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	What is DiGeorge syndrome?
		This syndrome is typified by conotruncal congenital heart disease, facial abnormalities and endocrine and immune disorders.
		DiGeorge syndrome is characterized by a few specific cardiac malformations, a sub-set of facial attributes, and certain endocrine and immune anomalies.
		Prenatal testing for DiGeorge syndrome is widely available and is recommended for fetuses that have been detected as having cleft palate or heart malformation through ultrasound, and have at least one parent testing positive for the 22q11 microdeletion.
	nvnv.essortment.com /digeorgesyndrom_ruuh.htm (437 words)

	DiGeorge syndrome - Wikipedia, the free encyclopedia
		DiGeorge syndrome is also called Microdeletion 22q11 syndrome (del 22q11.2) and Velocardiofacial syndrome (VCF).
		The 22q11.2 deletion syndrome is diagnosed in individuals with a submicroscopic deletion of chromosome 22 detected by fluorescence in situ hybridization (FISH) using DNA probes from the DiGeorge chromosomal region (DGCR).
		The 22q11.2 deletion syndrome is inherited in an autosomal dominant manner.
	en.wikipedia.org /wiki/DiGeorge_syndrome (393 words)

	Michigan Immunodeficiency Foundation. Information on DiGeorge Syndrome
		DiGeorge Syndrome is also called thymic aplasia (failure of the thymus to develop naturally), thymic hypoplasia (defective development of tissue), or third and fourth pharyngeal arch or pouch syndrome.
		The syndrome is often associated with congenital heart defects, abnormalities of the large blood vessels around the heart, failure of the esophageal tube to develop, abnormalities of facial structures, and of hypoparathyroidism (insufficient secretion of the parathyroid glands).
		DiGeorge Syndrome arises from a disturbance of a normal embryological development (stage in prenatal development between 2-8 weeks) of the pharyngeal pouches between the 6th and 10th weeks of gestation.
	midf.org /michigan_immunodeficiency_foundation_DiGeorge_Syndrome.htm (898 words)

	eMedicine - DiGeorge Syndrome : Article Excerpt by: Sridhar Guduri, MD
		Background: Conditions associated with DiGeorge syndrome are 22q11 deletion syndromes, velocardiofacial syndrome ([VCFS] or Shprintzen syndrome), conotruncal anomaly face syndrome, Cayler syndrome, Opitz-GBBB syndrome, and CHARGE (coloboma, heart anomalies, atresia of choanae, retardation [mental and somatic], genital hypoplasia, and ear anomalies) syndrome.
		DiGeorge anomaly (DGA) is a congenital immunodeficiency characterized by abnormal facies, congenital heart disease, hypocalcemia, and increased susceptibility to infections.
		Angelo DiGeorge first noted the immunological consequences associated with the above conditions and was the first to propose that the concurrent absence of the thymus and parathyroid glands might result from a perturbation in the development of the third and fourth pharyngeal pouches.
	www.emedicine.com /med/byname/digeorge-syndrome.htm (596 words)

	DiGeorge syndrome \| AHealthyMe.com
		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.
		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.
		DiGeorge syndrome is caused either by inheritance of a defective chromosome 22 or by a new defect in chromosome 22 in the fetus.
	www.ahealthyme.com /article/gale/100084461 (1052 words)

	Gale Encyclopedia of Medicine: DiGeorge syndrome (Site not responding. Last check: 2007-10-18)
		DiGeorge syndrome, which is also called congenital thymic hypoplasia, or third and fourth pharyngeal pouch syndrome, is a birth defect that affects the immune system.
		DiGeorge syndrome is caused by inheritance of a defective chromosome 22 -- from the mother in most cases.
		Children with DiGeorge syndrome should be kept on low-phosphorus diets and kept away from crowds or other sources of infection.
	www.findarticles.com /p/articles/mi_g2601/is_0004/ai_2601000431 (712 words)

	The DiGeorge Syndrome (Site not responding. Last check: 2007-10-18)
		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.
		DEFINITION: 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.
		The “field”, or region, of the developing embryo that is affected in the DiGeorge Syndrome controls the development of the face, parts of the brain, the thymus, the parathyroid glands, the heart and the aorta.
	www.immunedisease.net /US/patients/IDF/digeorge.html (1684 words)

	Discarded Thymus Tissue May Save Lives In Digeorge Syndrome Infants (Site not responding. Last check: 2007-10-18)
		DiGeorge Syndrome is primarily a genetic disorder that arises before birth and can affect three organs that are developing in close proximity to each other - the heart, the thymus gland and the parathyroid gland, which regulates the body’s use of calcium.
		Children diagnosed with DiGeorge can show a constellation of disorders, from heart disease to impaired thymus function, but Markert and her team used the transplant technique only on babies born with no thymus tissue.
		This condition is called “complete DiGeorge Syndrome.” Less than one-fourth of children with this severe form have a matched sibling who can be used as a source of donor T cells, which cures the disease.
	www.pslgroup.com /dg/13967e.htm (1256 words)

