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Digeorge Syndrome:     more detail

Educating Children with Velo-Cardio-Facial Syndrome (Genetics and Communication Disorders Series) by Donna Landsman, 2007-04-15 DiGeorge Syndrome - A Medical Dictionary, Bibliography, and Annotated Research Guide to Internet References by ICON Health Publications, 2004-09-20 Velo-Cardio-Facial Syndrome, Volume I (Genetic Syndromes and Communication Disorders) by Robert J. Shprintzen, Karen J. Golding-Kushner, 2008-07-01 Noninfectious Immunodeficiency-Related Cutaneous Conditions: Digeorge Syndrome, Chronic Granulomatous Disease, Severe Combined Immunodeficiency 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 Gale Encyclopedia of Medicine: DiGeorge syndrome by Rebecca J. Frey PhD, 2002-01-01 DiGeorge Syndrome: An entry from Gale's <i>Gale Encyclopedia of Medicine, 3rd ed.</i> by Rebecca, PhD Frey, 2006

lists with details

41. Molecular Medicine Unit
    Classically, digeorge syndrome patients have congenital heart defects, In terms of relevance to the digeorge syndrome and its related pathologies the  
    http://www.ich.ucl.ac.uk/units/mmu2.htm
    
    Extractions: The unit investigates the clinical and molecular defects in this spectrum of disorders. A range of positional cloning, developmental and functional analyses are undertaken. We are priviledged to work with a large number of groups in the UK and internationally. From: Scambler, P.J. (1994). DiGeorge syndrome and related birth defects. Seminars in Developmental Biology Classically, DiGeorge syndrome patients have congenital heart defects, particularly involving the outflow tract, hypocalcaemia, cell-mediated immune deficiency, learning or behavioural problems, craniofacial dysmorphism and hemizygosity for a region of human chromosome 22q11. This chromosomal abnormality is now known to cause other syndromal defects and apparently isolated congenital heart disease. Although most patients have a large deletion, at least 2Mb, a critical region of 300kbp has been defined. Within this region a putative transcriptional regulator called TUPLE-1 has been identified.

42. DiGeorge Syndrome: Information From Answers.com
    digeorge syndrome digeorge syndrome is also called Microdeletion 22q11 syndrome (del 22q11.2) and Velocardiofacial syndrome (VCF)  
    http://www.answers.com/topic/digeorge-syndrome
    
    Extractions: showHide_TellMeAbout2('false'); Business Entertainment Games Health ... More... On this page: Wikipedia Mentioned In Or search: - The Web - Images - News - Blogs - Shopping DiGeorge syndrome Wikipedia DiGeorge syndrome DiGeorge syndrome is also called Microdeletion 22q11 syndrome (del 22q11.2) and Velocardiofacial syndrome (VCF). Individuals with a 22q11 deletion have a range of findings, including congenital heart disease (74% of individuals), particularly conotruncal malformations ( tetralogy of Fallot , interrupted aortic arch, ventricular septal defect , and truncus arteriosus ); palatal abnormalities (69%), particularly velopharyngeal incompetence (VPI), submucosal cleft palate , and cleft palate; characteristic facial features (present in the majority of Caucasian individuals); and learning difficulties (70-90%). Seventy-seven percent of individuals have an immune deficiency regardless of their clinical presentation. Additional findings include: hypocalcemia (50%), significant feeding problems (30%), renal anomalies (37%), hearing loss (both conductive and sensorineural), laryngotracheoesophageal anomalies, growth hormone deficiency, autoimmune disorders, seizures (without hypocalcemia), and skeletal abnormalities.

43. Clinical Trial: Immunologic Evaluation In Patients With DiGeorge Syndrome Or Vel
    digeorge syndrome Shprintzen syndrome Chromosome Abnormalities Abnormalities, Multiple Conotruncal Cardiac Defects. MedlinePlus related topics Birth  
    http://www.clinicaltrials.gov/ct/show/NCT00005102
    
    Extractions: Verified by National Center for Research Resources (NCRR) December 2003 Sponsors and Collaborators: National Center for Research Resources (NCRR) Children's Hospital of Philadelphia Information provided by: National Center for Research Resources (NCRR) ClinicalTrials.gov Identifier: Purpose OBJECTIVES: I. Determine the pattern of immunologic reconstitution in patients with T-cell compromise due to DiGeorge syndrome or velocardiofacial syndrome. II. Determine any correlation between immunologic function in these patients and chromosome 22 deletion breakpoints. III. Determine presence of sustained immunologic compromise in older patients. Condition DiGeorge Syndrome

44. Clinical Trial: Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study
    Velocardiofacial syndrome, also known as 22q11.2 syndrome or digeorge syndrome, 22q11.2 (DiGeorge MIM 188400, Velocardiofacial MIM 192430) syndrome is a  
    http://www.clinicaltrials.gov/ct/gui/show/NCT00105274
    
