21. Immunologic Diseases On Chronic Granulomatous Disease, XLinked - PedBase. digeorge syndrome(Thymic Dysplasia) About digeorge syndrome - Jeffrey Modell http://www.mic.ki.se/Diseases/c20.html

search help staff Immunologic Diseases Patients and laypersons looking for guidance among the target sources of this collection of links are strongly advised to review the information retrieved with their professional health care provider. Alphabetical List of Diseases Search PubMed at NCBI/NLM Immonology Bowers et al. ; educ.] - Univ of South Carolina (US) A 4-pages introduction to The Immune System - Nobel Foundation About the Immune System - NCI/NIH (US) The Anatomy of the Immune System , and an Immunology Glossary - Univ of Leicester (UK) Basic Immunology G Heath ] - Optometry Today, Feb 2002 (UK) The Human Immune System K Bendtzen ] - Rigshospitalet (DK) Understanding the Immune System Schindler et al. ] - Cancer.gov (US) Immunobiology. 5th ed. Janeway et al. , 2001; online book] - via PubMed, NLM (US) The Immune System TJ Copeland An Immunology Study Sheet - Medical Study Guides, Univ of Kansas (US) How Your Immune System Works M Brain Immunobiology animations [Flash 5 Player required] - Garland Science Publ. (UK) Immunological Disorders Edgar and Sewell ; sample chapter] - Textbook of Medicine/Souhami et al.

22. DiGeorge Syndrome AHIS. SEARCH BROWSE ABOUT WHAT'S NEW SUBMIT SITE TRAINING SITE MAP, digeorge syndromeup. Chromosomes, Human, 2122 and Y; digeorge syndrome; Gene Deletion. http://omni.ac.uk/browse/mesh/detail/C0012236L0012236.html

DiGeorge Syndrome [up] Related topics: broader Abnormalities other Abnormalities, Multiple Agammaglobulinemia Ataxia Telangiectasia Cardiovascular Abnormalities ... 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). Chromosomes, Human, 21-22 and Y DiGeorge Syndrome Gene Deletion Last modified 28/Mar/2003 [Low Graphics]

23. News Story - InfoSpace News Web Articles Health Facts New Link to digeorge syndrome Gene that helps Moreinformation. Here's where you can learn more about digeorge syndrome. http://kevxml2a.infospace.com/_1_300313__health/health/hlt-story.htm&qid=511634&

Yellow Pages White Pages Classifieds Shopping ... Health Center News Story Search Health Today Women Men Kids ... Web Sites Today's Health Headlines - brought to you by HealthSCOUT Reliable, readable, and relevant original health news stories each day. News Web Articles Health Facts 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.

24. UNSW Embryology-OMIM DIGEORGE SYNDROME Embryology Home Page. digeorge syndrome. Select Entry from OMIM. List of OMIMsearch results. *188400 digeorge syndrome; DGS. Alternative titles; symbols. http://anatomy.med.unsw.edu.au/cbl/embryo/OMIMfind/endocrine/OMIM-188400.htm

UNSW Embryology DEVELOPMENT OF THE ENDOCRINE SYSTEM Embryology Home Page DIGEORGE SYNDROME Select Entry from OMIM Online Mendelian Inheritance in Man (Internet Link) This page is for computers without external internet access. Back to UNSW Embryology-Kidney Notes List of OMIM search results *188400 DIGEORGE SYNDROME; DGS Alternative titles; symbols HYPOPLASIA OF THYMUS AND PARATHYROIDS THIRD AND FOURTH PHARYNGEAL POUCH SYNDROME DIGEORGE SYNDROME CHROMOSOME REGION, INCLUDED; DGCR, INCLUDED SHPRINTZEN VCF SYNDROME, INCLUDED TAKAO VCF SYNDROME, INCLUDED CONOTRUNCAL ANOMALY FACE SYNDROME, INCLUDED VELOCARDIOFACIAL SYNDROME, INCLUDED CATCH22, INCLUDED TABLE OF CONTENTS DESCRIPTION NOMENCLATURE CLINICAL FEATURES BIOCHEMICAL FEATURES ... Database Links Gene Map Locus: Note: pressing the symbol will find the citations in MEDLINE whose text most closely matches the text of the preceding OMIM paragraph, using the Entrez MEDLINE neighboring function.

