Jacobsen syndrome

Jacobsen syndrome
Other names	Del(11)(qter), distal deletion 11q, distal monosomy 11q, monosomy 11qter
A girl displaying characteristic facial features of Jacobsen syndrome
Specialty	Medical genetics

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] The deletion may range from 5 million to 16 million deleted DNA base pairs.^[2] The severity of symptoms depends on the number of deletions; the more deletions there are, the more severe the symptoms are likely to be.

People with Jacobsen syndrome have serious intellectual disabilities, dysmorphic features, delayed development and a variety of physical problems including heart defects. Research shows that almost 88.5% of people with Jacobsen syndrome have a bleeding disorder called Paris-Trousseau syndrome.^[3]

Jacobsen syndrome is catastrophic in 1 out of every 5 cases, with children usually dying within the first 2 years of life due to heart complications.^[4]