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Topic: Di George syndrome

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In the News (Wed 20 Jun 18)

  Di George Syndrome
Di George Syndrome is a congenital immune disorder characterized by lack of embryonic development (stage in prenatal development between 2-8 weeks inclusive) or underdevelopment of the third and fourth pharyngeal pouches.
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).
Although the similarity between the Hoxa-3 null mutant phenotype and that of humans affected by the Di George Syndrome is certainly remarkable, the Di George Syndrome is autosomal dominant and associated in certain cases with deletions and translocations involving chromosome 22.
www.brown.edu /Courses/BI0032/neurcrst/digeor.htm   (357 words)

 C1   (Site not responding. Last check: 2007-09-17)
Di George syndrome and related syndromes with microdeletion 22q11 is an important condition associated in 25% of conotruncal anomalies.
Di George phenotype was present in 6 out of 19 patients (31,6%) with Truncus Arteriosus type 1 or 2 and in 4 out of 5 (80,0%) with type 3.
Moreover, in the group with Di George phenotype we observed 3 patients (2 with Truncus Arteriosus type 3 and 1 with type 1) with severe malformation of the truncal valve consisting in stenosis in one case and insufficiency in 2.
www.sicped.it /sicp98/c1.htm   (306 words)

 DiGeorge Syndrome - Definition, Demographics, Causes and symptoms, Diagnosis, Treatment, Prognosis, Prevention, ...
The syndrome is marked by absence or underdevelopment of the thymus and parathyroid glands.
DiGeorge syndrome is also called congenital thymic hypoplasia, or third and fourth pharyngeal pouch syndrome, because the congenital abnormalities occur in areas known as the third and fourth pharyngeal pouches, which later develop into the thymus and parathyroid glands.
DiGeorge syndrome is caused either by inheritance of a defective chromosome 22 or by a new defect in chromosome 22 in the fetus.
www.healthofchildren.com /D/DiGeorge-Syndrome.html   (1871 words)

 22q11.2 Deletion
Patients with Di George syndrome have a collection of findings which include: a characteristic heart defect (interrupted aortic arch, truncus arteriosus, conoventricular septal defect, tetralogy of Fallot, etc.), problems with calcium, trouble with infection (due to abnormalities of the thymus gland), and occasionally a cleft palate.
He called this condition velocardiofacial syndrome (velo means palate or roof of the mouth, cardio stands for heart, and facial stands for the typical facial characteristics seen in their patients).
Since Dr. Driscoll's discovery that DiGeorge syndrome and VCFS are in fact the same diagnosis, other "syndromes" have been added to the list of diagnoses which have the 22q11.2 deletion as the underlying cause of the patients problems.
home.earthlink.net /~heinabilene/karyotypes/del22q.htm   (1905 words)

George, Duke of Clarence was the third son of Richard, Duke of York, and the brother of King Edward IV of England.
George was born on October 21, 1449 in Dublin, at a time when his father, having assumed the name Plantagenet to emphasize his descent from King Henry II of England, was beginning to challenge King Henry VI of England for the crown.
On the other hand, the tale of George and the Dragon is widely considered to share a common theme with the ancient myth of Princess Andromeda of Ethiopia and her savior and later husband Perseus, slayer of the gorgon Medusa and later founder of Mycenae.
www.websters-online-dictionary.com /GE/GEORGE.html   (11771 words)

 ARC of Dallas - Disability Glossary
Angelman's Syndrome is the result of missing genetic information on the maternal side of the 15th chromosome.
Di George Syndrome - a rare but often complex genetic abnormality caused by a deletion of chromosome 22 with prevalence estimated at 1:4000 live births.
Children with Williams Syndrome often share similar facial features such as: smaller sized heads, puffiness around the eyes, a small upturned nose, curly hair, full lips, small widely spaced teeth, a noticeable white starburst pattern in the iris and a small chin.
www.arcdallas.org /resource_glossary.htm   (2661 words)

