81. Cook Children's Health Care // 404 Page Not Found     digeorge syndrome The Thymus and Parathyroid Glands The thymus glandis located What is digeorge syndrome? The history of the syndrome http://www.cookchildrens.com/CC/Ped/allergy/digeorge.htm

Site Doctors Donate Now Contact Us Home About Cook Children's ... Wish List Testimonials -Anna Marie, teenage heart patient 404 Page Not Found "Four Oh Four." Oops! The page you have requested has moved or is no longer available. Please go to the Cook Children's home page or search our site. [back to top] Related Information Related Physicians Find A Physician Related Pages Find a Physician Find a Service Kids' Health Quiz According to Texas Law, up to what age must children be in EITHER a federally approved safety seat or a safety belt? A 8 years old B 10 years old C 12 years old D 16 years old privacy notice

82. CMCD Knowledge Base digeorge syndrome The Thymus and Parathyroid Glands. The thymus glandis parathyroid hormone. What is digeorge syndrome? The history http://www.childrens.com/healthinfo/Display.cfm?ID=441&main=406

83. Culprit Fingered In DiGeorge Syndrome Heart Defect Culprit Fingered In digeorge syndrome Heart Defect Imagine having to discover theguiltiest of 24 suspects, each one responsible for an unknown crime in their http://unisci.com/stories/20011/0223014.htm

Home Search Culprit Fingered In DiGeorge Syndrome Heart Defect Imagine having to discover the guiltiest of 24 suspects, each one responsible for an unknown crime in their own right, and you will have an appreciation for the task undertaken by researchers at the University of Pennsylvania Medical Center and the Albert Einstein College of Medicine. DiGeorge Syndrome is known for a variety of congenital problems, and affects one in every 4,000 live births. But most notably it is known for causing cardiovascular defects indeed, the disorder is the second leading cause of heart disease in children. The researchers unmask the DiGeorge Syndrome culprit responsible for heart defects in today's edition of the journal Cell . The gene, Tbx1, normally functions in the development of blood vessels near the heart. Its discovery paves the way for prenatal testing for the defect and better preparation for the effects of the DiGeorge Syndrome at birth. "Oftentimes a syndrome is a catchall term for a host of separate, yet related, problems," said Jonathan Epstein, MD, Assistant Professor of Cardiology and co-author of the Cell paper. "Up until now, we have only known that the syndrome can be caused by the loss of a small portion of a particular chromosome, the so-called DiGeorge region.

84. 1Up Health > Health Links Directory > Conditions And Diseases: Genetic Disorders Her daughter has DiGeorges syndrome. JMFWorld.org digeorge syndrome Detailsthe incidence, signs, symptoms, diagnosis, and treatments for this disease. http://www.1uphealth.com/links/genetic-disorders-digeorge-syndrome.html

Home Contact Us Privacy Caring For Your Well Being Alternative Medicine Clinical Trials Health News Poisons ... Health Topics A-Z Search 1Up Health Health Directory Addictions Alternative Animal ... Weight Loss By Demography Child Health Teen Health Men's Health Women's Health ... Genetic Disorders : DiGeorge Syndrome See Related Categories Health: Conditions and Diseases: Genetic Disorders: Velo-Cardio-Facial Syndrome Health: Conditions and Diseases: Immune Disorders Sites Dr. Greene's HouseCalls The doctor answers a question from a mother about strengthening her daughter immune system. Her daughter has DiGeorges syndrome. JMFWorld.org - DiGeorge Syndrome Details the incidence, signs, symptoms, diagnosis, and treatments for this disease. National Library of Medicine: DGS DiGeorge syndrome, the synonyms, a summary and list of major features. NCBI Genes and Diseases An article about DiGeorge syndrome with a description, causes, research and treatment. Yahoo! Clubs VCFS Family Support Join, post and read mail for this group which concerns DiGeorge Syndrome and Velo-Cardio-Facial Syndrome. Help build the largest human-edited directory on the web.

