1. 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

2. Jacobsen Syndrome OMIM Entry An article with an explanation of jacobsen syndrome. http://www.ich.ucl.ac.uk/units/mhu/fws/frames/jsoframe.htm

3. 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

4. Jacobsen Syndrome Reference Database (by Date) "ParisTrousseau syndrome platelets in a child with Jacobsen's syndrome" http://web.ukonline.co.uk/c.jones/frames/frdate.htm

5. Danny's 11q Information Page A mother shares her story about having a son with jacobsen syndrome. http://hometown.aol.com/deidran/danny.html

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

6. The DRM WebWatcher: Jacobsen Syndrome (11q Deletion Or 11q-) A Disability Resources Monthly guide to Internet resourcesabout Jacobsen's syndrome. http://www.disabilityresources.org/JACOBSEN.html

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.

7. 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

8. The DRM Guide To Disability Resources On The Internet: What's New Archives Disorders, Cystic Fibrosis, Dystonia, Fetal Alcohol Syndrome (FAS), Humor, InternationalSites, jacobsen syndrome (11q Deletion or 11q), Parents with http://www.disabilityresources.org/DRMnewARCHIVES.html

Home Subjects States Librarians ... Contact Us The Disability Resources Monthly (DRM) Guide to Disabilities Resources on the Internet What's New - Archives Updated 5/2002 A B C D ... About/Hint/Link Monthly Additions and Updates Recent addiditons and updates to T he Disabilities Resources Monthly (DRM) Guide to Disability Resources on the Internet can be found on our What's New page. This page contains previous additions and updates. Updates since 1/1/2002 WebWatcher: Apraxia Brain Injuries and Disorders Disability Awareness Inclusion ... Tay-Sachs Disease Regional: Connecticut Iowa Missouri Montana Updates since 12/1/2001 WebWatcher: Ataxia Ehlers-Danlos Syndrome Health and Medical - General Higher Education ... Statistics Regional: District of Columbia Maine Maryland Tennessee Updates since 11/1/2001 WebWatcher: Autism Crohn's Disease and Ulcerative Colitis Disabilities - Databases History of Disabilities ... Toys Regional: Mississippir Ohio Pennsylvania Other: Awards We have begun an extended project of changing all of our mastheads, improving access for people who use screen readers, and making other format-related changes. With only one or two volunteers undertaking this effort and over 400 pages to go, we expect it to take a few months and perhaps even to slow down our regular updates. Please bear with us. Updates since 10/1/2001 WebWatcher: Adopting Children with Special Needs Braille Chat Conductive Education ... Web Page Design - Tools and Page Checkers Regional: Washington Updates since 9/1/2001

9. 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

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 This site was created by Christopher Jones using an Apple Macintosh.

10. Jacobsen Syndrome; Treatment, Prevention, Cure Jacobsen's Syndrome. Synonym 11 q Deletion Syndrome http://www.healthlinkusa.com/358A.asp

FREE. Would you like your site listed on HealthlinkUSA. Click here View health conditions and concerns alphabetically. A B C D ... Talk Health Sunday March 30, 2003 Search information from 1,000's of today's best health sites Jacobsen Syndrome Links to websites which may include treatment, cures, diagnosis, prevention, support groups, email lists, messageboards, personal stories, risk factors, statistics, research and more. Featured Sites Become a Featured Site? A parent group. Jacobsen Syndrome - Chat Room Archives Related Searches Products and Services Jacobsen Syndrome Jacobsen Syndrome Search again. Find more information concerning: All Words Any Words Visit the HealthlinkUSA Talk Health Forum Click here to enter the forum Take part in discussions about Visit one of more than 40 featured health areas. Select a Featured Area here Alternative Medicine Bladder Disorders Blood/Lymphatic System Cancer Cardiology Digestive System Digestive Health Endocrine System (Hormones) Environmental Health Genetics/Birth Defects Immune System/AIDS Infections Men's Health Pain Management Reproduction,Pregnancy,Birth

11. Conditions And Diseases: Rare Disorders: Jacobsen Syndrome | Treasure Coast Heal An article with an explanation of jacobsen syndrome. NORD jacobsen syndrome - A look at the alternate names, a http://www.tchealth.com/treasurecoasthealth.php/Health/Conditions_and_Diseases/R

