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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

lists with details

Electricbrain Home: Index: Health: Conditions And Diseases: Rare Disorders
Syndrome Melorheostosis Moyamoya Pierre Robin Syndrome Pemphigus PhenylketonuriaRubinsteinTaybi Syndrome Barth Syndrome jacobsen syndrome Ollier Disease,
http://www.electricbrain.com/index/Health/Conditions_and_Diseases/Rare_Disorders
Gopalrao Velagaleti, PhD
EK Pivnick, GVN Velagaleti, RS Wilroy, ME Smith, SR Rose, RE Tipton AT Tharapeljacobsen syndrome report of a patient with severe eye anomalies, growth
http://www.utmb.edu/pedi1/main/facbios/DivGENET/gvelagaleti.htm

Extractions: Email: govelaga@utmb.edu EDUCATION: BS Biology-Chemistry Andhra University, India MS Zool-Cytogenetics University of Mysore, India PhD Human Cytogenetics Bangalore University, India PROFESSIONAL CERTIFICATIONS AND LICENSES: American Board of Medical Genetics Clinical Cytogenetics State of Tennessee Medical Laboratory Director PROFESSIONAL EXPERIENCE:
Health Library - Chromosome 11, Partial Monosomy 11q
s) covered by this report. Synonyms. jacobsen syndrome; JBS; Deletion11q Syndrome, Partial; Distal 11q Syndrome; Distal 11q Monosomy;
http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=
Specific Genetic Information
jacobsen syndrome Also known as 11q deletion, it is a rare disorder thatincludes heart, speech/language, learning, and skeletal abnormalities.
http://specialchildren.about.com/cs/specificinfo/

Extractions: Neurofibromatosis 1 (NF1) occurs in approximately 1 in 4,000 births. One of the leading characteristics of NF 1 is cafe-au-lait spots and neurofibromas on or under the skin. Neurofibromatosis 2 (NF2), is much rarer and occurs in approximately 1 in 40,000 births. NF2 is characterized by multiple tumors on the cranial and spinal cord. About Kids Pseudo-obstruction and Hirschsprung's Disease
Rare Disorders
Cerebrocostomandibular Syndrome; Cleidocranial Dysplasia; Cystinosis;Degos; Erythromelalgia; jacobsen syndrome; Melorheostosis; Moyamoya;
http://www.ad.com/Health/Conditions_and_Diseases/Rare_Disorders/
HIDROTIC ECTODERMAL DYSPLASIA
PATHOGENESIS 1. Background. also called Clouston Ectodermal Dysplasia, FischerJacobsen-Clouston Syndrome, jacobsen syndrome, Ungual Ectodermal Dysplasia;
http://www.icondata.com/health/pedbase/files/HIDROTIC.HTM

Extractions: Pediatric Database (PEDBASE) Discipline: GEN Last Updated: 7/08/98 An autosomal dominant disorder characterized by hypotrichosis, abnormal nails, and hyperkeratosis of the palms and soles. risk factors: M = F French and Chinese populations also called Clouston Ectodermal Dysplasia, Fischer-Jacobsen- Clouston Syndrome, Jacobsen Syndrome, Ungual Ectodermal Dysplasia one in a heterogeneous group of disorders (there may be over 120 different types) characterized by a number of defects involving the teeth, skin, and appendageal structures (hair, nails, and eccrine and sebaceous glands): the Ectodermal Dysplasias may be due to disturbances in the tissue derived from ectoderm -> absent or hypoplastic glandular systems: 1. Eccrine Glands - sweating deficit
Rare Disorders
The Fragile WEB Site Infomation on jacobsen syndrome, the chromosomedeletion syndrome, for the families and carers of JS patients.
http://www.foundhealth.com/Health/Conditions_and_Diseases/Rare_Disorders/

Extractions: Advertisement Foundhealth.com Search All Terms Any Term Tips Browse foundhealth.com Health calculators Fast Food Database Speakers Bureau How to evaluate sites Submit a site Contact us Home - main directory Top Health Conditions and Diseases : Rare Disorders See also: Health: Conditions and Diseases: Genetic Disorders National Organization for Rare Disorders, Inc. - An organization helping people with rare disorders and disabilities. "Working toward the prevention, treatment, and cure of rare 'orphan' diseases." Site includes both a Rare Disease and Orphan Drug Database. Campylobacter Information - Frequently asked questions about Campylobacter from The Centers for Disease Control and Prevention. Canadian Organization for Rare Disorders - Committed to the enhancement of the lives of persons affected by rare disorders. Includes history of CORD and informational support network. Depersonalisation Support Forum - Sensation of feeling as if living in a dream, feeling of nothing being real, feeling detached from oneself, yet remaining aware this is just a sensation.
Contact Persons/Monthly Database Update Chromosome Deletion Outreach, Inc. (CDO)
deletion 10p deletion (2 new members) 10q 26 deletion 10q26.2 deletion 10q26.3 deletion(2 new members) 11p 12,13 duplication 11q 24 jacobsen syndrome 12p 13.1
http://www.chromodisorder.org/disorder1.htm