85. Allergy, Asthma, And Immunology - DiGeorge Syndrome Allergy, Asthma, and Immunology digeorge syndrome. The Thymus and ParathyroidGlands The thymus What is digeorge syndrome? The history http://www.mmhs.com/clinical/peds/english/allergy/digeorge.htm

English - Adult English - Pediatric Spanish - Adult Spanish - Pediatric Allergy, Asthma, and Immunology DiGeorge Syndrome 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

86. Page Not Found digeorge syndrome. Syndrome, digeorge syndrome. Gene Name, digeorge syndromechromosome region. Gene Symbol, CATCH22. OMIM Number of the Gene, 188400. http://www.nidr.nih.gov/cranio/detail/188400.htm

Please check to see if you entered the correct URL. If you did, it might be that the link no longer exists. As an option, you may do a search of our site. If all else fails, please fill in the form below and send it to the webmaster to report the broken link. Your Name: Email Address: Please indicate the broken URL here: Your browser doesn't support JavaScript. It will, however, affect only two minor things: it will distort the page appearance and will disable the "printer-friendly version" link. NIDCR Home Page Contact us Accessibility Privacy statement ... Search Image in banner: magnified fluoride crystal National Institute of Dental and Craniofacial Research National Institutes of Health Bethesda, MD 20892-2190 e-mail: nidcrinfo@mail.nih.gov phone: 301/496-4261 National Institutes of Health Department of Health and Human Services

87. Molecular Medicine Unit Molecular Medicine Unit Projects (1). digeorge syndrome (DGSI)/CATCH22. MostCases of digeorge syndrome have Deletions Within 22q11. 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.

88. Duke Faculty Research Directory - Faculty Info - Mary Louise Markert, M.D., Ph.D Dr. Markert is currently investigating the role of the thymus in postnatalT cell development in complete digeorge syndrome. Complete http://faculty.duke.edu/faculty/info?pid=1221

89. Digeorge Syndrome | Building Better Health You are here Home Health A to Z digeorge syndromeHealth Topics AZ digeorge syndrome. Frey, Rebecca J. http://www.buildingbetterhealth.com/topic/topic100586712

Medical Library Cool Tools Women's Health Men's Health ... Drug Dictionary You are here: Home Health A to Z Health Topics A-Z Digeorge Syndrome Frey, Rebecca J. Below: 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 fetal alcohol syndrome (a pattern of birth defects, and learning and behavioral problems affecting individuals whose mothers consumed alcohol during pregnancy).

90. Case 127 --Pediatric Pathology Case Fluorescent in situ hybridization of the buccal mucosa found a 22q11deletion, confirming the diagnosis of digeorge syndrome. The http://path.upmc.edu/cases/case127.html

Case 127 A 24-day-old Term Infant with Seizures Contributed by Valerie A. Lyons, M.D. and Paul S. Dickman, M.D. Published on line in December 1997 PATIENT HISTORY: This 24-day-old term infant had an uncomplicated prenatal history and developed failure to thrive and seizures. He received 60cc of unirradiated packed red blood cells for anemia of unknown etiology and prophylactic antibiotic therapy for possible sepsis as evidenced by seizures. Following transfusion therapy, a chest x-ray and echocardiogram revealed an enlarged heart and truncus arteriosus with a large ventricular septal defect. The infant was admitted to Children's Hospital of Pittsburgh (CHP) in congestive heart failure. On physical exam the infant appeared normal. Seizure activity remitted with calcium supplementation. The infant developed an erythematous papular rash, predominantly on the face, trunk and upper extremities. Skin biopsy revealed histologic features suggestive of a drug rash, with mild eosinophilia in the papillary dermis and vascular channels. Fluorescent in situ hybridization of the buccal mucosa found a 22q11 deletion, confirming the diagnosis of DiGeorge syndrome. The infant received broad spectrum antibiotics and antifungal therapy for possible sepsis. A tracheal aspirate grew E. cloacae and a urine culture grew Candida species. All other cultures failed to identify organisms.

