Chromosome 8q duplication

Alternate names

Duplication 8q; Trisomy 8q; 8q duplication; 8q trisomy; Partial trisomy 8q

Definition

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.

File:Single Chromosome Mutations.png

File:Human chromosome 8 ideogram.svg

Cause

This condition occurs when extra copy (duplication) of genetic material on the long arm (q) of chromosome 8.

Inheritance

• 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.

Signs and symptoms

• 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.

Diagnosis

Chromosome disorders may be suspected in people who have developmental delays, intellectual disabilities and/or physical abnormalities.

Several types of genetic tests can identify chromosome disorders:

• Karyotyping
• Microarray (also called array CGH)
• Fluorescence in situ hybridization (FISH)

Treatment

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

NIH genetic and rare disease info

• NIH info on Chromosome 8q duplication

Chromosome 8q duplication is a rare disease.

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