Find Doctors on the Treasure Coast Select Specialty Ambulatory Care Anesthesiology Cardiology Dermatology Emergency Medicine Endocrinology Family Practice Gastroenterology Hematology/Oncology Infectious Diseases Internal Medicine Maxillofacial Surgery Neonatology Nephroology Neurology Neurosurgery Obstetrics/Gynecology Ophthalmology Orthopedic Surgery Otolaryngology Pathology Pediatics Physical Medicine Plastic Surgery Podiatry Psychiatry Psychology Pulmonary Radiation Oncology Radiology Rheumatology Surgery Thoracic Surgery Urology Vascular Surgery Select City Sebastian Palm Bay Vero Beach Fort Pierce Okeechobee Port St. Lucie Jensen Beach Stuart Palm City Hobe Sound Loxahatchee MENU Home Doctor Directory Health Resources Women Only ... About Us Conditions and Diseases: Rare Disorders: Jacobsen Syndrome See also: Health: Conditions and Diseases: Genetic Disorders http://www.nutrisystem.com We have helped millions of people lose weight for more than 30 years. Lose up to 10 lbs. in your first month! Danny's 11q Information Page - A mother shares her story about having a son with Jacobsen Syndrome.

12. 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

13. 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

Latest Health News Find Drug Information Health Calculators All Words Any Words A B C D ... Z Sunday, March 30, 2003 Alternative therapy struggles to bridge East-West divide Click here to read more Doctors are not following guidelines recommending flu and pneumonia vaccinations for hospitalized adults, leaving millions of elderly patients vulnerable to potentially deadly ailment Click here to read more A helping hand for uninsured; Agencies find ways to provide health care for area children Click here to read more The government has approved the first generic version of the acne drug, Accutane Click here to read more Gates to give India $100m for AIDS; Microsoft CEO begins controversy-laced trip to fight virus Click here to read more Allergies and Asthma Alternative Medicine Arthritis and Your Health ... Women's Health Sunday March 30, 2003 Spina Bifida: Spina Bifida is a rare birth disorder, affecting approximately 1 in 12-1400 live births. Click here to learn more Craniosynostosis: Sagittal Synostosis...males are affected about three times as often as females. Click here to learn more Spinal Cord Injury: Acts of violence have now overtaken falls as the second most common source of spinal cord injury.

14. 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 Brief description of Jacobsen syndrome and research to date, and the clinical synopsis. OMIM entries for Thrombocytopenia, Paris-Trousseau type Brief description of this related condition and its clinical synopsis. Complete OMIM entry for the CBL2 gene OMIM search page at NCBI Perform your own searches for information on other genetic conditions.

15. 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

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. OMIM entries for Jacobsen syndrome Brief description of Jacobsen syndrome and research to date, and the clinical synopsis. OMIM entries for Thrombocytopenia, Paris-Trousseau type Brief description of this related condition and its clinical synopsis. OMIM search page at NCBI Perform your own searches of the OMIM database for information on other genetic conditions.

16. 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

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

17. 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

Data Jacobsen Syndrome patients, by Dr. Paul Grossfeld, 1998/1999. Recent data can be found here Date from 70 JS patients, including those from the conferences in Europe (Ede-Lunteren, March 1998) and San Diego (August 1998)(51 females/19 males): 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

18. 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

19. 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

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases ... Rare Disorders : Jacobsen Syndrome ITEMS: LINKS: Danny's 11q Information Page A mother shares her story about having a son with Jacobsen Syndrome. (Rating: 0.00 Votes: 0) Rate It Institute of Child Health An article with an explanation of Jacobsen Syndrome. (Rating: 0.00 Votes: 0) Rate It 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. (Rating: 0.00 Votes: 0) Rate It HOME ADD A LINK MODIFY A LINK ... Design © ISC Enterprises Inc.

20. Rare Disorders : Meddie Health Search Cerebrocostomandibular Syndrome (5). Cleidocranial Dysplasia (5). Cystinosis(4). jacobsen syndrome (4). Melorheostosis (3). Moyamoya (4). Ollier Disease(3). http://www.meddie.com/search/Health/Conditions_and_Diseases/Rare_Disorders/

HOME ADD A LINK MODIFY A LINK NEW LINKS ... TOP RATED Search Meddie: the entire directory only this category More search options Home Health Conditions and Diseases : Rare Disorders CATEGORIES: Agnosia Aicardi Syndrome Alstrom Syndrome Barth Syndrome ... Wegener's Granulomatosis ITEMS: LINKS: Contact a Family Information about this organization as well as the CaF directory of specific conditions and rare disorders. Also details about the Rare Disorders Alliance - UK. (Rating: 0.00 Votes: 0) Rate It Human Growth Foundation Information about growth-related disorders through education, research, and advocacy. Member driven organization. (Rating: 0.00 Votes: 0) Rate It International Rare Disease Support Network A community providing more than a 1000 different links to support groups for the people of all nations. (Rating: 0.00 Votes: 0) Rate It National Organization for Rare Disorders, Inc. Information about NORD, its programs, special events and the variety of services offered. Includes a rare disease, organization and orphan drug database. Diseases are listed alphabetically for easy searching. (Rating: 0.00 Votes: 0)

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