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Jacobsen Syndrome: more detail

Asperger Syndrome and Psychotherapy: Understanding Asperger Perspectives by Paula Jacobsen, 2003-03

Jacobsen syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Genetic Disorders, 2nd ed.</i> by Dawn, MS, CGC Cardeiro, 2005

Understanding How Asperger Children and Adolescents Think and Learn: Creating Manageable Environments for AS Students by Paula Jacobsen, 2005-06-15

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19 February 1997 jacobsen syndrome. In other reports and reviews on jacobsen syndromethat I have come across there are no indications of any hearing loss.
http://www.hum-molgen.de/clinical/19297-ncpr2.html

Extractions: 19 February 1997 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
NonCancerProf
19 February 1997 AntithrombinIII deficiency; jacobsen syndrome;Syndromic association with Crohn's disease. Editor Carlo Gambacorti
http://www.hum-molgen.de/clinical/NonCancerProf.html

Extractions: Professional Requests Osteodysplastic primordial dwarfism Spondyloepiphyseal dysplasia tarda Fraser and Jeune syndromes Rothmund-Thomson Syndrome ... Elejalde syndrome Familial diabetes insipidus Family with porphyria 46,XX,del(7)(pter->q22.3::q31.1->qter) Bartter syndrome ... Familial psoriasis Cystic Fibrosis mutation, D1152H Setleis Syndrome Geleophysic Dysplasia Marfan syndrome - growth charts ... Availability of DNA samples for anonymized research Request for tissue from Fragile X patients 6p- and Dandy Walker Syndrome Protein C deficiency Sertoli-cell-only syndrome ... Jarcho-Levin syndrome Allgrove syndrome Oral-facial-digital type I syndrome (OFDI) Marfan Syndrome Situs Inversus ... Parry-Romberg Syndrome Moderate mental delay, deafness and branchial clefts 3C syndrome LVOTO Defect Infantile Convulsions Ataxia Telangiectasia and Lowe Oculocerebrorenal Syndrome Bannayan-Zonana syndrome/ Cowden's disease Skeletal dysplasia Infantile convulsions Connective tissue disorder Panniculitis in cystic fibrosis patient Rubinstein-Taybi syndrome Retinitis pigmentosa/diabetic retinopathy ... Anterior horn cell degeneration Stickler Syndrome Familial deafness Arginase deficiency 46XY der(2) Add(2)(p21) ... Miyshi-type muscular dystrophy Partial transcobalmin I deficiency Duplication of Xq23-26 6 August 1998
1Up Health > Health Links Directory > Conditions And Diseases: Rare Disorders: J
Sites. Danny's 11q Information Page A mother shares her story about havinga son with jacobsen syndrome. The Fragile WEB Site Information
http://www.1uphealth.com/links/rare-disorders-jacobsen-syndrome.html

Extractions: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites.
1Up Health > Health Links Directory > Conditions And Diseases: J
Categories. jacobsen syndrome (4) Jock Itch (11) Joint Disorders (958)Joubert Syndrome (5) Juvenile Rheumatoid Arthritis (181). Help
http://www.1uphealth.com/links/conditions-and-diseases-j.html

Extractions: The information provided herein should not be used during any medical emergency or for the diagnosis or treatment of any medical condition. A licensed physician should be consulted for diagnosis and treatment of any and all medical conditions. Call 911 for all medical emergencies. Links to other sites are provided for information only they do not constitute endorsements of those other sites. Home Contact Us Privacy Links Directory
Searchalot Directory For Jacobsen Syndrome
Related Web Sites. The Fragile WEB Site Information on jacobsen syndrome, thechromosome deletion syndrome, for the families and carers of JS patients.
http://www.searchalot.com/Top/Health/ConditionsandDiseases/RareDisorders/Jacobse

Extractions: Home Search News Email Greetings Weather ... Global All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone WayBackMachine Webshots WiseNut Yahoo! Yahoo! Auctions Yahoo! News Yahooligans Zeal Sponsored Links Top Health Conditions and Diseases Rare Disorders : Jacobsen Syndrome Related Web Sites 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. Related Categories All the Internet About AltaVista AOL Search Ask Jeeves BBC Search BBC News Business Dictionary Discovery Health Dogpile CheckDomain CNN Corbis eBay Education World Employment Encyclopedia Encarta Excite Fast Search FindLaw FirstGov Google Google Groups Infomine iWon Librarians Index Looksmart Lycos Metacrawler Microsoft Northern Light Open Directory SearchEdu SearchGov Shareware Teoma Thesaurus Thunderstone
Congenital, Hereditary, And Neonatal Diseases And Abnormalities
Comprehensive list of links from Karolinska Institutet, Sweden.Category Health Nursing Specialties Neonatal on MeSH) Distal Trisomy 10q Families. jacobsen syndrome (not on MeSH)The 11q Research Resource Group USA; European chromosome
http://www.mic.ki.se/Diseases/c16.html
CancerGene JBS
Name, jacobsen syndrome. Locus, 11q24.1. OMIM, 147791, Phenotype links in OMIM 147791,disease, included, jacobsen syndrome (2). Clinical Synopsis according to OMIM
http://caroll.vjf.cnrs.fr/cancergene/CG338.html

