Chromosome 6p deletion

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Disease Overview

Chromosome 6p 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 6. 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 6p deletion include developmental delay, intellectual disability, behavioral problems, and distinctive facial features. Chromosome 6p deletion can be de novo or inherited from a parent with a chromosomal rearrangement such as a balanced translocation.[9459] Treatment is based on the signs and symptoms present in each person.


Synonyms

  • Deletion 6p
  • Monosomy 6p
  • 6p deletion
  • 6p monosomy
  • Partial monosomy 6p

For more information, visit GARD.

National Organization for Rare Disorders