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.
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.
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.