16p11.2 deletion syndrome
Other Names for this Disease
- Chromosome 16p11.2 deletion syndrome
- Monosomy 16p11.2
- Microdeletion 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.
developmental delay and intellectual disability. Most also have at least some features of autism spectrum disorder. 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.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
Last updated: 9/22/2014
- 16p11.2 deletion syndrome. Genetics Home Reference. November 2009; http://ghr.nlm.nih.gov/condition/16p112-deletion-syndrome. Accessed 7/6/2011.
- Genetics Home Reference (GHR) contains information on 16p11.2 deletion syndrome. This website is maintained by the National Library of Medicine.
- Unique is a source of information and support for families and individuals affected by rare chromosome disorders. Click on the link to view information about 16p11.2 deletion syndrome.
- The Monarch Initiative brings together data about this condition from humans and other species to help physicians and biomedical researchers. Monarch’s tools are designed to make it easier to compare the signs and symptoms (phenotypes) of different diseases and discover common features. This initiative is a collaboration between several academic institutions across the world and is funded by the National Institutes of Health. Visit the website to explore the biology of this condition.
- Online Mendelian Inheritance in Man (OMIM) is a catalog of human genes and genetic disorders. Each entry has a summary of related medical articles. It is meant for health care professionals and researchers. OMIM is maintained by Johns Hopkins University School of Medicine.
- Orphanet is a European reference portal for information on rare diseases and orphan drugs. Access to this database is free of charge.
- PubMed is a searchable database of medical literature and lists journal articles that discuss 16p11.2 deletion syndrome. Click on the link to view a sample search on this topic.