41. Conditions And Diseases/Rare Disorders/Jacobsen Syndrome Conditions and Diseases/Rare Disorders/jacobsen syndrome healthboard. http://www.healthboard.com/websites/Conditions_and_Diseases/Rare_Disorders/Jacob

Health Board Conditions and Diseases/Rare Disorders/Jacobsen Syndrome Search Health Board Directories the entire directory only this category More search options Home Conditions and Diseases Rare Disorders : Jacobsen Syndrome LINKS: Danny's 11q Information Page A mother shares her son's story. Includes photos. http://hometown.aol.com/deidran/danny.html Institute of Child Health: Jacobsen Syndrome Clinical synopsis, plus research summaries. http://www.ich.ucl.ac.uk/units/mhu/fws/frames/jsoframe.htm The Fragile WEB Site Includes a reference database, family support groups and clinical information. http://web.ukonline.co.uk/c.jones/contents.htm HOME NEW LINKS COOL LINKS NEWSLETTER ... HealthBoard.com

42. Health/Conditions And Diseases/Rare Disorders/Jacobsen Syndrome -- The Doctors L Ask the doctor. Get free medical consultation and advice. Choose a medicalspecialist and post your question! Doctors in all medical fields are available. http://www.thedoctorslounge.net/dir/Health/Conditions_and_Diseases/Rare_Disorder

Advertisement Powered by Careerbuilder Search for: Home Humor Advertising Contact ... Links Specialties Cardiology Chest diseases Dermatology Endocrinology ... Urology Other Sections Membership Research Tools Medical Tutorials Medical Software ... Specialized Centers Headlines: The Medical Website Directory Popular Categories Popular Links Web Sites report abuse/spam url: report-abuse.dmoz.org/?cat=Health/Conditions_and_D... The Fragile WEB Site Includes a reference database, family support groups and clinical information. url: web.ukonline.co.uk/c.jones/contents.htm Institute of Child Health: Jacobsen Syndrome Clinical synopsis, plus research summaries. url: www.ich.ucl.ac.uk/units/mhu/fws/frames/jsoframe.ht... mozilla.org url: www.mozilla.org/ Wikipedia url: en.wikipedia.org/ edit url: editors.dmoz.org/editors/editcat.cgi?cat=Health/Co... More Search All the Web AltaVista Gigablast Google USENET ... Yahoo In association with ODP Help build the largest human-edited directory on the web. Submit a Site Open Directory Project Become an Editor Are you a physician or a nurse? Would you like to join us and help patients online by volunteering even a few minutes of your time?

43. June Issue.indd Keywords Pyloric stenosis, associations, jacobsen syndrome Postnatally, adiagnosis of jacobsen syndrome was made on the basis of the following http://www.rcsed.ac.uk/journal/svol2_3/2030010.html

Case Reports and Letters to the Editor Pyloric stenosis: Unusual presentations and rare associations G.V.S. Murthi S. Nour Department of Paediatric Surgery, University Hospitals of Leicester, Leicester Royal Infirmary, LE1 5WW, UK Correspondence to: G.V.S. Murthi, 12 Brookside Drive, Oadby, Leicester, LE2 4PB, UK Introduction Discussion References Keywords: Pyloric stenosis, associations, Jacobsen syndrome Surg J R Coll Surg Edinb Irel., 2 June 2004, 173-175 Pyloric stenosis is a common paediatric surgical condition with a well-recognised pattern of clinical features. Diagnosis is usually straightforward and a Ramstedt pyloromyotomy is curative. We present three patients who developed pyloric stenosis incidentally during the management of other primary surgical conditions. Issues of diagnostic difficulty following presentation of pyloric stenosis in the post-operative period (all three patients), its rare syndromic associations (one patient) and its management in this unusual situation are discussed. An awareness of the unusual presentations of pyloric stenosis during treatment for other primary surgical conditions can help in earlier diagnosis and treatment INTRODUCTION Pyloric stenosis with an incidence of 1.5 to 4 in 1000 live births is a well-recognised clinical condition that is frequently encountered, easily diagnosed (test-feed, ultrasound scan and blood gases) and managed by paediatric surgeons in specialist centres with an excellent outcome.

