1. DiGeorge Syndrome collection of generelated information OMIM catalog of human genes and disorders Information 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 digeorge syndrome information and inks to national and international support groups, clinics with genetic counselors and geneticists digeorge syndrome. 22q11 deletion syndrome. 22q11 Deletion, GeneClinics. digeorge syndrome, Jeffrey Modell Foundation. digeorge syndrome, NIH, NCBI. DiGeorge Anomaly 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 / Family Village Library Where to Go to Chat with Others. Learn More About It. Web Sites. Search Google for "digeorge syndrome" Where to Go to Chat with Others. DiGeorge_Syndrome DiGeorge_Syndrome. This is an 'International Rare Disease Support Network' eGroup open friends, sharing information and providing support for persons affected by 'digeorge syndrome 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 Google for "DiGeorge Syndrome" Where to Go to Chat with Others This is an 'International Rare Disease Support Network' eGroup open to anyone interested in making friends, sharing information and providing support for persons affected by 'DiGeorge Syndrome.' VCFS/DiGeorgeSyndrome and YOU This is a site for families dealing with adults and adolescence living with VCFS/DiGeorge We are also here to support those with little ones too. Learn More About It DiGeorge Anomaly From PEDBASE DiGeorge Syndrome From the Jeffrey Modell Foundation DiGeorge Syndrome From Online Mendelian Inheritance in Man (OMIM) What is DiGeorge syndrome? DiGeorge Syndrome Region Cloned From Human Genome News Web Sites Back to [ C - D Family Village Home Library Coffee Shop ... Information Last Updated 1/5/2004 by familyvillage@waisman.wisc.edu Document Source: http://www.familyvillage.wisc.edu/lib_dig.htm

5. EMedicine - DiGeorge Syndrome : Article By Sridhar Guduri, MD digeorge syndrome Conditions associated with digeorge syndrome are 22q11 deletion syndromes, velocardiofacial syndrome (VCFS or Shprintzen syndrome), conotruncal anomaly face syndrome, Caylor http://www.emedicine.com/med/topic567.htm

(advertisement) Home Specialties Resource Centers CME ... Patient Education Articles Images CME Patient Education Advanced Search Consumer Health 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

6. EMedicine - DiGeorge Syndrome : Article By Suguru Imaeda, MD digeorge syndrome DiGeorge anomaly is one of a group of disorders that share a chromosome deletion resulting in monosomy 22q11. digeorge syndrome. http://www.emedicine.com/derm/topic716.htm

(advertisement) Home Specialties CME PDA ... Patient Education Articles Images CME Patient Education Advanced Search Link to this site Back to: eMedicine Specialties Dermatology Pediatric Diseases DiGeorge Syndrome Last Updated: June 11, 2002 Rate this Article Email to a Colleague Synonyms and related keywords: congenital thymic aplasia, third and fourth branchial pouch syndrome, CATCH-22 syndrome, DiGeorge anomaly and velocardiofacial syndrome, conotruncal anomaly face syndrome, monosomy 22q11, severe combined immunodeficiency, severe combined immune deficiency, SCID AUTHOR INFORMATION Section 1 of 9 Author Information Introduction Clinical Differentials ... Bibliography Author: Suguru Imaeda, MD , Chief of Health Services Dermatology, Clinical Associate Professor, Department of Dermatology, Yale University School of Medicine Suguru Imaeda, MD, is a member of the following medical societies: American Academy of Dermatology American Medical Association Connecticut State Medical Society Sigma Xi , and Society for Investigative Dermatology Editor(s): Mark A Crowe, MD

7. NORD - National Organization For Rare Disorders, Inc. General Discussion. digeorge syndrome is a rare immunodeficiency disorder characterized by various missing or underdeveloped in children with digeorge syndrome. The symptoms of this http://www.rarediseases.org/search/rdbdetail_abstract.html?disname=DiGeorge Synd

8. DiGeorge Syndrome | AHealthyMe.com Personalize AHealthyMe! Sign up for our Newsletter! digeorge syndrome. Rebecca J. Frey PhD. Definition digeorge syndrome (also called congenital thymic hypoplasia, or third and fourth pharyngeal http://www.ahealthyme.com/article/gale/100084461

