1. DiGeorge Syndrome An article about digeorge syndrome with a description, causes, research and treatment.Category Health Conditions and Diseases digeorge syndrome...... collection of generelated information OMIM catalog of human genes and disordersInformation Information and support for digeorge syndrome GeneClinics a http://www.ncbi.nlm.nih.gov/disease/DGS.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View DGS region on chromosome 22 Databases PubMed the literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information Information and support for DiGeorge syndrome GeneClinics a medical genetics resource DIGEORGE SYNDROME is a rare congenital (i.e. present at birth) disease whose symptoms vary greatly between individuals, but commonly include a history of recurrent infection, heart defects and characteristic facial features. DiGeorge syndrome is caused by a large deletion from chromosome 22, produced by an error in recombination at meiosis (the process that creates germ cells and ensures genetic variation in the offspring). This deletion means that several genes from this region are not present in DiGeorge syndrome patients. It appears that the variation in the symptoms of the disease is related to the amount of genetic material lost in the chromosomal deletion. Although researchers now know that the DGS gene is required for the normal development of the thymus and related glands, counteracting the loss of DGS is difficult. Some effects, for example, the cardiac problems and some of the speech impairments, can be treated either surgically or therapeutically, but the loss of immune-system T-cells (produced by the thymus) is more challenging, and requires further research on recombination and immune function.

2. DiGeorge Syndrome (DGS) digeorge syndrome, the synonyms, a summary and list of major features. http://www.nlm.nih.gov/mesh/jablonski/syndromes/syndrome268.html

Multiple Congenital Anomaly/Mental Retardation (MCA/MR) Syndromes View the Full Record Syndrome DiGeorge syndrome (DGS) Synonyms DiGeorge anomaly DiGeorge sequence familial third and fourth pharyngeal pouch syndrome pharyngeal pouch syndrome third and fourth pharyngeal pouch syndrome thymic aplasia syndrome thymic and parathyroid agenesis syndrome Summary A developmental defect of derivatives of the third and fourth pharyngeal pouches, almost always associated with agenesis or hypoplasia of the thymus and parathyroid gland, characteristic facies with downslanting palpebral fissures and ocular and nasal anomalies, hypocalcemia, cardiovascular anomalies, immunodeficiency, and other variable abnormalities. Patients who survive infancy are usually mentally retarded. DiGeorge syndrome is considered by some researchers as a developmental field defect consisting of several casually distinct disorders, rather than a distinct syndromic entity. Conditions associated with the development of DiGeorge syndrome include diabetic embryopathy, fetal alcohol syndrome, and Zellweger syndrome. Major features of this syndrome have been designated by the Newcastle Upon Tyne Group CATCH 22 (Cardiac, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcemia), the number 22 indicating deletion of the long arm of chromosome 22 (22q11). Major Features Head and neck: Micrognathia.

3. DiGeorge Syndrome Arborescence(s) du thesaurus MeSH contenant le motclé DiGeorge, syndrome digeorge syndrome http://www.kumc.edu/gec/support/digeorge.html

DiGeorge syndrome 22q11 deletion syndrome 22q11 Deletion , GeneClinics DiGeorge Syndrome , Jeffrey Modell Foundation DiGeorge Syndrome , NIH, NCBI DiGeorge Anomaly , PEDBASE DiGeorge Syndrome , National Institutes of Health, National Library of Medicine DiGeorge Syndrome , Online Mendelian Inheritance in Man (OMIM) Faces of Sunshine 22q and You Center , Book, $10.00 US checks or money orders to "Clinical Genetics, Education Fund #27087-275760000 ( not purchase orders or credit card payment), c/o Melissa Tonnesen, MS, The Children’s Hospital of Philadelphia, The 22q and You Center, Main Building, Room 2150, 34th Street and Civic Center Blvd., Philadelphia, PA 19104, e-mail: tonnesen@email.chop.edu History of the 22q11.2 Deletion , DM McDonald-McGinn and EH Zackai Medical needs of children with the 22q11.2 deletion , 22q and You, Children's Hospital of Philadelphia International resouces The 22q11 Group DiGeorge syndrome sites francophones Generation 22 Also See: National organizations information on genetic conditions or birth defects Information for Siblings and Family Members CHARGE association Chromosome 22 Velo-cardio-facial syndrome ... Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation, Inc.