    Extractions: Verified by National Institutes of Health Clinical Center (CC) February 18, 2005 Sponsored by: National Institute of Mental Health (NIMH) Information provided by: National Institutes of Health Clinical Center (CC) ClinicalTrials.gov Identifier: Purpose Velocardiofacial syndrome, also known as 22q11.2 syndrome or DiGeorge syndrome, has been associated with many features such as a cleft palate, heart defects, and learning, speech and feeding problems. It is caused by the absence of a number of genes on chromosome 22, but the mechanism by which this inborn abnormality causes the clinical problems is not known. In this study by the National Institute of Mental Health and the Office of Rare Diseases, we are recruiting participants with 22q11.2 syndrome to come for a three-day stay to our main campus in Bethesda, MD, to participate in a study in which we will investigate the genetic makeup of their cells together with several studies of brain function with advanced research imaging. The goal of this study is to understand how the genes missing in 22q11.2 syndrome are related to the increased occurrence of psychiatric problems, such as psychosis, in this syndrome. Participants must be 18-50 years of age, have some high school education and not currently be taking antipsychotic medication. Travel costs to Bethesda for participants and an accompanying person will be paid, and participants are reimbursed for their time in participating in the study. A blood draw is required. All research procedures have been designated as "minimal risk" procedures.

45. Deciphering DiGeorge Syndrome
    A collaboration of European scientists has uncovered new insight into the most common chromosomal microdeletion syndrome in humans.  
    http://www.eurekalert.org/pub_releases/2005-02/cshl-dds022805.php
    
    Extractions: Cold Spring Harbor Laboratory A collaboration of European scientists has uncovered new insight into the most common chromosomal microdeletion syndrome in humans. The research group, headed by Dr. Lukas Sommer at the Swiss Federal Institute of Technology, has identified a heretofore unknown role for the TGF cell-to-cell signaling pathway in the pathogenesis of DiGeorge syndrome. By elucidating the genetic mechanism that drives DiGeorge syndrome, Dr. Sommer and colleagues are helping establish a foundation for the future design of therapies to better identify and treat this disease. "We now show that the growth factor TGF is a key signal for normal neural crest development: genetic inactivation of TGF signaling in mouse neural crest stem cells prevents neural crest cell differentiation and recapitulates all morphological features of DiGeorge syndrome," explains Dr. Sommer. DiGeorge syndrome is a congenital disease that annually affects about 1 in 4000 live births. DiGeorge patients display a broad range of symptoms, which may include cardiac defects, immunodeficiency, craniofacial malformations, learning disabilities, and psychiatric problems. DiGeorge patients are generally missing a small portion of chromosome 22. The genes which would normally reside on this area of the chromosome, but which are deleted in DiGeorge patients, direct embryonic development of the pharyngeal arches, an area of the fetus containing so-called "neural crest cells."

46. DiGeorge Syndrome
    a CHORUS notecard document about digeorge syndrome.  
    http://chorus.rad.mcw.edu/doc/00591.html

47. 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/to-go/00591.html

48. Scientists Gain New Insight Into DiGeorge Syndrome
    ? A collaboration of European scientists has uncovered new insight into the most common chromosomal microdeletion syndrome in humans.  
    http://www.news-medical.net/?id=8047

49. DiGeorge Syndrome
    Article describes digeorge syndrome, its symptoms, and treatment.  
    http://rarediseases.about.com/cs/digeorgesyndrome/
    
    Extractions: zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases Essentials ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); Sign Up Now for the Rare / Orphan Diseases newsletter! New York Times Company Hurricane Katrina About's Hurricane Blogs NY Times Coverage Where to Donate Exclusive: One Family's Story ... How to Explain to Kids Related Topics Multiple Sclerosis Parenting Special Needs Sleep Disorders Headlines Cystic Fibrosis Foundation helps Hurricane Katrina victims Robert J. Beall, Ph.D, President and CEO of the Cystic...

50. DiGeorge Syndrome
    Article describes digeorge syndrome, its symptoms, and treatment.  
    http://rarediseases.about.com/cs/digeorgesyndrome/a/080903.htm
    