25. Cardiovascular Disorders - DiGeorge Syndrome What is digeorge syndrome? The history of the syndrome, previously referred to asDiGeorge, includes the following discoveries What causes digeorge syndrome? http://app1.unmc.edu/nhs/healthinfo/pediatrics/html/cardiac/digeorge.htm

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. DiGeorge Syndrome 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)

26. DiGeorge's Syndrome digeorge syndrome. Disease type Genetic Disorder Chromosome 22Pathology. 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.

27. DIGEORGE SYNDROME Features Listed For digeorge syndrome. McKusick 188400. Absent/hypoplasticthymus; Cleft palate; Cleft upper lip (nonmidline); Cleft uvula; http://www.hgmp.mrc.ac.uk/dhmhd-bin/hum-look-up?468

28. Columbia News ::: Graduate To Continue Research On Understanding DiGeorge Syndro Graduate to Continue Research on Understanding digeorge syndrome. ByJames Devitt. Loydie JeromeMajewska. As a teenager, Loydie Jerome http://www.columbia.edu/cu/news/02/05/cv_diGeorge_student.html

the Public Affairs and Record Home Page Current News News Archive Video Briefs Video Forums ... Home Page Graduate to Continue Research on Understanding DiGeorge Syndrome By James Devitt Loydie Jerome-Majewska As a teenager, Loydie Jerome-Majewska wanted to be a doctor. But after volunteering in the emergency room of a hospital in Queens during her senior year in high school, she quickly learned that she couldn't stand the sight of blood. She eventually set her sights on laboratory work and completed her Ph.D. with distinction in December in the Integrated Program in Cellular, Molecular and Biophysical Studies at Columbia's Health Sciences Campus. While Jerome-Majewska's aversion to the sight of blood did not cease, she remains dedicated to addressing an affliction that complicates the distribution of blood throughout the body. Her research focused on the function of a transcription factor gene, Tbx1, as the key gene in DiGeorge Syndrome, an affliction that results from abnormal development of the face, thymus and parathyroid glands, and heart. DiGeorge Syndrome, the second most common cause of congenital heart defects after Down Syndrome, affects 1 in 3,000 to 4,000 children born each year. "When Loydie joined the laboratory, this obscure gene had been recently discovered and was known to be a candidate for involvement in DiGeorge Syndrome," said Virginia Papaioannou, a professor of genetics and development, who supervised Jerome-Majewska's dissertation. "However, 20 or 30 other genes were also candidates, and Tbx1 was not the current favorite. During the course of her studies, Loydie characterized the Tbx1 genomic locus, compared the mouse gene with the human, and produced a mutation in the mouse gene using gene targeting technology. Her work established this gene as the key gene in the DiGeorge Syndrome and had a profound impact on research on this human disorder."

29. DiGeorge Syndrome . The prevalence of DiGeorgesyndrome, is debated; the estimates range from 14000 to 16395....... digeorge syndrome. Definition. http://www.healthatoz.com/healthatoz/Atoz/ency/digeorge_syndrome.html

Encyclopedia Index D Home Encyclopedia Encyclopedia Index D DiGeorge syndrome 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

30. Nature Publishing Group pp 173 182 VEGF A modifier of the del22q11 (DiGeorge) syndrome? Tbx1 haploinsufficiencyin the digeorge syndrome region causes aortic arch defects in mice. http://www.nature.com/cgi-taf/DynaPage.taf?file=/nm/journal/v9/n2/full/nm819.htm

31. EPEC - Educating Parents Of Extra-special Children - DiGeorge Syndrome digeorge syndrome. DIGEORGE offspring). This deletion means that severalgenes from this region are not present in digeorge syndrome patients. http://www.epeconline.com/DiGeorge.html

