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Genetic and Rare Diseases Information Center (GARD)

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Mosaic trisomy 9


Other Names for this Disease

  • Mosaic trisomy chromosome 9
  • Trisomy 9 mosaicism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.

Overview

Mosaic trisomy 9 is a chromosomal abnormality that can affect may parts of the body. In people affected by this condition, some of the body's cells have three copies of chromosome 9 (trisomy), while other cells have the usual two copies of this chromosome. The signs and symptoms vary but may include mild to severe intellectual disability, developmental delay, growth problems (both before and after birth), congenital heart defects, and/or abnormalities of the craniofacial (skull and face) region. Most cases are not inherited; it often occurs sporadically as a random event during the formation of the reproductive cells (egg and sperm) or as the fertilized egg divides. Treatment is based on the signs and symptoms present in each person.[1][2][3]
Last updated: 1/18/2015

References

  1. Trisomy 9 Mosaicism. Unique. 2001; http://www.rarechromo.org/information/Chromosome%20%209/Trisomy%209%20mosaicism%20FTNW.pdf.
  2. CHROMOSOME 9, TRISOMY MOSAIC. NORD. May 2008; https://www.rarediseases.org/rare-disease-information/rare-diseases/byID/1035/viewAbstract.
  3. Zen PR, Rosa RF, Rosa RC, Graziadio C, Paskulin GA.. New report of two patients with mosaic trisomy 9 presenting unusual features and longer survival. Sao Paulo Med J. December 2011; 129(6):428-432.
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Basic Information

  • Genetics Home Reference (GHR) contains information on Mosaic trisomy 9. This website is maintained by the National Library of Medicine.
  • The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
  • Unique is a source of information and support to families and individuals affected by rare chromosome disorders. Click on the link to view information about trisomy 9 mosaicism.

In Depth Information

  • PubMed is a searchable database of medical literature and lists journal articles that discuss Mosaic trisomy 9. Click on the link to view a sample search on this topic.
Other Names for this Disease
  • Mosaic trisomy chromosome 9
  • Trisomy 9 mosaicism
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.