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Genetic and Rare Diseases Information Center (GARD)

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16p11.2 deletion syndrome


Other Names for this Disease

  • Chromosome 16p11.2 deletion syndrome
  • Del(16)(p11.2)
  • Microdeletion 16p11.2
  • Monosomy 16p11.2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

What is 16p11.2 deletion syndrome?

What are the signs and symptoms of 16p11.2 deletion syndrome?

Is 16p11.2 deletion syndrome inherited?

What is the long-term outlook for people with 16p11.2 deletion syndrome?

What is 16p11.2 deletion syndrome?

16p11.2 deletion syndrome is a condition caused by a missing piece (deletion) on a specific region of chromosome 16 designated as p11.2. People with 16p11.2 deletion syndrome usually have developmental delay and intellectual disability. Most also have at least some features of autism spectrum disorders. Some affected people have minor physical abnormalities; however, signs and symptoms vary. Some affected people appear to have no physical, intellectual, or behavioral abnormalities. Most cases of 16p11.2 deletion syndrome are not inherited, although affected people can pass the condition on to their children.[1]
Last updated: 9/22/2014

What are the signs and symptoms of 16p11.2 deletion syndrome?

16p11.2 deletion syndrome is mainly characterized by some degree of developmental delay, intellectual disability, and/or autism spectrum disorder (ASD). Developmental delays tend to affect language and cognitive function more than motor function. IQ scores range from mild disability to normal, but those in the normal range typically have other developmental issues such as language delay or ASD.[2] Some people with the deletion have no identified issues or abnormalities.[3]

Affected people are at increased risk for obesity, and may be at increased risk for seizures and relatively minor heart defects. There is generally not an increased risk for other conditions or medical problems. While people with 16p11.2 deletion syndrome do not have a characteristic pattern of distinctive physical features, several studies have reported various features in affected people.[2]
Last updated: 9/23/2014

Is 16p11.2 deletion syndrome inherited?

Most cases of 16p11.2 deletion syndrome are not inherited and occur due to a random event during the formation of the egg or sperm, or in early fetal development. When this happens, it is called a de novo deletion (occurring as a new genetic change for the first time in the affected person).[4][5]

The inheritance of 16p11.2 deletion syndrome is autosomal dominant because a deletion in only one copy of chromosome 16 in each cell is sufficient to cause the condition. Although affected individuals typically have no history of the condition in their family, they can still pass the condition to their children. There have been several reported cases of the syndrome being inherited.[4] When an affected person has children, each child has a 50% (1 in 2) risk to inherit the deletion.
Last updated: 9/22/2014

What is the long-term outlook for people with 16p11.2 deletion syndrome?

We are not aware of long-term follow-up data for people with 16p11.2 deletion syndrome. The long-term outlook (prognosis) for affected people likely depends on the specific features and severity in each person. Some affected people may have congenital abnormalities such as a heart defect, while others have no identifiable signs or symptoms.
Last updated: 9/23/2014

References
  1. 16p11.2 deletion syndrome. Genetics Home Reference. November 2009; http://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome. Accessed 7/6/2011.
  2. David T Miller, et. al. 16p11.2 Microdeletion. GeneReviews. October 27, 2011; http://www.ncbi.nlm.nih.gov/books/NBK11167/. Accessed 9/22/2014.
  3. 16p11.2 deletion syndrome. Genetics Home Reference. September, 2014; http://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome. Accessed 9/23/2014.
  4. 16p11.2 deletion syndrome. Genetics Home Reference. November 2009; http://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome. Accessed 4/16/2013.
  5. David T Miller et al. 16p11.2 Microdeletion. GeneReviews. October 27, 2011; http://www.ncbi.nlm.nih.gov/books/NBK11167/. Accessed 4/16/2013.


Other Names for this Disease
  • Chromosome 16p11.2 deletion syndrome
  • Del(16)(p11.2)
  • Microdeletion 16p11.2
  • Monosomy 16p11.2
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.