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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

Abstract
Dysmorphic features in 37 patients with the jacobsen syndrome. CSPerrotta1, A.Zingale 1, PD Grossfeld 2,C. Jones3A. Ragusa,4 and T. Mattina1.
http://web.feccbologna.it/7_77.htm

Extractions: ABSTRACT Dysmorphic features in 37 patients with the Jacobsen Syndrome. C.S.Perrotta , A. Zingale , P.D. Grossfeld ,C. Jones A. Ragusa, and T. Mattina Genetica Medica Dept. Pediatrics University of Catania Italy Institute of Molecular Medicine/Division of Pediatric Cardiology University of California, San Diego USA Molecular Genetics Unit, Genome Centre, Bart's and The London, QM School of Medicine, United Kingdom. Laboratorio di Patologia Genetica IRCCS Oasi M. SS. Troina A cohort of 107 patients with rearrangements of chromosome 11q, was ascertained through the European and American 11q support groups, physician referral, or directly by parental contact made available through the internet. 69 patients had full assessment of dysmorphic features of face, hands and feet. 37 patients with terminal deletion of chromosome region 11q (Jacobsen Syndrome) were selected within this group. Deletion breakpoints were mapped using Fluorescence in Situ Hybridization (FISH) of genomic DNA clones onto metaphase chromosomes from the patients, or using haplotype analysis of polymorphic microsatellite markers. Dysmorphological analysis included 75 features selected from face, hands and feet. All patients were assessed by a single medical geneticist, but photographs of face (front and sides), hands and feet were further evaluated by two medical geneticists.
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In jacobsen syndrome, CGG repeat expansion causes chromosome breakage at FRA11B,resulting in deletion of the distal part of the long arm of chromosome 11
http://www.blackwell-synergy.com/doi/abs/10.1046/j.1466-9218.2001.00013.x

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9p syndrome (OMIM 158170) and del(11)(q23q24) or jacobsen syndrome (OMIM region for calvarian suture anomalies in jacobsen syndrome was distal to
http://www.blackwell-synergy.com/doi/abs/10.1111/j.1399-0004.2005.00438.x

Extractions: Home An Error Occurred Setting Your User Cookie A cookie is a small amount of information that a web site copies onto your hard drive. Synergy uses cookies to improve performance by remembering that you are logged in when you go from page to page. If the cookie cannot be set correctly, then Synergy cannot determine whether you are logged in and a new session will be created for each page you visit. This slows the system down. Therefore, you must accept the Synergy cookie to use the system. What Gets Stored in a Cookie? Synergy only stores a session ID in the cookie, no other information is captured. In general, only the information that you provide, or the choices you make while visiting a web site, can be stored in a cookie. For example, the site cannot determine your email name unless you choose to type it. Allowing a web site to create a cookie does not give that or any other site access to the rest of your computer, and only the site that created the cookie can read it. Please read our for more information about data collected on this site.
Rarelink.net - Diagnoselisten Jacobsen Syndrome
Du er her Hjem Diagnoselisten jacobsen syndrome 11qsyndromet,Jacobsen syndrom; 11q deletion syndrome, jacobsen syndrome.
http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=131
Rarelink.net - Diagnoselisten Jacobsen Syndrome (11q Deletion
Du er her Hjem Diagnoselisten jacobsen syndrome (11q deletion syndrome) 11qsyndromet, Jacobsen syndrom; 11q deletion syndrome, jacobsen syndrome.
http://www.rarelink.no/diagnosedetail.jsp?diagnoseId=131&synonymId=269
Ucsu.colorado.edu/~biasca/jacobsens.html
Congenital disorder Facts, Info, and Encyclopedia article(Click link for more info and facts about jacobsen syndrome) jacobsen syndrome (Clicklink for more info and facts about KarschNeugebauer syndrome)
http://ucsu.colorado.edu/~biasca/jacobsens.html
Chromosome -- Facts, Info, And Encyclopedia Article
(Click link for more info and facts about jacobsen syndrome) jacobsen syndrome,also called the terminal 11q deletion disorder. A very rare disorder.
http://www.absoluteastronomy.com/encyclopedia/c/ch/chromosome.htm

