21. Chromosome 11, Partial Monosomy 11q jacobsen syndrome; JBS; Deletion 11q Syndrome, Partial; Distal 11q Syndrome;Distal 11q Monosomy; 11q- Syndrome, Partial; Monosomy 11q, Partial http://my.webmd.com/hw/parenting_news/nord641.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map Health Topics Symptoms ... For a Complete Report Chromosome 11, Partial Monosomy 11q Important It is possible that the main title of the report Chromosome 11, Partial Monosomy 11q is not the name you expected. Please check the synonyms listing to find the alternate name(s) and disorder subdivision(s) covered by this report. Synonyms Jacobsen Syndrome JBS Deletion 11q Syndrome, Partial Distal 11q- Syndrome Distal 11q Monosomy 11q- Syndrome, Partial Monosomy 11q, Partial Partial Monosomy of Long Arm of Chromosome 11 Disorder Subdivisions None General Discussion Chromosome 11, Partial Monosomy 11q is a rare chromosomal disorder in which a portion of the long arm (q) of chromosome 11 is missing (deleted or monosomic). The range and severity of symptoms may vary, depending upon the exact size and location of the deletion on 11q. Chromosome 11, Partial Monosomy 11q may be characterized by abnormally slow growth before and after birth (prenatal and postnatal growth retardation), mental retardation, and/or moderate to severe delays in the acquisition of skills requiring the coordination of mental and muscular activity (psychomotor retardation). Characteristic physical abnormalities may include malformations of the head and facial (craniofacial) area, abnormalities of the eyes, malformations of the hands and/or feet, and/or defects of the heart. The exact cause of Chromosome 11, Partial Monosomy 11q is not fully understood.

22. Analysis Of Jacobsen Syndrome The number indicates the strength of association to jacobsen syndrome . The pointsto the related MeSHD terms. Follow the green arrows to navigate MeSH-C http://www.bork.embl-heidelberg.de/g2d/exam_disease.pl?U3719

23. References For Jacobsen Syndrome With The MeSH Term Mental References for jacobsen syndrome with the MeSH term Mental Retardation, G2D Home.PMID and date. Follow the link to see the corresponding entry by PubMed http://www.bork.embl-heidelberg.de/g2d/exam_mesh_disease.pl?Mental_Retardation:U

24. Jacobsen Syndrome OMIM Entry http://web.ukonline.co.uk/c.jones/frames/jsoframe.htm

25. OMIM Entries For Jacobsen Syndrome OMIM entries for jacobsen syndrome. Brief description of jacobsen syndrome andresearch to date, and the clinical synopsis. http://web.ukonline.co.uk/c.jones/11q/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.

26. HUM-MOLGEN DIAGnostics/Clinical Research 19 February 1997 Jacobsen 1996, 33772778) reported a case jacobsen syndrome in whom a brain stem auditory In other reports and reviews on jacobsen syndrome that I have come http://hum-molgen.org/clinical/19297-ncpr2.html

HUM-MOLGEN DIAGnostics/Clinical Research 19 February 1997 Jacobsen Syndrome Pivnik et al (J.Med Genet. 1996, 33:772-778) reported a case Jacobsen syndrome in whom a brain stem auditory evoked response indicated moderate bilateral hearing loss. In other reports and reviews on Jacobsen syndrome that I have come across there are no indications of any hearing loss. The possible explanations are a) that hearing loss is not a common feature of this disorder b) that moderate hearing loss has not been assessed in these patients or c) that hearing loss is secondary to the craniofacial abnormalities and varies according to the severity. I would appreciate any comments or information. David C. Hughes, MRC Institute of Hearing Research, University Park, University of Nottingham, Nottingham UK email: davidh@ihr.mrc.ac.uk

27. JBS - Jacobsen Syndrome Physical linkage of the fragile site FRA11B and a jacobsen syndrome chromosome The mother and brother of the reported jacobsen syndrome child are FRA11B http://www.pdg.cnb.uam.es/UniPub/iHOP/gg/89594.html

Most Jacobsen syndrome deletion breakpoints occur distal to Abstract-1401533 Physical linkage of the fragile site and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. Abstract-7913930 It is doubtful that parents with are at increased risk of having children with Jacobsen syndrome , but this cannot be ruled out. Abstract-8567228 We have tested this hypothesis by high resolution physical mapping of and of the deletion chromosome breakpoint in the Jacobsen syndrome patient. Abstract-7913930 It has also been demonstrated that is the site of breakage in some cases of Jacobsen syndrome (JS) involving terminal deletions of chromosome 11q. Abstract-1401533 A fragile site within the oncogene on chromosome 11 has been mapped very close to the deletion breakpoint in a handful of patients with Jacobsen syndrome Abstract-8567228 This chromosomal location is within the minimal deletion region for Jacobsen syndrome , a syndrome including craniosynostosis and other developmental abnormalities.

