This information is provided by the National Institutes of Health (NIH) Genetic and Rare Diseases Information Center (GARD).
Chromosome 8q duplication is a rare chromosome abnormality characterized by an extra copy (duplication) of genetic material on the long arm (q) of chromosome 8. The symptoms and severity depend on the size and location of the duplication, which genes are involved, and whether other chromosome abnormalities are also present. Some features only occur when a particular section of the chromosome is duplicated. Features that have been more commonly reported in people with a chromosome 8q duplication include developmental delay, learning difficulties, congenital heart defects, skeletal abnormalities, genital or urinary abnormalities, and distinctive facial features.
Most cases of chromosome 8q duplication are not inherited from a parent and occur by chance in people with no family history of chromosome abnormalities. In some cases, one parent has a rearrangement of chromosomal material, such as a balanced translocation or inversion, that increases the risk to have a child with a chromosome 8q duplication. Regardless of whether the duplication was inherited from a parent, a person with the duplication has an increased risk to have a child with a chromosome abnormality. Treatment is based on the signs and symptoms present in each person.
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