61. Ask A Scientist - DiGeorge Syndrome What is the DiGeorge chromosomal defect? answer. digeorge syndrome is a genetic disease that causes the thymus not to form. The thymus is where lymphocytes http://www.hhmi.org/cgi-bin/askascientist/highlight.pl?kw=&file=answers/genetics

62. DiGeorge Syndrome DiGeorge s Syndrome (Thymic Hypoplasia). Selective Tcell deficiency resulting from failure of development of the 3rd and 4th pharygeal pouches (thymus, http://arapaho.nsuok.edu/~castillo/DiGeorgesyndrome.html

Home Table of Contents Overview Map Icon Legend IMMUNOPATHOLOGY Richard Castillo, OD,DO castillo@nsuok.edu new tree (TREE_ITEMS, TREE_TPL); Home 7. Categories of Immune Disorders 7.3 Deficiency states/Immunodeficiency Syndromes 7.3.1 Primary immunodeficiencies ... Primary (T-cell) cell-mediated deficiency DiGeorge syndrome Previous Next DiGeorge syndrome DiGeorge's Syndrome (Thymic Hypoplasia) Selective T-cell deficiency resulting from failure of development of the 3rd and 4th pharygeal pouches (thymus, parathyroids, C cells of thyroid) No cell-mediated response Tetany (from hypocalcemia) NOT GENETIC!  Due to intrauterine damage before the 8th week of gestation Partial DiGeorge's syndrome exists Nezelof's Sydrome: absent thymus but with normal parathyroids Top General Pathology Spring 2005 Powered By MindManager X5 Last updated:

63. NORD - National Organization For Rare Disorders, Inc. digeorge syndrome is a rare immunodeficiency disorder characterized by various The primary problem caused by digeorge syndrome is the repeated http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=DiGeorge Synd

64. DiGeorge Syndrome Topic - Unified Search Environment digeorge syndrome Topic Tree digeorge syndrome MSH/MH/D004062 CSP/PT/04279991 ICD9CM/PT/279.11 MSH/PM/D004062 DI GEORGE SYNDROME DXP/SY/NOCODE http://www.use.hcn.com.au/portals/shared/subject.`DiGeorge Syndrome`/home.html

DiGeorge Syndrome Topic Tree Definition: Congenital syndrome with the absence of the thymus and parathyroids causing impairment of cellular immunity. Immunoglobulin levels are normal. Synonyms and Source Vocabularies: DiGeorge Syndrome DI GEORGE SYNDROME THYMUS, HYPOPLASIA Pharyngeal pouch syndrome Thymic hypoplasia Congenital, Hereditary, and Neonatal Diseases and Abnormalities Congenital Abnormality Abnormalities, Drug-Induced Abnormalities, Multiple Abnormalities, Radiation-Induced Chromosome Disorders ... Genetic Diseases, Inborn

65. TheFetus.net - Interrupted Aortic Arch With Thymic Hypoplasia: DiGeorge Syndrome This is a case of interrupted aortic arch, part of the digeorge syndrome. Note the ascending aorta with the brachiocephalic vessels (type A) with http://www.thefetus.net/page.php?id=53

66. Caremark.com digeorge syndrome (also called congenital thymic hypoplasia, The prevalence of digeorge syndrome, is debated; the estimates range from 14000 to 16395. http://www.caremark.com/wps/portal/_s.155/5522/.cmd/ad/.pm/-/.c/1703/.ce/5535/.p

67. HUM-MOLGEN: Gene Involved In Digeorge Syndrome Identified news section of the international communication forum in human genetics hummolgen. http://hum-molgen.org/NewsGen/03-2001/msg04.html

