Chromosome 5q duplication

Alternate names

Duplication 5q; Trisomy 5q; Partial trisomy 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.

Cause

This condition occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5.

Inheritance

Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation.

Signs and symptoms

• 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.

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 5q duplication

Chromosome 5q duplication is a rare disease.

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