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.