Extractions: About CDO Contact Us Join CDO Donate ... Volunteer Select a Page More about Chromosome Deletion Outreach Registered Chromosome Disorders CDO Family Stories Intro to Chromosome Abnormalities Ask the Doctor Library Resources Secure Application Form CDO Angels NICU Stories Guestbook T-Shirts FAQS Inspirational Chromosome Deletion Outreach, Inc. If you are a member of Chromosome Deletion Outreach, Inc. and wish to be a CDO regional, disorder or medical contact, please let us know. Volunteer parents are urgently needed to provide support and information to newly diagnosed families. CDO Members, do you need the name and address of any contact? Please click HERE This is a password protected document, please contact any CDO Board Member to access. 1p36.3 deletion
HEALTHMEDNET
Jackson Weiss Syndrome. jacobsen syndrome. Jacquet's Dermatitis (DiaperRash). Jacquet's Erythema (Diaper Rash). JakobCreutzfeldt Disease.
http://www.epscorp.com/healthmednet/j.htm

Extractions: The names were derived from the specific illness/disease source directories. Therefore, there are some variations in the names. When ordering a list of URLs for your illness/disease, where possible, include the general usage, technical, acronym, and/or abbreviation names. Jackson Weiss Syndrome Jacobsen Syndrome Jacquet's Dermatitis (Diaper Rash) Jacquet's Erythema (Diaper Rash) Jakob-Creutzfeldt Disease Jansen Type Metaphyseal Chondrodysplasia Jansky-Bielschowsky Disease Japanese Encephalitis Jarcho Levin Syndrome Jaundice Jaundice Conditions Jaundice in Newborns (Hyperbilirubinemia) Jaundice, Neonatal Jaw Jaw Abnormalities Jaw Claudication Jaw Cysts Jaw Diseases Jaw Neoplasms Jaw Pain caused by TMJ Jaw, Broken Jaw, broken or dislocated Jaw, Edentulous Jaw, Lumpy Jejunal Atresia Jejunum Jellyfish and Portuguese Man-of-War Stings Jet Lag Jeune's Syndrome Jigger Job Syndrome Jock itch Jock itch (Ringworm) Jock Itch (Tinea Cruris) Johanson Blizzard Syndrome Joint Joint and Bone Infections Joint Aspiration Joint Conditions Joint contractures Joint Deformities, Acquired
Greenwood Genetic Center - Faculty Profile: Ron C. Michaelis, Ph.D., Research Sc
GVN, Jones C, Pivnick EK, Phelan MC, Boyd E, Tunnacliffe A, Tarleton J, Wilroy RS,Tharapel AT The majority of jacobsen syndrome deletion breakpoints do not
http://www.ggc.org/faculty/michael.html

Extractions: Ron C. Michaelis, Ph.D. , Research Scientist Dr. Michaelis' work involves a combination of diagnostic service work and research. His diagnostic work involves testing the DNA from patients who are suspected of having one of several genetic disorders to see if he can find a DNA mutation that is responsible for their condition and thereby confirm the suspected diagnosis. His research work involves trying to discover which genes are responsible for several disorders which are thought to be genetic disorders but for which a responsible gene has not yet been identified. Most of the patients he studies are mentally retarded or autistic. Some have physical deformities as well. The two projects with which Dr. Michaelis is most closely involved are the L1CAM mutation analysis project and the South Carolina Autism Project. Robinson WP, Dutly F, Nicholls RD, Bernasconi F, Penaherrera M
Community Connections > Disabilities > About > Jacobsen's Syndrome
About jacobsen's syndrome. Overview. jacobsen's syndrome (11q Deletion or 11q) is a rare chrome disorder in which a
http://www.arcofkingcounty.org/guide/disabilities/about/jacobsens

Extractions: Jacobsen's Syndrome (11q Deletion or 11q-) is a rare chrome disorder 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, although many children with Jacobsen's are extremely capable. Children who have Jacobsen's Syndrome may have some of a number of symptoms, including heart problems, speech and language problems, specific facial characteristics and mild to severe mental retardation. They often have ptosis (droopy eyes) and a broad bridge between the eyes, can have problems with kidneys, heart, (ear-)infections and blood platelets. The mental level differs: there are children with mild till severe mental handicaps. This depends probably of length and place of the missing piece of the chromosome. Diagnosis If you or someone else thinks your child may be delayed, it is important to seek an assessment at as young an age as possible. Children with Jacobsen's Syndrome and other developmental delays may benefit from early intervention services, therapies, educational interventions and other support services that may require a diagnosis in order to be eligible for those services.
Jacobsen's Syndrome
Library I J. jacobsen's syndrome. Synonym 11 q Deletion syndrome. Whereto Go to Chat with Others. jacobsen's syndrome on-line discussion groups.
http://www.familyvillage.wisc.edu/lib_jacobsen-syndrome.html
Jacobsen's Syndrome
jacobsen's syndrome OnLine Discussion Groups. Web Boards. 11q WebBoard. If you know of an on-line discussion group that should be
http://www.familyvillage.wisc.edu/lists/jacobsen.html
Jacobsen's Syndrome
jacobsen's syndrome. jacobsen's syndrome Who to Contact Where to Go to Chatwith Others Learn More About It . The DRM WebWatcher jacobsen's syndrome.
http://www.ability.org.uk/Jacobsen's_Syndrome.html

