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, Congenital
Velocardiofacial syndrome22q11.2Chromosome1981SticklerAnomaliesDeletionDuplicationsRobinowGenesSyndromicGeneticAutismFeaturesPatientsChildrenDetectConditionsSystemImageAuthorSignsTypeVelo-cardio-fVCFSMicrodeletion syndromeAnomalyThymusFamilialCardiofacial syndromeParathyroidChromosomalDiagnosisGeneMutations22q11.2 deletionOccursMalformationsAffectsSymptomsLive birthsDisordersFrequentCasesWidelyTreatmentHeartLossProblemsType
Velocardiofacial syndrome6
  • 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)
  • Velocardiofacial syndrome, also called Shprintzen syndrome or DiGeorge sequence, is one of the most common genetic disorders in humans. (researchgate.net)
  • Recognition of the features associated with velocardiofacial syndrome allows for an inclusive diagnosis and more comprehensive care. (researchgate.net)
  • Chromosome 22q11.2 deletion syndrome (22qDS) includes DGS and other similar syndromes, such as velocardiofacial syndrome. (medilib.ir)
  • 11- 15 The most common syndromes associated with RS include Stickler syndrome and velocardiofacial syndrome. (bmj.com)
  • The broad spectrum of clinical phenotypes that the syndrome encompasses was previously divided into distinct syndromes (for example DiGeorge syndrome, velocardiofacial syndrome, cardiofacial syndrome) but are now known to be identical and are referred to as 22q11.2 deletion sydrome. (cdc.gov)
22q11.210
  • 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)
  • 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)
  • 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)
  • See "DiGeorge (22q11.2 deletion) syndrome: Epidemiology and pathogenesis" and "DiGeorge (22q11.2 deletion) syndrome: Management and prognosis" . (medilib.ir)
  • Chromosome 22q11.2 microdeletion is associated with DiGeorge and Velocardiofacial syndromes (DG/VCF) and provides the most convincing evidence of an association between molecular cytogenetic abnormality and schizophrenia. (biomedcentral.com)
  • Recently, the reciprocal microduplication on 22q11.2 has been reported as a new syndrome. (biomedcentral.com)
  • The 22q11.2 microdeletion is responsible for the DiGeorge and Velocardiofacial Syndromes (DG/VCFS) (OMIM #188400 and #192430). (biomedcentral.com)
  • In most cases, the syndrome is due to a 3 million base pair (Mb) deletion on the chromosomal region 22q11.2 that is flanked by low copy number repeats. (cdc.gov)
  • Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. (nih.gov)
Chromosome3
  • Meta-analysis of genome scans for bipolar disorder and schizophrenia have also identified chromosome 22q11-13 as one of the strongest linkage regions for both syndromes [ 16 ]. (biomedcentral.com)
  • NIPT also offers optional testing for other genetic conditions such as deletion syndromes and sex chromosome aneuploidies. (healthchecks360.com)
  • The varied array of clefting syndromes - the failure of the lip or palate to fuse properly Cleft lip with or without cleft palate ( CL / P ) NIDCR grantees have mapped the gene for Van der Woude syndrome, the most common form of syndromic clefting, to a narrow band on chromosome 1. (ibis-birthdefects.org)
19811
  • 1981) reported on 39 patients with a syndrome characterized by the following frequent features: cleft palate, cardiac anomalies, typical facies, and learning disabilities. (ibis-birthdefects.org)
Stickler1
  • Vintiner et al reported a balanced translocation t(5;17)(q15;q23) in all affected individuals of a single family during screening for Stickler syndrome. (bmj.com)
Anomalies1
  • These syndromes are associated with variable phenotypic features that includes cardiac defects, palate anomalies, characteristic physiognomy, learning difficulties and relatively high frequency of severe mental illness like schizophrenia. (biomedcentral.com)
Deletion1
  • An online survey to understand the needs of caregivers of family members with 22q11 deletion syndrome. (22q.ca)
Duplications1
Robinow1
Genes1
  • Furthermore, the human genome is estimated to contain about 80,000 genes, so many rare syndromes may have yet to be defined. (medscape.com)
Syndromic1
  • b ) in association with other abnormalities that do not constitute a recognisable syndrome (non-syndromic), and ( c ) in a classical or isolated form not associated with any other significant findings. (bmj.com)
Genetic2
  • 15, 16 While the underlying genetic factors in a number of the syndromes that include RS have been delineated, 17- 19 the genetic basis for isolated RS remains unclear. (bmj.com)
