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Jacobsen syndrome

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:

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.

It is named after Petra Jacobsen, the Danish physician who first described the syndrome in 1973 1.

Article information

rID: 15267
System: Paediatrics
Section: Syndromes
Synonyms or Alternate Spellings:
  • 11q deletion syndrome
  • Jacobsen's syndrome
  • Chromosome 11q deletion syndrome

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