    Extractions: var zLb=12; var zIoa1 = new Array('Suggested Reading','Internet links on DiGeorge syndrome','http://rarediseases.about.com/cs/digeorgesyndrome/index.htm'); var zIoa2 = new Array('Elsewhere on the Web','Primary Immune Deficiency Foundation','http://www.primaryimmune.org/pubs/book_pats/e_ch09.pdf'); zJs=10 zJs=11 zJs=12 zJs=13 zc(5,'jsc',zJs,9999999,'') zfs=0;zCMt='a70' About Rare / Orphan Diseases Rare Diseases C - D Rare Diseases: D DiGeorge Syndrome Rare Diseases Essentials Rare Diseases: Basic Information Rare Diseases Support Groups ... Help zau(256,140,140,'el','http://z.about.com/0/ip/417/C.htm','');w(xb+xb+' ');zau(256,140,140,'von','http://z.about.com/0/ip/496/6.htm','');w(xb+xb); Sign Up Now for the Rare / Orphan Diseases newsletter! Suggested Reading Internet links on DiGeorge syndrome Elsewhere on the Web Primary Immune Deficiency Foundation Most Popular Muscular Dystrophy ALD and Lorenzo's Oil Progeria Syndromes Leprosy (Hansen's Disease) ... The Elephant Man What's Hot Muscular Dystrophy Autoimmune Kidney Disease Minamata Disease Charcot-Marie-Tooth Disease ... Meckel-Gruber Syndrome adunitCM(150,100,'x55')

51. Special Child: Disorder Zone Archives - Velocardiofacial Syndrome
    Velocardiofacial syndrome (VCFS), also known as digeorge syndrome, is a disorder characterized by cleft palate, heart abnormalities, learning disabilities,  
    http://www.specialchild.com/archives/dz-029.html
    
    Extractions: Keri Reigle Introduction Velocardiofacial syndrome (VCFS), also known as DiGeorge syndrome, is a disorder characterized by cleft palate, heart abnormalities, learning disabilities, and various other clinical findings. The name velocardiofacial comes from the Latin words "velum" meaning palate, "cardia" meaning heart, and "facies" having to do with the face. The cause of VCFS is unknown, however it is the result of a deletion of the long arm of chromosome 22 (22q11.2 deletion). It is said to be an autosomal dominant disorder, which means that only one parent needs to have the gene to pass it along to their children. When one of the parents has VCFS, the chances of their children having the syndrome is about 50/50 for each birth. Research has shown, however, that VCFS is inherited in only about 10 to 15 percent of the cases. Therefore, in most cases, neither parent has the syndrome or carries the defective gene and the cause of the deletion is unknown. VCFS is the fourth most common birth defect and occurs in 1 out of every 700 live births. Currently, 1 in every 2,000 people is said to have the disorder. Estimates show that there are over 130,000 individuals with this syndrome in the United States. The history of VCFS can be rather complicated. The first description of the syndrome was made in 1968 by Dr. William Strong. Since then, it was described by various other doctors and was given several different names including conotruncal anomaly face syndrome (CTAF), DiGeorge syndrome, Opitz G/BBB syndrome, and finally in 1978, it was identified as velocardiofacial syndrome. Since there are several diagnostic names for the disorder, many professionals now refer to patients simply as having a 22q11.2 deletion.

52. Child Health And Safety > Babies With DiGeorge Syndrome Saved By Immune Supressi
    DURHAM, NC Duke University Medical Center researchers have developed a combination immune suppre.  
    http://www.emaxhealth.com/50/1585.html
    
    Extractions: By Duke Health on Mar 01 2005 14:15:05 DURHAM, N.C. - Duke University Medical Center researchers have developed a combination immune suppression and thymus transplantation technique to save infants born with complete DiGeorge Syndrome, a fatal genetic disorder. Babies with complete DiGeorge Syndrome have no thymus, a gland important in the maturation of T cells - specialized immune cells that help protect the body against viruses, bacteria and other pathogens. The thymus teaches T cells to fight infection while not attacking the infant's own tissues. Duke is the only center to offer thymus transplantation as a cure for the immune defect. Without this treatment, infants with complete DiGeorge syndrome are unable to fight off infections and will die. Until recently, some babies with complete DiGeorge could not receive a thymus transplant because some of their bone marrow cells had spontaneously transformed into rogue T cells. These T cells attack both the body's own tissues and foreign tissue, so thymus transplants would be rejected.

53. DiGeorge Syndrome
    courtesy of JISCmail). Gene Deletion; digeorge syndrome; Chromosomes, Human, 21-22 and Y; evidencebased approaches to clinical management. (  
    http://omni.ac.uk/browse/mesh/D004062.html
    
    Extractions: low graphics broader: Immunologic Deficiency Syndromes other: Agammaglobulinemia Ataxia Telangiectasia HIV Infections Severe Combined Immunodeficiency ... vcfs-uk A forum for discussion of human 22q11 deletion and associated clinical syndromes, including VCFS (velocardiofacial syndrome). Aims: (1) communication between researchers, clinicians, and parents/patients, and (2) development of multidisciplinary and evidence-based approaches to clinical management. (Description courtesy of JISCmail). Gene Deletion DiGeorge Syndrome Chromosomes, Human, 21-22 and Y