44. Human Genetics - Human Telomere 11q site FRA11B and a jacobsen syndrome chromosome deletion breakpoint in 11q23.3 . (Y;11) (q11.2;q24) in a 45,X male with signs of jacobsen syndrome. http://genes.uchicago.edu/telomere/11q.html

11q Telomere Hybridization of the unique 11q telomere PAC clone labeled with digoxigenin and detected with anti-digoxigenin rhodamine, and the unique 11p telomere PAC clone, labeled in biotin and detected in avidin-FITC, to normal metaphase chromosome preparations. The 11q telomere clone is PAC 26N8 from the Incyte Genomics (Genome Systems) PAC library, RPCI-1. (Knight and Lese et al. (2000) Am J Hum Genet, 67(2):320-332) Annotated Reference List for 11q Telomere Collaboration, National Institutes of Health and Institute of Molecular Medicine (1996): A complete set of human telomeric probes and their clinical application. National Institutes of Health and Institute of Molecular Medicine collaboration [published erratum appears in Nat Genet 1996 Dec;14(4):487]. Nat Genet 14( 1): 86 Abstract cosmid/PAC/P1 telomeric probe set for FISH Jones, C.;Slijepcevic, P.;Marsh, S.;Baker, E.;Langdon, W. Y.;Richards, R. I.;Tunnacliffe, A. (1994): Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3. Hum Mol Genet 3( 12): 2123 Abstract Knight, S. J.;Lese, C. M.;Precht, K. S.;Kuc, J.;Ning, Y.;Lucas, S.;Regan, R.;Brenan, M.;Nicod, A.;Lawrie, N. M.;Cardy, D. L.;Nguyen, H.;Hudson, T. J.;Riethman, H. C.;Ledbetter, D. H.;Flint, J. (2000): An optimized set of human telomere clones for studying telomere integrity and architecture.

45. 188025 THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT They suggested that TCPT may be a variant of jacobsen syndrome and that thethrombocytopenia in all cases of 11q23.3 deletion is due to dysmegakaryopoiesis, http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:188025] -e

46. *165360 CAS-BR-M MURINE ECOTROPIC RETROVIRAL TRANSFORMING SEQUENCE the CCG(n) repeat is involved in the pathogenesis of jacobsen syndrome (147791), and a jacobsen syndrome chromosome deletion breakpoint in 11q23.3. http://srs.sanger.ac.uk/srsbin/cgi-bin/wgetz?[omim-ID:165360] -e

47. Opera Directory Institute of Child Health jacobsen syndrome. Clinical synopsis, plus researchsummaries. The Fragile WEB Site. Includes a reference database, http://portal.opera.com/directory/?cat=524648

48. Link Directory - Finnish Information Center On Mental Retardation Analysis of jacobsen syndrome, G2D GeneCard for BARX2 What is Jacobsen s (or11q Deletion) Syndrome? Earthlink Jacobsen s Syndrome, Family Village http://www.saunalahti.fi/kup/engl/webs_j.html

