partial trisomy of the long arm of chromosome 5

Rare Disease

MONDO:0016956

Also Known As

partial duplication of chromosome 5qpartial duplication of the long arm of chromosome 5partial trisomy of chromosome 5qpartial trisomy of the long arm of chromosome type 55q duplication5q trisomyDuplication 5qchromosome 5q duplicationpartial trisomy 5qtrisomy 5q

Definition

Chromosome 5q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5. 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 5q duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features. Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation. Treatment is based on the signs and symptoms present in each person.