Chromosome 5q duplication
Alternate names[edit | edit source]
Duplication 5q; Trisomy 5q; Partial trisomy 5q
Definition[edit | edit source]
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[edit | edit source]
This condition occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 5.
Inheritance[edit | edit source]
Chromosome 5q duplication can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation.
Signs and symptoms[edit | edit source]
- 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[edit | edit source]
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[edit | edit source]
Treatment is based on the signs and symptoms present in each person.
NIH genetic and rare disease info[edit source]
Chromosome 5q duplication is a rare disease.
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