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Chromosome 3q29 microduplication syndrome

Other Names for this Disease
  • Microduplication 3q29 syndrome
  • Trisomy 3q29
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Chromosome 3q29 microduplication syndrome is a rare 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.[1] Treatment is directed toward the specific signs and symptoms present in each individual.
Last updated: 5/30/2012


  1. Nicole MORICHON-DELVALLEZ. 3q29 microduplication. Orphanet. March 2011; Accessed 5/30/2012.
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In Depth Information

  • The Online Mendelian Inheritance in Man (OMIM) is an 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.