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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

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
    
    Extractions: 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?

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
    
    Extractions: 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

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
    
    Extractions: Allergy, Asthma, and Immunology 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: In the mid 1960s, an endocrinologist named Angelo DiGeorge, MD, recognized that a particular group of clinical features frequently occurred together, including the following:

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

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
    
    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.

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
    
    Extractions: 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
    
    Extractions: 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
    
    Extractions: 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
    
    Extractions: 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

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
    
    Extractions: 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
    
    Extractions: 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. 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.

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/
    
    Extractions: 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
    
    Extractions: *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

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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