AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and Processes
DiGeorge SyndromeChromosomes, Human, Pair 22SyndromeCardiovascular AbnormalitiesT-Box Domain ProteinsAbnormalities, MultipleChromosome DeletionTruncus Arteriosus, PersistentBranchial RegionHistone ChaperonesHypocalcemiaHypoparathyroidismIn Situ Hybridization, FluorescenceHeart Defects, CongenitalImmunologic Deficiency SyndromesMonosomyThymus GlandParathyroid GlandsGene DeletionNeural CrestPhenotypeChromosome MappingTranslocation, GeneticAorta, Thoracic
VelocardiofacialVelo-cardio-fThymus22q11.2 deletionMicrodeletionAngelo DiGeorgeImmunodeficiency syndromesDisorderGenes22q11 deletionDiagnosisPrader-WilliAnomalyCaylerMental retardationChromosome 22Genetic deletionDisordersSeveritySymptoms4,000 peopleFluorescenceDeletion syndromeThymicDevelopmentalDeletionsHypocalcemiaCommonlyFacialFeatures of this syndromePatientsHeart
Velocardiofacial7
  • DiGeorge syndrome (DGS) is one of a group of phenotypically similar disorders-including velocardiofacial syndrome (VCFS, or Shprintzen syndrome) and conotruncal anomaly face (CTAF) syndrome-that share a microdeletion of chromosome 22q11.2, a region known as the DGS critical region (see the image below). (medscape.com)
  • A region of homozygosity within 22q11.2 associated with congenital heart disease: recessive DiGeorge/velocardiofacial syndrome? (bmj.com)
  • E ditor -DiGeorge syndrome (DGS, MIM 18840) and velocardiofacial syndrome (VCFS, MIM 192430) are associated with interstitial deletions of chromosome 22q11.2 and are considered to be phenotypic variations of the same underlying genetic defect. (bmj.com)
  • Chromosome 22q11.2 deletion syndrome (22qDS) includes DGS and other similar syndromes, such as velocardiofacial syndrome. (medilib.ir)
  • 22q11.2 deletion syndrome, formerly known as DiGeorge or velocardiofacial syndrome, is a multisystem disorder with variable severity and number of associated features, classically including developmental delay, learning difficulties, congenital cardiac anomalies, palatal abnormalities, especially velopharyngeal insufficiency, hypocalcemia, and subtle facial dysmorphism. (unboundmedicine.com)
  • Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome. (medlineplus.gov)
  • It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (harvard.edu)
Velo-cardio-f3
Thymus3
  • Accordingly, I urge all DiGeorge researchers, "DiGeorge families", and the entire medical community to respect and honor the remarkable man who first described the syndrome and who discovered the role of the thymus gland in human function by continuing to call it what it is, DiGeorge Syndrome. (scienceblogs.com)
  • Children with DiGeorge syndrome are born with several abnormalities, including heart defects, underdeveloped or absent parathyroid glands, an underdeveloped or absent thymus gland, and characteristic facial features. (msdmanuals.com)
  • The syndrome is marked by absence or underdevelopment of the thymus and parathyroid glands. (healthofchildren.com)
22q11.2 deletion39
  • DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. (wikipedia.org)
  • All these syndromes, because of their overlapping features, are now designated as a 22q11.2 deletion syndrome (22q11.2DS) and in the rest of the article will be referred to as 22q11.2DS. (medscape.com)
  • Mother and children with 22q11.2 deletion syndrome. (medscape.com)
  • 22q11.2 deletion syndrome has a prevalence of 1 in 2,000 -that is thought to be an underestimate due to the lack of syndrome familiarity and recognition by doctors, and the wide variability of symptoms. (medicover-genetics.com)
  • It is the second most common genetic disorder after Down syndrome, the most common cause of cleft lip and palate, and the second most common cause of developmental delays and heart defects - 1 in 68 children born with a cardiovascular abnormality are diagnosed with a 22q11.2 deletion. (medicover-genetics.com)
  • See "DiGeorge (22q11.2 deletion) syndrome: Epidemiology and pathogenesis" and "DiGeorge (22q11.2 deletion) syndrome: Management and prognosis" . (medilib.ir)
  • Cytogenetic studies of a male child carrying the 22q11.2 deletion common in patients with velo-cardio-facial/DiGeorge syndrome showed an unexpected rearrangement of the 22q11.2 region in his normal appearing mother. (elsevierpure.com)
