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 estimtated 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 defects
- 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: 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