Learn About Jacobsen Syndrome

What is the definition of Jacobsen Syndrome?

Jacobsen syndrome is a condition caused by a loss of genetic material from chromosome 11. Because this deletion occurs at the end (terminus) of the long (q) arm of chromosome 11, Jacobsen syndrome is also known as 11q terminal deletion disorder.

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What are the causes of Jacobsen Syndrome?

Jacobsen syndrome is caused by a deletion of genetic material at the end of the long (q) arm of chromosome 11. The size of the deletion varies among affected individuals, with most affected people missing 5 million to 16 million DNA building blocks (also written as 5 Mb to 16 Mb). In almost all affected people, the deletion includes the tip of chromosome 11. Larger deletions tend to cause more severe signs and symptoms than smaller deletions.

How prevalent is Jacobsen Syndrome?

The estimated incidence of Jacobsen syndrome is 1 in 100,000 newborns. More than 200 affected individuals have been reported.

Is Jacobsen Syndrome an inherited disorder?

Most cases of Jacobsen syndrome are not inherited. They result from a chromosomal deletion that occurs as a random event during the formation of reproductive cells (eggs or sperm) or in early fetal development. Affected people typically have no history of the disorder in their family, although they can pass the chromosome deletion to their children.

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What are the latest Jacobsen Syndrome Clinical Trials?
GROWing Up With Rare GENEtic Syndromes ….When Children With Complex Genetic Syndromes Reach Adult Age
Summary: Introduction Rare complex syndromes Patients with complex genetic syndromes, by definition, have combined medical problems affecting multiple organ systems, and intellectual disability is often part of the syndrome. During childhood, patients with rare genetic syndromes receive multidisciplinary and specialized medical care; they usually receive medical care from 3-4 medical specialists.~Increased...
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Who are the sources who wrote this article ?

Published Date: September 01, 2015Published By: National Institutes of Health

What are the Latest Advances for Jacobsen Syndrome?
Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization.
Summary: Immune Deficiency in Jacobsen Syndrome: Molecular and Phenotypic Characterization.
Jacobsen syndrome and neonatal bleeding: report on two unrelated patients.
Summary: Jacobsen syndrome and neonatal bleeding: report on two unrelated patients.
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