What Is Jacobsen (or "11q Deletion") Syndrome? What is Jacobsen (or 11q Deletion") Syndrome? jacobsen syndrome (11q Deletion, or 11q) is a rare chromosomal abnormality which affects perhaps one child in 100 000 in which a portion of the 11th chromosome is missing. http://ucsu.colorado.edu/~biasca/jacobsens.html
Jacobsen Syndrome OMIM Entry An article with an explanation of jacobsen syndrome. http://www.ich.ucl.ac.uk/units/mhu/fws/frames/jsoframe.htm
Debra Biasca's Home Page difficulties experienced by children with 11q Deletion Syndrome (jacobsen syndrome). If you know someone who has 11q http://ucsu.colorado.edu/~biasca/Home.html
Danny's 11q Information Page A mother shares her story about having a son with jacobsen syndrome. http://hometown.aol.com/deidran/danny.html
Extractions: htmlAdWH('7008174', '120', '30'); htmlAdWH('7004796', '234', '60'); Main Create Edit Help Danny's 11Q Page My son Daniel is almost 8 years old. He's special in many many different ways. He's a loving, funny, sweet, inquisitive wonderful child. Danny is also special because he has a chromosome disorder commonly known as Jacobsen's Syndrome. Jacobsen's Syndrome is a partial deletion on the 11th chromosome. It is quite rare and it wasn't discovered that Danny had it until he was 4 years old. The first four years of Danny's life were very difficult for me. I was 19 when I had Danny and I was a single mother. He was my first child and I didn't even want to think that anything could be wrong with him. He was a very good baby - very contented and sweet. Soon after he started walking he became very hyperactive. He was into everything and I mean everything. But I chalked it up to the "Terrible 2's". But the Terrible 2's never stopped. I mentioned it to my pediatrician and he said that he was probably hyper because of his ear problems (Danny was prone to ear infections). So I said ok and let it go. But
Extractions: Home Subjects States Librarians ... Contact Us The DRM WebWatcher Jacobsen Syndrome (11q Deletion or 11q-) Updated 2/17/2001 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.
NORD - Jacobsen Syndrome A look at the alternate names, a general discussion and resources. http://www.stepstn.com/cgi-win/nord.exe?proc=Redirect&type=rdb_sum&id=64
The Fragile WEB Site Information on jacobsen syndrome, the chromosome deletion syndrome, for the families and carers of JS patients. Reference databaase, family support groups and clinical information. http://web.ukonline.co.uk/c.jones/contents.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. The 11q Community at 11q.com goes live The Fragile WEB Site will soon be taking on a new identity at the center of the new "11q Community" web site at www.11q.com . As well as providing information on Jacobsen syndrome, 11q.com will provide information and resources on all chromosome 11q related diseases and also serve as a gateway to other 11q web sites, such as 11q.net and 11q.org
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HealthlinkUSA Jacobsen Syndrome Links Try it, you'll love it! AhHa. Click here for page 1 of jacobsen syndromeinformation from the HealthlinkUSA directory. Save on Drugs Here. http://www.healthlinkusa.com/358ent.htm
Jacobsen Syndrome; Treatment, Prevention, Cure jacobsen syndromeSearch information from many of the best jacobsen syndromehealth sites. jacobsen syndrome Family Message Board. A personal story. http://www.healthlinkusa.com/content/358.html
OMIM Entries For Jacobsen Syndrome OMIM entries for jacobsen syndrome. Brief description of Jacobsensyndrome and research to date, and the clinical synopsis. OMIM http://www.ich.ucl.ac.uk/units/mhu/fws/frames/omim.htm
OMIM Entries For Jacobsen Syndrome OMIM entries for jacobsen syndrome. Brief description of Jacobsensyndrome and research to date, and the clinical synopsis. OMIM http://web.ukonline.co.uk/c.jones/frames/omim.htm
Extractions: Online Mendelian Inheritance In Man (OMIM) is the online version of the famous catalogue of genetic disease. For your convenience, I have mirrored the OMIM entries for Jacobsen syndrome and Paris Trousseau thrombocytopenia on this WEB site. Links to publications cited in these texts will also allow you to view the abstracts where available. Brief description of Jacobsen syndrome and research to date, and the clinical synopsis. Brief description of this related condition and its clinical synopsis. Perform your own searches of the OMIM database for information on other genetic conditions.
Data Jacobsen Syndrome 1999 / Italian Translate this page Data jacobsen syndrome patients, by Dr. Paul Grossfeld, 1998/1999. Recentdata can be found here. Dati di 70 pazienti Jacobsen, compresi http://www.11q.org/DataJS99_it.htm
Extractions: Data Jacobsen Syndrome patients, by Dr. Paul Grossfeld, 1998/1999. Recent data can be found here Dati di 70 pazienti Jacobsen Coloboma oculare fessura verticale nell'iride Ptosi palpebrale (la palpebra non può essere sollevata del tutto Bocca a Carpa (bocca sottile con angoli rivolti in giù) Palato profondo Malformazione cardiaca Stenosi pilorica (ipertrofia del piloro) Stitichezza cronica Testicoli non discesi Diminuito numero di piastrine Infezioni ricorrenti Eczema Iridi di diverso colore o con macchie (eterocromia delle iridi) San Diego, 3 settembre, 1999
Data Jacobsen Syndrome 1999 Data jacobsen syndrome patients, by Dr. Paul Grossfeld, 1998/1999. Recentdata can be found here. Date from 70 JS patients, including http://www.11q.org/DataJS99_eng.htm
Extractions: Data Jacobsen Syndrome patients, by Dr. Paul Grossfeld, 1998/1999. Recent data can be found here Ocular Coloboma Ptosis Carp Mouth High Palate Heart Defect Pyloric Stenosis (in the Netherlands known as pylorus hypertrofia, narrowing of the stomach caused by thickening of the muscle at the end of the stomach) Chronic Constipation Undescended Testes Decreased Platelets Recurrent Infections Eczema Fam Hx Heterochromia (family history of two different coloured eyes) San Diego, September 3, 1999
Analysis Of Jacobsen Syndrome Analysis of jacobsen syndrome, G2D Home. GO TO CHROMOSOMAL REGION Disease mappedjacobsen syndrome Chromosome 11 Genomic position startstop 128500000 http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U3719
Jacobsen Syndrome : Meddie Health Search ITEMS LINKS Danny's 11q Information Page A mother shares her storyabout having a son with jacobsen syndrome. (Rating 0.00 Votes http://www.meddie.com/search/Health/Conditions_and_Diseases/Rare_Disorders/Jacob