Search AHealthyMe! Personalize AHealthyMe! Sign up for our Newsletter! DiGeorge syndrome Rebecca J. Frey PhD Definition DiGeorge syndrome (also called congenital thymic hypoplasia, or third and fourth pharyngeal pouch syndrome) is a birth defect that is caused by an abnormal chromosome and affects the baby's immune system. The syndrome is marked by absence or underdevelopment of the thymus and parathyroid glands. It is named for the pediatrician who first described it in 1965. Description The prevalence of DiGeorge syndrome, is debated; the estimates range from 1:4000 to 1:6395. Because the symptoms caused by the chromosomal abnormality vary somewhat from patient to patient, the syndrome probably occurs much more often than was previously thought. DiGeorge syndrome is sometimes described as one of the "CATCH 22" disorders, so named because of their characteristics-cardiac defects, abnormal facial features, thymus underdevelopment, cleft palate, and hypocalcemia-caused by a deletion of several genes in chromosome 22. The specific facial features associated with DiGeorge syndrome include low-set ears, wide-set eyes, a small jaw, and a short groove in the upper lip. The male/female ratio is 1:1. The syndrome appears to be equally common in all racial and ethnic groups. Causes and symptoms DiGeorge syndrome is caused either by inheritance of a defective chromosome 22 or by a new defect in chromosome 22 in the fetus. The type of defect that is involved is called deletion. A deletion occurs when the genetic material in the chromosomes does not recombine properly during the formation of sperm or egg cells. The deletion means that several genes from chromosome 22 are missing in DiGeorge syndrome patients. According to a 1999 study, 6% of children with DiGeorge syndrome inherited the deletion from a parent, while 94% had a new deletion. Other conditions that are associated with DiGeorge syndrome are diabetes (a condition where the pancreas no longer produces enough insulin) in the mother and fetal alcohol syndrome (a pattern of birth defects, and learning and behavioral problems affecting individuals whose mothers consumed alcohol during pregnancy).

9. OMIM - DIGEORGE SYNDROME; DGS http://www.ncbi.nlm.nih.gov/entrez/dispomim.cgi?id=188400

10. Redirect http://www.ncbi.nlm.nih.gov/htbin-post/Omim/dispmim?188400

11. 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

REGISTRATION IS NOW OPEN FOR THE World Congress on Chromosome Abnormalities C22C is a proud co-host! June 27 – June 30, 2004. REGISTER BEFORE JUNE 6th! (Click here for website, for details) San Antonio, TX PLAN TO JOIN US! Read about Dr. Cody, in Time Magazine EMAIL Stephanie if you have questions, a815@c22c.org 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! Head Office: Stephanie St-Pierre 237 Kent Avenue, Timmins ON CANADA P4N 3C2 TEL: FAX: (705) 267-3374 EMAIL: c22c@hotmail.com US Office: Murney Rinholm 7108 Partinwood Drive Fuquay-Varina, NC 27526 USA tel (919) 567-8167 EMAIL: bgr@nc.rr.com Spanish/Espanol Laura Munoz Robinson Crusoe 1209, Las Condes - Santiago, Chile tel: 02-3251262 EMAIL: lauramuno@hotmail.com Contact a family in your area JOIN C22C Click to subscribe to c22c email discussion list Family Stories On-line Submit your own story here CHAT ROOM MESSAGE BOARDS ... Can you help us with a donation?

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

What is DiGeorge syndrome? DiGeorge syndrome identified as a chromosomal microdeletion. This syndrome is typified by conotruncal congenital heart disease, facial abnormalities and endocrine and immune disorders. 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.

13. VCFS, DiGeorge Syndrome, Etc 22q11 DELETION SYNDROME VELOCARDIO-FACIAL SYNDROME, SHPRINTZEN SYNDROME,digeorge syndrome,CATCH22, CONOTRUNCAL FACE ANOMALY (Cayler-Cardio-Facial Syndrome http://www.nt.net/~a815/vcfs.htm

22q11 DELETION SYNDROME VELO-CARDIO-FACIAL SYNDROME, SHPRINTZEN SYNDROME,DiGEORGE SYNDROME,CATCH22, CONOTRUNCAL FACE ANOMALY (Cayler-Cardio-Facial Syndrome, CHARGE Association, OPITZ G/BBB) Studies for 22q11 deletion are ongoing at these centers, and further studies are listed here Children's Hospital of Philadelphia Clinical Genetics 34 th and Civic Center Blvd. Philadelphia, PA 19104 Tel: (215) 590-2920 The VCFS Educational Foundation Dr. Robert J. Shprintzen Jacobsen Hall, 707 SUNY Health Science Center at Syracuse 750 East Adams Street Syracuse, NY 13210 Tel: (315) 464-6590 fax (315) 464-5321 Albert Einstein College of Medicine Dept of Molecular Genetics 1300 Morris Park Avenue Bronx, NY 10461 tel: 718-430-4274 The Rockefeller University 1230 York Avenue Box 45 New York NY 10131-3100 tel:1-888-920-9100 toll free YAHOO FAMILY SUPPORT GROUP UK/EUROPE SUPPORT GROUP SUPPORT FOR ADULTS AND TEENS LIST OF 22q11 REFERENCE ARTICLES ... Become a member of C22C Please note that this page was created by a Mom, not a genetics expert and the absolute best places to find info on this disorder are the centers linked above, or in the links below. This site is merely for basic background, where parents can meet and share their stories, and find links to other excellent sources of info. If you see any discrepancies in anything I have written, PLEASE write and correct me, or if you think something should be added, links or info, feel free to contact me at a815@c22c.org

14. DiGeorge Syndrome a CHORUS notecard document about digeorge syndrome Disclaimer. Feedback. Search. digeorge syndrome. absent thymus + parathyroids Related documents BeckwithWiedemann syndrome. cleidocranial 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 26 May 2004 Medical College of Wisconsin

