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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

Conditions And Diseases - Jacobsen Syndrome Top Links
jacobsen syndrome Web Site Links. Danny s 11q Information Page A mother shares her story about having a son with jacobsen syndrome.
http://www.disease-resources.com/Top_Health_Conditions_and_Diseases_Rare_Disorde

Extractions: Related Healthcare Subjects Disabilities Environmental Health Fitness Health Insurance ... Men's Health Jacobsen Syndrome Web Site Links 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.
JACOBSEN SYNDROME: Contact A Family - For Families With Disabled Children: Infor
printer friendly, jacobsen syndrome, jacobsen syndrome was first described in 1973 by a Danish geneticist, Dr Petrea Jacobsen. It
http://www.cafamily.org.uk/Direct/j10.html

Extractions: helpful? yes no Jacobsen syndrome was first described in 1973 by a Danish geneticist, Dr Petrea Jacobsen. It is a rare chromosomal condition which affects about one in every 100,000 births. Jacobsen syndrome is associated with a recognisable pattern of features. The children are usually of a pleasant disposition with a characteristic face, somewhat more pear shaped than normal. However, there is also some developmental delay which basically means learning difficulties (see entry, Learning Disability ) varying from mild to more severe; speech and language may also be slow to develop and growth may be slower. However, heart problems such as an enlarged left heart syndrome (see entry, Heart Defects ) can be more debilitating, sometimes requiring surgery. Blood disorders, mainly in the form of easy bruising and prolonged bleeding due to low numbers of platelets (thrombocytopenia - reduction in the number of platelets present in the blood and refered to as Paris-Trousseau syndrome) are common. Gastrointestinal problems including a narrowing of the outlet from the stomach to the small intestine (pyloric stenosis) and frequent respiratory problems also are seen. Individuals with Jacobsen syndrome may show some or all of these features although there is great variability in the number and severity of symptoms.
Rare Disorders: Jacobsen Syndrome
Rare Disorders jacobsen syndrome. Includes photos. Institute of Child Health jacobsen syndrome. Clinical synopsis, plus research summaries.
http://www.puredirectory.com/Health/Conditions-and-Diseases/Rare-Disorders/Jacob

Extractions: Home Health Conditions and Diseases Rare Disorders : Jacobsen Syndrome google_ad_client = 'pub-3272565765518472';google_ad_width = 336;google_ad_height = 280;google_ad_format = '336x280_as';google_color_border = 'FFFFFF';google_color_bg = 'FFFFFF';google_ad_channel ='7485447737';google_alternate_color = 'FFFFFF';google_color_link = '0000FF';google_color_url = '008000';google_color_text = '000000';
Jacobsen Syndrome Right Side
jacobsen syndrome 11q terminal deletion disorder. 1. jacobsen syndrome. The European Chromosome 11q Network officially started 11 June 1997.
http://www.11q.org/jacobsen_syndrome_r.htm

Extractions: This page provides information about Jacobsen Syndrome, a deletion of the long arm of chromosome 11, also called the 11q terminal deletion disorder. Other disorders on the long arm can be found at the page with characteristics Jacobsen Syndrome Behaviour research Other information 1. Jacobsen Syndrome The European Chromosome 11q Network officially started 11 June 1997. Over the years it is shown that about 50 % of the children who became member of the Network are missing the last part of the long arm of chromosome 11 ; this is called 11q terminal deletion disorder or Jacobsen Syndrome. In 1997 the Network found contact to Dr Paul Grossfeld (San Diego, USA) who became the expert on children with a 11q terminal deletion disorder. On this page the 11q Network collects data on the 11q terminal deletion supported by Paul Grossfeld. Newyear 2004 , Ask Dr Grossfeld Abstract in English, Deutsch, Nederlands, Italiano, Español and Francai
Jacobsen Syndrome - Data - 1999 - Nederlands
Data jacobsen syndrome patients, by Dr. Paul Grossfeld, 1998/1999. Recent data can be found here. Gegevens van 70 JS patiënten, inclusief
http://www.11q.org/DataJS99_ned.htm