home genetic news bioinformatics biotechnology ... register for news alert Gene Involved In Digeorge Syndrome Identified March, 1 2001 3:34 CATCH 22 In the 1 March issue of Nature (Vol. 410, No. 6824, 01 March 2001), researchers from Baylor College of Medicine in Texas pinpoint the gene behind one of the most common genetic diseases to affect humans: DiGeorge syndrome. The disease results in a broad spectrum of symptoms, including heart abnormalities, disruption of the immune system and facial morphology. DiGeorge syndrome affects around 1 in 4,000 babies born, and next to Down syndrome it is the most common genetic cause of heart defects. DiGeorge syndrome is caused by deletions of large sections of DNA from our smallest chromosome: chromosome 22. Up to one tenth of this chromosome’s 33 million DNA base pairs can be missing from the genome of DiGeorge syndrome patients. A large number of genes lie within this section of DNA (known as 22q11.2), but until now researchers have been unable to pinpoint the exact gene, or genes, which directly cause the disease. Antonio Baldini and colleagues used state-of-the-art genetic techniques to test a number of candidate genes in a mouse model of DiGeorge syndrome. This model allows them to identify a gene known as Tbx1— a control gene that switches on the expression of other genes during development—as being responsible for the main cardiac symptoms of the disease. The finding brings to an end the long search for a gene involved in DiGeorge syndrome, and provides scientists with insight into both the disease, and the normal development of complex organs like the heart.

68. Deconstructing DiGeorge Syndrome - Nature Genetics Deconstructing digeorge syndrome. Martina Schinke Seigo Izumo digeorge syndrome is the most frequent contiguousgene deletion syndrome in humans, http://www.nature.com/doifinder/10.1038/85784

@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 News and Views Nature Genetics doi:10.1038/85784 Deconstructing DiGeorge syndrome Cardiovascular Division, Beth Israel Deaconess Medical Center, Department of Medicine, Harvard Medical School, Boston, Massachusetts 02215, USA sizumo@caregroup.harvard.edu DiGeorge syndrome is the most frequent contiguous-gene deletion syndrome in humans, occurring with an estimated frequency of 1 in 4,000 live births. Extensive microdeletion mapping in a large number of affected individuals has failed to identify a single gene or a combination of genes commonly deleted. Two new studies implicate the transcription factor TBX1 as a key candidate gene for the aortic arch malformations seen in DGS, and are consistent with the concept that some congenital diseases are caused by a reduced dosage of genes that control development. However, a similar study focusing on the adaptor protein Crkol shows that other genes within the deleted regions might affect the same developmental pathways. Top Abstract Previous Table of contents Full text Download PDF ... Save this link See also: See also: Letter by Guris et al.

69. DiGeorge Syndrome digeorge syndrome is a rare immunodeficiency disorder characterized by various congenital abnormalities http://webcenter.health.webmd.netscape.com/hw/heart_disease/nord74.asp

var guid_source = ""; var guid_source_id = ""; //unused var encodedurl = ""; WebMD Today Home WebMD News Center XML News via RSS Member Services WebMD University My WebMD Find a Physician Medical Info Check Symptoms Medical Library Health Tools Clinical Trials ... Women, Men, Lifestyle Who We Are About WebMD Site Map You are in All Conditions ADD/ADHD Allergies Alzheimer's Arthritis Asthma Back Pain Bipolar Disorder Breast Cancer Cancer Cholesterol Management Dental Depression Diabetes Epilepsy Eye Health Heart Disease Hepatitis HIV/AIDS Hypertension Men's Conditions Mental Health Migraines/Headaches Multiple Sclerosis Osteoporosis Parkinson's Sexual Conditions Stroke Weight Control Women's Conditions Health Topics Symptoms Medical Tests Medications ... For a Complete Report DiGeorge Syndrome Important It is possible that the main title of the report DiGeorge Syndrome 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. Synonyms Congenital Absence of the Thymus and Parathyroids DGS Harrington Syndrome Pharyngeal Pouch Syndrome Third and Fourth Pharyngeal Pouch Syndrome Thymic Agenesis Thymic Aplasia, DiGeorge Type

70. NEJM -- Transplantation Of Thymus Tissue In Complete DiGeorge Syndrome Original Article from The New England Journal of Medicine Transplantation of Thymus Tissue in Complete digeorge syndrome. http://content.nejm.org/cgi/content/short/341/16/1180