Finnish Information Center on Mental Retardation English links A B C D ... Z Jacobsen Syndrome European Chromosome 11Q network JACOBSEN SYNDROME; JBS, OMIM chromosome 11q deletion syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Chromosome 11, Partial Monosomy 11q, Genetic Information and Patient Services, Inc. (GAPS) ... THROMBOCYTOPENIA, PARIS-TROUSSEAU TYPE; TCPT, OMIM Jackson-Weiss Syndrome JACKSON-WEISS SYNDROME; JWS, OMIM FIBROBLAST GROWTH FACTOR RECEPTOR 1; FGFR1, OMIM FIBROBLAST GROWTH FACTOR RECEPTOR 2; FGFR2, OMIM Jackson Weiss Syndrome, NORD ... Epidemiology of Craniosynostosis, Johns Hopkins University, Simeon Boyadjiev Boyd Jadassohn nevus phakomatosis NEVUS SEBACEUS OF JADASSOHN, OMIM epidermal nevus syndrome (ENS), Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes Epidermal Nevus Syndrome, eMedicine Epidermal Nevus Support Group ... LINEAR NEVUS SEBACEOUS SYNDROME, Miami Children´s Hospital Jaeken syndrome carbohydrate deficient glycoprotein (CDG) syndrome (CDGS) 1, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes CONGENITAL DISORDER OF GLYCOSYLATION, TYPE Ia, OMIM, Victor A. McKusick et al. Carbohydrate Deficient Glycoprotein Syndrome, Jaak Jaeken, The CDGS Family Network Inc1996 The CDG syndrome, Orphanet ... Increased biosynthesis of glycosphingolipids in congenital disorder of glycosylation Ia (CDG-Ia) fibroblasts, Sala G, Dupre T, Seta N, Codogno P, Ghidoni R, Pediatr Res. 2002 Nov;52(5):645-51 - PubMed Jaffe-Campanacci syndrome Jaffe-Campanacci syndrome, Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes

49. Co-localisation Of CCG Repeats And Chromosome Deletion Breakpoints In Jacobsen S We have chosen to study the chromosome deletions of jacobsen syndrome Whilst many chromosome deletions in jacobsen syndrome have been shown to map close http://hmg.oxfordjournals.org/cgi/content/full/9/8/1201

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article Abstract FREE Full Text (PDF) 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 ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (26) Request Permissions PubMed PubMed Citation Articles by Jones, C. Articles by Cotter, F. Human Molecular Genetics, 2000, Vol. 9, No. 8 Oxford University Press Co-localisation of CCG repeats and chromosome deletion breakpoints in Jacobsen syndrome: evidence for a common mechanism of chromosome breakage Christopher Jones Paul Grossfeld Rebecca Auer Remi Favier Ken Chien Michael James Alan Tunnacliffe and Finbarr Cotter Department of Medicine, Cardiac Molecular Biology Program, University of California San Diego, La Jolla, CA 92093-0613, USA, Wellcome Centre of Human Genetics, Nuffield Orthopaedic Centre, Headington, Oxford OX3 7BN, UK and

50. Physical Linkage Of The Fragile Site FRA11B And A Jacobsen Syndrome Chromosome D (FRA11B) and the chromosome 11q23 qter deletion in Jacobsen (11q) syndrome.The mother and brother of the reported jacobsen syndrome child are FRA11B http://hmg.oxfordjournals.org/cgi/content/abstract/3/12/2123

JOURNAL HOME HELP FEEDBACK SUBSCRIPTIONS ... TABLE OF CONTENTS QUICK SEARCH: [advanced] Author: Keyword(s): Year: Vol: Page: This Article 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 ISI Web of Science Similar articles in PubMed ... Cited by other online articles Search for citing articles in: ISI Web of Science (53) Request Permissions PubMed PubMed Citation Articles by Jones, C. Articles by Tunnacliffe, A. ARTICLES Physical linkage of the fragile site FRA11B and a Jacobsen syndrome chromosome deletion breakpoint in 11q23.3 C Jones, P Slijepcevic, S Marsh, E Baker, WY Langdon, RI Richards and A Tunnacliffe Department of Pathology, University of Cambridge, UK. Autosomal fragile sites, unlike their X-linked counterparts, are not known to be associated with disease. However, one case report has highlighted a possible relationship between the inheritance of a rare folate-sensitive deletion in Jacobsen (11q-) syndrome. The mother and brother of the

51. Genetics In Medicine - UserLogin 16 One exception is 11q, otherwise known as jacobsen syndrome. 28 In addition,the fragile site expressed in jacobsen syndrome is folate-dependent. http://www.geneticsinmedicine.org/pt/re/gim/fulltext.00125817-200201000-00003.ht

