Chromosome 10q duplication

Other Names: Duplication 10q; Trisomy 10q; 10q duplication; 10q trisomy; Partial trisomy 10q Chromosome 10q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 10.

Cause

Many 10q duplications in a child result from a chromosome rearrangement in one of the parents, called a balanced translocation (which usually causes no health problems).When a parent has a balanced translocation, the child may also have a loss of material from another chromosome (called a deletion).

Inheritance

In some cases, a 10q duplication is not inherited and occurs sporadically when egg or sperm cells form, or shortly after the egg and sperm join together. A chromosome test of both parents can help determine whether the duplication was inherited, and whether future children have an increased chance to have a chromosome abnormality.

Signs and symptoms

The severity and the specific signs and symptoms depend on the size and location of the duplication and which genes are involved. Signs and symptoms that can be present in a person with a 10q duplication may include growth delay, short stature, a small head size, low muscle tone (hypotonia), developmental delay, and intellectual disability. Other signs and symptoms may include problems with the eyes, heart defects, unusual features of the hands and feet, distinctive facial features, cleft palate, and/or other birth defects.

Treatment is based on the signs and symptoms present in each person.

NIH genetic and rare disease info

• NIH info on Chromosome 10q duplication

Chromosome 10q duplication is a rare disease.