  • Non-invasive prenatal testing (NIPT) is a way of examining fetal DNA by taking a sample of blood from a pregnant woman to determine the baby's risk for a number of genetic disorders, including Down's syndrome. (healthchecks360.com)
Autism1
  • Autism spectrum disorders (ASDs) are pervasive developmental disorders that include autism, Asperger syndrome, and pervasive developmental disorder-not otherwise specified (PDD-NOS). (biomedcentral.com)
Features2
  • The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. (wikipedia.org)
  • A majority of his features were suggestive of Joubert syndrome--although it was felt that he did not fully meet diagnostic criteria. (researchgate.net)
Patients1
Children1
Detect3
  • This special test is a screening test used to detect the risk of Down's syndrome in an unborn baby. (healthchecks360.com)
  • NIPT is highly sensitive and is able to detect more than 99% of cases of Down's syndrome. (healthchecks360.com)
  • The test is primarily used to detect aneuploidies - where an abnormal number of chromosomes is present in each cell - specifically the trisomies that cause Down's(21), Edwards'(18) and Patau's(13) syndromes. (healthchecks360.com)
Conditions1
  • The following classification of otolaryngological syndromes and conditions is based on system involvement. (medscape.com)
System1
  • INTRODUCTION - DiGeorge syndrome (DGS) is a constellation of signs and symptoms associated with defective development of the pharyngeal pouch system. (medilib.ir)
Image1
  • Hand of a patient (different patient than in the image above) with Apert syndrome showing syndactyly (soft tissue). (medscape.com)
Author1
  • The late David Smith, MD, a superb dysmorphologist and the original author of the illustrated guide to syndromes entitled Recognizable Patterns of Human Malformation (WB Saunders, Philadelphia), coined the term dysmorphology. (medscape.com)
Signs1
  • Cognitive impairment, problems with thinking and learning, short attention span, Impulsive behavior, delayed language and speech development are other signs seen in Down's syndrome. (healthchecks360.com)
Type3
  • Note disproportionately short stature with mesomelic shortening and deformities of forearms and legs (in mesomelic dysplasia) and short forearms with Madelung-type deformity (in Leri-Weill syndrome). (medscape.com)
  • Infant with Beemer-type (left) and an infant with Majewski-type (right) short-rib syndrome (SRS). (medscape.com)
  • Child with Hurler syndrome (mucopolysaccharidosis type IH). (medscape.com)
Velo-cardio-f1
VCFS1
  • VCFS affects at least one in 2,000-7,000 live births, making it the most common microdeletion syndrome and the second most common chromosomal defect. (sagepub.com)
Microdeletion syndrome12
  • Deletion 22q11.2 syndrome is the most frequent known microdeletion syndrome and is associated with a highly variable phenotype, including DiGeorge and Shprintzen (velocardiofacial) syndromes. (nih.gov)
  • The 22q11 microdeletion syndrome summarizes chromosomal anomalies that affect the long arm of chromosome 22 in gene locus 22q11 and manifest themselves in the form of malformation syndromes. (dictionaryforall.com)
  • What is 22q11 microdeletion syndrome? (dictionaryforall.com)
  • See AbbreviationFinder for abbreviations related to 22q11 Microdeletion Syndrome. (dictionaryforall.com)
  • One of them is the so-called 22q11 microdeletion syndrome. (dictionaryforall.com)
  • The designation of the syndromes as CATCH-22 syndrome is just as common as the expression of the microdeletion syndrome 22q11. (dictionaryforall.com)
  • However, diseases from the group of microdeletion syndrome 22q11 are generally characterized by symptomatic diversity. (dictionaryforall.com)
  • Since the term 22q11 microdeletion syndrome is a collective term for various deletion syndromes, not all of the symptoms described may occur in individual cases. (dictionaryforall.com)
  • All 22q11 microdeletion syndrome disorders have a partly hereditary basis, although new mutations can also occur. (dictionaryforall.com)
  • In addition, hypertelorism with an antimongoloid lid axis may suggest microdeletion syndrome. (dictionaryforall.com)
  • The first suspected diagnosis of a 22q11 microdeletion syndrome can be made on the basis of the combined occurrence of characteristic malformations. (dictionaryforall.com)
  • As a rule, those affected by the 22q11 microdeletion syndrome suffer from various malformations and malformations, which can significantly restrict and reduce their quality of life. (dictionaryforall.com)