 8 Years of Magic! Welcome to GrinKids.org
Rett syndrome is a childhood neurodevelopmental disorder characterized by normal early development followed by loss of purposeful use of the hands, distinctive hand movements, slowed brain and head growth, gait abnormalities, seizures, and mental retardation.
As the syndrome progresses, the child loses purposeful use of her hands and the ability to speak.
This syndrome is typified by conotruncal congenital heart disease, facial abnormalities and endocrine and immune disorders.
www.grinkids.org /kids/kids2.shtml   (1354 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.
Pathologically, DiGeorge Syndrome is characterized by absence or incomplete development of the thymus and parathyroids with varying degrees of T-cell immunodeficiency.
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.
www.midf.org /michigan_immunodeficiency_foundation_DiGeorge_Syndrome.htm   (898 words)

 Les cardiopathies cono-troncales   (Site not responding. Last check: 2007-09-17)
An association between DiGeorge's syndrome and an unbalanced chromosomal rearrangement leading to trisomy 20pter leads to 20q11 and monosomy 22pter leads to 22q11 was found in four individuals belongings to one family.
The observation that the Di George anomaly is a component manifestation of the velocardiofacial syndrome in these two families provides further evidence that the Di George anomaly is not a distinct syndrome of a single origin but rather a heterogeneous developmental field defect.
The conotruncal anomaly face syndrome was described in a Japanese publication in 1976 and comprises dysmorphic facial appearance and outflow tract defects of the heart.
www.bmlweb.org /catch22.html   (1551 words)

 Di-George's syndrome with multiple infections (an autopsy report). Sane SY - J Postgrad Med
Di-George's syndrome is a rare condition with congenital constellation of anatomic and functional failure of thymus.
A characteristic feature of the syndrome is marked variability in the expression manifested by range of clinical symptoms varying from minimal thymic deficiency with spontaneous acquisition of normal T cell function to such a severe involvement that B cell deficiency is also present.
Di George, A. M.: Congenital absence of thymus and its immunologic consequences: Concurrence with congenital hypoparathyroidism.
www.jpgmonline.com /article.asp?issn=0022-3859;year=1989;volume=35;issue=2;spage=114;epage=5;aulast=Sane   (788 words)

 The Gene Letter by GeneSage - Archives   (Site not responding. Last check: 2007-09-17)
DiGeorge syndrome is characterized by developmental defects of the thymus, parathyroids and cardiovascular system.
As a result, proliferation of circulating lymphocytes in response to mitogens was observed in four of the five patients, but in only two of them did immune reconstitution occur, as evidenced by circulating T cells of donor origin and normal response to tetanus toxoid.
Due to mixed results, the number of patients with Di George syndrome who may benefit from this therapy is uncertain.
www.genesage.com /professionals/geneletter/journalwatch/digeorge.html   (355 words)

 Catch 22: Recognition and otolaryngological implications of velocardiofacial syndrome Australian Journal of ...
It has been grouped with the Di George syndrome and conotruncal anomaly face syndrome under the acronym CATCH 22 (Wilson et al 1993, Wulfsberg et al 1996).
Whereas in Di George syndrome thymic hypoplasia with resultant infections is a primary feature, in VCFS the facial features, cardiovascular manifestations, developmental delay and palate anomalies are usually most prevalent.
We emphasise the need for the otolaryngologist to be aware of the often subtle phenotypic features of this syndrome, particularly velopharyngeal dysfunction, which may require early therapeutic intervention and which would be worsened by adenoidectomy.
www.findarticles.com /p/articles/mi_qa3868/is_199907/ai_n8861949   (826 words)

 Cardiovascular Disorders - DiGeorge Syndrome
Shprintzen named this group of features velo-cardio-facial syndrome, but the syndrome was also referred to as Shprintzen syndrome.
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.
As mentioned, 90 percent of patients with the features of this syndrome are missing a small part of their chromosome 22 at the q11 region.
www.schneiderchildrenshospital.org /peds_html_fixed/peds/cardiac/digeorge.htm   (1186 words)