28. Geneticalliance.org jacobsen syndrome Also known as 11q Deletion syndrome, Partial 11q Monosomysyndrome Support Groups. 1 organization(s) found. previous Page 1 of 1 next http://www.geneticalliance.org/ws_display.asp?filter=support_groups_by_disease&t

29. Geneticalliance.org jacobsen syndrome Also known as 11q Deletion syndrome, Partial 11q Monosomysyndrome Public Databases. 2 public database(s) found. http://www.geneticalliance.org/ws_display.asp?filter=public_databases_by_disease

30. Birth Disorder Information Directory - J Jacobs Syndrome. jacobs syndrome. jacobsen syndrome (JBS; Deletion/Distal/Monosomy11q (Syndrome, Partial); Partial Monosomy of Long Arm of Chromosome 11 http://www.bdid.com/defectj.htm

HOME J Jabs Houk Bias Syndrome (Blau Syndrome, Blau Type Arthrocutaneouveal Granulomatosis, Synovitis Granulomatous Uveitis Cranial Neuropathies) jabs houk bias syndrome SYNOVITIS, GRANULOMATOUS, WITH UVEITIS AND CRANIAL NEUROPATHIES Jackson Barr Syndrome (Deafness Conductive Ptosis Skeletal Anomalies) jackson barr syndrome DEAFNESS, CONDUCTIVE, WITH PTOSIS AND SKELETAL ANOMALIES Jackson Weiss Syndrome (Craniosynostosis Midfacial Hypoplasia Foot Abnormalities; Acrocephalosyndactyly, Jackson Weiss Type) List of Sites Jacobs Syndrome jacobs syndrome Jacobsen Syndrome (JBS; Deletion/Distal/Monosomy 11q[-] (Syndrome, Partial); Partial Monosomy of Long Arm of Chromosome 11) European chromosome 11q network What is Jacobsen (or "11q Deletion") Syndrome? Jacobsen Syndrome (JBS) Jadassohn Lewandowsky Syndrome (Circumscribed Disseminated Keratosis Jadassohn Lewandowsky Type, Pachyonychia Congenita with Natal Teeth [Type I]) jadassohn lewandowsky syndrome PACHYONYCHIA CONGENITA, JADASSOHN-LEWANDOWSKY TYPE Jadassohn Nevus Phakomatosis See Nevus Sebaceus of Jadassohn Jaffe Campanacci Syndrome (Fibromatosis Multiple Non Ossifying) jaffe campanacci syndrome JAFFE-CAMPANACCI Jaffer Beighton Syndrome (Marfanoid Build Spondylolisthesis Constricted Pelvis) jaffer beighton syndrome Jagell Holmgren Hofer Syndrome (Ichthyosis Alopecia Eclabion Ectropion Mental Retardation) jagell holmgren hofer syndrome ICHTHYOSIS WITH ALOPECIA, ECLABION, ECTROPION, AND MENTAL RETARDATION

31. ScienceDaily -- Browse Topics: Health/Conditions_and_Diseases/Rare_Disorders/Jac September 01, 1993. More books about jacobsen syndrome Institute of ChildHealth jacobsen syndrome Clinical synopsis, plus research summaries. http://www.sciencedaily.com/directory/Health/Conditions_and_Diseases/Rare_Disord

@import "/styles/navbar.css"; @import "/styles/tabStyles.css"; Set home page Bookmark site Add search Latest News ... Email to friend Text Size A A A Front Page ... Rare Disorders : Jacobsen Syndrome Subtopics See Also: Health: Conditions and Diseases: Genetic Disorders Search Google: Jacobsen Syndrome News Books Links ... Mayo Clinic Develops New Coma Measurement System (September 8, 2005) full story Nitric Oxide Could Extend Fertility (September 8, 2005) Biochemistry , an American Chemical Society journal. full story Flipped, Expelled, Copied, And Shrunk: Researchers Document Dramatic Genome Alterations During Primate Evolution (September 6, 2005) Genome Research presents a series of studies that provide insight into the evolution and variation of primate genomes. The issue will appear online and in print on September 1, concomitant with the publication of the chimpanzee genome sequence in the journal Nature full story Discovery Will Aid Identification Of Misregulated Genes In Rett Syndrome (September 4, 2005) Molecular Cell that the "Rett Syndrome protein", MeCP2, only binds to genes with a specific sequence of nucleotide bases. This knowledge will aid in the identification of the genes that are regulated by the gene MECP2. This work was supported, in part, by the Rett Syndrome Research Foundation (RSRF). full story Big Differences In Duplicated DNA Distinguish Chimp And Human Genomes (September 2, 2005)

