Jacobsen syndrome
11q deletion , JBS (Abkürzung)

Jacobsen syndrome, which is very rare.

The majority of Jacobsen syndrome cases are not familial in nature, resulting from a spontaneous mutation occurring in a single parental gamete.

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.

Trigonocephaly is associated with the following syndromes: Opitz syndrome, Muenke syndrome, Jacobsen syndrome, Baller-Gerold syndrome and Say-Meyer syndrome.

Another DSCAM-like gene, DSCAML1, is located on chromosome band 11q23, a locus associated with Gilles de la Tourette and Jacobsen syndromes.

Known disorders in humans include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4; and Jacobsen syndrome, also called the terminal 11q deletion disorder.

For example, breakage at or near the FRA11b locus has been implicated in Jacobsen syndrome, which is characterized by loss of the part of the long arm of chromosome 11 accompanied by mild mental retardation.

It is also called the terminal 11q deletion disorder.

Within tumors showing segmental alterations, additional independent predictors of decreased overall survival were MYCN amplification, 1p and 11q deletions, and 1q gain.

Mosse Y, Greshock J, King A, et al.: Identification and high-resolution mapping of a constitutional 11q deletion in an infant with multifocal neuroblastoma.

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.

Attiyeh EF, London WB, Mossé YP, et al.: Chromosome 1p and 11q deletions and outcome in neuroblastoma.

Known disorders in humans include Wolf-Hirschhorn syndrome, which is caused by partial deletion of the short arm of chromosome 4; and Jacobsen syndrome, also called the terminal 11q deletion disorder.

Kröber A, Bloehdorn J, Hafner S, et al.: Additional genetic high-risk features such as 11q deletion, 17p deletion, and V3-21 usage characterize discordance of ZAP-70 and VH mutation status in chronic lymphocytic leukemia.