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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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Abstract
ABSTRACT. Mapping of the deleted segment in patient with jacobsen syndrome. J. Brezinova jacobsen syndrome was first observed in 1973. It is
http://web.feccbologna.it/7_9.htm
Abstract
Dysmorphic features in 37 patients with the jacobsen syndrome. CS.Perrotta 1 , A. Zingale 1 , PD Grossfeld 2 ,C. Jones 3 A. Ragusa, 4 and T. Mattina 1 .
http://web.feccbologna.it/7_77.htm
NodeWorks - Rare Disorders: Jacobsen Syndrome
jacobsen syndrome (11q Deletion, or 11q) is a rare chromosomal abnormality which affects perhaps one child in 100000 in which a portion of the 11th chromosome
http://dir.nodeworks.com/Health/Conditions_and_Diseases/Rare_Disorders/Jacobsen_

Extractions: in entire NodeWorks Directory in Health in Rare Disorders in ++ Jacobsen Syndrome Top Health Rare Disorders Jacobsen Syndrome Jacobsen 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 Syndrome." Institute of Child Health: Jacobsen Syndrome Clinical synopsis, plus research summaries. The Fragile WEB Site Includes a reference database, family support groups and clinical information.
Program Nr 2381
Prenatal diagnosis of jacobsen syndrome. jacobsen syndrome is a contiguous gene deletion syndrome caused by the deletion of chromosome 11q23 to qter.
http://www.faseb.org/genetics/ashg00/f2381.htm

Extractions: Jacobsen syndrome is a contiguous gene deletion syndrome caused by the deletion of chromosome 11q23 to qter. Persons with this deletion exhibit a variety of characteristics, including moderate to severe psychomotor retardation, trigonocephaly, heart defects, hypertelorism, low-set dysmorphic ears, and small stature. Prenatal diagnosis of Jacobsen syndrome has been previously reported for only a single case (McClelland et al., 1998). In this case report, the only abnormality detected at ultrasound was nuchal thickening. Examination after birth revealed other findings consistent with Jacobsen syndrome. Our patient, a 37 year old G3P2 was referred at 22 weeks gestation for a genetic amniocentesis because of advanced maternal age and increased nuchal thickness on routine ultrasound. Targeted ultrasound at amniocentesis revealed multiple congenital anomalies including nuchal thickening from the base of the skull to the upper thoracic spine, a hypoplastic left heart, an irregularity of the lumbosacral area of the spine, bilateral clubbed feet, a widened iliac angle, and low-set ears. Fetal echocardiogram confirmed the heart defect. FISH results for aneuploidy were normal. The complete karyotype of the fetus revealed a terminal deletion of chromosome 11q23. The pregnancy was terminated at 23 weeks. The family declined postmortem examination. The parents' karyotypes were normal and neither expressed the folate-sensitive fragile site found at 11q23.3, FRA11B.To our knowledge, prenatal diagnosis of Jacobsen syndrome has previously been reported in only one other case.
Program Nr 647
Program Nr 647 Are the phenotypic features of a large interstitial deletion 11q14.211q23.1 distinct from jacobsen syndrome (terminal deletion 11q)?
http://www.faseb.org/genetics/ashg00/f647.htm

Extractions: Program Nr: 647 Are the phenotypic features of a large interstitial deletion 11q14.2-11q23.1 distinct from Jacobsen Syndrome (terminal deletion 11q)? C. Theda , E.M. Garcia Soto , C.B. Cargile , N. Hendi , M.K. Miller 1) Johns Hopkins University School of Medicine, Baltimore, MD; 2) Kennedy Krieger Institute, Baltimore, MD; 3) Frederick Memorial Hospital, Frederick, MD. The majority of patients with deletions of chromosome 11q reported in the literature have terminal deletions distal to 11q23. It has been postulated that band 11q24.1 is the critical region for the phenotype - which is also referred to as Jacobsen syndrome. This phenotype includes growth and mental retardation, initial hypotonia with later spasticity, trigonocephaly, eye and midface abnormalities, carp shaped mouth, cleft lip and palate, congenital heart defects, and thrombocytopenia. Our review of the literature identified only two reports of patients with interstitial deletions of chromosome 11q. Deleted regions were 11q21-11q23 and 11q22.3-11q23.2. The reported features of the patients that appeared to be distinct from Jacobsen syndrome were Pierre Robin sequence and Ebstein anomaly of the heart. We report here a female patient with a 46,XX,del(11)(q14.2q23.1) karyotype. The proband was born vaginally at 38 wks with a birth weight of 2655 g. The infant appeared floppy. Dysmorphic features including depressed nasal bridge, small nose, anteverted nares and significant micrognathia were noted. The fifth toes were both displaced dorsally and overlapped the fourth toes. Further evaluation revealed high but intact palate, cardiac murmur due to peripheral pulmonary stenosis and patent foramen ovale, no thrombocytopenia. Her postnatal course was dominated by feeding difficulties due to the micrognathia and extremely poor suck-swallow coordination. The initial hypotonia resolved and increasing muscle tone and spasticity developed.
Chromosome Disorders
The Fragile Web Site (jacobsen syndrome, 11q minus) Provides information on Chromosome 11 abnormalities, especially jacobsen syndrome (11q minus).
http://rarediseases.about.com/od/chrosomedisorders/