4. DiGeorge Syndrome digeorge syndrome. See also VeloCardio-Facial Syndrome and Craniofacial Disorders http://www.familyvillage.wisc.edu/lib_dig.htm

DiGeorge Syndrome See also: Velo-Cardio-Facial Syndrome and Craniofacial Disorders Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "DiGeorge Syndrome" Where to Go to Chat with Others Velo-Cardio-Facial Syndrome and DiGeorge Syndrome On-line discussion forum. Learn More About It DiGeorge Anomaly From PEDBASE DiGeorge Syndrome From Education Environments DiGeorge Syndrome From the Jeffrey Modell Foundation DiGeorge Syndrome From Online Mendelian Inheritance in Man (OMIM) DiGeorge Syndrome: An Experimental Drug From the National Organization for Rare Disorders, Inc. (NORD) DiGeorge Syndrome Region Cloned From Human Genome News Regulation of Gene Expression and Development From the Laboratory of Muriel Aubry at the Clinical Research Institute of Montreal RÉGULATION DE L'EXPRESSION DES GÈNES ET DÉVELOPPEMENT De le laboratoire de Muriel Aubry Institut de recherches cliniques de Montréal (IRCM) Researchers Release Map of Gene-Rich Chromosome 22 From the National Human Genome Research Institute (NHGRI) Web Sites Paula's Cool Medical Links Back to [ C - D Family Village Home Library Coffee Shop ... Information Last Updated March 2, 1999 by

5. JMFWorld.org - DiGeorge Syndrome Details the incidence, signs, symptoms, diagnosis, and treatments for this disease. http://www.jmfworld.org/html/digeorge_syndrome.html

6. Entrez-PubMed Comment in N Engl J Med. 1999 Oct 14;341(16)12279. Click here to readTransplantation of thymus tissue in complete digeorge syndrome. http://www.ncbi.nlm.nih.gov/entrez/query.fcgi?cmd=Retrieve&db=PubMed&list_uids=1

7. Chromosome 22 Central Support group for families who have children with any chromosome 22 disorder, including trisomies, cat eye syndrome, translocations, deletions 22q11, 22q13, VCFS, digeorge syndrome, rings and unique malformations. http://www.nt.net/~a815/chr22.htm

This page is created by a parent of a special child, not a medical professional. Any information should be discussed with your doctor. It is not designed to replace professional advice! I We do not provide medical advice, only support and information. NEW! T-SHIRTS NOW AVAILABLE! HELP US RAISE FUNDS! CLICK FOR ORDER INFO FLORIDA CONFERENCE 2003 What a success! Click on the gang for pics and a full report! OUR GROUP NEEDS AREA REPS! Do you have a little time to spare to speak with new families in your area? Help them find all the services they need? Contact us for more information! Can you help us with a donation? MOSAIC TRISOMY 22 RING 22 22q13 DELETION ... 11/22 TRANSLOCATION a.k.a. partial trisomy 22, supernumerary der(22) syndrome due to unbalanced translocation of 11 and 22 CAT EYE SYNDROME a.k.a. partial trisomy 22 or tetrasomy 22 or CES) 22q11 DELETION Syndromes) UNIQUE 22 DISORDERS mosaic monosomy 22, rare deletions and trisomies, and translocations between 22 and almost every chromosome) Fill in our on-line REGISTRATION FORM (sign up for our e-mail newsletter and family networking, it's FREE!)

8. OMIM ENTRY 188400 Offers a comprehensive discussion of digeorge syndrome, including molecular genetics, diagnosis, population genetics and clinical features. http://www3.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?188400

9. Velo-Cardio-Facial Syndrome link to Genetics Education Center Support Page VeloCardio-Facial Syndrome (22q deletion,chromosome 22q11.2 deletion, Shprintzen syndrome, digeorge syndrome) http://www.kumc.edu/gec/support/velo.html

