Learn About Chromosome 5q Duplication

What is the definition of Chromosome 5q Duplication?
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. 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. Chromosome 5q duplication can be de novo (occurring for the first time in that family) or inherited from a parent with a chromosomal rearrangement such as a balanced translocation.
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What are the alternative names for Chromosome 5q Duplication?
  • Chromosome 5q duplication
  • Duplication 5q
  • Partial trisomy 5q
  • Trisomy 5q
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Published Date: May 02, 2022
Published By: Genetic and Rare Diseases Informnation Center

What are the Latest Advances for Chromosome 5q Duplication?

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