LWWOnline LOGIN eALERTS REGISTER ... Archive You are attempting to access protected content. To access this content please login using an established account or create/activate an account. If you have already created/ activated an online account, please login below: User Name: Password: Note: passwords are CASE SENSITIVE If you are a new user or guest visiting an LWWonline site for the first time, please complete the new account setup process to view or purchase content. Forgot your password? Subscribe Renewal Information Subscribe to RSS feed utrdc-pt01 Release 4.0

52. Localization Of Jacobsen Syndrome Breakpoints On A 40-Mb Physical Map Of Distal jacobsen syndrome is a haploinsufficiency disorder caused, most frequently byterminal deletion of part of the long arm of chromosome 11, with breakpoints http://www.pubmedcentral.nih.gov/articlerender.fcgi?artid=310705

53. Glossary In Congenital Malformations NeuroLearn NeuroHelp jacobsen syndrome (deletion 11q syndrome). · Genetics There is deletion ofchromosome 11q23 to qter in most cases and the region related to the clinical http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNG0BS01-J.htm

Glossary in Congenital Malformations NeuroLearn NeuroHelp Malformations General ... Z General Syndromes and Sequences Head #Jacobsen syndrome (deletion 11q syndrome): Genetics: There is deletion of chromosome 11q23 to qter in most cases and the region related to the clinical phenotype appears to be located on 11q24.1. Three quarter of the patients are female. Deletion of 11q may arise de novo or from inheriting a derived chromosome from a parent carrying a balanced translocation. Clinical features: Intrauterine growth retardtion and failure to thrive are the early symtoms. There is almost always moderate to severe mental retardation. Except those that die of their cardiac defect, they are compatible with long-term survival. Hypotonia in infancy frequently progress toward spasticity. There are also joint contractures and cardiac defects. Myelodysplastic changes have also been reported. The severity of clinical manifestation may be correlated with the amount of deleted chromosome Ono J et al., Clin Genet 1996 D e c;50(6):474-8 Characteristic cranial facial features: Trigonencephaly and microcephaly are frequently seen. Typical facial features include “carp mouth”, high arched palate, borad and/or flat nasal bridge, micrognathia, hypertelorism, and epicanthal folds.

54. Canadian Directory Of Genetic Support Groups (Chromosome) 11q Research and Resource Group jacobsen syndrome, 11q syndrome)Chromosome 18 Registry Research Society (Chromosome 18 13 Disorders) http://www.lhsc.on.ca/programs/medgenet/c_sup.htm

Index by support group Canadian Directory of Genetic Support Groups Canadian Angelman Syndrome Society (Angelman Syndrome) Canadian Association for Community Living (Down Syndrome, Developmental Delay, Autism, Chromosome Abnormality) Canadian Association for People Who Stutter (CAPS) (Stuttering) Canadian Association for Tay-Sachs and Allied Diseases (Tay-Sachs, Canavan Disease, Niemann-Pick Disease, Mucopolysaccharide Disorders, Fabry Disease, Gaucher Disease, Metachromatic Leukodystrophy, Glycoprotein Disorders, Other Lysosomal Storage Disorders, Non-Lysosomal Diseases, Zellweger Syndrome) Canadian Association for Williams Syndrome (CAWS) (Williams Syndrome) Canadian Association for Familial Ataxias Friedreich's Ataxia) Canadian Association of Speech-Language Pathologists and Audiologists Hearing Impairment, Speech Impairment, Deafness)

55. My Page What are the symptoms of jacobsen syndrome? How did jacobsen syndrome getit s name? How long do jacobsen syndrome Children Live? http://www.jacobsenparents.com/faq.html

