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Diseases

Genetic and Rare Diseases Information Center (GARD)

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Jacobsen syndrome


Other Names for this Disease
  • Chromosome 11q deletion syndrome
  • Del(11)(q23.3)
  • Del(11)(qter)
  • Distal deletion 11q
  • Distal monosomy 11q
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Cause

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What causes Jacobsen syndrome?

Jacobsen syndrome is caused by a deletion of genetic material at the end of the long (q) arm of chromosome 11. The size of the deletion varies among affected people, but the deleted area almost always includes the tip of chromosome 11. The specific features of Jacobsen syndrome relate to the loss of multiple genes within the deleted region. While the exact function of some of the genes involved is unclear, they appear to be critical for normal development of many parts of the body. In general, larger deletions cause more severe signs and symptoms than smaller deletions.[1]

In about 85% of cases, the deletion is due to a random error during the formation of the egg or sperm, or an error in cell division in early fetal development. This is called a de novo deletion. In about 15% of cases, the deletion is caused by a parent having a balanced translocation or from other, rare types of chromosome rearrangements.[2] Although Jacobsen syndrome is typically not inherited, an affected person can pass the deletion on to his/her children.[1]

Last updated: 6/22/2015

References
  1. Jacobsen syndrome. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/jacobsen-syndrome.
  2. Paul Grossfeld, Teresa Mattine, Concetta Simona Perrotta. Jacobsen syndrome. Orphanet. March, 2009; http://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=2308.


Other Names for this Disease
  • Chromosome 11q deletion syndrome
  • Del(11)(q23.3)
  • Del(11)(qter)
  • Distal deletion 11q
  • Distal monosomy 11q
See Disclaimer regarding information on this site. Some links on this page may take you to organizations outside of the National Institutes of Health.