  • 22q11.2 deletion syndrome has many possible signs and symptoms that can affect almost any part of the body. (medlineplus.gov)
  • People with 22q11.2 deletion syndrome commonly have heart abnormalities that are often present from birth, recurrent infections caused by problems with the immune system, and distinctive facial features. (medlineplus.gov)
  • Many children with 22q11.2 deletion syndrome have developmental delays, including delayed growth and speech development, and some have mild intellectual disability or learning disabilities. (medlineplus.gov)
  • Additionally, affected children are more likely than children without 22q11.2 deletion syndrome to have attention-deficit/hyperactivity disorder (ADHD) and developmental conditions such as autism spectrum disorder that affect communication and social interaction. (medlineplus.gov)
  • Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, different groupings of features were once described as separate conditions. (medlineplus.gov)
  • In addition, some children with the 22q11.2 deletion were diagnosed with the autosomal dominant form of Opitz G/BBB syndrome and Cayler cardiofacial syndrome. (medlineplus.gov)
  • To avoid confusion, this condition is usually called 22q11.2 deletion syndrome, a description based on its underlying genetic cause. (medlineplus.gov)
  • 22q11.2 deletion syndrome affects an estimated 1 in 4,000 people. (medlineplus.gov)
  • Researchers are working to identify all of the genes that contribute to the features of 22q11.2 deletion syndrome. (medlineplus.gov)
  • Chromosome 22q11.2 deletion syndrome is a neurogenetic disorder associated with high rates of schizophrenia and other psychiatric conditions. (nih.gov)
  • The authors report what is to their knowledge the first large-scale collaborative study of rates and sex distributions of psychiatric disorders from childhood to adulthood in 22q11.2 deletion syndrome. (nih.gov)
  • The 1,402 participants with 22q11.2 deletion syndrome, ages 6-68 years, were assessed for psychiatric disorders with validated diagnostic instruments. (nih.gov)
  • To the authors' knowledge, this is the largest study of psychiatric morbidity in 22q11.2 deletion syndrome. (nih.gov)
  • These results highlight the need to monitor and reduce the long-term burden of psychopathology in 22q11.2 deletion syndrome. (nih.gov)
  • Signature MicroRNA expression patterns identified in humans with 22q11.2 deletion/DiGeorge syndrome. (bvsalud.org)
  • Patients with 22q11.2 deletion syndrome have heterogeneous clinical presentations including immunodeficiency, cardiac anomalies, and hypocalcemia . (bvsalud.org)
  • We characterized the microRNA expression patterns in the peripheral blood of patients with 22q11.2 deletion syndrome (n=31) compared to normal controls (n=22). (bvsalud.org)
  • 22q11.2 deletion syndrome cohort exhibited microRNA expression hyper-variability and group dysregulation. (bvsalud.org)
  • In summary, microRNA profiling of chromosome 22q11.2 deletion syndrome /DiGeorge patients revealed a signature microRNA expression pattern distinct from normal controls with clinical relevance . (bvsalud.org)
  • Bleeding Severity and Phenotype in 22q11.2 Deletion Syndrome-A Cross-Sectional Investigation. (harvard.edu)
  • Abnormalities in gray matter microstructure in young adults with 22q11.2 deletion syndrome. (harvard.edu)
  • Failed Progenitor Specification Underlies the Cardiopharyngeal Phenotypes in a Zebrafish Model of 22q11.2 Deletion Syndrome. (harvard.edu)
  • 22q11.2 deletion syndrome, also known commonly as DiGeorge syndrome, is a condition that varies greatly in severity among affected individuals (including family members). (childrensdayton.org)
  • how rare is 22q11.2 deletion syndrome? (childrensdayton.org)
  • are kids born with 22q11.2 deletion syndrome? (childrensdayton.org)
  • what is the life expectancy of someone with 22q11.2 deletion syndrome? (childrensdayton.org)
  • how do I know if my child will be born with 22q11.2 deletion syndrome? (childrensdayton.org)
  • After birth, if 22q11.2 deletion syndrome is suspected, tests such as CT, MRI, heart ultrasound and other testing may be ordered. (childrensdayton.org)