FAQ Frequently Asked Questions What are the symptoms of Jacobsen Syndrome? Children who have the disorder may have some of a number of symptoms, including heart problems, speech and language problems, specific facial characteristics and mild to severe mental retardation. We are having a difficult time compiling an FAQ page. If there are any questions you think should be in this section, please do not hesitate to contact us! How did Jacobsen Syndrome get it's name? It was named after the person who discovered and identified the chromosome defect of JS, Dr. Petra Jacobsen. How long do Jacobsen Syndrome Children Live? Based on current medical research, there is no way of determining the life span of a JS child. However, there is every indication that they should have a full, normal life expectancy. (There are obvious exceptions based on which abnormalities each child develops.) Do all JS children have Paris-Trousseau Syndrome? It is currently believed in the medical community that all JS children have this syndrome. Dr. Paul Grossfeld

56. My Page deletion on the long arm of chromosome 11, better known as jacobsen syndrome . I look forward to speaking with anyone with a jacobsen syndrome child, http://www.jacobsenparents.com/ourstory.html

Our Story At 34 weeks pregnant, I went to the hospital in labor. Dilated to 5 cm and 80% effaced, I was transferred to a hospital with a NICU, and told that an amnio was needed to check for lung maturity. If her lungs were ready, I could walk around, if not, I must be put on bed rest. Since I wasn't really given an option I went ahead and had it done. During the preceding ultrasound, everyone was very quiet. I figured that was normal procedure for an amnio. Eventually one of the high risk OBGYNs came into the room and explained that Alexis' legs and arms were measuring small, and that her head was a little large. He said that since they were doing the amnio anyway, he was going to run a separate test to check for Down's Syndrome. Of course this went in one ear and out the other because, in my mind, things like that only happened to "other people". Well they did the amnio, her lungs weren't ready, and since my labor had stopped, they sent me home. About a week later, I received a phone call asking me why I never came back for the results. I explained that I had only been at that hospital due to the early gestation, and now that I was further along I was planning to deliver with my own doctor. Besides, I already had what I remembered as being the full results, her lungs weren't ready. It was then that the genetic counselor identified herself and said that there was something "wrong" with my baby, and that I needed to come in.

57. Mountain States Genetics Network Homepage jacobsen syndrome. Community Connections Jacobsen s Syndrome 11q Research andResource Group Jeune s syndrome (Asphyxiating Thoracic Dystrophy) http://www.mostgene.org/support/i-j.htm

Home About the Network Our Online Publications Regional Directory of Genetic Services ... Online Genetic Support Groups Directory Topics Genetic Services Genetic Testing Education Newborn Screening ... Other Links Directory of Online Genetic Support Groups I-J The inclusion of any resource or link in MoStGeNe does not imply endorsement. They are provided for educational purposes only. Consult with your health care provider regarding how any educational information found on the Internet may apply to your own situation. = Genetic Alliance Member = NORD Member = Medical Advisory - I - Foundation for Ichthyosis and Related Skin Types Ichthyosis Information and Support International Incontinentia Pigmenti Foundation Infantile Systemic Hyalinosis Infertility Infertility Resources RESOLVE: The National Infertility Association Intersex Society of North America Iron Overload Diseases American Hemochromatosis Society Haemochromatosis Society England Iron Disorders Institute Iron Overload Diseases Association, Inc.

58. Centre For Genetics Education:: Disorder Information And Support Ivemark Syndrome J jacobsen syndrome Jeune Syndrome Job Syndrome Johanson BlizzardSyndrome Joubert Syndrome K Kabuki Syndrome Kallmann Syndrome http://www.genetics.com.au/conditions/main.htm