Extractions: Our Aims Services Stats ... Z Jacobsen's Syndrome Jacobsen's Syndrome - Who to Contact Where to Go to Chat with Others Learn More About It . The DRM WebWatcher: Jacobsen's Syndrome OMIM Entries for Jacobsen syndrome -Brief description of Jacobsen syndrome and research to date, and the clinical synopsis. HIM-L Archives: RE: Jacobson's Syndrome Debra Biasca's - Helpful links to the fascinating worlds of Yiddish, Linguistics, News around the world, Language and Gender, Child Language Research (normal and abnormal language acquisition) and the exciting new research being done on the 11th chromosome in genera Jenny's Page - This Jenny Jacobsen's Page Webmaster . Site Design by Ability "see the ability, not the disability" Acknowledgments
J1
Back Home Next. J. jacobsen's syndrome. Jack Daniels. Japanese Tea Ceremony.Java World Chat Link. javacolour.html. Javascript. Jehovah's Witnesses.
http://www.ability.org.uk/j1.html
Community Connections > Disabilities > On-line Resources > Web Sites > Jacobsen'
Disabilities HomeWeb Sites jacobsen's syndrome. DisabilityResources.org (jacobsen'ssyndrome) http//www.disabilityresources.org/jacobsen.html.
http://www.arcofkingcounty.org/guide/disabilities/online/sites/jacobsens/
Online And Offline Support: J
jacobsen's syndrome (11q). Please note Children, teens, and adults with jacobsen'ssyndrome have facial anomalies that do not require reconstructive surgery.
http://www.widesmiles.org/support/j.html

Extractions: J Jacobsen's Syndrome (11q-) Please note: Children, teens, and adults with Jacobsen's Syndrome have facial anomalies that do not require reconstructive surgery. Chromosome 11q Network (Europe) 11q Research and Resource Group (United States) Joubert Syndrome Joubert Syndrome Parents-in-Touch Network Please note: Cleft palate can occur with Joubert Syndrome. Back to Wide Smiles' Online and Offline Support and Information Page
Jacobsen's (or 11q Deletion) Syndrome?
jacobsen's syndrome (11q Deletion, or 11q) is a rare chromosomal abnormalitywhich affects perhaps one child in 100,000 in which a portion of the 11th
http://home.earthlink.net/~heinabilene/karyotypes/del11q.htm

Extractions: Jacobsen's 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. It was discovered by Dr. P. Jacobsen in 1973. At that time, the disease was named "Jacobsen's Syndrome." Children who have the disease may have some of a number of symptoms, including heart problems, speech and language problems, specific facial characteristics and mild to severe mental retardation. Many of the children are high functioning in spite of the challenges posed by the structural abnormality of their chromosomes. Environmental factors cause 7 to 10 percent of congenital anomalies and are throught to be the main cause of structural abnormalities. Although the specific location of the chromosome deletion which 'qualifies' as Jacobsen's varies among the research articles which have been published, a parent group has been formed to provide support and organizational efforts for parents of all children with 11th chromosome abnormalities, including
Genetic Counselor's Toolbox
Reference for the clinical geneticist.Category Health Reproductive Health Prenatal Testing Deletion 5q syndrome SourceOMIM; Deletion 11q (jacobsen) syndrome SourceOMIM;Deletion 13q syndrome SourceMCA/MR syndromes Database;
http://www.perinatology.com/genetics/tools.htm
Morten Jacobsen Has Worked With Films For 40 Years Starting As A Camera Operator
Evaluation of a Private Film Collection for the Vinegar syndrome with Present and New Techniques. by Morten jacobsen Denmark. 35
http://www.geocities.com/hollywood/Academy/9772/whatsnew/vinegar.htm

Extractions: Denmark 35 years is a long time for a human being. It is about half his life. Starting out at 22 making films as an amateur and idealist shooting films with friends and foe, going to festivals and sometimes winning that is fun. Turn it into a professional career and you begin to stack your tins. You continue to do that and it become part of your life that follows you as your luggage does when travelling. You tend to forget you have a collection because a lot of what you have done has already become history a few moments after it was screened for the first time and then forgotten. Film as luggage is fragile and conditions of storage less than ideal. They are still in the same tin and sometime the tin is rusty outside, sometimes inside and you never have the guts or time to open the tins. Then one day you pull yourself together and begin to open tins. You could say you were forced to do so because it is part of your next 35 years, and trust me 35 years is the onset point for the vinegar syndrome. As my life slid towards new opportunities in the seventies, the trend was to serve film libraries with film spools and cans; in the eighties, with the introduction of video distribution, I moved on to film storage; and the nineties towards preservation and observation of the problems that started more than 35 years ago. It seemed a unique opportunity to take your collection apart and see what the state of the art was.

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