Jacobsen Syndrome OMIM Entry Clinical synopsis, plus research summaries. http://www.ich.ucl.ac.uk/units/mhu/fws/frames/jsoframe.htm
Jacobsen's Syndrome Jacobsen's Syndrome. Jacobsen's Syndrome Who to Contact Where to Go to Jacobsen's Syndrome. OMIM Entries for jacobsen syndrome - Brief description of jacobsen syndrome and http://www.ability.org.uk/Jacobsen's_Syndrome.html
Extractions: Our Aims Services Stats ... Z Jacobsen's Syndrome Jacobsen's Syndrome - Who to Contact Where to Go to Chat with Others Learn More About It . The DRM WebWatcher: Jacobsen's Syndrome OMIM Entries for Jacobsen syndrome -Brief description of Jacobsen syndrome and research to date, and the clinical synopsis. HIM-L Archives: RE: Jacobson's Syndrome Debra Biasca's - Helpful links to the fascinating worlds of Yiddish, Linguistics, News around the world, Language and Gender, Child Language Research (normal and abnormal language acquisition) and the exciting new research being done on the 11th chromosome in genera Jenny's Page - This Jenny Jacobsen's Page Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments
Jacobsen Syndrome Information Diseases Database jacobsen syndrome Chromosome 11q deletion syndrome Chromosome 11q monosomy, Disease Database Information http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=31957
TEXT TEXT. A number sign ( ) is used with this entry because jacobsen syndrome concerns a chromosomal aberration and many genes are involved in the phenotype. http://www.ich.ucl.ac.uk/units/mhu/fws/frames/jsomim.htm
Extractions: A number sign (#) is used with this entry because Jacobsen syndrome concerns a chromosomal aberration and many genes are involved in the phenotype. The Jacobsen syndrome is a clinically characteristic disorder due to deletion of the terminal band 11q23. This band is known to harbor a heritable folate-sensitive fragile site ( Sutherland and Hecht, 1985 ). The disorder was first observed by Jacobsen et al. (1973) . As reviewed by Fryns et al. (1986) and Epstein (1986) , the features of the syndrome are growth retardation, psychomotor retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus, broad nasal bridge, short nose with anteverted nostrils, carp-shaped upper lip, retrognathia, low-set dysmorphic ears, bilateral camptodactyly, hammer toes, and isoimmune thrombocytopenia. Fryns et al. (1986) identified the crucial band for this syndrome as 11q24.1; a very distal 11q24.2 deletion resulted in a completely different phenotype. In a typical case, Hausmann et al. (1988) were unable to identify the folate-sensitive fragile site at 11q23.2 in lymphocytes from either parent. Voullaire et al. (1987)
Entrez PubMed Click here to read Ocular findings in jacobsen syndrome. Lee WB, O Halloran HS, Grossfeld PD, Scher C, Jockin YM, Jones C. Department http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=pubmed&dopt=Abstra
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DOE Document - Clinical And Molecular Characterization Of Patients Jacobsen (11q) syndrome is caused by segmental aneusomy for the distal end of the long arm of We studied 14 jacobsen syndrome patients with de novo terminal deletions of http://rdre1.inktomi.com/click?u=http://www.osti.gov/energycitations/product.bib
Jacobsen's Syndrome / Family Village Library Library I J. Jacobsen s Syndrome. Synonym 11 q Deletion Syndrome. jacobsen syndrome information from OMIM. Web Sites. 11q Research and Resource Group Home Page. http://www.familyvillage.wisc.edu/lib_jacobsen-syndrome.html
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Extractions: Home Subjects States Librarians ... Contact Us The DRM WebWatcher Jacobsen Syndrome (11q Deletion or 11q-) Updated 5/2004 A B C D ... About/Hint/Link 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.
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Disease Directory : Rare Disorders : Jacobsen Syndrome Diseases Rare Disorders jacobsen syndrome. Analysis of jacobsen syndrome Analysis of jacobsen syndrome, G2D Home. See OMIM entries for jacobsen syndrome. http://www.diseasedirectory.net/Rare_Disorders/Jacobsen_Syndrome/default.aspx
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