Entrez PubMed METHODS Ten new cases of jacobsen syndrome were collected and studied prospectivelyfor detection of abnormal ophthalmologic examination findings. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1
The Fragile WEB Site The Fragile Web Site provides information on the chromosome deletion syndrome, jacobsen syndrome (11q syndrome) as a reference guide for both http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Jacobsen Syndrome OMIM Entry 147791 jacobsen syndrome; JBS OMIM Links Main Index Alternative titles; symbols http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Now Leaflet Jacobsen Syndrome - 11q Terminal Deletion Disorder Characteristics jacobsen syndrome 11qlinks Conferences Library 11q kids Discussionforum Research Info+mail News Other chromosomes http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
The Fragile WEB Site provides information on the chromosome deletion syndrome, jacobsen syndrome (11qsyndrome) as a reference guide for both clinicians and the families of http://www.ich.ucl.ac.uk/units/mhu/fws/fws.htm
Extractions: The Fragile Web Site provides information on the chromosome deletion syndrome, Jacobsen syndrome (11q- syndrome) as a reference guide for both clinicians and the families of Jacobsen syndrome patients alike. The site includes a concise reference database of publications describing Jacobsen syndrome; the OMIM entry and clinical synopsis; and a guide for clinical examination. In addition, there are links to parents' support groups and other relevant sites. Important notice: This site has now been fully updated to use frames and therefore requires a frames-compatible browser such as or later versions. Use of earlier WEB browsers will result in your viewing empty pages, so download an up-to-date browser now by clicking on the link. This site was created by Christopher Jones
Data Jacobsen Syndrome 1999 Data jacobsen syndrome patients, by Dr. Paul Grossfeld, 1998/1999. Recent data can be found here. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Welcome To 11q Net 11q Net is the home page of the 11q Research and Resource. Based in the U.S.A., we provide support and organizational efforts for parents of all http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Jacobsen's Syndrome / Family Village Library Jacobsen s Syndrome. Synonym 11 q Deletion Syndrome A guide for cliniciansmonitoring jacobsen syndrome patients, including lists of reported http://www.familyvillage.wisc.edu/lib_jacobsen-syndrome.html
Extractions: A series of chat pages dedicated to discussion about 11q-disorders. Families with 11q children can share their experiences and communicate with other families from all over the World, either in one of several "message board" style forums dedicated to different subjects, or in real-time using the chat-page. Preventive medical checklist
Extractions: helpful? yes no Jacobsen syndrome was first described in 1973 by a Danish geneticist, Dr Petrea Jacobsen. It is a rare chromosomal condition which affects about one in every 100,000 births. Jacobsen syndrome is associated with a recognisable pattern of features. The children are usually of a pleasant disposition with a characteristic face, somewhat more pear shaped than normal. However, there is also some developmental delay which basically means learning difficulties (see entry, Learning Disability ) varying from mild to more severe; speech and language may also be slow to develop and growth may be slower. However, heart problems such as an enlarged left heart syndrome (see entry, Heart Defects ) can be more debilitating, sometimes requiring surgery. Blood disorders, mainly in the form of easy bruising and prolonged bleeding due to low numbers of platelets (thrombocytopenia - reduction in the number of platelets present in the blood and refered to as Paris-Trousseau syndrome) are common. Gastrointestinal problems including a narrowing of the outlet from the stomach to the small intestine (pyloric stenosis) and frequent respiratory problems also are seen. Individuals with Jacobsen syndrome may show some or all of these features although there is great variability in the number and severity of symptoms. The life expectancy for individuals with Jacobsen syndrome currently remains unknown but is increasing as we understand more about the symptoms and how to manage them. The two most common causes of illness and death are congenital heart defects and bleeding. The improved outcomes in children with most forms of congenital heart disease, however, suggests that the outcomes for children with Jacobsen syndrome with congenital heart defects is also likely to continue to improve.
Co-localisation Of CCG Repeats And Chromosome Deletion Breakpoints Colocalisation of CCG repeats and chromosome deletion breakpoints in jacobsen syndrome evidence for a common mechanism of chromosome breakage http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
Jacobsen's Syndrome Jacobsen s Syndrome Who to Contact Where to Go to Chat with Others Learn OMIM Entries for jacobsen syndrome -Brief description of jacobsen syndrome 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 3D View Of The Web jacobsen syndrome view the web in 3D and find whatever you want.. http://tmsyn.wc.ask.com/r?t=an&s=hb&uid=24312681243126812&sid=343126
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.
Jacobsen Syndrome Right Side This page provides information about jacobsen syndrome, a deletion of the longarm of Published in JAAPOS Ocular findings in jacobsen syndrome, http://www.11q.org/jacobsen_syndrome_r.htm
Extractions: Jacobsen_leaflet pdf Jacobsen_press_release.pdf This page provides information about Jacobsen Syndrome, a deletion of the long arm of chromosome 11, also called the 11q terminal deletion disorder. Other disorders on the long arm can be found at the page with characteristics Jacobsen Syndrome Behaviour research Other information 1. Jacobsen Syndrome The European Chromosome 11q Network officially started 11 June 1997. Over the years it is shown that about 50 % of the children who became member of the Network are missing the last part of the long arm of chromosome 11 ; this is called 11q terminal deletion disorder or Jacobsen Syndrome. In 1997 the Network found contact to Dr Paul Grossfeld (San Diego, USA) who became the expert on children with a 11q terminal deletion disorder. On this page the 11q Network collects data on the 11q terminal deletion supported by Paul Grossfeld. Now also availble Unique's new leaflet on 11q deletion disorder / Jacobsen Syndrome. Thank you Unique, Paul Grossfeld and 11q families in Europe and USA. Jacobsen_leaflet pdf , June 2005 Jacobsen_press_release.pdf