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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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Inheritance

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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).[1][2]

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.[1] When an affected person has children, each child has a 50% (1 in 2) risk to inherit the deletion.
Last updated: 9/22/2014

References
  1. 16p11.2 deletion syndrome. Genetics Home Reference. November 2009; http://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome. Accessed 4/16/2013.
  2. 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.