15. DiGeorge Syndrome digeorge syndrome is a disorder described in the 1960?s by Dr. Angelo DiGeorge. He observed the digeorge syndrome. 22q11 Deletion Disorders http://www.americanheart.org/presenter.jhtml?identifier=3018193

16. DiGeorge's Syndrome digeorge syndrome. Disease type Genetic Disorder Chromosome 22 Pathology. The protein that this gene codes for causes problems http://www.diseasedir.org.uk/genetic/gene2201.htm

DiGeorge Syndrome Disease type: Genetic Disorder Chromosome : Pathology The protein that this gene codes for causes problems during development (it is unknown if it is expressed in adults), resulting in failed development of the thymus and parathyroid gland. Loss of the parathyroid results in cardiac abnormalities. Aetiology Loss of the Thymus gland causes a lack of cell-mediated immunity. Cell-mediated immunity combats virally infected cells, and is performed by the family of T cells . T cells are produced in the bone marrow as prothymocytes , and migrate to the Thymus where they are trained to recognise self-MHC (Histocompatability Antigens), and to become self-restricted, so that they do not react to self Antigen. The subsequent T cells will then kill cells that display non-self Antigen, such as virally infected cells, and cancerous cells. If this maturation process is not present, as in the case of DiGeorge syndrome, then the prothymocytes are not activated and will die naturally by cell death. This results in an individual with no T cells, and as such will not be able to mount immune attacks on cancerous or virally infected cells.

17. DiGeorge, Syndrome : Sites Et Documents Francophones DiGeorge, syndrome digeorge syndrome http://www.chu-rouen.fr/ssf/pathol/digeorgesyndrome.html

DiGeorge, syndrome Menu général CISMeF Définition [MeSH Scope Note ; traduction CISMeF] : Syndrome congénital lié à l'absence du thymus et des parathyroïdes causant l'affaiblissement de l'immunité cellulaire. Les niveaux d'immunoglobulines sont normaux. 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 : Qualificatifs : diagnostic 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 ; ; pays : France ; langue : français ; format : html ; accès : gratuit ; non parrainé ; daté de : 2002 ; visité le : 26/05/2003].

18. National Primary Immunodeficiency ResourceCenter digeorge syndrome. Incidence. The occurrence of digeorge syndrome is sporadic. However, a few cases of familial digeorge syndrome have been reported. http://npi.jmfworld.org/patienttopatient/index.cfm?section=patienttopatient&cont

19. DiGeorge Syndrome digeorge syndrome. Congenital immune deficiency disorder. In digeorge syndrome, something happens during one of every 4,000 babies’ development in the womb. http://rarediseases.about.com/cs/digeorgesyndrome/a/080903.htm

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Rare Diseases C - D Rare Diseases: D ... 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); Stay Current 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 Email to a friend Print this page Stay Current Subscribe to the About Rare / Orphan Diseases newsletter. Suggested Reading Internet links on DiGeorge syndrome Elsewhere on the Web Primary Immune Deficiency Foundation Most Popular ALD and Lorenzo's Oil The Elephant Man's Bones Reveal Mystery Prune Belly (Eagle-Barrett) Syndrome Progeria Syndromes ... Mad Cow Disease and Humans What's Hot Autoimmune Kidney Disease Tourette Syndrome Christmas Disease Bugs, PANDAS, and Tics ... Dystonia and Botox Injections DiGeorge Syndrome From Mary Kugler Your Guide to Rare / Orphan Diseases Sign up for my Newsletter Congenital immune deficiency disorder Ranges from mild to severe Diagnosis Treatment Thymus transplant Information for this article was taken from: The DiGeorge Syndrome RATE THIS ARTICLE Would you recommend this article?

20. DiGeorge Syndrome Search. Rare / Orphan Diseases, digeorge syndrome Guide picks. digeorge syndrome Article describes digeorge syndrome, its symptoms, and treatment. http://rarediseases.about.com/cs/digeorgesyndrome/

zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') About Rare / Orphan Diseases Home Essentials ... 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); Stay Current 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 DiGeorge Syndrome Guide picks An immunodeficiency disorder characterized by congenital abnormalities including missing or underdeveloped thymus and parathyroid glands. DiGeorge Syndrome Article describes DiGeorge syndrome, its symptoms, and treatment. From the About.com Guide to Rare/Orphan Diseases. Immune Deficiency Foundation: DiGeorge Syndrome Site also offers support, research news, newsletter, and resources. Health AtoZ: DiGeorge Syndrome Information about the syndrome. NCBI: DiGeorge Syndrome National Center for Biotechnology Information site describes the genetic basis of DiGeorge syndrome. Topic Index email to a friend back to top Our Story ... User Agreement

A  B  C  D  E  F  G  H  I  J  K  L  M  N  O  P  Q  R  S  T  U  V  W  X  Y  Z

Page 1     1-20 of 98    1  | 2  | 3  | 4  | 5  | Next 20