Anomaly1
  • Conotruncal anomaly (cyanotic heart pathology) and interrupted aortic arch type B are seen in deletion 22q11.2 syndrome. (czytelniamedyczna.pl)
Thymus1
  • Congenital syndrome characterized by a wide spectrum of characteristics including the absence of the THYMUS and PARATHYROID GLANDS resulting in T-cell immunodeficiency, HYPOCALCEMIA , defects in the outflow tract of the heart, and craniofacial anomalies. (nih.gov)
Familial1
  • We report a novel heterozygous missense mutation, H194Q, in a familial case of Shprintzen syndrome and show that this and the two previously reported missense mutations result in gain of function, possibly through stabilization of the protein dimer DNA complex. (nih.gov)
Cardiofacial syndrome1
  • 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. (beds.ac.uk)
Parathyroid2
  • DiGeorge syndrome may be first spotted when an affected newborn has heart defects or convulsions from hypocalcemia due to malfunctioning parathyroid glands and low levels of parathyroid hormone (parathormone). (wikipedia.org)
  • DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. (beds.ac.uk)
Chromosomal2
  • There are different clinical pictures and syndromes that are based on chromosomal aberrations. (dictionaryforall.com)
  • In most cases, the syndrome is due to a 3 million base pair (Mb) deletion on the chromosomal region 22q11.2 that is flanked by low copy number repeats. (cdc.gov)
Diagnosis4
  • Physical examination helps in the diagnosis of specific epileptic syndromes that cause abnormal findings, such as dermatologic abnormalities (eg, patients with intractable generalized tonic-clonic seizures for years are likely to have injuries requiring stitches). (medscape.com)
  • Video-EEG monitoring is the standard test for classifying the type of seizure or syndrome or to diagnose pseudoseizures (ie, to establish a definitive diagnosis of spells with impairment of consciousness). (medscape.com)
  • Selection of an anticonvulsant medication depends on an accurate diagnosis of the epileptic syndrome. (medscape.com)
  • The floating harbor syndrome must be differentiated in the differential diagnosis. (dictionaryforall.com)
Gene2
  • Although haploinsufficiency of the T-box transcription factor gene TBX1 is thought to cause the phenotype, to date, only four different point mutations in TBX1 have been reported in association with six of the major features of 22q11.2 deletion syndrome. (nih.gov)
  • Due to microdeletions in gene locus 22q11, the patients of the syndromes suffer from more or less pronounced heart defects such as the ventricular septal defect. (dictionaryforall.com)
Mutations1
  • It is also possible that mutations in the HIRA / TUPLE1 and UFD1L genes are contributing to Di George's syndrome, but there are currently insufficient studies to conclusively confirm this. (health-alphabet.com)
22q11.2 deletion5
  • 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)
  • Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. (beds.ac.uk)
  • Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, different groupings of features were once described as separate conditions. (beds.ac.uk)
  • The main cause of Di George syndrome is a 22q11.2 deletion or microdeletion. (health-alphabet.com)
Occurs1
Malformations2
Affects1
Symptoms1
Live births1
  • According to the European Registry of Birth Defects, the incidence of Di George's syndrome is 1: 9,700 live births. (health-alphabet.com)
Disorders1
  • Di George's syndrome can cause not only many disorders, disabilities, and serious physical and mental he alth problems, but also miscarriages, death of infants and shorter life in adults. (health-alphabet.com)
Frequent2
Cases1
Widely1
  • The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. (wikipedia.org)
Treatment1
  • This technique is also used to characterize the type of seizure and epileptic syndrome to optimize pharmacologic treatment and for presurgical workup. (medscape.com)
Heart1
  • Left to right shunt pathology, which lead to the heart failure and pulmonary hypertension, are typical for Down syndrome. (czytelniamedyczna.pl)
Loss1
Problems1
  • Cognitive impairment, problems with thinking and learning, short attention span, Impulsive behavior, delayed language and speech development are other signs seen in Down's syndrome. (healthchecks360.com)
Type1
  • Authors discuss the type of cardiovascular pathologies in Down, Turner, Noonan, Williams and deletion 22q11.2 syndromes. (czytelniamedyczna.pl)