Extractions: A chromosome (in (A native or inhabitant of Greece) Greek chroma = colour and soma = body) is, minimally, a very long, continuous piece of ((biochemistry) a long linear polymer found in the nucleus of a cell and formed from nucleotides and shaped like a double helix; associated with the transmission of genetic information) DNA , which contains many ((genetics) a segment of DNA that is involved in producing a polypeptide chain; it can include regions preceding and following the coding DNA as well as introns between the exons; it is considered a unit of heredity) gene s, (Click link for more info and facts about regulatory element) regulatory element s and other intervening (Click link for more info and facts about nucleotide sequences) nucleotide sequences . In the chromosomes of (An organism with cells characteristic of all life forms except primitive microorganisms such as bacteria; i.e. an organism with `good' or membrane-bound nuclei in its cells)
Detailed Diagnostic Potential For CMA Version 4.0
147791, JBS, jacobsen syndrome, 11q24.3 deletion. 180200, RB1, Retinoblastoma,13q14 deletion. RB1. 603073, HPE5, Holoprosencephaly 5, 13q32.3 deletion
http://www.bcmgeneticlabs.org/tests/cyto/cma-detailed-4.html

Extractions: Gene mutations or genomic rearrangements such as deletions or duplications less than 100kb in size will not be detected by this assay. In addition, this assay is not suitable to detect uniparental disomy, imprinting defects, or other epigenetic mutations. OMIM# Loci Abnormalites detected by CMA Cytogenetic Abnormalities Genes Subtelomeric deletion/duplication for all chromosome arms All subtelomeres exluding the short arm of the acrocentric chromosomes Aneuploidy for chromosomes 13,18, 21, X, and Y 1p36 deletion and/or duplication 1p36 deletion and /or duplication Nephronophthisis 2q13 homozygous deletion WHS Wolf-Hirschhorn syndrome 4p16.3 deletion Rieger syndrome 4q25 deletion CdCS Cri-du-Chat syndrome 5p15.2 deletion CdLS Cornelia de Lange syndrome 5p13.2 deletion NIPBL SOS Sotos syndrome 5q35 deletion CCD Cleidocranial dysplasia 6p21.1 deletion SCS Saethre-Chotzen syndrome 7p21.1 deletion TWIST GCPS Greig cephalopolysyndactyly syndrome 7p13 deletion WBS Williams-Beuren syndrome 7q11.2 deletion
Gene GC_JBS
JBS (jacobsen syndrome) Entrez_Gene JBS 3719 jacobsen syndrome. Cards.GeneCards JBS Ensembl JBS CancerGene JBS Genatlas JBS
http://www.infobiogen.fr/services/chromcancer/Genes_gc/GC_JBS.html

Extractions: Home Genes Leukemias Solid Tumours ... JBS Location Note Non-annotated gene. Preliminary data : if you wish to write this card, go to How to contribute External links Nomenclature Hugo JBS GDB JBS ... JBS 3719 Jacobsen syndrome Cards GeneCards JBS Ensembl JBS ... euGene Genomic and cartography GoldenPath JBS Ensembl JBS - [CytoView] ... Gene Seq [Map View - NCBI] OMIM Disease map [OMIM] HomoloGene JBS Gene and transcription Genbank [ SRS ] [ ENTREZ ] AceView JBS AceView - NCBI TRASER JBS Traser - Stanford Protein : pattern, domain, 3D structure Polymorphism : SNP, mutations, diseases OMIM [ map ] GENECLINICS SNP ... JBS [dbSNP-NCBI] SNP JBS [GeneSNPs - Utah] JBS [SNP - CSHL] JBS] [HGBASE - SRS] General knowledge Family Browser JBS [UCSC Family Browser] PubGene JBS Other databases Probes Probe JBS Related clones (RZPD - Berlin) PubMed Genes in title automatic search in PubMed REVIEW articles automatic search in PubMed Last year publications automatic search in PubMed BiblioGene - INIST Contributor(s) Written Dessen P., Le Minor S.
List Of Diseases Starting With J: Information From Answers.com
JacksonWeiss syndrome; Jacobs syndrome; jacobsen syndrome; Jadassohn Lewandowskysyndrome; Jaffer Beighton syndrome; Jalili syndrome; Jancar syndrome
http://www.answers.com/topic/list-of-diseases-starting-with-j