  • what are the genes responsible for 22q11.2 deletion syndrome? (childrensdayton.org)
  • how do you treat 22q11.2 deletion syndrome? (childrensdayton.org)
  • Patients with 22q11.2 Deletion Syndrome (22q11.2DS) have a 25-30% risk of developing schizophrenia, and also suffer frequent hearing loss. (biorxiv.org)
  • In the Df1 /+ mouse model of human 22q11.2 Deletion Syndrome, we find that hearing loss shapes measures that are considered schizophrenia-relevant endophenotypes, such as central auditory gain and auditory sensorimotor gating. (biorxiv.org)
Microdeletion3
  • DiGeorge syndrome represents a part of the highly variable clinical spectrum of microdeletion 22q11.2. (medicover-genetics.com)
  • Noninvasive prenatal testing (NIPT), also known as microdeletion tests, were first created to test for Down syndrome. (aboutlawsuits.com)
  • Doctors decide what to order and companies sell microdeletion testing as an option to add-on to the Down syndrome screening. (aboutlawsuits.com)
Angelo DiGeorge2
Immunodeficiency syndromes2
  • Objective: DiGeorge syndrome (DGS) belongs to the complex immunodeficiency syndromes. (amedi.sk)
  • Conclusions: DiGeorge syndrome belongs to the relatively frequent immunodeficiency syndromes. (amedi.sk)
Disorder9
  • Take, for instance, a common group of birth defects - forms of a disorder called DiGeorge syndrome. (scienceblogs.com)
  • Jasmine Jefferson was born with a disorder called DiGeorge syndrome that has caused her to be in strict quarantine since March 16th. (abc.com)
  • ABSTRACT Sanjad Sakati syndrome is a rare autosomal recessive disorder that has been described in Arabs. (who.int)
  • Sanjad Sakati syndrome or hypoparathyroidism-retardation-dysmorphism (HRD) is an autosomal recessive disorder that was first described in 1988 [1]. (who.int)
  • Dr. Mathews added that although the findings need to be replicated, clinicians should monitor pregnancies for these risk factors if either parent has Tourette syndrome or if there is a family history of the disorder. (medscape.com)
  • Tourette syndrome is a phenomenologically heterogeneous neuropsychiatric disorder comprising multiple motor and vocal tics that begin in early childhood and persist for at least a year. (medscape.com)
  • The primary outcome measures were diagnoses of Tourette syndrome and either Tourette syndrome or chronic tic disorder (grouped together as Tourette syndrome/chronic tic disorder) based on criteria from the Diagnostic and Statistical Manual of Mental Disorder, Fourth Edition, Text Revision (DSM-IV-TR) when the children were 13 or 14 years old, as well as tic-related information from maternal questionnaires. (medscape.com)
  • A total of 50 of the teens had Tourette syndrome, and 72 had chronic tic disorder. (medscape.com)
  • P = .002 for Tourette syndrome/chronic tic disorder). (medscape.com)
Genes4
  • DiGeorge syndrome is typically due to the deletion of 30 to 40 genes in the middle of chromosome 22 at a location known as 22q11.2. (wikipedia.org)
  • This condition is described as a contiguous gene deletion syndrome because it results from the loss of many genes that are close together. (medlineplus.gov)
  • The syndrome arises from hemizygous deletions of up to 3Mb on chromosome 22q11.2, a region that contains 60 genes and 4 microRNAs . (bvsalud.org)
  • El síndrome DiGeorge es causado por la supresión de varios genes del cromosoma 22. (epnet.com)
22q11 deletion4
  • 22q11 Deletion Syndrome" is a descriptor in the National Library of Medicine's controlled vocabulary thesaurus, MeSH (Medical Subject Headings) . (harvard.edu)
  • This graph shows the total number of publications written about "22q11 Deletion Syndrome" by people in Harvard Catalyst Profiles by year, and whether "22q11 Deletion Syndrome" was a major or minor topic of these publication. (harvard.edu)
  • Below are the most recent publications written about "22q11 Deletion Syndrome" by people in Profiles. (harvard.edu)
  • Frontal Hypoactivation During a Working Memory Task in Children With 22q11 Deletion Syndrome. (harvard.edu)
Diagnosis1
  • The availability of genetic testing enables accurate diagnosis of affected children, discovery of carriers and prospective counselling as well as prenatal diagnosis of Sanjad Sakati syndrome in high-risk families. (who.int)