HOME SEARCH CURRENT ISSUE PAST ISSUES ... HELP Please sign in for full text and personal services Previous Volume 341:1180-1189 October 14, 1999 Number 16 Next Transplantation of Thymus Tissue in Complete DiGeorge Syndrome M. Louise Markert, M.D., Ph.D., Andreas Boeck, M.D., Laura P. Hale, M.D., Ph.D., Amy L. Kloster, B.S., Tanya M. McLaughlin, B.A., Milena N. Batchvarova, M.S., Daniel C. Douek, Ph.D., Richard A. Koup, M.D., Donna D. Kostyu, Ph.D., Frances E. Ward, Ph.D., Henry E. Rice, M.D., Samuel M. Mahaffey, M.D., Sherrie E. Schiff, Rebecca H. Buckley, and Barton F. Haynes Full Text PDF Editorial by Weissman, I. L. ... PubMed Citation ABSTRACT Background The DiGeorge syndrome is a congenital disorder that affects the heart, parathyroid glands, and thymus. In complete DiGeorge syndrome, patients have severely reduced T-cell function. Methods We treated five infants (age, one to four months) with complete DiGeorge syndrome by transplantation of cultured postnatal thymus tissue. Follow-up evaluations included immune phenotyping and proliferative studies of peripheral-blood mononuclear cells plus biopsy of the thymus allograft. Thymic production of new

71. BabyCenter | Community: BBS - Chromosome Disorders | DiGeorge Syndrome He has a lot of the facial features characteristic of digeorge syndrome. Does anyone out there know anything about this I don t know what to do for her. http://bbs.babycenter.com/board/baby/babyills/babyconditions/1378212/thread/2077

var ACM, oPopup, oDefPopup, offsetTop=10, offsetLeft=10; You seem to have disabled JavaScript. To take full advantage of our site and functionality, we recommend you enable Javascript. How? document.write(''); Preconception Pregnancy Baby Toddler ... Chromosome disorders "DiGeorge Syndrome" Posts: Last Post: Jul 21, 2005, 9:43 AM (PDT) JOIN IN: See all Boards Create a new thread Add a message WATCHES: My watches Start watching this thread HOW TO: Getting started Community Guidelines Help victims of Hurricane Katrina Wish you could do something? Click here to donate to the American Red Cross. Back to Chromosome disorders Messages First Last Author: May 4, 2005 , 5:58 AM (PDT) Hi Everyone, My friend just had a baby boy at 34 weeks on Friday, who has Tetrology of Fallot and which they found out about at 18 weeks. Just yesterday a geneticist came to talk to them to say that she believes he also has DiGeorge Syndrome, although she had an amnio and it came back clear, so I don't understand how he could have this syndrome. He has a lot of the facial features characteristic of DiGeorge Syndrome. Does anyone out there know anything about this I don't know what to do for her. THis is her second baby, and her first died before birth due to severe heart and other issues. He is alive and in NICU and doing well, so we are all so happy for that, but now this new issue has come up. Thanks in advance if any of you know anything about this.

72. Meet Other People With Digeorge Syndrome In Your Area! - Meetup.com Have a product or service for People With digeorge syndrome? Your message here Other Meetup Topics Popular with People With digeorge syndrome http://digeorge.meetup.com/

@import url("http://www.meetup.com/templates/default_v2/site.css"); @import url( http://www.meetup.com/templates/default_v2/images.css ); Home Sign In Register Help ... Find a Meetup Group To organize a local Hurricane Support Meetup for free, email us All Digeorge Syndrome Meetup Groups 1 Groups around the world 16 members 5 who are waiting United Digeorge Syndrome Meetup Day: Third Monday Welcome ... Meetup Group! United Digeorge Syndrome Meetup Day What's this? Add to your site google_color_bg = 'eef6fe'; google_color_border = 'D6E3F6'; google_color_line = 'bdd0ee'; google_alternate_color = 'eef6fe'; google_hints = "Digeorge Syndrome"; Country United States of America Canada Great Britain Australia Afghanistan Albania Algeria American Samoa Andorra Angola Anguilla Antarctica Argentina Armenia Aruba Australia Austria Azerbaijan Bahamas Bahrain Bangladesh Barbados Belarus Belgium Belize Benin Bermuda Bhutan Bolivia Bosnia-Herzegovina Botswana Brazil Brunei Bulgaria Burkina Faso Burundi Cambodia Cameroon Canada Cape Verde Cayman Islands Central Africa Chad Chile China Colombia Comoros Congo Congo (Dem. Rep.)