Velo-Cardio-Facial Syndrome (22q deletion, chromosome 22q11.2 deletion, Shprintzen syndrome, DiGeorge syndrome) Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation, Inc. (also, spanish List of over 175 findings reported with 22qdel international groups Also See: National organizations with information on genetic conditions or birth defects 22q11 Deletion , GeneClinics DiGeorge Syndrome CHARGE syndrome 22q and you newslette r , Children's Hospital of Philadelphia Faces of Sunshine , 22q and You Center, Book, $10.00 US checks or money orders to "Clinical Genetics, Education Fund #27087-275760000 ( not purchase orders or credit card payment), c/o Melissa Tonnesen, MS, The Children’s Hospital of Philadelphia, The 22q and You Center, Main Building, Room 2150, 34th Street and Civic Center Blvd., Philadelphia, PA 19104, e-mail: tonnesen@email.chop.edu DiGeorge Syndrome , NIH, NCBI DiGeorge Anomaly , PEDBASE DiGeorge Syndrome , National Institutes of Health, National Library of Medicine DiGeorge Syndrome , Online Mendelian Inheritance in Man (OMIM) History of the 22q11.2 Deletion

10. Digeorge, Syndrome : Sites Et Documents Francophones Translate this page Arborescence(s) du thesaurus MeSH contenant le mot-cléDiGeorge, syndrome digeorge syndrome http://www.chu-rouen.fr/ssf/pathol/digeorgesyndrome.html

Digeorge, Syndrome Menu général CISMeF Arborescence(s) DiGeorge, syndrome DiGeorge syndrome maladies et malformations congénitales, héréditaires et néonatales maladies immunologiques Position du mot-clé dans l' (les) arborescence(s) : Vous pouvez consulter toutes les ressources ou seulement les principales ou utiliser l' outil de recherche les recommandations les documents concernant l' enseignement les documents destinés aux patients Ou consulter ci-dessous une sélection des principales ressources : guide ressources Microdélétion 22q11 - synonyme(s) et inclusion(s) : CATCH 22 ; DiGeorge, syndrome de ; vélo-cardio-facial, syndrome [Par Pr Philip N. Site éditeur Orphanet base de données sur les maladies rares et les médicaments orphelins. Direction Générale de la Santé / INSERM ; ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 1998 ; visité le : 15/01/2001]. mots clés : * DiGeorge, syndrome DiGeorge, syndrome diagnostic type(s) : guide ressources structure recherche texte association patients patient connect 22. ch

11. Science News: Thymus Tissue Heals DiGeorge Syndrome.(Brief Article) a CHORUS notecard document about digeorge syndrome Disclaimer. Feedback. Search. digeorge syndrome. absent thymus + parathyroids http://www.findarticles.com/cf_dls/m1200/21_156/58225086/p1/article.jhtml

Find Articles Home View By Subject View By Name Search Tips ... Help Search all magazines this magazine Arts/Entertain. Automotive Business/Fin. Comp./Tech. Health/Fitness Home/Family News/Society Reference/Ed. Sports for Search Tips : Use quotes to find a specific phrase, e.g. "Abe Lincoln" or "New York". Use the + sign for words that MUST be in the article, e.g. +Ford +SUV Terms related to this article: Thymus Therapeutic use Transplantation of organs tissues etc Research Immunological deficiency syndromes Care and treatment Buy and sell " " and millions of other items at eBay Science News Search this Magazine Go to Web site Print this article Email this article Page: Thymus tissue heals DiGeorge syndrome.(Brief Article) Author/s: N.S. Issue: Nov 20, 1999 The rare baby born without a thymus gland can't defend itself. In the thymus, which sits atop the heart, the body's T cells learn the most important lessons of immunology: which cells to attack and which to let live. Without a thymus, a baby had no chance to live beyond a few years, until now. Infants missing all or part of a thymus have DiGeorge syndrome. Babies with even a small thymus usually survive.

12. Velo-Cardio-Facial Syndrome (VCFS) And DiGeorge Syndrome VeloCardio-Facial Syndrome (VCFS) and digeorge syndrome On-Line Discussion Groups.Chat Rooms. Velo-Cardio-Facial Syndrome (VCFS) and DiGeorge Chat Room. http://www.familyvillage.wisc.edu/lists/digeorge-vcfs.html