Extractions: Data Jacobsen Syndrome patients, by Dr. Paul Grossfeld, 1998/1999. Recent data can be found here Gegevens van 70 JS patiënten, inclusief de kinderen van de conferenties in Europa (Ede/Lunteren, maart 98) en San Diego (augustus 1998) (51 vrouwen/19 mannen) Ocular Coloboma (colomboom van het oog) Ptosis (afhangende oogleden) Carp Mouth ("karpermond", "vissenmond" High Palate (hooggewelfd gehemelte) Heart Defect (hartafwijking) Pyloric Stenosis (in Nederland bekend als Pyforus Hypertroifie, vernauwing van de uitgang van de maag door een verdikte sluitspier) Chronic Constipation (chronische opstipatie) Undescended Testes (niet ingedaalde testikels) Decreased Platelets (te weinig bloedplaatjes) Recurrent Infections (recidiverende, terugkerende infecties) Eczema (eczeem) Fam Hx Heterochromia (het in de familie voorkomen van ogen in twee verschillende kleuren) San Diego, September 3, 1999
Chromosome 11, Partial Monosomy 11q
Colocalisation of CCG repeats and chromosome deletion breakpoints in jacobsen syndrome evidence for a common mechanism of chromosome breakage.
http://www.bchealthguide.org/kbase/nord/nord641.htm

Extractions: It is possible that the main title of the report 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. Information on the following diseases can be found in the Related Disorders section of this report: 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.
Triploid Syndrome
search term in the Rare Disease Database.) Chromosome 11, Monosomy 11q (jacobsen syndrome) is a rare genetic disorder affecting the long arm of chromosome 11.
http://www.bchealthguide.org/kbase/nord/nord710.htm

Extractions: It is possible that the main title of the report 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. Information on the following diseases can be found in the Related Disorders section of this report: Triploid Syndrome is an extremely rare chromosomal disorder. Individuals with triploid syndrome have three of every chromosome for a total of sixty-nine rather than the normal forty-six chromosomes. Babies with Triploid Syndrome usually are lost through early miscarriage. However, some infants have been born and survived as long as five months. Affected infants are usually small and have multiple birth defects. Those that survive are usually mosaic, meaning that some cells have the normal number of 46 chromosomes and some cells have a complete extra set of chromosomes. Triploid Syndrome may include larger than normal size placenta, lack of prenatal skeletal growth, widely spaced eyes (ocular hypertelorism), low nasal bridge, low-set malformed ears and a smaller than normal sized jaw. The third and fourth fingers of the hands may be connected and the hands may have unusual simian creases. The infant may have congenital heart defects and genital abnormalities may be present in males. There may be abnormal brain development, lack of development of the adrenal glands and cystic kidneys. Growth of the brain or spinal cord outside of the body (neural tube defects), openings in the abdominal wall, an unusually shaped skull and cleft lip and/or palate have also been observed. There may also be liver and gallbladder deformities, twisted colon and finger and toe deformities. Individuals who are mosaic will survive longer than those with complete triploidy but usually have mental retardation.
Jacobsen Syndrome
Home Health Conditions and Diseases Rare Disorders jacobsen syndrome (4) Institute of Child Health An article with an explanation of jacobsen syndrome.
http://www.thenewhealthfind.com/Health/ConditionsandDiseases/RareDisorders/Jacob
Hydrocephalus
Hereditary Spastic Paraplegia (6) Homocystinuria@ (4) Huntington s@ (28) Hydrocephalus@ (54) Incontinentia Pigmenti (7) jacobsen syndrome@ (4) Joubert ..
http://www.thenewhealthfind.com/health/hydrocephalus

Extractions: hydrocephalus Directory Home: Health: Conditions and Diseases: Neurological Disorders: Hydrocephalus (54) Associations (5) Personal Pages (18) Support Groups (3) Treatments (12) See Also: Health: Conditions and Diseases: Genetic Disorders Health: Conditions and Diseases: Neurological Disorders: Brain Diseases Health: Conditions and Diseases: Neurological Disorders: Congenital Anomalies Health: Conditions and Diseases: Neurological Disorders: Congenital Anomalies: Dandy Walker Syndrome Health: Conditions and Diseases: Neurological Disorders: Trauma and Injuries: Brain Injury Health: Conditions and Diseases: Rare Disorders Hydrocephalus Center - Patient centered guide to hydrocephalus information, resources, and reading material. H-Tx Rat - Hydrocephalus Directory Home: Health: Conditions and Diseases: Neurological Disorders: Hydrocephalus : Personal Pages (18) Mafalda's Homepage - Experiences with hydrocephalic daughter, information, photos and updates on progress. (English/Portuguese) The Riccio Boys - Photos and family updates on the Riccio brothers. Family updates and hydrocephalus treatment information. Sarah's Story - Accounts a parents' experiences with their daughter through diagnosis and treatments during her first two years. Steve Drake's
Chromosome 11, Partial Monosomy 11q
disorder subdivision(s) covered by this report. Synonyms jacobsen syndrome; JBS; Deletion 11q Syndrome, Partial; Distal 11q Syndrome;
http://my.webmd.com/hw/parenting_and_pregnancy/nord641.asp

