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Genetic and Rare Diseases Information Center (GARD)

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Chromosome 3q29 microduplication syndrome

Other Names for this Disease
  • Microduplication 3q29 syndrome
  • Trisomy 3q29
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What is chromosome 3q29 microduplication syndrome?

What are the signs and symptoms of chromosome 3q29 microduplication syndrome?

What is chromosome 3q29 microduplication syndrome?

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

What are the signs and symptoms of chromosome 3q29 microduplication syndrome?

The signs and symptoms of chromosome 3q29 microduplication syndrome appear to vary among affected individuals. This condition has reduced penetrance, which means that some individuals with this chromosome abnormality do not have any signs and symptoms and are clinically unaffected.[2] Developmental delay, abnormally small head size (microcephaly) and ophthalmologic (eye-related) findings seem to be the most common features.[1][2] Other signs and symptoms that have been reported in affected individuals include cardiac (heart) abnormalities; poor muscle tone (hypotonia); speech delay; craniosynostosis; high palate (roof of the mouth); dental abnormalities; conductive hearing loss (hearing loss due to mechanical problems in the outer or middle ear); musculoskeletal abnormalities; and seizures.[2]
Last updated: 6/1/2012

  1. Nicole MORICHON-DELVALLEZ. 3q29 microduplication. Orphanet. March 2011; Accessed 5/30/2012.
  2. Goobie S et al. Molecular and clinical characterization of de novo and familial cases with microduplication 3q29: guidelines for copy number variation case reporting. Cytogenet Genome Res. 2008;