73. The Tuscaloosa DiGeorge Syndrome Meetup Group - Meetup.com All digeorge syndrome Meetup Group with 15 People With digeorge syndrome in 1 city! Have a product or service for People With digeorge syndrome? http://digeorge.meetup.com/1/

@import url("http://www.meetup.com/templates/default_v2/site.css"); @import url( http://www.meetup.com/templates/default_v2/images.css ); Home Sign In Register Help ... Find a Meetup Group To organize a local Hurricane Support Meetup for free, email us See all Digeorge Syndrome Meetup Group Know any People With Digeorge Syndrome? Tell them about Meetup! The Tuscaloosa DiGeorge syndrome Meetup Group Digeorge Syndrome Meetup Group No. 1 Tuscaloosa, AL 10 Members Fee Info (No ratings yet) Next Meetup: Mon Sep 19 19:00:00 EDT 2005 Welcome About Events ... Invite Friends google_color_bg = 'fbf8ed'; google_color_border = 'ede6d4'; google_color_line = 'e0d4bb'; google_alternate_color = 'fbf8ed'; google_hints = "Digeorge Syndrome"; Welcome! Take any topic – being a mom, practicing French, caring for pugs – if it's something you're interested in, there's a good chance there are others nearby who are interested, too. That's what Meetup is all about– finding the others and getting together – in-person, face-to-face.

74. Allergy & Asthma : What Is DiGeorge Syndrome? - New Hanover Allergy Asthma What is digeorge syndrome? New Hanover Health Network of Wilmington, North Carolina serving Pender, New Hanover, Duplin, Onslow, http://www.nhhn.org/13041.cfm

Home Health Information Health Topics A to Z Health Topics A to Z The Thymus and Parathyroid Glands The thymus gland is located behind the breastbone and is responsible for the maturation of T-cells to fight infections. The four parathyroid glands are located adjacent to the thyroid gland in the neck and regulate calcium in the blood through the production of parathyroid hormone. What is DiGeorge syndrome? The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries: In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following: hypoparathyroidism (underactive parathyroid gland), which results in hypocalcemia (low blood calcium levels) hypoplastic (underdeveloped) thymus or absent thymus, which results in problems in the immune system conotruncal heart defects (i.e., tetralogy of Fallot, interrupted aortic arch, ventricular septal defects, vascular rings) cleft lip and/or palate The name of DiGeorge syndrome was applied to this group of features.

75. Hill Health Topics A-Z - DiGeorge Syndrome digeorge syndrome. National Organization for Rare Disorders. Important It is possible that the main title of the report digeorge syndrome is not the name http://www.healthwise.net/hillhealth/Content/StdDocument.aspx?DOCHWID=nord74&SEC

76. The Scientist :: Gene For DiGeorge Syndrome, Feb. 27, 2001 Tbx1 haploinsufficiency in the digeorge syndrome region causes aortic arch Jerome LA, Papaioannou VE digeorge syndrome phenotype in mice mutant for the http://www.the-scientist.com/news/20010227/02

Please login or register DAILY E-MAIL RSS HANDHELD CURRENT ISSUE DAILY NEWS UPFRONT FEATURE ... ARCHIVES Feb. 27, 2001 Previous Archive Next DAILY NEWS Gene for DiGeorge syndrome By Jonathan Weitzman DiGeorge syndrome (DGS; also known as Velo-cardio-facial syndrome ) is associated with hemizygous deletion of a region of human chromosome 22q11 , causing a range of abnormalities including cardiovascular defects, hypoplasia of the thymus and parathyroid gland, and craniofacial abnormalities. Three research groups have identified the gene, a member of the T-box family of transcription factors, as a key determinant of the DGS phenotype. Merscher et al Cell :619-629) and Lindsay et al Nature :97-101) used chromosomal engineering induced using the Cre recombinase and artificial chromosome transgenesis to localize the haplosufficiency region on the mouse chromosome, chromosome 16, that corresponds to the human disease region. This region contains the gene, expression of which in the pharyngeal arches makes it a strong candidate gene for DGS. Both groups, together with Jerome and Papaioannou ( Nature Genetics 286-291), show that

77. DGCR6 DiGeorge Syndrome Critical Region Protein 6 DiGeorge Syndrome Critical Reg DGCR6 digeorge syndrome critical region protein 6 digeorge syndrome critical region 6 Antibody Search. http://www.biocompare.com/matrixsc/3194/2/6/6926/DGCR6 (DiGeorge syndrome critic

