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Digeorge Syndrome:     more detail

DiGeorge Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-09-20 Gale Encyclopedia of Medicine: DiGeorge syndrome by Rebecca J. Frey PhD, 2002-01-01 Live vaccines appear safe in DiGeorge syndrome patients. (Varicella, MMR Vaccine).: An article from: Pediatric News by Timothy F. Kirn, 2003-03-01 DiGeorge syndrome: An entry from Thomson Gale's <i>Gale Encyclopedia of Children's Health: Infancy through Adolescence</i> by Judith, MS Sims, Rebecca, PhD Frey, 2006

lists with details

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
   
   Extractions: 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
   
   Extractions: 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

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

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
   
   Extractions: 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

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
   
   Extractions: 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

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
    
    Extractions: 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". 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

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
    
    Extractions: 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

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
    
    Extractions: 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
    
    Extractions: 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
    
    Extractions: 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 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

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
    
    Extractions: (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 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

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

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
    
    Extractions: 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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