Jacobsen syndrome (also known as the chromosome 11q deletion syndrome) is a rare chromosomal anomaly that results from deletion of the terminal region of chromosome 11. It results in intellectual disabilities, a distinctive facial appearance and a variety of physical problems including heart defects and bleeding diathesis.
The estimated incidence is at approximately 1 out of every 100,000 births. There may be greater female predilection.
It can cause intellectual disabilities, a distinctive facial appearance, and a variety of physical problems, including:
- pre- and postnatal physical growth retardation: IUGR
- psychomotor retardation
- congenital cardiac anomalies
- characteristic facial dysmorphism
- abnormal platelet function: thrombocytopenia or pancytopenia are usually present at birth
It results from a deletion of a terminal region of chromosome 11 that includes band 11q24.1.
The majority of cases are not familial and result from a spontaneous mutation occurring in a single parental gamete. However, some instances of familial disease resulting from local chromosome fragility or an unbalanced translocation have been described.
History and etymology
It is named after Petra Jacobsen, the Danish physician who first described the syndrome in 1973 1.
- 1. Jacobsen P, Hauge M, Henningsen K et-al. An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study. Hum. Hered. 1973;23 (6): 568-85. - Pubmed citation
- 2. Mattina T, Perrotta CS, Grossfeld P. Jacobsen syndrome. Orphanet J Rare Dis. 2009;4 : 9. doi:10.1186/1750-1172-4-9 - Free text at pubmed - Pubmed citation
- 3. Leegte B, Kerstjens-frederikse WS, Deelstra K et-al. 11q- syndrome: three cases and a review of the literature. Genet. Couns. 1999;10 (3): 305-13. - Pubmed citation
- 4. Pivnick EK, Velagaleti GV, Wilroy RS et-al. Jacobsen syndrome: report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review of 52 cases. J. Med. Genet. 1996;33 (9): 772-8. J. Med. Genet. (link) - Free text at pubmed - Pubmed citation
- 5. Obregon MG, Mingarelli R, Digilio MC et-al. Deletion 11q23-->qter (Jacobsen syndrome). Report of three new patients. Ann. Genet. 1992;35 (4): 208-12. - Pubmed citation