Your browser does not support javascript:   Search for gard hereSearch for news-and-events here.

Diseases

Genetic and Rare Diseases Information Center (GARD)

Print friendly version

Chromosome 3q29 microduplication syndrome


Other Names for this Disease

  • Microduplication 3q29 syndrome
  • Trisomy 3q29
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Symptoms

Newline Maker

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.[1] Developmental delay, abnormally small head size (microcephaly) and ophthalmologic (eye-related) findings seem to be the most common features.[2][1] 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.[1]
Last updated: 6/1/2012

References
  1. 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;
  2. 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.


Other Names for this Disease
  • Microduplication 3q29 syndrome
  • Trisomy 3q29
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.