Chromosome 2p deletion

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Disease Overview

Chromosome 2p deletion is a chromosome abnormality that occurs when there is a missing copy of the genetic material located on the short arm (p) of chromosome 2. The severity of the condition and the signs and symptoms depend on the size and location of the deletion and which genes are involved. Features that often occur in people with chromosome 2p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features.[8897] Most cases are not inherited, but people can pass the deletion on to their children. Treatment is based on the signs and symptoms present in each person.


Synonyms

  • Deletion 2p
  • Monosomy 2p
  • 2p deletion
  • 2p monosomy
  • Partial monosomy 2p

For more information, visit GARD.

National Organization for Rare Disorders