	Deciphering 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.
		DiGeorge syndrome is a congenital disease that annually affects about 1 in 4000 live births.
		DiGeorge patients are generally missing a small portion of chromosome 22.
	www.innovations-report.com /html/reports/life_sciences/report-41064.html (557 words)

	Culprit Fingered In DiGeorge Syndrome Heart Defect
		DiGeorge Syndrome is known for a variety of congenital problems, and affects one in every 4,000 live births.
		Researchers have known for some time that DiGeorge sufferers have typically lost a portion of Chromosome 22, but it was not until recently that the chromosome was deciphered in the Human Genome Project.
		By identifying the DiGeorge gene for heart disease, it may now be possible to screen for the gene in people with a family history of congenital heart disease.
	unisci.com /stories/20011/0223014.htm (767 words)

	BBC - Health - Conditions - DiGeorge syndrome
		DiGeorge syndrome (DGS) is an inherited condition where several different genes are lost.
		DiGeorge syndrome (DGS) is an inherited condition that lies at the more severe end of a spectrum of syndromes (also known as CATCH22) that occur when a small part of the DNA on chromosome 22 is missing.
		Babies with DiGeorge syndrome are born with a variety of different problems, some or all of which may be present to varying degrees.
	www.bbc.co.uk /health/conditions/digeorge1.shtml (602 words)

	Columbia News ::: Graduate to Continue Research on Understanding DiGeorge Syndrome
		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.
		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.
	www.columbia.edu /cu/news/02/05/cv_diGeorge_student.html (437 words)

	Chromosome deletion that causes DiGeorge syndrome found in mice (Site not responding. Last check: 2007-10-18)
		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.
		This confirmed that the chromosome deletion is responsible for the heart defects in DiGeorge syndrome and provided evidence of the time at which the defects occur.
		But the research yielded a surprise to Baldini and colleagues: When mice with the chromosome deletion were bred with mice that had a duplication, or extra copy, of the same portion of chromosome 16, no heart defects developed.
	www.bcm.edu /pa/digeorge.htm (571 words)

	University of Miami School of Medicine - Glossary - DiGeorge syndrome
		Next to Down syndrome, DiGeorge syndrome is the most common genetic cause of congenital heart disease.
		DiGeorge syndrome is caused by a microdeletion in chromosome band 22q11.2.
		Babies with DiGeorge syndrome are highly susceptible to infections and, in the past, usually died by age 2.
	www.med.miami.edu /glossary/art.asp?articlekey=2996 (291 words)

	Molecular Medicine Unit (Site not responding. Last check: 2007-10-18)
		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.
		In terms of relevance to the DiGeorge syndrome and its related pathologies the observations described above can be synthesised into a hypothesis which predicts that a gene or genes at the DiGeorge syndrome locus have a haploinsufficient effect which results in a defective contribution of the neural crest to the development of branchial arch structures.
		The classical method of localising the critical genes in haploinsufficiency syndromes is to construct a shortest region of deletion overlap map.
	www.ich.ucl.ac.uk /units/mmu2.htm (4531 words)

	DiGeorge syndrome (DGS)
		DiGeorge syndrome is considered by some researchers as a developmental field defect consisting of several casually distinct disorders, rather than a distinct syndromic entity.
		Conditions associated with the development of DiGeorge syndrome include diabetic embryopathy, fetal alcohol syndrome, and Zellweger syndrome.
		Major features of this syndrome have been designated by the Newcastle Upon Tyne Group CATCH 22 (Cardiac, Abnormal facies, Thymic hypoplasia, Cleft palate, and Hypocalcemia), the number 22 indicating deletion of the long arm of chromosome 22 (22q11).
	www.nlm.nih.gov /mesh/jablonski/syndromes/syndrome268.html (312 words)

	Di George/Velocardiofacial Syndrome - FISH Analysis
		Velocardiofacial (Shprintzen) syndrome often presents with overt or submucous cleft palate, conotruncal defects, hypotonia, dysmorphic facies, developmental delay, small stature and velopharyngeal incompetence.
		Patients with clinical features suggestive of DiGeorge syndrome or VCFS may be tested for deletions of 10p13p14 and 22q11.2 simultaneously.
		If a deletion of 22q has already been ruled out and DiGeorge syndrome is still suspected, testing for the 10p deletion only may be ordered.
	www.bcm.edu /geneticlabs/tests/cyto/digeorgevelocardiofacial.html (444 words)

	DiGeorge Syndrome Synonyms, Eastern Carolina
		DiGeorge syndrome is a rare immunodeficiency disorder characterized by various congenital abnormalities that develop because of defects that occur during early fetal development.
		The thymus and parathyroid glands are missing or underdeveloped in children with DiGeorge syndrome.
		The primary problem caused by DiGeorge syndrome is the repeated occurrence of various infections due to a diminished immune system.
	www.uhseast.com /112641.cfm (532 words)

