Other Names for this Disease
- Chromosome 15q11.2 microdeletion
- Chromosome 15q11.2 deletion
- 15q11.2 microdeletion syndrome
- Monosomy 15q11.2
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chromosome abnormality in which a tiny piece of genetic material on the long arm of chromosome 15 (at a location designated q11.2) is missing (deleted). The features of people with a 15q11.2 microdeletion vary widely. The most common features include developmental, motor, and language delays; behavior and emotional problems; attention deficit disorders; and autism spectrum disorder. Other features may include birth defects and seizures. However, some people have no apparent physical, learning, or behavior problems. A 15q11.2 microdeletion may occur randomly for the first time in an affected person, or it may be inherited from a parent. Treatment depends on the signs and symptoms in each person.15q11.2 microdeletion refers to a
Last updated: 3/21/2015
- 15q11.2 microdeletions. Unique. 2012; http://www.rarechromo.org/information/Chromosome%2015/15q11.2%20microdeletions%20FTNW.pdf.
- Cox DM, Butler MG. The 15q11.2 BP1-BP2 Microdeletion Syndrome: A Review. Int J Mol Sci. February 13, 2015; 16(2):4068-4082.
- 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 15q11.2 microdeletion.
- 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 15q11.2 microdeletion. Click on the link to view a sample search on this topic.