Velo-Cardio-Facial Syndrome (VCFS) and DiGeorge Syndrome On-Line Discussion Groups Chat Rooms Velo-Cardio-Facial Syndrome (VCFS) and DiGeorge Chat Room Mailing Lists Velo-Cardio-Facial Syndrome (VCFS) Digest This is a discussion forum for those interested in Velo-Cardio-Facial Syndrome and DiGeorge Syndrome. To join send an e-mail message to: listserv@maelstrom.stjohns.edu In the body of the message type: Subscribe VCFS Your Name *Available in digest form If you know of an on-line discussion group that should be added to the list, please send a note to Linda Rowley at: rowley@waisman.wisc.edu Last Updated August 24, 1998 by rowley@waisman.wisc.edu Document Source: http://www.familyvillage.wisc.edu/lists/autism.htm

13. What Is DiGeorge Syndrome? digeorge syndrome identified as a chromosomal microdeletion. This disorders.What is digeorge syndrome? What is digeorge syndrome? http://nvnv.essortment.com/digeorgesyndrom_ruuh.htm

What is DiGeorge syndrome? What is DiGeorge Syndrome? DiGeorge syndrome is characterized by a few specific cardiac malformations, a sub-set of facial attributes, and certain endocrine and immune anomalies. bodyOffer(20401) The cause of DiGeorge syndrome has been identified as a submicroscopic deletion of chromosome 22 in the DiGeorge chromosomal region. It is classified along with velo-cardio-facial syndrome (Shprintzen syndrome) and conotruncal anomaly face syndrome as a 22q11 microdeletion and is sometimes referred to by the simple name 22q11 syndrome. People with DiGeorge syndrome may have the following congenital heart lesions: tetralogy of Fallot, interrupted aortic arch type B, truncus arteriosus, aberrant left subclavian artery, right infundibular stenosis, or ventricular septal defect. 74% of patients with 22q11 syndrome have conotruncal malformations. 69% of patients are found to have palatal abnormalities including velopharyngeal incompetence (VPI), submucosal cleft palate, and cleft palate. Some of the facial characteristics of DiGeorge syndrome are bifid uvula, high-arched palate, small mouth and wide set eyes, down-slanting eyes, hooded eyes, long face, malar flatness, cupped low set ears, bulbous nasal tip, and a dimpled or bifurcated nasal tip. Not all people with a 22q11 microdeletion display all, or indeed, any, of these characteristics.

14. DiGeorge Syndrome digeorge syndrome. absent thymus + parathyroids (branchial cleft anomaly).can't diagnose from CXR (stress or infection involution of thymus). http://chorus.rad.mcw.edu/doc/00591.html

CHORUS Collaborative Hypertext of Radiology Multisystem entities Feedback Search DiGeorge syndrome absent thymus + parathyroids (branchial cleft anomaly) can't diagnose from CXR (stress or infection > involution of thymus) Charles E. Kahn, Jr., MD - 2 February 1995 Last updated 14 March 2001 Medical College of Wisconsin

15. DiGeorge Syndrome - Lucile Packard Children's Hospital Cardiovascular Diseases. digeorge syndrome The Thymus and Parathyroid parathyroidhormone. What is digeorge syndrome? The history http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/cardiac/digeorge.html

Arrhythmia Service/Electrocardiography (ECG) Laboratory Cardiac Catheterization / Angiography Cardiology Cardiothoracic Surgery ... Packard-based Physician Named Director of Cardiac Surgery for Children's Hospital Oakland Cardiovascular Diseases DiGeorge Syndrome 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

16. DiGeorge Syndrome - Lucile Packard Children's Hospital Allergy, Asthma, Immunology. digeorge syndrome The Thymus and Parathyroid parathyroidhormone. What is digeorge syndrome? The history http://www.lpch.org/DiseaseHealthInfo/HealthLibrary/allergy/digeorge.html

Allergy, Asthma and Clinical Immunology Day Hospital Eczema / Atopic Dermatitis Pediatrics, General ... Raising Spirited Children DiGeorge Syndrome 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)

17. EMedicine - DiGeorge Syndrome : Article By Sridhar Guduri, MD digeorge syndrome Conditions associated with digeorge syndrome are 22q11 deletionsyndromes, velocardiofacial syndrome (VCFS or Shprintzen syndrome http://www.emedicine.com/med/topic567.htm

document.write(''); (advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Medicine, Ob/Gyn, Psychiatry, and Surgery Allergy And Immunology DiGeorge Syndrome Last Updated: May 28, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: DiGeorge anomaly, DGA, thymic hypoplasia, thymic aplasia, third and fourth pouch syndrome, third and fourth arch syndrome, cellular immunodeficiency, hypoparathyroidism, 22q11 deletion syndromes, velocardiofacial syndrome, VCFS, Shprintzen syndrome, conotruncal anomaly face syndrome, Caylor syndrome, Opitz-GBBB syndrome, CHARGE syndrome, coloboma, heart anomalies, atresia of choanae, retardation, genital hypoplasia, ear anomalies, hypocalcemia, fetal alcohol syndrome, FAS AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Sridhar Guduri, MD , Consulting Staff, Allergy and Asthma Clinics of Ohio Coauthor(s): Iftikhar Hussain, MD