32. Jacobsen Syndrome: Chromosome Deletion At 11q23 -- Clang And LaBaere RJ 98 (10): jacobsen syndrome chromosome deletion at 11q23. DR Clang and LaBaere RJ 2nd.A male infant delivered at term to unrelated parents was found to have http://www.jaoa.org/cgi/content/abstract/98/10/551

HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Order Full text via Infotrieve Alert me when this article is cited Alert me if a correction is posted Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Clang, D. Articles by LaBaere RJ, , 2nd Journal of the American Osteopathic Association, Vol 98, Issue 10, 551-551 Case Reports Jacobsen syndrome: chromosome deletion at 11q23 DR Clang and LaBaere RJ 2nd A male infant delivered at term to unrelated parents was found to have multiple dysmorphic facial characteristics, abnormal head shape, anemia, thrombocytopenia, a prominent holosystolic heart murmur with multiple cardiac defects, hypotonia, and was small for his gestational age. Karotype revealed a de novo deletion of the long arm of chromosome 11, del (11)(q23), which has been previously described as Jacobsen syndrome. Recent studies have demonstrated that a folate-sensitive fragile site at 11q, band 23, (11q23) may be responsible for this deletion and possibly other syndromes as well. HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS

33. Localization Of Jacobsen Syndrome Breakpoints On A 40-Mb Physical Map Of Distal jacobsen syndrome is a haploinsufficiency disorder caused, jacobsen syndromeis characterized by partial aneusomy of the distal long arm of chromosome http://www.genome.org/cgi/content/full/9/1/44

QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract Full Text (PDF) Alert me when this article is cited ... Citation Map Services Email this article to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Cited by other online articles PubMed PubMed Citation Articles by Tunnacliffe, A. Articles by James, M. R. Vol. 9, Issue 1, 44-52, January 1999 LETTER Localization of Jacobsen Syndrome Breakpoints on a 40-Mb Physical Map of Distal Chromosome 11q Alan Tunnacliffe, Christopher Jones, Denis Le Paslier, Roger Todd, Dora Cherif, Michelle Birdsall, Louise Devenish, Cherine Yousry, Finbarr E. Cotter, and Michael R. James Anglia Research Foundation, Anglia Polytechnic University, Cambridge CB1 1PT, UK; Institute of Child Health, London WC1N 1EH, UK; Wellcome Trust Centre for Human Genetics, University of Oxford, Oxford OX3 7BN, UK; ABSTRACT Top Abstract Introduction Results Discussion Methods References Jacobsen syndrome is a haploinsufficiency disorder caused, most frequently by terminal deletion of part of the long arm of

34. Localization Of Jacobsen Syndrome Breakpoints On A 40-Mb Physical Map Of Distal http://www.genome.org/cgi/reprint/9/1/44

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35. Jacobsen Syndrome Base de données sur les maladies rares et les médicaments orphelins. http://www.orpha.net/static/GB/jacobsen_syndrome.html

Orphanet database access Jacobsen syndrome Direct access to data Summary The 11q terminal deletion disorder (also called "Jacobsen syndrome'') is a recognized pattern of malformation caused by partial chromosome 11q monosomy. Breakpoints typically arise in 11q23.3 with deletions extending to the telomere. More than 150 cases have been reported in the literature, with 110 of these being part of a single prospective study. The deletion of variable size gives rise to several phenotypes of varying severity, including multiple dysmorphic features, congenital heart defects and Paris-Trousseau thrombocytopenia. Mental retardation goes from normal to moderate. Patients with mild cognitive dysfunction have near-normal receptive language but moderately impaired expressive language function. Other common phenotypes include ophthalmologic, gastrointestinal symptoms, short stature, genitourinary problems, as well as fine and gross motor delays. Clinical management includes baseline cardiac evaluation and demonstration of the severe platelet dysfunction occurring in most cases. Although the decreased platelet count tends to resolve over time, platelet dysfunction is persistent, thus placing these patients at lifelong risk for bleeding. Studies of 11q deletion breakpoints reveal an interesting etiology; a folate-sensitive fragile site was shown to cause the deletions found in some patients, and breakpoints generally appear to cluster with CCG-trinucleotide repeats. *Authors: Drs P. Grossfeld and C. Jones (July 2003)*.