Many of the anomalies associated with the syndrome are not apparent at birth, or even in early childhood, primarily because they are behavioural, or in some cases because they are ‘silent’ anomalies, meaning that they are not symptomatic.
In the case of ‘Di George’, the name was applied after Dr Angelo DiGeorge, an endocrinologist at St Christopher’s Hospital in Philadelphia at the time, described athymia (absence of the thymus gland) and hypoparathyroidism in several newborns.
The Di George sequence is found in a small percentage of babies with VCFS.
www.vcfs.com.au /Pages/faqs.htm   (1600 words)

 Global Web Studios - DiGeorge Syndrome   (Site not responding. Last check: 2007-09-17)
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.
Sometimes the syndrome won't be detected until later in infancy, especially when problems are mild.
www.gwslive.net /digeorge_syndrome   (516 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.
Because of significant overlap of both syndromes, some clinicians refer to this syndrome as 22q11 deletion syndrome.
Patients with clinical features suggestive of DiGeorge syndrome or VCFS may be tested for deletions of 10p13p14 and 22q11.2 simultaneously.
www.bcm.edu /geneticlabs/tests/cyto/digeorgevelocardiofacial.html   (444 words)

The most common forms of cardiovascular malformations in humans are a gamut of defects that involve the incomplete separation of the ventricles, atria, or atrial-ventricular (AV) canal.
Defects in the fetal looping of the straight cardiac tube (formation of a chambered heart during gestation) is linked to a congenital syndrome known as visceroatrial heterotaxy, where the symmetry of the heart is reversed.
Neural crest defects, defects involving CATCH-22 syndromes like Di-George syndrome and velo-cardio-facial syndrome, have been recently shown to be related to a small alteration at chromosome 22q11.
www.miamiheartresearch.org /LearningCenter/Genetics/Research.htm   (962 words)

 22Q11 DELETION SYNDROMES: Contact a Family - for families with disabled children: information on rare syndromes and ...
The deletion was first recognized in 1981 in Di George syndrome, affecting the heart, calcium and resistance to infection and occasionally the palate.
Velo-cardio-facial syndrome (VCFS) with disorders in structure and function of the palate, heart defect and a facial appearance with features similar to each other, also known as Shprintzen syndrome, was considered a quite separate condition until the genetic basis was found to be the same as Di George in 1988.
In this syndrome a tiny part is missing (deleted) from the long arm (q) of one of the two chromosomes 22's at position 11 on that chromosome.
www.cafamily.org.uk /Direct/22.html   (1722 words)

 Di-George syndrome presenting with hypocalcaemia in adulthood: two case reports and a review -- Kar et al. 58 (6): 655 ...
syndrome was not revealed until she was of postmenopausal age.
syndrome may still be missed in the presence of an aortic arch
The DiGeorge syndrome and the fetal alcohol syndrome.
jcp.bmj.com /cgi/content/full/58/6/655   (1419 words)

 Bambino Gesù
Summary/Objective : In 22q11.2 deletion syndrome a broad variability of immunological features and infection diseases has been described.
The cellular and humoral immune function in 12 patients with 22q11.2 deletion syndrome has been analyzed to evaluate the association between a particular immune defects and the occurence of recurrent infections.
In this context it is noteworthy the IgA and IgM defect and the decreased B cell memory subset never previously reported.
www.ospedalebambinogesu.it /portale/opbg.asp?IDItem=971   (271 words)

 di george syndrome information -- di george syndrome   (Site not responding. Last check: 2007-09-17)
di calciatori, partite di calcio, arbitri e tifoserie...
B cells, Hyper IgM syndromes, neutrophil disorders, cytokine receptor defects, Di George anomaly, Wiskott Aldrich syndrome, IPEX syndrome, new defects of innate immunity, and some as yet unknown cases...
Seruan Solidaritas : Gempa bumi di Jawa 75% of Academic...
www.syncsyndrome.info /digeorgesyndrome   (903 words)