54. MyDNA.com - DiGeorge Syndrome
    myDNA is a consumer focused health, genetics, and genomics information provider offering disease condition information, health wellness tips,  
    http://www.mydna.com/genes/genetics/disorders/disease/immune/digeorge.html
    
    Extractions: Page Tools Print This Page E-Mail This Page Add to Favorites Genetics Genetics News Ask Dr. DNA Top Tens Genetics 101 Genetic Testing Genetic Disorders Genes and Disease Blood Diseases Cancer Digestive System Ear, Nose and Throat Female-Specific Disease Glands and Hormones Heart and Blood Vessels Immune System Male Specific Disease Muscle and Bone Neonatal Diseases Nervous System Nutritional and Metabolic Respiratory Diseases Skin, Connective Tissue

55. Information About DiGeorge Syndrome
    This page contains information about digeorge syndrome.  
    http://www.mamashealth.com/syndrome/digeorge.asp
    
    Extractions: What is DiGeorge Syndrome? DiGeorge syndrome is a rare congenital disease characterized a history of recurrent infection, heart defects and unique facial features. What Causes DiGeorge Syndrome? DiGeorge syndrome is caused by a large deletion from chromosome 22. The deletion is a result of an an error in recombination at meiosis. Several genes from chromosome 22 are not present in DiGeorge syndrome patients. Symptoms of DiGeorge Syndrome? The symptoms vary greatly between individuals. Researches believe that the variation in the symptoms is related to the amount of genetic material lost in the chromosomal deletion. The more genetic material is lost, the greater the amount of symptoms. Some common symptoms are: Treatment Options?

56. DiGeorge Syndrome : MCG Health System
    The history of the syndrome, previously referred to as DiGeorge, includes the The name of digeorge syndrome was applied to this group of features.  
    http://www.mcghealth.org/Greystone/heart/digeorge.html
    
    Extractions: Heart Care News 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. The history of the syndrome, previously referred to as DiGeorge, includes the following discoveries: The name of DiGeorge syndrome was applied to this group of features.

57. The DiGeorge Syndrome
    The digeorge syndrome is a primary immune deficiency disease which is caused by Most patients with the digeorge syndrome have a small deletion in a  
    http://www.immunedisease.com/US/patients/IDF/digeorge.html
    
    Extractions: The D i George Syndrome The DiGeorge Syndrome is a primary immune deficiency disease which is caused by abnormal development of certain cells and tissues of the neck during growth and differentiation of the fetus. As part of the developmental defect, the thymus gland may be affected and T-lymphocyte function may be impaired. DEFINITION: Patients with the DiGeorge Syndrome do not all show the same organ involvement. A given organ may be uninvolved, or so mildly involved that the organ appears to be normal. Patients with the DiGeorge Syndrome may have any or all of the following: Facial appearance - affected children may have an upward bowing of their mouth, an underdeveloped chin, eyes that slant somewhat downward, low set ears and defective upper portions of their ear lobes. These facial characteristics vary greatly from child to child and may not be very prominent in many affected children. Parathyroid gland abnormalities Heart defects - affected children may have a variety of heart (or cardiac) defects. For the most part, these anomalies involve the aorta and the part of the heart from which the aorta develops. As with other organs affected in the DiGeorge Syndrome, heart defects vary from child to child. In some children, heart defects may be very mild or absent. Thymus gland abnormalities - affected infants and children may have abnormalities of their thymus. The thymus gland is normally located in the upper area of the front of the chest. However, the thymus begins its development high in the neck during the first three months of development in the uterus. As the thymus matures and gets bigger, it drops down into the chest to its ultimate location under the breastbone and over the heart.

58. UNSW Embryology-OMIM DIGEORGE SYNDROME
    digeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid digeorge syndrome overlaps clinically with the disorder described by the  
    http://embryology.med.unsw.edu.au/OMIMfind/endocrine/OMIM-188400.htm

59. || DukeMedNews || Babies With DiGeorge Syndrome Saved By Immune Supression, Thym
    Duke University Medical Center researchers have developed a combination immune suppression and thymus transplantation technique to save infants born with  
    http://news.mc.duke.edu/news/article.php?id=7983

60. You Ll Find Hundreds Of Files On Cleft Lip, Cleft Palate Here On
    It is possible that digeorge syndrome may not be the name that you expected. digeorge syndrome is a very rare group of congenital abnormalities that are  
    http://www.widesmiles.org/cleftlinks/WS-583.html
    
    Extractions: Last Updated: 6/15/94 DIGEORGE ANOMALY http://www.icondata.com/health/pedbase/files/DIGEORGE.HTM (the following is the complete page, no other info on it available here) DEFINITION: A disorder characterized by injury to a developmental field affecting the development of pharyngeal pouches resulting in cardiac, facial, immune, and parathyroid anomalies.

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