16p11.2 duplication

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Disease Overview

16p11.2 duplication is a chromosomal change in which a small amount of genetic material within chromosome 16 is abnormally copied (duplicated). This duplication occurs in the short (p) arm of chromosome 16 at a position known as 11.2. Signs and symptoms can vary widely among affected individuals. Some individuals have no symptoms while others may have features such as low weight; small head size; behavioral problems; features of autism spectrum disorder; developmental delay; intellectual disability; and speech and language delays. This condition can occur sporadically as a de novo mutation (by chance) or can be inherited in an autosomal dominant manner from a parent.[8846][12181][12182] Treatment depends on signs and symptoms present in each individual. 


Synonyms

  • 16p11.2 duplication syndrome
  • 16p11.2 microduplication
  • Susceptibility to Autism, 14B
  • AUTS14B

For more information, visit GARD.

National Organization for Rare Disorders