91. Researcher Finds Gene For DiGeorge Syndrome Molecular Cardiology. Researcher finds gene for digeorge syndrome. Tbx1 haploinsufficiencyin the digeorge syndrome region causes aortic arch defects in mice. http://www.cardiologytoday.com/200104/digeorge.asp

Molecular Cardiology Researcher finds gene for DiGeorge Syndrome Tbx1, a transcription factor regulating other genes, may hold clues to other birth defects. April 2001 Using a mouse model, Antonio Baldini, MD, an associate professor of pediatric cardiology and molecular and human genetics at Baylor College of Medicine, and his team found that Tbx1 is the genetic cause of DiGeorge Syndrome. The discovery was reported in Nature "Since this gene is a transcription factor that regulates other genes, we think that by studying what it controls, we should be able to get a handle on a number of birth defects," Baldini said. DiGeorge Syndrome, which affects one in 4,000 babies, produces a range of symptoms including structural heart defects and the absence of the thymus and parathyroid glands. Some infants must have corrective heart surgery in the first days of life. Infections, seizures and facial abnormalities, especially of the jaw, also are seen. Many of those diagnosed with DiGeorge Syndrome suffer from borderline mental retardation, although it remains to be demonstrated whether the deletion of Tbx1 can also cause this symptom. Previously, the disorder had been linked to a missing portion of the chromosome 22.

92. Digeorge Syndrome | AHealthyAdvantage You are here Home Health A to Z digeorge syndrome. digeorge syndrome. Inaddition, 74% of fetuses with digeorge syndrome have severe heart defects. http://www.ahealthyadvantage.com/topic/topic100586712

Site Search Ills and Conditions Women's Health Men's Health Senior Health ... Self-Care Centers Go To Premera Home Provider Directory Preferred Drug List Cool Tools ... Health A-Z You are here: Home Health A to Z Digeorge Syndrome Digeorge Syndrome Frey, Rebecca J. Below: 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 fetal alcohol syndrome (a pattern of birth defects, and learning and behavioral problems affecting individuals whose mothers consumed alcohol during pregnancy).

93. Digeorge, Syndrome : Arborescences MeSH Translate this page digeorge, syndrome. digeorge, syndrome C16.131.300 page CISMeF du motclefmalformation origine chimique C16.131.042 page CISMeF du motclef http://www.chu-rouen.fr/navimesh/navidigeorgesyndrome.html

Digeorge, Syndrome : arborescences MeSH Menu général CISMeF Vous pouvez aussi consulter toutes les arborescences des mots clés utilisés dans CISMeF maladies et malformations congénitales, héréditaires et néonatales malformations anomalies chromosomiques DiGeorge, syndrome ... troubles activité bactéricide phagocytaire 27 février 2003 courriel Menu général CISMeF Haut de page © CHU de Rouen . Toute utilisation partielle ou totale de ce document doit mentionner la source.

94. VCFS, DiGeorge Syndrome, Etc 22q11 DELETION syndrome VELOCARDIO-FACIAL syndrome, SHPRINTZEN syndrome,DiGEORGEsyndrome, 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. 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 LIST OF 22q11 REFERENCE ARTICLES Internet VCFS support e-mail list 22q deletion Interest Board 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

95. VEGF: A Modifier Of The Del22q11 (DiGeorge) Syndrome? Published online 21 January 2003, doi10.1038/nm819 February 2003 Volume 9 Number2 pp 173 182 VEGF A modifier of the del22q11 (digeorge) syndrome? http://www.nature.com/cgi-taf/DynaPage.taf?file=/nm/journal/v9/n2/abs/nm819.html

96. DiGeorge's Syndrome (www.whonamedit.com) digeorge's syndrome A condition characterised by abnormality of the thymus, parathyroidsand great vessels arising from developmental failure of the third and http://www.whonamedit.com/synd.cfm/2299.html

Home List categories Eponyms A-Z Biographies by country ... Contact DiGeorge's syndrome Also known as: DiGeorge’s anomaly DiGeorge’s sequenz Synonyms: CATCH22 (Cardiac Abnormality/abnormal facies, T cell deficit due to thymic hypoplasia, Cleft palate, Hypocalcaemia due to hypoparathyroidism resulting from 22q11 deletion), congenital aplasia of thymus, familial third and fourth pharyngeal pouch syndrome, immunodeficiency with hypoparathyroidism, pharyngeal pouch syndrome, third and fourth pharyngeal pouch syndrome, thymic and parathyroid agenesis syndrome, thymic aplasia syndrome. Associated persons: Angelo Mari DiGeorge Description: A condition characterised by abnormality of the thymus, parathyroids and great vessels arising from developmental failure of the third and fourth pharyngeal pouches. It is associated with facial deformity (ears, nose and mouth), hypoparathyroidism, and frequent infections (to which resistance is low), due to lack of T cell lymphocytes. B cell lymphocytes are present in normal numbers and immunoglobulin levels may be normal. Most infants die from infections, cardiovascular defects or seizures within the first few months or second year of life. Patients who survive infancy are usually mentally retarded. The syndrome is twice as common males as in females. Most cases are sporadic, but it also occurs as autosomal recessive, autosomal dominant, and X-linked traits. The sequence was first described by Wilhelm Wernstedt (born 1872), professor of paediatrics and Dean of Karolinska Institutet – the Royal Caroline Institute – in Stockholm, and E. Böttiger, in 1927.