Extractions: 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.
:: Ez2Find :: Jacobsen Syndrome
Guide jacobsen syndrome, Global Metasearch Any Language Guides, jacobsen syndrome. ez2Find Home Directory Health
http://ez2find.com/cgi-bin/directory/meta/search.pl/Health/Conditions_and_Diseas

Extractions: Any Language English Afrikaans Arabic Bahasa Melayu Belarusian Bulgarian Catala Chinese Simplified Chinese Traditional Cymraeg Czech Dansk Deutsch Eesti Espanol Euskara Faroese Francais Frysk Galego Greek Hebrew Hrvatski Indonesia Islenska Italiano Japanese Korean Latvian Lietuviu Lingua Latina Magyar Netherlands Norsk Polska Portugues Romana Russian Shqip Slovensko Slovensky Srpski Suomi Svenska Thai Turkce Ukrainian Vietnamese Mode
Chromosome 11, Partial Monosomy 11q - Quest Diagnostics Patient Health Library
s) covered by this report. Synonyms. jacobsen syndrome; JBS; Deletion 11q Syndrome, Partial; Distal 11q Syndrome; Distal 11q Monosomy;
http://www.questdiagnostics.com/kbase/nord/nord641.htm

Extractions: It is possible that the main title of the report 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. 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.
Chromosome 11 Partial Monosomy 11q,Jacobsen Syndrome,JBS,Deletion 11q Syndrome P
Chromosome 11 Partial Monosomy 11q,jacobsen syndrome,JBS,Deletion 11q Syndrome Partial,Distal 11q Syndrome,Distal 11q Monosomy,11q- Syndrome Partial,Monosomy
http://www.icomm.ca/geneinfo/ch11pm.htm

Extractions: 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.
Definitions Of Genetic Disorders-J
west.htm JacksonWeiss Craniosynostosis jacksonweiss.htm Jackson-Weiss Syndrome jacksonweiss.htm Jacksonian Epilepsy epilepsy.htm jacobsen syndrome ch11pm.htm
http://www.icomm.ca/geneinfo/def-j.htm
Jacobsen Syndrome Reference Database (by Author)
http://web.ukonline.co.uk/c.jones/11q/frauth.htm
OMIM Entries For Jacobsen Syndrome
OMIM entries for jacobsen syndrome. Brief description of jacobsen syndrome and research to date, and the clinical synopsis. OMIM
http://web.ukonline.co.uk/c.jones/frames/omim.htm

Extractions: 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. Brief description of Jacobsen syndrome and research to date, and the clinical synopsis. Brief description of this related condition and its clinical synopsis. Perform your own searches of the OMIM database for information on other genetic conditions.
Jacobsen Syndrome : Meddie Health Search
ITEMS LINKS Institute of Child Health An article with an explanation of jacobsen syndrome. (Rating 0.00 Votes 0) Rate It. The
http://www.meddie.com/Conditions_and_Diseases/Rare_Disorders/Jacobsen_Syndrome/
OMIM - JACOBSEN SYNDROME; JBS
http://www3.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=147791
PillSupplier.com - Conditions And Diseases/Rare Disorders/Jacobsen Syndrome
Category jacobsen syndrome. HOME ABOUT US ORDER STATUS BMI CALCULATOR FAQ CONTACT US. Conditions and Diseases/Rare Disorders/jacobsen syndrome. Links
http://www.pillsupplier.com/dir/973/
PillSupplier.com - Detailed View " Institute Of Child Health: Jacobsen Syndrome
Home Conditions and Diseases Rare Disorders jacobsen syndrome Institute of Child Health jacobsen syndrome. Title Institute
http://www.pillsupplier.com/dir/detail/11244.html

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