18. EMedicine - DiGeorge Syndrome : Article By Daniel AC Frattarelli, MD, FAAP digeorge syndrome The syndrome that now is understood to be the chromosome 22q11deletion syndrome actually grew out of 3 syndromes described on 2 continents http://www.emedicine.com/ped/topic589.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Pediatrics Allergy And Immunology DiGeorge Syndrome Last Updated: March 27, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: DGS, DiGeorge association, DGA, chromosome 22q11 deletion syndrome, CATCH 22, cardiac anomalies, abnormal facies, thymic hypoplasia, cleft palate, hypocalcemia on chromosome 22, congenital cardiac anomalies, craniofacial dysmorphology, learning dysfunction, velocardiofacial syndrome, VCFS, conotruncal anomalies face syndrome, CTAF syndrome AUTHOR INFORMATION Section 1 of 10 Author Information Introduction Clinical Differentials ... Bibliography Author: Daniel AC Frattarelli, MD, FAAP , Clinical Instructor, Department of Pediatrics, Wayne State University School of Medicine; Fellow, Clinical Pediatric Pharmacology, Division of Pharmacology and Toxicology, Children's Hospital of Michigan Coauthor(s): Erawati Bawle, MD, FAAP, FACMG

19. HONselect - DiGeorge Syndrome Language MeSH term Accepted terms Englishdigeorge syndrome, Syndrome, DiGeorge. http://www.hon.ch/HONselect/RareDiseases/C20.673.340.html

List of rare diseases: English Deutsch Language: MeSH term: Accepted terms: English: DiGeorge Syndrome - Syndrome, DiGeorge Français: DIGEORGE, SYNDROME Deutsch: Di-George-Syndrom Español: SINDROME DE DIGEORGE - DISPLASIA DEL TIMO - APLASIA DEL TIMO - AGENESIA DEL TIMO Português: SINDROME DE DIGEORGE - DISPLASIA DO TIMO - APLASIA DO TIMO - AGENESIA DO TIMO HONselect ressources Definition: Yes Articles: Yes Images: Yes News: No Conferences: No Clinical trials: Yes Web sites: English Yes Français No Deutsch No Español No Português No Home About us Site map Feedback ... HONewsletter http://www.hon.ch/HONselect/RareDiseases/C20.673.340.html Last modified: Thu Jul 25 2002

20. HON - News : New Link To DiGeorge Syndrome Resources from HONselect. New Link to digeorge syndrome Gene that helps formbaby's blood vessels is key player in birth defect disease. THURSDAY, Feb. http://www.hon.ch/News/HSN/511634.html

HON News - 300 medical topics and themes Themes: A B C ... I J K L M N ... P Q R S T U ... W X Y Z Browse archive: Mar Feb Jan Dec ... Sep Other news for: Hereditary Diseases Genetics Resources from HONselect New Link to DiGeorge Syndrome Gene that helps form baby's blood vessels is key player in birth defect disease THURSDAY, Feb. 6 (HealthScoutNews) A gene that helps blood vessels form in developing babies is a key player in a chromosomal abnormality that causes birth defects in the heart and throughout the body. An international study in the February issue of Nature Medicine says that abnormalities in vascular endothelial growth factor (VEGF) are a cause of DiGeorge syndrome. This syndrome can cause a wide range of heart defects. It can also cause mental retardation, problems in the thymus and parathyroid gland, and craniofacial defects. Finding out how and why abnormalities occur in VEGF may help scientists find ways to prevent them. In this study, scientists studied animals, including mice and zebra fish, and DNA samples from people with DiGeorge syndrome. More information Here's where you can learn more about DiGeorge syndrome SOURCE: Medical College of Georgia, news release, Feb. 4, 2003

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