97. DiGeorge's Syndrome Information Page Diseases Database digeorge's syndrome Information Page. digeorge's syndrome aka/or Third andfourth pharyngeal arch syndrome of Di George aka/or CATCH phenotype http://www.diseasesdatabase.com/sieve/item1.asp?glngUserChoice=3631

98. VCFS Educational Foundation, Inc Main Page Details about this organization as well as an extensive fact sheet about the disease. Includes details Category Health Conditions and Diseases VeloCardio-Facial syndrome...... VCFS also known as the Shprintzen syndrome, digeorge Sequence and, regrettably,Catch 22 is caused by the deletion of a small segment of the long arm of http://www.vcfsef.org/

Velo-Cardio-Facial Syndrome Educational Foundation, Incorporated You are visitor number: Site Updated: Mar 1, 2003 2003 VCFSEF Conference (Click Photo Below) August 1 - 3, 2003 San Diego, California Quick Finder Choose from List Home About VCFS Contact Us FAQs Mission Membership Newsletters Officers Spanish Information Support Groups Your comments are welcome. This site maintained by: Kelvin P. Ringold Home About VCFS Contact Us ... WHATZ NEW? Register for the 9th Annual VCFSEF Conference in San Diego, CA CLICK HERE for more info Welcome to the Official Web Site of the Velo-Cardio-Facial Syndrome (VCFS) Educational Foundation, Inc. The Foundation is an international not-for-profit, self-help organization dedicated to providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians and other practitioners. The Foundation is independent of and not affiliated with any particular institution. VCFS also known as the Shprintzen Syndrome, DiGeorge Sequence and, regrettably, Catch 22 is caused by the deletion of a small segment of the long arm of chromosome 22 (specified as 22q11.2 deletion), and is one of the most common genetic disorders in humans. Velo-Cardio-Facial syndrome is characterized by cleft palate, heart abnormalities, learning disabilities, and over 180 other clinical findings. Please see the

99. Digeorge's Syndrome one click For Medical Professionals only. digeorge's syndrome,,Print this article, (Angelo Mario digeorge, 20th century, American http://www.amershamhealth.com/medcyclopaedia/Volume VI 2/DIGEORGES SYNDROME.asp

Medcyclopaedia About Medcyclopaedia Amersham Health Search for: Type a word or a phrase. All forms of the word are searchable. Advanced search Browse entry words starting with: A B C D ... Other characters Try our Medcyclopaedia Premium Edition with added tools and functionality tailored to make your working day easier. The following tools are presently available: Expanded search *For Medical Professionals only, registration required Digeorge's syndrome, (Angelo Mario diGeorge, 20th century, American paediatrician), congenital absence of the thymus and parathyroid glands, without agammaglobulinaemia but with frequent infections and delayed development; it is associated with heart and kidney abnormalities. These patients have severe middle ear and inner ear abnormalities: small middle ear cavity with deformities of the ossicular chain , and varying degrees of aplasia or dysplasia of the cochlea RH The Encyclopaedia of Medical Imaging Volume VI:2 Welcome to Medcyclopaedia. This site is open to a public audience, still we want to know a little more about our visitors. Please tick off the boxes that match your profile. Do you live in Europe?

100. Dr. Greene's HouseCalls The doctor answers a question from a mother about strengthening her daughter immune system. Her daughter has DiGeorges syndrome. http://www.drgreene.com/body.cfm?id=21&action=detail&ref=599

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