 AHC DiGeorge
The world came crashing down the Tuesday after Memorial Day when the genetic counselor called me at work and told me the FISH study came back positive for DiGeorge Syndrome.
There are 180 different symptoms associated with DiGeorge Syndrome and she told us there was no way to know what end of the spectrum our child would be at.
Testing showed I am not a carrier for DiGeorge Syndrome, but until I am handed a healthy baby, I realize there are no guarantees.
www.aheartbreakingchoice.com /digeorgesyndrome1.html   (577 words)

 VCFS Educational Foundation, Main
The Foundation is an international not-for-profit organization dedicated to providing support and information to individuals who are affected by Velo-Cardio-Facial syndrome, their families, physicians and other practitioners.
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.
www.vcfsef.org   (182 words)

 eMedicine - DiGeorge Syndrome : Article by Iftikhar Hussain
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 [eye], heart anomaly, atresia [choanal], retardation [mental and growth], genital anomaly, ear anomaly) syndrome.
The constellation of defects is not a syndrome resulting from a single cause, but rather the failure of an embryological field to develop normally.
DiGeorge anomaly and velocardiofacial syndrome (VCFS) were recently found to be significantly associated with eczema and asthma but not with allergic rhinitis (Staple, 2005).
www.emedicine.com /med/topic567.htm   (5011 words)

 Society for Neuroscience | Hox Genes and Birth Defects   (Site not responding. Last check: 2007-09-17)
Research on mice, for example, has shown that changes in a specific hox gene results in defects in the head, heart and face that resemble Di George syndrome, a rare, inherited human disease.
Thus, the gene for Di George syndrome may interact with the hox gene in some way.
Scientists are exploring the functions of many hox genes and how their malfunction affects development.
www.sfn.org /index.cfm?pagename=brainBriefings_hoxGenesAndBirthDefects   (799 words)

 Honolulu Star-Bulletin Hawaii News
The Kaneohe youngster was born with a hole in his heart, a condition associated with an uncommon genetic condition known as Di-George Syndrome.
Di-George Syndrome, also known as Vela-Cardio-Facial Syndrome, can cause problems including a lowered ability to fight infection, hearing loss and hindered speech development.
Shirai said the speech problem may be due to his hearing loss but may also be a learning problem associated with the syndrome.
starbulletin.com /2001/06/18/news/story2.html   (725 words)

 22q11 - The Syndrome
Your child may have been diagnosed as having Velo-Cardio-Facial Syndrome, Di George Syndrome or Shprintzen Syndrome, depending upon where and by whom he/she was diagnosed.
In genetics the term syndrome means the association of multiple anomalies often present at birth which are caused by a single factor.
This is not a rare syndrome but until recently it has not been easily recognised.
www.cix.co.uk /~melcom/22q11/syndrome.htm   (1304 words)

 Project Inform's PI Perspective 23 [ HIV / AIDS Treatment Information ]
Despite failed transplants in the early 1980s, researchers are encouraged by new technology to preserve the tissue for transplantation.
Transplantation in children and adults with Di George’s syndrome, in which children are born without a thymus, appears to have been successful, adding more optimism for applying the technique to HIV.
The effects of thymus transplantation in Di George patients take at least 6 months to be apparent, indicating that it will be some months before differences may emerge between the groups.
www.projinf.org /pip/23/pip23h.html   (1938 words)

 Medical Genetics Institute - Laboratories
The laboratories of the Medical Genetics Institute use state-of-the-art equipment and the most up-to-date techniques available to diagnose and manage genetic disorders, dysmorphic syndromes, short stature and connective tissue diseases for newborns, children and adults.
This includes tests for blood karyotypes, fragile-X studies, chromosome breakage studies, amniocentesis, chorionic villus sampling, fibroblast cultures, bone marrow preparation and cancer cytogenetics.
Other services include culturing of amniotic fluid cells, chorionic villi, lymphocytes, and fibroblasts; chromosome analysis on prenatal samples, newborns, children, cancer patients and other individuals; and specialized testing for rare genetic disorders, including Fanconi's anemia, Bloom syndrome, ataxia telangectasia, di George syndrome, Velocardiofacial syndrome, Prader-Willi syndrome and Miller-Dieker lissencephaly.
www.csmc.edu /4029.html   (184 words)

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