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Diseases

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
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Overview



What is 16p11.2 deletion syndrome?

Is 16p11.2 deletion syndrome inherited?


What is 16p11.2 deletion syndrome?

16p11.2 deletion syndrome is a condition caused by a deletion of a small piece of chromosome 16. The deletion occurs near the middle of the chromosome at a location designated 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 individuals have minor physical abnormalities; however, signs and symptoms vary. Some affected individuals have no identified physical, intellectual, or behavioral abnormalities. Most cases of 16p11.2 deletion syndrome are not inherited, although affected individuals can pass the condition on to their children.[1]
Last updated: 7/6/2011

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 individual).[2][3]

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.[2] When an affected individual has children, each child has a 50% (1 in 2) risk to inherit the deletion.
Last updated: 4/16/2013

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