Chromosome 3q29 microduplication syndrome
Other Names for this Disease
- Trisomy 3q29
- Microduplication 3q29 syndrome
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chromosome abnormality characterized by having an extra copy of material (duplication) on a specific part of the long arm of chromosome 3. The signs and symptoms vary among affected individuals, but the most common features include mild or moderate intellectual disability and microcephaly. The condition may occur for the first time in the affected individual (de novo) or it can be inherited from a mildly affected or apparently normal parent. Treatment is directed toward the specific signs and symptoms present in each individual.Chromosome 3q29 microduplication syndrome is a rare
Last updated: 5/30/2012
- Nicole MORICHON-DELVALLEZ. 3q29 microduplication. Orphanet. March 2011; http://www.orpha.net/consor/cgi-bin/Disease_Search.php?lng=EN&data_id=19607. Accessed 5/30/2012.
On this page
- 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 Chromosome 3q29 microduplication syndrome. Click on the link to view a sample search on this topic.