Jacobsen Syndrome/11q Deletion or 11q-

Jacobsen’s Syndrome (11q Deletion or 11q-) is a rare chromosomal abnormality in which a portion of the 11th chromosome is missing. It affects about one in every 100,000 births. People who have this disorder may have heart problems, speech and language problems, specific facial characteristics, and mild to severe mental retardation.
Chromosome 11, Partial Monosomy 11q
Basic information and organizational links from the National Organization for Rare Disorders (NORD).
European Chromosome 11Q Network
This multi-lingual online support network offers information, a discussion forum, links, and more.
Fragile Web Site
Developed as a reference guide for both clinicians and families, this site lists publications about Jacobsen syndrome; the OMIM entry and clinical synopsis; a guide for clinical examination; a photo gallery; and links to support groups and related sites. As always with personal web sites (although this one is attributed to a doctor of experimental haematology at the Royal London Medical School), we urge caution in evaluating medical information.
11q Net
The home page of 11q Resource and Research, a U.S. organization that provides “support and organizational efforts for parents of all children with 11th chromosome abnormalities, including deletions (monosomy), duplications (trisomy) and translocations.” The site is very similar in content and style to the Fragile Web Site (above). There’s also a newsletter and chat.
Jacobsen Syndrome
Clinical information from Online Mendelian Inheritance in Man (OMIM).
Related Subjects
Chromosome Disorders
Communication Disorders
Facial Differences
Heart Disorders
Mental Retardation
Rare Disorders
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