Educating Parents of Extra-special Children (EPEC) A resource of information for adults with special needs and parents with special needs children. DiGeorge Syndrome 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. The above information was provided by: National Center for Biotechnology Information http://www.ncbi.nlm.nih.gov/

32. The Contact A Family Directory - DIGEORGE SYNDROME printer friendly, digeorge syndrome, digeorge syndrome DGS ShpritzenSyndrome VCFS, 22Q11 deletion CATCH 22. This condition is http://www.cafamily.org.uk/Direct/d29.html

printer friendly DIGEORGE SYNDROME home more about us in your area conditions information ... how you can help search this site DiGeorge Syndrome: DGS: Shpritzen Syndrome: VCFS, 22Q11 deletion: CATCH 22. This condition is named after DiGeorge who originally described a group of children with impaired resistance to infections and abnormal calcium levels. It subsequently became apparent that many had heart defects, a characteristic facial appearance and learning disability. Professor Shprintzen then described a group of children who were facially similar to one another and had palatal defects, heart problems and learning disability. It is now known that the majority of both these groups of patients have a tiny piece missing from the long arm of one of the 22nd pair of chromosomes. This is known as a 22q11 deletion. The effects of this deletion are extremely variable and the syndrome is given a variety of names, (for example Velo-cardio-facial syndrome (VCFS) (see separate entry), DiGeorge syndrome (DGS), Shprintzen syndrome, 22q11 deletion syndrome (see separate entry), CATCH 22), depending on the symptoms and signs in an individual and who makes the diagnosis. The most frequently noted problems are congenital heart defects, reduced immunity to infection due to partial or complete absence of the thymus gland, low calcium levels due to abnormality of the parathyroid glands, cleft palate or abnormal function of the palate, short stature, learning difficulties and/or delayed development (usually mild). There tends to be a characteristic facial appearance with unusually small head, small mouth and prominent nose.

33. NEJM Transplantation Of Thymus Tissue In Complete DiGeorge Original Article from The New England Journal of Medicine Transplantationof Thymus Tissue in Complete digeorge syndrome. http://dx.doi.org/10.1056/NEJM199910143411603

34. A To Z Encyclopedia Topic: DiGeorge Syndrome Endocrinology Program. digeorge syndrome. The Thymus and ParathyroidGlands What is digeorge syndrome? The history of the syndrome http://web1.tch.harvard.edu/cfapps/A2ZtopicDisplay.cfm?Topic=DiGeorge Syndrome

35. DiGeorge Syndrome Links digeorge syndrome Links. Unniversity of Washington Some pics of chromesomeswith digeorge syndrome; Family Village - VCFS and digeorge syndrome Page; http://www.emilykramer.net/digeorge/digeorge.htm

DiGeorge Syndrome Links Please forgive all the "alphabet soup" I use in describing many of the organizations that provide the links below. I don't mean to slight any of these wonderful resources, but space on this page is at a premium. I have checked all of these links to make sure that they are still connected, but sites open and close fairly frequently. If you find a broken link, send me an e-mail below and I will check it out and do my best to repair it. Click on the links below to see the page. It will open up a separate browser window. Just close the window to come back to this page. Unniversity of Washington - Some pics of chromesomes with Digeorge Syndrome Family Village - VCFS and Digeorge Syndrome Page NCBI - DiGeorge Syndrome Page (A little technical) U of Kansas Med Center Genetics Ed Center's - VCFS and DiGeorge Syndrome Page ... Giant-Step Day Program Page (Another really neat site!) By printing, downloading, or otherwise reproducing any of the information listed in the pages of this website, you are declaring that the author(s) of this website can in no way be held responsible for any problems of any kind that you may have based on any use of it's content. We are not medical professionals of any kind. We have included the information and links of the pages of this website as background information only. If you want or need technical information about any of the topics listed on any of the pages of this website, please go to a professional source.