Extractions: zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Types of Diseases Chromosome Disorders Home Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Rare cancers zau(256,152,145,'gob','http://z.about.com/5/ad/go.htm?gs='+gs,''); Is it a Rare Disease? Rare Diseases A - B Rare Diseases C - D Rare Diseases E - H ... Help zau(256,138,125,'el','http://z.about.com/0/ip/417/0.htm','');w(xb+xb); Subscribe to the About Rare / Orphan Diseases newsletter. zau(256,152,100,'hs','http://z.about.com/5/ad/hs.htm?zIhsid=00',''); Search Rare / Orphan Diseases 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. Alphabetical Recent Up a category Abetalipoproteinemia Article describes the disorder, its symptoms, diagnosis, and treatment. From the About.com Guide to Rare/Orphan Diseases. Chromosome 9p Network Provides information, guest book, news, and links.
Wuup.de - /Health/Conditions_and_Diseases/Rare_Disorders
Translate this page jacobsen syndrome. Siehe auch Includes photos. » Institute of Child Health jacobsen syndrome - Clinical synopsis, plus research summaries.
http://wuup.de/index.php/Health/Conditions_and_Diseases/Rare_Disorders/Jacobsen_
Malattie Rare E Genetiche Lettera "J"
Translate this page Sindrome diMonosomia Parziale 11qJacobsen SyndromJBS/11q Deletiuon Syndrome/Partial 11q Monosomy Syndromejacobsen syndrome deJacobsen, Síndrome de
http://fmfpc.altervista.org/J.htm
Hum. Mol. Genet. -- Abstracts: Jones Et Al. 3 (12): 2123
Press. ARTICLES. Physical linkage of the fragile site FRA11B and a jacobsen syndrome chromosome deletion breakpoint in 11q23.3. C Jones
http://hmg.oupjournals.org/cgi/content/abstract/3/12/2123

Extractions: 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 reported Jacobsen syndrome child are FRA11B carriers, suggesting that in vivo breakage at the fragile site during early development could have given rise to the chromosome deletion. We have tested this hypothesis by high
Electricbrain Home: Index: Health: Conditions And Diseases: Rare Disorders: Jaco
electricbrain Index Health Conditions and Diseases Rare Disorders jacobsen syndrome, home index write privacy. Funny quotes Be
http://www.electricbrain.com/index/Health/Conditions_and_Diseases/Rare_Disorders

Extractions: Another possible source of guidance for teenagers is television, but television's message has always been that the need for truth, wisdom and world peace pales by comparison with the need for a toothpaste that offers whiter teeth *_and* fresher breath. Dave Barry, "Kids Today: They Don't Know Dum Diddly Do"
Human Genetics - Human Telomere 11q
WY;Richards, RI;Tunnacliffe, A. (1994) Physical linkage of the fragile site FRA11B and a jacobsen syndrome chromosome deletion breakpoint in 11q23.3. Hum Mol
http://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.
Mental Retardation, Directory
Å. jacobsen syndrome. Inc. (GAPS) Analysis of jacobsen syndrome, G2D GeneCard for BARX2 What is Jacobsen s (or 11q Deletion) Syndrome?
http://www.saunalahti.fi/kup/engl/webs_j.html
The Medword List - Medical Transcription Directory - The Medword List - Conditio
Top Level Conditions and Diseases Rare Disorders jacobsen syndrome. Links Institute of Child Health An article with an explanation of jacobsen syndrome.
http://www.medwordlist.com/Conditions_and_Diseases/Rare_Disorders/Jacobsen_Syndr
List Of Rare Diseases Starting With J
JacksonWeiss syndrome; Jacobs syndrome; jacobsen syndrome; Jadassohn Lewandowsky syndrome; Jaffer Beighton syndrome; Jalili syndrome;
http://www.fact-index.com/l/li/list_of_rare_diseases_starting_with_j.html