	Child Health and Safety > Babies with DiGeorge Syndrome Saved by Immune Supression, Thymus Transplant
		Building on 12 years of experience in treating DiGeorge syndrome, Louise Markert, M.D., associate professor of pediatrics at Duke University Medical Center, and her colleagues found that quashing the rogue T cells with an immunosuppressant drug given for three days immediately before transplant surgery resulted in successful thymus transplants.
		The transplant method and treatment results for the six infants with DiGeorge syndrome will appear in the Oct. 15, 2004, print issue of the journal Blood and are available online at the journal's Web site, http://www.bloodjournal.org.
		The disorder is often diagnosed initially by identifying birth defects characteristic of complete DiGeorge, including heart abnormalities, low calcium levels because of a missing parathyroid gland, esophageal defects and facial abnormalities such as low-set ears, wide-set eyes and a small jaw.
	www.emaxhealth.com /50/1585.html (911 words)

	DiGeorge Syndrome - Children's Hospital of Philadelphia
		Shprintzen named this group of features velo-cardio-facial syndrome, but the syndrome was also referred to as Shprintzen syndrome.
		It was determined that over 90 percent of all patients with features of DiGeorge, Shprintzen and velo-cardio-facial syndromes had a chromosome deletion in the region of 22q11.
		In other words, this was the same syndrome, but because several different researchers in different areas of expertise had described it, the syndrome carried multiple names.
	www.chop.edu /consumer/your_child/condition_section_index.jsp?id=-9308 (1165 words)

	22q11.2 Deletion Syndrome
		It is now recognized that the 22q11.2 deletion syndrome encompasses the phenotypes previously described as DiGeorge syndrome (DGS) and velocardiofacial syndrome (VCFS) (Shprintzen syndrome) and that the clinical descriptions of DGS and VCFS resulted from an ascertainment bias.
		DGS was originally described as a developmental field defect of the third and fourth pharyngeal pouches with a conotruncal cardiac anomaly and aplasia or hypoplasia of the thymus gland and parathyroid glands.
		If the parents of an individual with the 22q11.2 deletion syndrome have normal FISH studies, the recurrence risk is quite small, but not zero, since parents with germline mosaicism or low level somatic mosaicism have been identified.
	www.geneclinics.org /profiles/22q11deletion/details.html (5289 words)

	MGZ Munich --- DiGeorge syndrome (Site not responding. Last check: 2007-10-18)
		The severity of the clinical picture in DiGeorge syndrome is very variable.
		DiGeorge syndrome results from a developmental defect of the 4th and 5th pharyngeal pouches.
		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.
	www.mgz-muenchen.de /english/digeorge.html (270 words)

	University of Chicago researchers find cause of common genetic disorder
		Researchers from the University of Chicago, Columbia University and Baylor have separately identified genetic abnormalities in mice that are responsible for the multiple malformations associated with a human disorder called DiGeorge syndrome, which is the second most common genetic cause of heart defects.
		Patients with DiGeorge syndrome often have a small piece missing from chromosome 22.
		It causes several symptoms ranging from structural defects of the heart and its vessels, to abnormalities of the thymus and parathyroid glands, to facial irregularities, such as cleft palate.
	www-news.uchicago.edu /releases/01/010301.crkl.shtml (430 words)

	eMedicine - DiGeorge Syndrome : Article by Sridhar Guduri, MD
		DiGeorge AM: Congenital absence of the thymus and its immunologic consequences: concurrence with congenital hypoparathyroidism.
		Driscoll DA, Salvin J, Sellinger B, et al: Prevalence of 22q11 microdeletions in DiGeorge and velocardiofacial syndromes: implications for genetic counselling and prenatal diagnosis.
		Mayumi M, Kimata H, Suehiro Y, et al: DiGeorge syndrome with hypogammaglobulinaemia: a patient with excess suppressor T cell activity treated with fetal thymus transplantation.
	www.emedicine.com /med/topic567.htm (4055 words)

	Information about DiGeorge syndrome
		DiGeorge syndrome is a rare congenital disease characterized a history of recurrent infection, heart defects and unique facial features.
		DiGeorge syndrome is caused by a large deletion from chromosome 22.
		Several genes from chromosome 22 are not present in DiGeorge syndrome patients.
	www.mamashealth.com /syndrome/digeorge.asp (147 words)

	DiGeorge syndrome
		contiguous gene syndrome involving deletion of the DiGeorge syndrome chromosome region (DGCR) involving mutations in TUP-like enhancer of split 1 (TUPLE1) (MIM.600237) and DiGeorge critical region gene 2 (DGCR2) (MIM.600594)
		Baldini A. DiGeorge syndrome: the use of model organisms to dissect complex genetics.
		Botta A, Amati F, Novelli G. Causes of the phenotype-genotype dissociation in DiGeorge syndrome: clues from mouse models.
	www.humpath.com /article.php3?id_article=1090 (174 words)

	Scientists gain new insight into DiGeorge syndrome (Site not responding. Last check: 2007-10-18)
		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.
		Their report will be published in the March 1 issue of the scientific research journal Genes and Development.
		Depending upon location, neural crest cells give rise to most of the peripheral nervous system, as well as various non-neural tissues, like craniofacial bone and cartilage, the thymus and parathyroid glands, and the cardiac outflow tract - in short, all of the tissues that are affected in DiGeorge syndrome.
	www.news-medical.net /?id=8047 (663 words)

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