36. Chromosome Deletion That Causes DiGeorge Syndrome Found In Mice 713798-4712 pa@bcm.tmc.edu. Chromosome deletion that causes digeorge syndromefound in mice. digeorge syndrome occurs in one of every 4,000 babies. http://public.bcm.tmc.edu/pa/digeorge.htm

pa@bcm.tmc.edu Chromosome deletion that causes DiGeorge Syndrome found in mice HOUSTONA mouse model for studying a congenital heart disease has provided clues about the genetic cause and a possible way to prevent the disorder. Researchers at Baylor College of Medicine and Howard Hughes Medical Institute (HHMI) in Houston created the mouse model to study DiGeorge syndrome, a genetic disorder that causes potentially lethal heart defects. They identified the deleted portion of the chromosome that produces the defects and found that duplicating this chromosome region can prevent the defects. Their study is reported in the Sept. 23 issue of the scientific journal Nature. DiGeorge syndrome occurs in one of every 4,000 babies. About eight percent of patients with the disorder die from a defect in the aorta that prevents the lower part of the body from receiving oxygenated blood. The defect must be surgically repaired during the first few days of life. Other patients with DiGeorge syndrome might develop related heart problems that require surgery within the first several months, facial abnormalities, mild retardation and psychiatric problems. In humans, the disorder has been traced to a missing portion of chromosome 22. This chromosome deletion, known as del22q11, spans approximately 25 genes, although which one of those missing genes causes the syndrome remains unknown. The deletion occurs on only one of the two chromosomes 22; the other chromosome in the pair is normal.

37. Health Library - DiGeorge Syndrome digeorge syndrome. Synonyms The thymus and parathyroid glands are missingor underdeveloped in children with digeorge syndrome. The http://health_info.nmh.org/Library/HealthGuide/IllnessConditions/topic.asp?hwid=

38. MGZ Munich --- DiGeorge Syndrome digeorge syndrome Clinical Features The severity of the clinical picturein digeorge syndrome is very variable. The full clinical http://www.mgz-muenchen.de/english/digeorge.html

MGZ - Munich - Analyses About us Analyses Who is who Contacts ... Address DiGeorge syndrome Clinical Features The severity of the clinical picture in DiGeorge syndrome is very variable. The full clinical picture of the disease often has severe clinical symptoms (i.e. Heart defects, T-cell immune defects), although milder forms have been described. DiGeorge syndrome results from a developmental defect of the 4th and 5th pharyngeal pouches. From this various deformations of the affected organs can occur: Hypoplasia or aplasia of the Thymus with T-cell defects and immune weakness, Hypoplasia of the parathyroid with hypercalcaemia and cramps, heart failure (especially conotruncal defects), facial dysmorphia (widely speced eyes, short palpebral fissures cleft palate, wide bulbous nose, short philtrum, small pointed mouth, microretrogenia, deep seated dysmorphic ears, arrhinocephaly, renal aplasia and skeletal deformations. Genetics The DiGeorge Syndrome as well as VCFS (VCFS or Shprintzen Syndrome) are caused by a deletion in the long arm of chromosome 22 (22q11.2), that leads to a partial monosomy which can be demonstrated in approximately 90% of the patients. As with the other microdeletion syndromes isolated cases exist although families exist with several affected members. The inheritance pattern indicates dominant inheritance with variable degrees of expression. 15 - 20 % of affected individuals have inherited the deletion from an apparently healthy parent which shows that facial dysmorphia can be inherited.

39. Health Library - DiGeorge Syndrome digeorge syndrome. Synonyms The thymus and parathyroid glands are missingor underdeveloped in children with digeorge syndrome. The http://www.laurushealth.com/library/healthguide/illnessconditions/topic.asp?hwid

40. DiGeorge Syndrome . The prevalence of DiGeorgesyndrome, is debated; the estimates range from 14000 to 16395.......MAIN SEARCH INDEX digeorge syndrome. http://www.hendrickhealth.org/healthy/000433.htm

MAIN SEARCH INDEX DiGeorge syndrome Definition Description Causes and symptoms Diagnosis ... Resources 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

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