Extractions: GDB SwissProt LocusLink JBS Class DISORDER Diseases Abnormalities, Multiple; Eye Abnormalities; Hypothyroidism; Somatotropin/deficiency; Thrombocytopenia Comments Jones et al. (1995, UI:95327186 ) have localized the fragile site FRA11B ( CG:554 ) to the p(CCG)n repeat of the CBL2 ( CG:139 ) proto-oncogene. A proportion of Jacobsen (11q-) syndrome patients inherited a chromosome carrying a CBL2 p(CCG)n expansion, which was truncated close to FRA11B. Recently, a possibility was raised that there may be other fragile sites in 11q23.3 in addition to FRA11B ( UI:98167666 Selected MEDLINE References: [Link to NCBI] [Link to CancerGene Citation Database] Laleye A;Delneste D;Pradier O;Hans C;Darboux R;Ogur G
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

Extractions: HOME Jabs Houk Bias Syndrome (Blau Syndrome, Blau Type Arthrocutaneouveal Granulomatosis, Synovitis Granulomatous Uveitis Cranial Neuropathies) Jackson Barr Syndrome (Deafness Conductive Ptosis Skeletal Anomalies) Jackson Weiss Syndrome (Craniosynostosis Midfacial Hypoplasia Foot Abnormalities; Acrocephalosyndactyly, Jackson Weiss Type) Jacobs Syndrome Jacobsen Syndrome (JBS; Deletion/Distal/Monosomy 11q[-] (Syndrome, Partial); Partial Monosomy of Long Arm of Chromosome 11) Jadassohn Lewandowsky Syndrome (Circumscribed Disseminated Keratosis Jadassohn Lewandowsky Type, Pachyonychia Congenita with Natal Teeth [Type I]) Jadassohn Nevus Phakomatosis Jaffe Campanacci Syndrome (Fibromatosis Multiple Non Ossifying) Jaffer Beighton Syndrome (Marfanoid Build Spondylolisthesis Constricted Pelvis) Jagell Holmgren Hofer Syndrome (Ichthyosis Alopecia Eclabion Ectropion Mental Retardation) jagell holmgren hofer syndrome ICHTHYOSIS WITH ALOPECIA, ECLABION, ECTROPION, AND MENTAL RETARDATION
WebGuest - Open Directory : Health : Conditions And Diseases : Rare Disorders :
Disorders (510). Sites Danny's 11q Information Page A mother sharesher story about having a son with jacobsen syndrome. The Fragile
http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Rare_Diso
WebGuest - Open Directory : Health : Conditions And Diseases : Genetic Disorders
6); Homocystinuria@ (4); Huntington's@ (28); Hydrocephalus@ (53);Incontinentia Pigmenti (7); jacobsen syndrome@ (4); Joubert Syndrome
http://directory.webguest.com/index.cgi/Health/Conditions_and_Diseases/Genetic_D

Extractions: See also: Sites: Gene Clinics *Cool Site* - Medical genetics knowledge base. NIH funded, expert-authored descriptions of inherited disorders. Covers genetic testing in diagnosis and management and genetic counseling of patients. Dr. Greene's HouseCalls - A discussion of medical information on trisomy, trisomy 13, genetics, and his own personal family experience with this rare disease. Genetic and Rare Conditions Site - Lay advocacy groups, support groups, information on genetic conditions and birth defects for professionals, educators and individuals. Disorders from A-Z. Genetic Disorders: The Links to Diet - Explores the role of diet in birth defects and genetic disorders. Includes nutritional links to disorders such as Down syndrome, cerebral palsy, homocystinuria, and cystic fibrosis. Primary Ciliary Dyskinesia - Information on a rare congenital disease.
Directory :: Look.com
jacobsen syndrome (4) See Also. Sites. Danny's 11q Information Page Amother shares her story about having a son with jacobsen syndrome.
http://www.look.com/searchroute/directorysearch.asp?p=524648
Directory :: Look.com
5) Hereditary Spastic Paraplegia (6) Homocystinuria (4) Huntington's (28) Hydrocephalus(53) Incontinentia Pigmenti (8) jacobsen syndrome (4) Joubert Syndrome
http://www.look.com/searchroute/directorysearch.asp?p=43396
Jacobsen Syndrome
CATEGORIES. Home Up. jacobsen syndrome Institute of Child Health http//www.ich.ucl.ac.ukAn article with an explanation of jacobsen syndrome.
http://www.medlina.com/jacobsen_syndrome.htm
Special Educational Needs
jacobsen syndrome. The Fragile Web Site, Provides information on the chromosomedeletion syndrome, jacobsen syndrome. Inclusion. Inclusion,
http://www.primaryict.info/special_educational_needs.htm