Log In Register Advanced Search Products ... Antibodies Antibody Browse DGCR6 DiGeorge syndrome critical region protein 6 DiGeorge syndrome critical region 6 Antibody Search Your search for "DGCR6 DiGeorge syndrome critical region protein 6 DiGeorge syndrome critical region 6" antibody returned 1 antibodies. You may broaden your search for "DGCR6 DiGeorge syndrome critical region protein 6 DiGeorge syndrome critical region 6" by refining your antibody search criteria in the Antibody Search box below. Antibodies Select products to compare or request more information. Product / Company Specifications Price Chicken Anti-DGCR6 (DiGeorge syndrome critical region protein 6; DiGeorge syndrome critical region 6) Polyclonal Antibody, Unconjugated GenWay Biotech, Inc. Quantity : 100 ug Reactivity : Human Conjugate : Unconjugated NOTE: Biocompare disclaims any information on this site. Price information is approximate list price and actual prices may vary. DGCR6 DiGeorge syndrome critical region protein 6 DiGeorge syndrome critical region 6 Antibody Search Antibody Search Search: Antigen Keywords clear all search parameters Reactivity Species with which the antibody reacts Any E. coli

78. Library Pages For X, Y, Rings, Syndromes, Misc. digeorge syndrome Fragile X Genomic Hybridization Intrachromosomal triplications Klinefelters Syndrome XXY digeorge syndrome OMIM Entry 2000. http://www.chromodisorder.org/sytrix/card_list.php3?dbid=82&id=229

79. DiGeorge Syndrome digeorge syndrome is a rare immunodeficiency disorder characterized by various congenital abnormalities that develop because of defects that occur during http://www.bchealthguide.org/kbase/nord/nord74.htm

var hwPrint=1;var hwDocHWID="nord74";var hwDocTitle="DiGeorge Syndrome";var hwRank="1";var hwSectionHWID="nord74-Header";var hwSource="en-caQ2_05";var hwDocType="Nord"; National Organization for Rare Disorders, Inc. DiGeorge Syndrome Important It is possible that the main title of the report DiGeorge Syndrome 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. Synonyms Congenital Absence of the Thymus and Parathyroids DGS Harrington Syndrome Pharyngeal Pouch Syndrome Third and Fourth Pharyngeal Pouch Syndrome Thymic Agenesis Thymic Aplasia, DiGeorge Type Thymic Hypoplasia, DiGeorge Type Thymus, Congenital, Aplasia Chromosome 22q11 Deletion Syndrome Disorder Subdivisions None General Discussion DiGeorge syndrome is a rare immunodeficiency disorder characterized by various congenital abnormalities that develop because of defects that occur during early fetal development. These defects occur in areas known as the 3rd and 4th pharyngeal pouches, which later develop into the thymus and parathyroid glands. Developmental abnormalities may also occur in the 4th branchial arch. Normally the thymus gland is located below the thyroid gland in the neck and front of the chest and is the primary gland of the lymphatic system, which is necessary for the normal functioning of the immune system. The parathyroid glands, located on the sides of the thyroid gland, are responsible for the maintenance of normal levels of calcium in the blood. The thymus and parathyroid glands are missing or underdeveloped in children with DiGeorge syndrome. The symptoms of this disorder vary greatly, depending upon the extent of the missing thymus and parathyroid tissue. The primary problem caused by DiGeorge syndrome is the repeated occurrence of various infections due to a diminished immune system.

80. Short Description Of Cell Lines. Pathology: DiGeorge Syndrome *188400 Version 4.200205. Short description of cell lines. Pathology digeorge syndrome *188400 OMIM record. By selecting the cell line name, you will receive the http://www.biotech.ist.unige.it/cldb/pat380.html

Version Short description of cell lines. Pathology: DiGeorge syndrome OMIM record By selecting the cell line name , you will receive the detailed description of the cell line By selecting one of the terms between parentheses, you will receive the list of all relevant cell lines You can search any term of the list by using the 'Find' utility of your browser human, Caucasian skin, fibroblast GEIMM By Beatrice...

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