Chromosome 8q duplication
Alternate names[edit | edit source]
Duplication 8q; Trisomy 8q; 8q duplication; 8q trisomy; Partial trisomy 8q
Definition[edit | edit source]
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.
Cause[edit | edit source]
This condition occurs when extra copy (duplication) of genetic material on the long arm (q) of chromosome 8.
Inheritance[edit | edit source]
- 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[edit | edit source]
- 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[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 8q duplication is a rare disease.
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