Jacobsen Syndrome Overview
Learn About Jacobsen Syndrome
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.
Jacobsen syndrome is caused by a deletion of genetic material from chromosome 11. Usually, the deletion occurs at the end of the long arm of the chromosome. Less commonly, the deletion occurs within the long arm of the chromosome, which is known as an interstitial deletion. The size of the deletion varies among affected individuals, with most affected people missing 5 million to 16 million DNA building blocks (base pairs). Larger deletions tend to cause more severe signs and symptoms than smaller deletions.
Jacobsen syndrome occurs in about 1 in 100,000 newborns. More than 200 affected individuals have been reported.
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.
Wake Forest University Health Sciences
Bayard Powell is an Oncologist and a Hematologist in Winston Salem, North Carolina. Dr. Powell and is rated as an Advanced provider by MediFind in the treatment of Jacobsen Syndrome. His top areas of expertise are Acute Myeloid Leukemia (AML), Acute Promyelocytic Leukemia, Leukemia, Acute Lymphoblastic Leukemia (ALL), and Bone Marrow Aspiration. Dr. Powell is currently accepting new patients.
Duke Health Integrated Practice Inc
Marie Mcdonald is a Pediatrics provider in Durham, North Carolina. Dr. Mcdonald and is rated as an Experienced provider by MediFind in the treatment of Jacobsen Syndrome. Her top areas of expertise are Fabry Disease, Hypotonia, Microcephaly, and Achalasia Microcephaly Syndrome. Dr. Mcdonald is currently accepting new patients.
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...
Published Date: August 02, 2023
Published By: National Institutes of Health