Extractions: Main Page See live article Alphabetical index This list of rare diseases was originally taken from the NIH public domain resource at http://ord.aspensys.com/asp/diseases/diseases.asp A B C ... I J K L M N ... Z Jackson-Weiss syndrome Jacobs syndrome Jacobsen syndrome Jadassohn Lewandowsky syndrome Jaffer Beighton syndrome Jalili syndrome Jancar syndrome Jankovic Rivera syndrome Jansen type metaphyseal chondrodysplasia Jansky-Bielschowsky disease Japanese encephalitis Jarcho-Levin syndrome Jejunal atresia Jensen syndrome Jequier Kozlowski skeletal dysplasia Jervell Lange-Nielsen syndrome Jeune syndrome situs inversus Jeune syndrome Job syndrome Johanson Blizzard syndrome Johnson Hall Krous syndrome Johnson Munson syndrome Johnston Aarons Schelley syndrome Jones Hersh Yusk syndrome Jones syndrome Jorgenson Lenz syndrome Joseph disease Joubert syndrome bilateral chorioretinal coloboma Joubert syndrome Juberg Hayward syndrome Juberg Marsidi syndrome Judge Misch Wright syndrome Jumping Frenchmen of Maine Jung Wolff Back Stahl syndrome Juvenile cataract cerebellar atrophy myopathy mental retardation Juvenile dermatomyositis Juvenile gastrointestinal polyposis Juvenile gout Juvenile hyaline fibromatosis Juvenile macular degeneration hypotrichosis Juvenile muscular atrophy of the distal upper limb Juvenile myoclonic epilepsy Juvenile nephronophthisis Juvenile rheumatoid arthritis Juvenile temporal arteritis
J Med Genet -- Abstracts: Pivnick Et Al. 33 (9): 772
jacobsen syndrome report of a patient with severe eye anomalies, growth hormone deficiency, and hypothyroidism associated with deletion 11 (q23q25) and review
http://jmg.bmjjournals.com/cgi/content/abstract/33/9/772

Extractions: Department of Pediatrics, University of Tennessee, Memphis 38163, USA. We have evaluated a patient with Jacobsen syndrome. The patient presented with growth retardation, hypotonia, trigonocephaly, telecanthus, downward slanting palpebral fissures, bilateral inferior colobomas (of the iris, choroid, and retina), hydrocephalus, central nervous system (CNS) abnormalities, and an endocardial cushion defect, features commonly seen in
J Med Genet -- Syrrou And Fryns 38 (9): 621
region of the long arm of chromosome 11 (bands 11q23.311q24) are associated with a clinically recognisable phenotype, also called jacobsen syndrome (JS).
http://jmg.bmjjournals.com/cgi/content/full/38/9/621

Extractions: References E DITOR Deletions of the terminal region of the long arm of chromosome 11 (bands 11q23.3-11q24) are associated with a clinically recognisable phenotype, also called Jacobsen syndrome (JS). Reports on more proximal 11q deletions are rare. This is the second report describing a de novo interstitial deletion of the 11q22.3-q23.2 region. The first described a de novo interstitial deletion of
Glossary In Congenital Malformations
General Syndromes and Sequences Head. jacobsen syndrome (deletion 11q syndrome) · Genetics There is deletion of chromosome
http://moon.ouhsc.edu/kfung/JTY1/NeuroHelp/ZNG0BS01-J.htm

Extractions: 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.
KoreaMed - Basic Search
Korean. A Case of jacobsen syndrome. SHWOGH2@lycos.co.kr jacobsen syndrome is a clinical disorder characterized by a deletion of the terminal band 11q23.
http://www.koreamed.org/SearchBasic.php?RID=84490&DT=1&QY=J Korean Soc Neonatol
Health Conditions And Diseases Rare Disorders Jacobsen Syndrome
Health Conditions and Diseases Rare Disorders jacobsen syndrome Directory results Some web results for Rare Disorders jacobsen syndrome
http://world.ammissione.it/browse_/Health/Conditions_and_Diseases/Rare_Disorders
Www.geocities.com/CapitolHill/1703/JACOBSENS.html
WebGuest Directory Health Conditions and Diseases Genetic Spastic Paraplegia; Homocystinuria; Human Genetics; Huntington s; Hydrocephalus; Incontinentia Pigmenti; jacobsen syndrome; Joubert Syndrome;
http://www.geocities.com/CapitolHill/1703/JACOBSENS.html

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