Prader-Willi1
  • Prader-Willi and Angelman syndromes can cause seizures and inability to control food consumption and offer a child little chance of living independently as an adult. (aboutlawsuits.com)
Anomaly1
  • DiGeorge anomaly is part of a rare congenital abnormality that is the result of defects during early fetal developmental. (lu.se)
Cayler1
Mental retardation1
Chromosome 223
  • Around one in 4000 is born with this syndrome, which arises from a deletion of a short segment of chromosome 22. (scienceblogs.com)
  • The small deletion on the long arm (q) of chromosome 22 causes a syndrome with a diverse collection of symptoms. (medicover-genetics.com)
  • DiGeorge syndrome is a rare congenital disease that affects an infant's immune system and that is due to a large deletion from chromosome 22. (healthofchildren.com)
Genetic deletion1
  • I enjoy following the tremendous research being done all over the world in connection with DiGeorge Syndrome, which is by all accounts the most common chromosomal genetic deletion syndrome. (scienceblogs.com)
Disorders4
  • When the genetic basis of 22q11.2 syndrome was identified, it was discovered that several other conditions thought to be different disorders were all in fact part of the same condition. (medicover-genetics.com)
  • Medical problems commonly associated with DiGeorge syndrome include heart defects, poor immune system function, a cleft palate, complications related to low levels of calcium in the blood and behavioral disorders. (weheal.org)
  • Once the genetic basis for these disorders was identified, doctors determined that they were all part of a single syndrome with many possible signs and symptoms. (medlineplus.gov)
  • Inadequate maternal weight gain, cannabis use during pregnancy, and birth order have been identified as 3 new potential risk factors for Tourette syndrome and chronic tic disorders in children, new research shows. (medscape.com)
Severity1
  • The number and severity of problems associated with DiGeorge syndrome vary greatly. (weheal.org)
Symptoms2
  • The reason for this is that the symptoms of DiGeorge syndrome vary considerably. (scienceblogs.com)
  • INTRODUCTION - DiGeorge syndrome (DGS) is a constellation of signs and symptoms associated with defective development of the pharyngeal pouch system. (medilib.ir)
4,000 people1
Fluorescence1
  • In attempting to refine the shortest region of overlap for these syndromes we have employed fluorescence in situ hybridisation. (ox.ac.uk)
Deletion syndrome2
  • I am also pleased that you correctly refer to it as "DiGeorge Syndrome" rather than as 22 q 11 deletion syndrome or by one of its many other monikers. (scienceblogs.com)
  • Available at: http://www.stanfordchildrens.org/en/topic/default?id=22q112-deletion-syndrome-90-P01682. (epnet.com)
Thymic1
  • Chandran M, Deftos LJ, Stuenkel CA, Haghighi P, Orloff LA. Thymic parathyroid carcinoma and postoperative hungry bone syndrome. (medscape.com)
Developmental1
  • In addition, variable developmental problems and schizoid features are also associated with this syndrome. (harvard.edu)
Deletions1
  • 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. (harvard.edu)
Hypocalcemia1
Commonly1
Facial1
  • They found that knockouts of specific transcription factors that were not previously linked to Digeorge were tied to distinctive combinations of facial muscle and cardiac defects resemble the congenital defects in babies. (scienceblogs.com)
Features of this syndrome2
  • The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. (wikipedia.org)
  • However, due to the variable features of this syndrome, it is often underdiagnosed and researchers estimate it occurs more frequently. (childrensdayton.org)
Patients1
  • This case series reports 8 patients with Sanjad Sakati syndrome from 7 families in Jordan, 6 of whom had genetic testing. (who.int)
Heart3
  • And yes, they revealed that, at least for those with DiGeorge syndrome, a face can tell something about the heart. (scienceblogs.com)
  • Available at: http://www.heart.org/HEARTORG/Conditions/CongenitalHeartDefects/DiGeorge-Syndrome_UCM_309017_Article.jsp. (epnet.com)
  • For example, DiGeorge syndrome can cause heart defects. (aboutlawsuits.com)