Extractions: showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Or search: - The Web - Images - News - Blogs - Shopping List of diseases starting with J Wikipedia List of diseases starting with J A list of diseases in the English wikipedia. A B C D ... I J K L M N ... Z
OMIM Entry 602574
suggested that this locus may also be implicated in jacobsen syndrome, as a characteristic feature of jacobsen syndrome by Lee and Sciorra (1981),
http://www.hgmp.mrc.ac.uk/cgi-bin/wrapomim?602574
Cryo Bio System Assisted Reproduction Technologies DNA Micro
PallisterKillian Syndrome. jacobsen syndrome. Multipe Exostoses II. Potocki-ShaferSyndrome Syndrome. WAGR Syndrome. Beckwith-Wiedemann Syndrome
http://www.cryobiosystem-imv.com/PMA/prodnew8_pma.asp

Extractions: cryopreservation A.R.T. gynecology fertility ... site map Full range of DNA Micro-arrays for genomic testing in the field of Assisted Reproduction Technologies, and pre or post natal diagnosis: Our micro-arrays generate a whole genome molecular profiling and allows quantification of chromosomal imbalances. Each micro-array contains the clones necessary for a complete screening covering: chromosomes involved in all major aneuploidies microdeletion syndromes: Smith-Magenis Syndrome Charcot-Marie-Tooth Disease Miller-Dieker Syndrome Rubinstein-Taybi Syndrome Prader-Willi Syndrome Angelman Syndrome Retinoblastoma Pallister-Killian Syndrome Jacobsen Syndrome Multipe Exostoses II Potocki-Shafer Syndrome Syndrome WAGR Syndrome Beckwith-Wiedemann Syndrome Langer-Giedion Syndrome William's Syndrome Cri du Chat Syndrome Wolf-Hirschhorn Syndrome Cornelia De Lange Syndrome telomeric regions (6 to 10 clones for each telomere).
Karger Publishers
However, the majority of jacobsen syndrome patients however do not have theirbreakpoint at this location, but more distally on 11q (Michaelis et al.,
http://content.karger.com/ProdukteDB/produkte.asp?Aktion=ShowFulltext&ProduktNr=
Library Page Numbers 10 To 15
jacobsen syndrome, OMIM entry 2000 Partial deletion of long arm of chromosome11 del(11)(q24) in a patient presenting with behavioral disturbances Turgut
http://www.chromodisorder.org/sytrix/card_list.php3?dbid=80&maxlist=10
Gail Anderson Stapleton, M.S., C.G.C.
Gail serves on the board of the Down Syndrome Family Alliance of Greenville as well Terawaki H, and Chapman S. Prenatal Diagnosis of jacobsen syndrome.
http://www.ggc.org/faculty/anderson.html

