Chromosome 5p duplication

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Disease Overview

Chromosome 5p duplication is a chromosome abnormality that occurs when there is an extra copy of genetic material on the short arm (p) 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 5p duplication include developmental delay, intellectual disability, behavioral problems and distinctive facial features.[9197] Most cases are not inherited, but people can pass the duplication on to their children. Treatment is based on the signs and symptoms present in each person.  


Synonyms

  • Duplication 5p
  • Trisomy 5p
  • 5p duplication
  • 5p trisomy
  • Partial trisomy 5p

For more information, visit GARD.

National Organization for Rare Disorders