Chromosome 8q duplication

From WikiMD's WELLNESSPEDIA

Alternate names[edit]

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

Definition[edit]

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]

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

Inheritance[edit]

  • 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]

  • 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]

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:

Treatment[edit]

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

NIH genetic and rare disease info[edit]

Chromosome 8q duplication is a rare disease.

Rare and genetic diseases

Rare diseases - Chromosome 8q duplication

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