- Chromosome 11q deletion syndrome
- Distal deletion 11q
- Distal monosomy 11q
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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. Although Jacobsen syndrome is typically not inherited, an affected person can pass the deletion on to his/her children.
- Jacobsen syndrome. Genetics Home Reference (GHR). 2009; http://ghr.nlm.nih.gov/condition/jacobsen-syndrome.
- 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.