A Aarskog Syndrome Achondroplasia Acoustic Neuroma Acrocallosal Syndrome Acromegaly Adams Oliver Syndrome Addison Disease Adrenoleukodystrophy Agenesis Of Corpus Callosum Aicardi Syndrome Alagille Syndrome Albinism Albright Hereditary Osteodystrophy Alexander Disease Alopecia Alpers Syndrome Alpha 1 Antitrypsin Deficiency Alpha-Thalassaemia X Linked Mental Retardation Syndrome Alpha-Thalassemia Mental Retardation Syndrome Deletion ATR 16 Alport Syndrome Alstrom Syndrome Alzheimer Disease *** Amyotrophic Lateral Sclerosis Androgen Insensitivity Syndzrome Anencephaly *** Angelman Syndrome Angioedema Ankylosing Spondylitis Apert Syndrome Aplasia Cutis Congenita Argininosuccinic Aciduria Arthrogryposis Multiplex Asperger Syndrome Ataxia Telangiectasia Autism Autoimmune Lymphoproliferative Syndrome Autoimmune Polyglandular Disease Type 1 B Bannayan Riley Ruvalcaba Syndrome Bardet Biedl Syndrome Bartter Syndrome Batten Disease Beckwith Wiedemann Syndrome Behcet Syndrome Behr Syndrome Bells Palsy Benign Essential Tremor Bipolar Disorder*** Blackfan Diamond Anemia Blepharophimosis Ptosis Epicanthus Inversus Syndrome Bloom Syndrome Borjeson Forssman Lehmann Syndrome Bowel Cancer *** Branchiootorenal Dysplasia Breast Cancer*** C Cadasil Camptomelic Dysplasia Cancer Cardiac Disorders *** Cardio Auditory Syndrome Cardiovascular Disease Carnitine Deficiency Syndromes Carpal Tunnel Syndrome Carpenter Syndrome Cartilage Hair Hypoplasia Cat Eye Syndrome Cavernous Malformations Ccc Syndrome Central Core Disease Cerebellar Agenesis Cerebral Palsy Cerebro Ocul0 Facio Skeletal Syndrome

59. KoreaMed - Basic Search jacobsen syndrome is a clinical disorder characterized by a deletion of the We herein report a case of jacobsen syndrome in male premature neonate born http://www.koreamed.org/SearchBasic.php?RID=183067&DT=1&QY=J Korean Soc Neonato

60. Abstract Mapping of the deleted segment in patient with jacobsen syndrome We presenta two months old girl with jacobsen syndrome and pancytopenia. http://web.feccbologna.it/7_9.htm

ABSTRACT Mapping of the deleted segment in patient with Jacobsen syndrome J. Brezinova , S. Kurkova , Z. Zemanova , L. Sindelarova , M. Jarosova , D. Novotna , V. Krutilkova , J. Stary and K. Michalova Institute of Hematology and Blood Transfusion, Prague, Czech Republic Center of Oncocytogenetics, General Faculty Hospital and 1st Medical Faculty of Charles University, Prague, Czech Republic University Hospital Olomouc, Czech Republic 2nd Medical Faculty of Charles University, Prague, Czech Republic Jacobsen syndrome was first observed in 1973. It is a clinically characteristic disorder due to deletion of the terminal band 11q23. The features of the syndrome are growth retardation, psychomotoric retardation, trigonocephaly, divergent intermittent strabismus, epicanthus, telecanthus and isoimmune thrombocytopenia. The deleted segment is variable in size and breakpoint localization, the largest deletion extends from 11q23.3 to 11qter. We present a two months old girl with Jacobsen syndrome and pancytopenia. Classical cytogenetic analysis of bone marrow cells revealed karyotype 46,XX,inv(9),del(11)(q23). We performed comparative genomic hybridization (CGH), mBAND for chromosome 11 and FISH analyses with five locus specific probes, localized in 11q23.3-11q25 region for precise mapping of the deleted segment. As the deletion of MLL gene localized in 11q23.3 can be found in patients with hematological malignancies, we used LSI MLL Dual Color probe (VYSIS). Three bacterial arteficial chromosomes (BACs), containing sequences for CBL gene in 11q23.3, (bA680A7), FLI1 gene in 11q24.3 (bA744N12), and for subtelomeric region 11q (bA209L12) kindly provided by Dr. M. Rocchi (University of Bari, Italy) were used. Probes were directly labeled by nick translation using SpectrumOrange and SpectrumGreen. To determine the subtelomeric deletion ToTelVysion probe for 11q, directly labeled (VYSIS) was used.

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 3     41-60 of 102    Back | 1  | 2  | 3  | 4  | 5  | 6  | Next 20