36. Rare Diseases Terms - Office Of Rare Diseases Deletion 11q Syndrome, Partial. Distal 11q Monosomy. Partial Monosomy of LongArm of Chromosome 11. Information about jacobsen syndrome is available from http://ord.aspensys.com/asp/diseases/diseaseinfo.asp?ID=307

37. Jacobsen Syndrome - OmniMedicalSearch.com - Jacobsen Syndrome medical information, health information, heart disease, cancer, chronic fatigue,candida, plastic surgery, stress. http://www.omnimedicalsearch.com/sr_jacobsen_syndrome.html

Acronym Search Associations Dictionary Journals ... BookMark All Engines Basic Search MedPro Search CDC HealthCentral HealthFinder.gov Healthopedia Nat'l Cancer Institute NHSDirect Pubmed Central WebMD All Words Any Words Download our Bottom-Side Medical Toolbar or FireFox Plugin We search the following medical databases to bring you the best results: MedPro Basic Search Results For " jacobsen syndrome " (Showing 1 to 20 of 101) Prev Next Get the latest health and medical news about "jacobsen syndrome" Find images about "jacobsen syndrome" ... Nausea and Vomiting Nausea and Vomiting WebMD Am. J. Hum. Genet. 69:1022.1032, 2001 1022 Hermansky-Pudlak Syndrome Type 3 in Ashkenazi Jews and Other Non.Puerto Rican Patients with Hypopigmentation and... Nat'l Cancer Institute Buddy Walk HealthFinder.gov The fine art of patient-doctor relationships. Park MP, Park RH. BMJ. 2004 Dec 18; 329(7480) Pubmed Central Down's syndrome Down's syndrome NHSDirect Waardenburg syndrome Waardenburg syndrome HealthCentral Chromosome 11, Partial Monosomy 1...

38. Congenital, Hereditary, And Neonatal Diseases And Abnormalities jacobsen syndrome (not on MeSH). European chromosome 11q network. The FragileWeb Site C Jones (UK). About jacobsen syndrome OMIM; McKusik - NCBI (US) http://www.mic.ki.se/Diseases/c16.html

search search staff sitemap ABOUT KAROLINSKA INSTITUTET ... print this page Diseases and Disorders Links pertaining to Congenital, Hereditary, and Neonatal Diseases and Abnormalities Alert! Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Start Page Contents: Abnormalities Aicardi Syndrome (not on MeSH) Amniotic Band Syndrome Anencephaly ... Wolf-Hirschhorn Syndrome (not on MeSH) Congenital, Hereditary, and Neonatal Diseases and Abnormalities The US National Organization for Rare Disorders , including a Rare Disease Database , and a List of Disease-specific Organizations Search Jablonski's MCA/MR Syndromes Database -NOTE: info may be outdated!! [Congenital Abnormalities associated with Mental Retardation] - NLM (US) Indice delle malattie [in Italian] - InformaGene (IT) A Short History of Mapping [B Mertz] - Access Excellence GENATLAS: Pathology Search [J Frezal] - Univ Rene Descartes, Paris (FR) OrphaNet [rare diseases] - (FR) A Birth Disorder Information Directory - Spamgid.com

39. Chromosome Disorders The Fragile Web Site (jacobsen syndrome, 11q minus) Provides information onChromosome 11 abnormalities, especially jacobsen syndrome (11q minus). http://rarediseases.about.com/od/chrosomedisorders/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Information by Disease Type Chromosome Disorders Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Chromosome Disorders Chromosomes hold the genetic keys to all of the body's functions. There may be errors on any of the body's 23 pairs of chromosomes, such as broken or missing pieces or too many pieces or copies. Links below are grouped by chromosome number (1-22 and sex chromosomes). Alphabetical Recent Up a category Wolf-Hirschhorn Syndrome (Chromosome 4) Article describes Wolf-Hirschhorn syndrome, its symptoms, diagnosis, and treatment. Cri-du-chat Syndrome (Chromosome 5) Article describes cri-du-chat syndrome, its symptoms, diagnosis, and treatment. From the About.com Guide to Rare/Orphan Diseases. Chromosome 9p Network Provides information, guest book, news, and links.

40. Articles - Jacobsen Syndrome jacobsen syndrome, also known as 11q deletion, is a congenital disorder thatoccurs due to a partial deletion of the terminal band on chromosome 11. http://www.1-electric.com/articles/Jacobsen_syndrome

Home Electric Scooters Wheelchairs Lifts Summary Jacobsen Syndrome , also known as 11q deletion , is a congenital disorder that occurs due to a partial deletion of the terminal band on chromosome Physical Characteristics Closely-set eyes caused by trigonocephaly Folding of the skin near the eye ( epicanthus Short, upturned nose (anteverted nostrils) Thin lips that curve inward Displaced receding chin (retrognathia) Low-set, misshapen ears Permanent upward curvature of the pinkie and ring fingers (bilateral camptodactyly) Hammer Toes In addition, patients tend to be shorter than average and have poor psychomotor skills. Outlook Patients with this disorder tend to live out normal lives within the limitations of their disability (varies from person to person), though congenital heart disease that does not manifest itself until adulthood is common. There is a greater incidence of various forms of cancer among those afflicted. Sources National Center for Biotechnology Information 11q.org - Note: PDF file Orthoseek - Specializes in pediatric orthopedics and pediatric sports medicine All text is available under the terms of the GNU Free Documentation License Source: Original text from the article in Wikipedia, The Free Encyclopedia:

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