Jacobsen syndrome

Jacobsen syndrome
Girl with Jacobsen syndrome
Classification and external resources
Specialty Medical genetics
ICD-10 Q93.5
ICD-9-CM 758.3
OMIM 147791
DiseasesDB 31957
MeSH D054868
Orphanet 2308

Jacobsen Syndrome, also known as 11q deletion disorder, is a rare congenital disorder resulting from deletion of a terminal region of chromosome 11 that includes band 11q24.1. It can cause intellectual disabilities, a distinctive facial appearance, and a variety of physical problems including heart defects and a bleeding disorder. The syndrome was first identified by Danish physician Petra Jacobsen,[1] and is believed to occur in approximately 1 out of every 100,000 births.

Possible characteristics

In addition, patients tend to be shorter than average and have poor psychomotor skills.

The majority of Jacobsen syndrome cases are not familial in nature, resulting 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.


  1. Jacobsen P, Hauge M, Henningsen K, Hobolth N, Mikkelsen M, Philip J (1973). "An (11;21) translocation in four generations with chromosome 11 abnormalities in the offspring. A clinical, cytogenetical, and gene marker study". Hum. Hered. 23 (6): 568–85. doi:10.1159/000152624. PMID 4134631.

2. 11q Spanish Association. Official Website. Information in spanish for families, doctors and public and private institutions.


This article is issued from Wikipedia - version of the 8/3/2016. The text is available under the Creative Commons Attribution/Share Alike but additional terms may apply for the media files.