Jacobsen syndrome is a condition characterized by the deletion of several genes on chromosome 11. Signs and symptoms vary among affected people but often include Paris-Trousseau syndrome (a bleeding disorder); distinctive facial features; delayed development of motor skills and speech; and cognitive impairment.

Jacobsen syndrome is a rare chromosomal disorder resulting from deletion of genes from chromosome 11 that includes band 11q24.1. It is a congenital disorder. Since the deletion takes place on the q arm of chromosome 11, it is also called 11q terminal deletion disorder. [1]

2017年7月9日 · Jacobsen syndrome is a rare congenital condition that’s caused by the deletion of several genes in chromosome 11. It’s sometimes called partial monosomy 11q.

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

2023年4月29日 · Several genes on chromosome 11 are deleted in Jacobsen syndrome, a condition that is caused by this deletion. Though signs and symptoms differ from person to person, they frequently include Paris-Trousseau syndrome (a bleeding disorder), distinctive facial features, delayed speech and motor skill development, and cognitive impairment.

2021年2月4日 · 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. The signs and symptoms of Jacobsen syndrome vary considerably.

2018年10月3日 · Jacobsen Syndrome, also known as Chromosome 11q Deletion Syndrome, is a rare chromosomal disorder. In this syndrome, there is a loss of genetic material in the long arm of chromosome 11 Approximately (and only) 5-10% of individuals with Jacobsen Syndrome (JBS) have a family history of the condition.

A multiple congenital anomaly/intellectual disability contiguous gene syndrome caused by partial deletion of the long arm of chromosome 11.

A rare genetic disorder caused by deletions in the long arm of chromosome 11 (11q) and mainly characterized by craniofacial dysmorphism, congenital heart disease, intellectual disability, Paris Trousseau bleeding disorder, structural kidney defects and immunodeficiency.

About 1 baby in 100,000 is born with Jacobsen syndrome. The chromosome disorder is twice as common in girls as in boys (Mattina 2009). It is known as a terminal deletion disorder because it is caused by the loss of genes from the end (terminus) of chromosome 11.