Extractions: Who to Contact Site Index Search GGC Website var MenuLinkedBy='AllWebMenus [4]', awmBN='622'; awmAltUrl=''; Gail has been with the Greenwood Genetic Center since 1989, first as a genetic caseworker and now as a genetic counselor. She works primarily in pediatrics and has a special interest in working with support groups. Gail serves on the board of the Down Syndrome Family Alliance of Greenville as well as the national 22q13 Deletion Syndrome Foundation. She coordinates and facilitates parent groups for Fragile X syndrome, Angelman syndrome, and Rett syndrome, and serves as facilitator for the Muscular Dystrophy Association's family network. Schwartz CE, May M, Huang T, Ledbetter D, Anderson G, Barker DF, Lubs HA, Arena F, and Stevenson RE. MRX8: An X-linked mental retardation condition with linkage to Xq21. Am J Med Genet, 43:467-474, 1992. Rogers RC and Anderson G.
Rarelink.net - Diagnoselisten Jacobsen Syndrom (11q Deletion
Jacobsen syndrom (11q deletion syndrome) jacobsen syndrome; 11q deletionsyndrome, Jacobsens syndrom; 11qsyndromet, Jacobsen syndrom
http://www.rarelink.dk/diagnosedetail.jsp?diagnoseId=131&synonymId=269
Rarelink.net - Diagnoselisten Jacobsen Syndrom
jacobsen syndrome; 11q deletion syndrome, Jacobsens syndrom; 11qsyndromet,Jacobsen syndrom; 11q deletion syndrome, jacobsen syndrome.
http://www.rarelink.dk/diagnosedetail.jsp?diagnoseId=131
PharmGKB Browse Genes By HGNC Symbol And Name
Name jacobsen syndrome. JBTS1. Name Joubert syndrome 1. Literature AnnotationsAvailable. JMJ. Name jumonji homolog (mouse)
http://www.pharmgkb.org/search/browse/genes.jsp?r=J
Identification Of FMR2, A Novel Gene Associated With The FRAXE CCG Repeat And Cp
Physical linkage of the fragile site FRA11B and a jacobsen syndrome chromosomedeletion breakpoint in 11q23.3. Hum. Mol. Genet. 3, 21232130 (1994).
http://www.nature.com/ng/journal/v13/n1/abs/ng0596-109.html

Extractions: @import "/ng/style.css"; NATURE.COM NEWS@NATURE.COM NATUREJOBS NATUREEVENTS ... Help E-MAIL: PASSWORD: Save password Forgotten password? SEARCH JOURNAL Advanced search Journal home Archive Table of Contents ... For librarians NPG Resources Nature Nature Cell Biology Nature Medicine Nature Reviews Genetics ... Browse all publications Letter Nature Genetics doi:10.1038/ng0596-109 Yanghong Gu , Ying Shen , Richard A. Gibbs Department of Molecular and Human Genetics, Human Genome Center, Baylor College of Medicine, 902E, One Baylor Plaza, Houston, Texas 77030, USA Correspondence should be addressed to D.L.N. Five folate-sensitive fragile sites have been identi-fied at the molecular level to date . Each is characterized by an expanded and methylated trinucleotide repeat of CGG (CCG). Of the three X chromosome sites, FRAXA FRAXE and FRAXF , the former two are associated with mental retar-dation in their expanded forms. FRAXA expansion results in fragile X syndrome due to down regula-tion of expression of the gene, which carries the hypermutable CGG repeat in the 5' untranslated portion of its first exon
Interstitial Deletion Of Chromosome 11 (q22.3-q23.2) In A Boy With Mild Developm
The fragile site at 11q23.3 (FRA11B) is linked to some jacobsen syndrome Localization of jacobsen syndrome breakpoints on a 40Mb physical map of distal
http://jmg.bmjjournals.com/cgi/content/full/38/9/621

Extractions: Vol Page [Advanced] This Article Extract Full Text (PDF) Submit a response ... Alert me if a correction is posted Services Email this link to a friend Similar articles in this journal Similar articles in PubMed Alert me to new issues of the journal ... Download to citation manager PubMed PubMed Citation Articles by Syrrou, M Articles by Fryns, J-P Related Collections Genetics J Med Genet 621-624 ( September ) M Syrrou, J-P Fryns Centre for Human Genetics, University of Leuven, Herestraat 49, B-3000 Leuven, Belgium

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