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

Molecular Medicine Unit Projects (1) DiGeorge syndrome (DGSI)/CATCH22 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 ABSTRACT 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

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

Home Search Browse Resources ... About Immunologic Evaluation in Patients With DiGeorge Syndrome or Velocardiofacial Syndrome This study is currently recruiting patients. 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 Shprintzen syndrome Chromosome Abnormalities Abnormalities, Multiple Conotruncal Cardiac Defects MedlinePlus related topics: Birth Defects Congenital Heart Disease Immune System and Disorders Genetics Home Reference related topics: 22q11.2 deletion 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

Home Search Browse Resources ... About Velocardiofacial (VCFS; 22q11.2; DiGeorge) Syndrome Study This study is currently recruiting patients. 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

Public release date: 28-Feb-2005 E-mail Article Contact: Heather Cosel coselpie@cshl.edu Cold Spring Harbor Laboratory Deciphering DiGeorge syndrome Big advances in understanding microdeletions 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

CHORUS Collaborative Hypertext of Radiology Multisystem entities About CHORUS Search Feedback 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 Related CHORUS documents: Beckwith-Wiedemann syndrome cleidocranial dysostosis Down syndrome cerebello-pontine angle (CPA) tumor ... pulmonary embolism: findings Search for related articles: AJR American Journal of Roentgenology PubMed : index to biomedical literature ... Medical College of Wisconsin

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

DiGeorge syndrome absent thymus + parathyroids (branchial cleft anomaly) can't diagnose from CXR (stress or infection > involution of thymus) Home Multisystem entities

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/

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); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses 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 Our Story Be a Guide ... 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

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); FREE Newsletter Sign Up Now for the Rare / Orphan Diseases newsletter! See Online Courses Search Rare / Orphan Diseases Stay up to date! Compare Prices Email to a friend ... Print this page 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

Disorder Zone Archives Velocardiofacial Syndrome/ DiGeorge Syndrome Daniel Avram 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