Chromosome 6q duplication

From WikiMD's WELLNESSPEDIA

Alternate names[edit]

Duplication 6q; Trisomy 6q; 6q duplication; 6q trisomy; Partial trisomy 6q

Definition[edit]

Chromosome 6q duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6.

Cause[edit]

This condition occurs when there is an extra copy of genetic material on the long arm (q) of chromosome 6.

Inheritance[edit]

In most cases, chromosome 6q duplication occurs de novo or is inherited from a parent with a chromosomal rearrangement such as a balanced translocation.

Signs and symptoms[edit]

  • 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 6q duplication include developmental delay, intellectual disability, behavioral problems 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.


Chromosome abnormalities
Autosomal
X/Y linked
Translocations
Other



Mutation
Mechanisms of mutation
Mutation with respect to structure
Mutation with respect to overall fitness

NIH genetic and rare disease info[edit]

Chromosome 6q duplication is a rare disease.

Rare and genetic diseases

Rare diseases - Chromosome 6q duplication

A-Z list of rare diseases
* 0-9 | A - B - C - D - E - F - G - H - I - J - K - L - M - N - O - P - Q - R - S - T - U - V - W - X - Y - Z
Also see
Resources


Stub icon

This medical article is a stub. You can help WikiMD by expanding the page.


Medical Disclaimer: WikiMD is for informational purposes only and is not a substitute for professional medical advice. Content may be inaccurate or outdated and should not be used for diagnosis or treatment. Always consult your healthcare provider for medical decisions. Verify information with trusted sources such as CDC.gov and NIH.gov. By using this site, you agree that WikiMD is not liable for any outcomes related to its content. See full disclaimer.
Credits:Most images are courtesy of Wikimedia commons, and templates, categories Wikipedia, licensed under CC BY SA or similar.

Retrieved from "https://wikimd.org/index.php?title=Chromosome_6q_duplication&oldid=2380785"