Extractions: Special Educational Needs Links Home Page Web Links Index Autism Dyslexia ... Dyslexia Newsletter Autism Autism The real Rainman, a fascinating account of the life of the real Rainman who inspired the film. NAS N ational A utistic S ociety. Teacch The web site home of a program for working with autisic children. Dyslexia Dyslexic.com The site says that it aims to be the "one-stop-shop" for dyslexic people of all ages. Dyslexics This site is a guide to home educating dyslexic children. I Am Dyslexic.com This site has been created by Barnaby, a 12-year-old dyslexic, to share his experiences with other dyslexic people. The site contains tips and advice on tactics and products that can help with reading and writing, as well as information on how using a computer has helped Barnaby with his school work. Keyspell Use 'Words Worldwide Ltd' for 'Dragon Naturally Speaking' software; it recognises words dictated at a normal speaking rate. The British Dyslexia Association Visit this site for all the latest information and advice. The Dyslexia Institute 'The Dyslexia Institute' is a national educational charity which provides assessment and tuition for dyslexic people and training for specialist teachers.
Listings Of The World Health Conditions And Diseases Rare
Listings World Health Conditions and Diseases Rare Disorders JacobsenSyndrome. At that time, the disease was named jacobsen syndrome. .
http://listingsworld.com/Health/Conditions_and_Diseases/Rare_Disorders/Jacobsen_
Listings Of The World Health Conditions And Diseases Rare
Syndrome (4) Cerebrocostomandibular Syndrome (5) Cleidocranial Dysplasia (7) Cystinosis(6) Degos (5), Erythromelalgia (5) jacobsen syndrome (5) Melorheostosis
http://listingsworld.com/Health/Conditions_and_Diseases/Rare_Disorders/
Jacobsen Syndrome Website Results :: Linkspider UK
jacobsen syndrome Websites from the Linkspider UK. jacobsen syndromeDirectory. Complete Results for jacobsen syndrome Related Topics.
http://www.linkspider.co.uk/Health/ConditionsandDiseases/RareDisorders/JacobsenS

Extractions: See Also: Health: Conditions and Diseases: Genetic Disorders 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. Danny's 11q Information Page - A mother shares her story about having a son with Jacobsen Syndrome. Institute of Child Health - An article with an explanation of Jacobsen Syndrome. NORD - Jacobsen Syndrome - A look at the alternate names, a general discussion and resources.
Human Genetics - Human Telomere 11q
WY;Richards, RI;Tunnacliffe, A. (1994) Physical linkage of the fragile site FRA11Band a jacobsen syndrome chromosome deletion breakpoint in 11q23.3. Hum Mol
http://www.genes.uchicago.edu/telomere/11q.html

Extractions: 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.
Individual Syndrome Web Site Template Page
jacobsen syndrome.
http://georgia.ncl.ac.uk/URODwSMLS/IWS/Js/Jacobsen.html
Full List Of Syndromes Investigated For Networked Support
No. Schmidt Syndrome. No. jacobsen syndrome. Yes. 40 named syndromes todate (7/3/97). 16 have worldwide support network; 24 apparently do not.
http://georgia.ncl.ac.uk/URODwSMLS/IWS/list.html

Extractions: Full List of Syndromes Investigated to Date A search in OMIM, requesting unlimited recall, for the word 'syndrome', elicited 2684 entries. As a test of the potential for URODwSMLs, in terms of rare syndromes that do not have any web presence, I began working down the list of syndromes associated with a proper name. I searched for the specified syndrome, using the OMIM name, or its synonyms, with the Altavista search engine, and where active links to identify support groups have been found, I've included them in the specific page for each syndrome. In several cases, however, support groups exist but there is no world-wide mailing list served by anyone. Syndrome Networked Support Found? Angelman Syndrome Yes Beckwith-Wiedemann Syndrome Yes Cornelia de Lange Syndrome Yes Catel-Manzke Syndrome No DiGeorge Syndrome Yes Dandy-Walker Syndrome No Duane Syndrome No Johnson-McMillin Neuroectodermal Syndrome No Job or Hyper-IgE Syndrome No Kartagener Syndrome No Langer-Giedion Syndrome No, two queries seeking to begin

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