AnatomyDiseasesChemicals and DrugsAnalytical, Diagnostic and Therapeutic Techniques and EquipmentPhenomena and ProcessesInformation Science
DiGeorge SyndromeChromosomes, Human, Pair 22Velopharyngeal InsufficiencySyndromeAbnormalities, MultipleChromosome DeletionFaciesCleft PalateGoosecoid ProteinHeart Defects, CongenitalIn Situ Hybridization, FluorescenceFaceGene DeletionCardiovascular AbnormalitiesT-Box Domain ProteinsCraniofacial AbnormalitiesTruncus Arteriosus, PersistentBranchial RegionMedlinePlus22q11 Deletion Syndrome
VCFSDeletionsMicrodeletion syndromeShprintzenVelo-cardio-f22q11.2 deletionHypoparathyroidismHypocalcemiaAngelo DiGeorgePhenotypesGenetic syndromesGeneDeletion of chromosomeTranslocationDefectsDevelopmentalRing chromosome 22AbnormalitiesDefectAnomaly faceSymptomsPsychiatricFacialRegionChromosomalIncidenceOccurs when an individualCognitivePhenotypePhenotypicCommonlyPatientsCardiovascular
VCFS7
  • 22q11 deletion syndrome (22qDS), also known as DiGeorge or velocardiofacial syndrome (DGS/VCFS), is a relatively common genetic anomaly that results in malformations of the heart, face and limbs. (nih.gov)
  • 2. Breakpoint Associated with a novel 2.3 Mb deletion in the VCFS region of 22q11 and the role of Alu (SINE) in recurring microdeletions. (nih.gov)
  • 17. Dual-probe fluorescence in situ hybridization assay for detecting deletions associated with VCFS/DiGeorge syndrome I and DiGeorge syndrome II loci. (nih.gov)
  • The term velocardiofacial syndrome (VCFS) refers to a complex, pervasive genetic disorder that results from a microdeletion of a part of chromosome 22 (i.e., submicroscopic hemizygous deletion at chromosome 22q11.2, first described in 1978). (sagepub.com)
  • 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)
  • The Virtual Center for Velo-Cardio-Facial Syndrome, Inc. is an open-access 501(c)3, internet-based charitable organization that provides personalized information to people whose lives have been touched by VCFS and who are seeking applicable research and clinical expertise regarding the management of the syndrome. (myriad.com)
  • 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)
Deletions8
  • For example, patients with different genomic deletions within the 22q11 region have been found that have similar phenotypes, even though their deletions do not compromise the same set of genes. (nih.gov)
  • A genetic etiology for DiGeorge syndrome: consistent deletions and microdeletions of 22q11. (upenn.edu)
  • Deletions and microdeletions of 22q11.2 in velo-cardio-facial syndrome. (upenn.edu)
  • Frequency of 22q11 deletions in patients with conotruncal defects. (upenn.edu)
  • 3. 22q11.21 Deletion Syndromes: A Review of Proximal, Central, and Distal Deletions and Their Associated Features. (nih.gov)
  • In these infants with complete nerve facial palsy, an investigation for chromosome 22q11 deletions is recommended. (medscape.com)
  • 2009 Feb 25;10:16) Not all deletions at 22q11 result in the 22q11deletion syndrome. (nih.gov)
  • Interestingly an identical phenotype could be connected with maternal diabetes3 4 maternal retinoic acidity publicity5 single-gene disorders because of mutations in chromo-domain helicase DNA-binding proteins 7 (hybridization (Seafood) research using probes inside the frequently deleted region determined submicroscopic 22q11.2 deletions as the utmost frequent reason behind DiGeorge symptoms14 15 (FIG. 1). (brain-tumor-cancer-information.com)
Microdeletion syndrome4
  • DiGeorge syndrome and velocardiofacial syndrome are variants of the chromosome arm 22q11 microdeletion syndrome. (medscape.com)
  • 9. [Clinical heterogeneity of the chromosome 22q11 microdeletion syndrome]. (nih.gov)
  • 10. [Study on clinical features and fluorescence in situ hybridization detections of 22q11 microdeletion syndrome]. (nih.gov)
  • Epidemiology 22 is usually common and is the most frequent chromosomal microdeletion syndrome. (brain-tumor-cancer-information.com)
Shprintzen1
Velo-cardio-f1
  • Velo-cardio-facial syndrome: Intra-familial variability of the phenotype. (upenn.edu)
22q11.2 deletion36
  • The loss of one particular gene, TBX1, is thought to be responsible for many of the characteristic features of 22q11.2 deletion syndrome, such as heart defects, an opening in the roof of the mouth (a cleft palate), distinctive facial features, and low calcium levels. (wikipedia.org)
  • Other genes in the deleted region are also likely to contribute to the signs and symptoms of 22q11.2 deletion syndrome. (wikipedia.org)
  • 22q11.2 deletion syndrome is a disorder involving heart defects, an opening in the roof of the mouth (a cleft palate), distinctive facial features, low calcium levels, and an increased risk of behavioral problems and mental illness such as schizophrenia (described below). (medlineplus.gov)
  • Most people with 22q11.2 deletion syndrome are missing about 3 million base pairs on one copy of chromosome 22 in each cell. (medlineplus.gov)
  • The loss of a particular gene, TBX1 , is thought to be responsible for many of the physical features characteristic of 22q11.2 deletion syndrome. (medlineplus.gov)
  • This sequence is the same one that is missing in 22q11.2 deletion syndrome (described above). (medlineplus.gov)
  • 1. Atypical presentations of 22q11.2 deletion syndrome: explaining the genetic defects and genome architecture. (nih.gov)
  • 4. High-Resolution genomic arrays identify CNVs that phenocopy the chromosome 22q11.2 deletion syndrome. (nih.gov)
  • 5. Copy number variations and risk for schizophrenia in 22q11.2 deletion syndrome. (nih.gov)
  • 13. Refining the 22q11.2 deletion breakpoints in DiGeorge syndrome by aCGH. (nih.gov)
  • 14. [Genetic and clinical characteristics of 22q11.2 deletion syndrome]. (nih.gov)
  • 19. Patient with a 22q11.2 deletion with no overlap of the minimal DiGeorge syndrome critical region (MDGCR). (nih.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)
  • 22q11.2 deletion syndrome, also called DiGeorge syndrome, velocardiofacial syndrome, or conotruncal anomaly face syndrome, is a disorder that occurs when an individual is missing a portion of chromosome 22. (myriad.com)
  • Many different symptoms can occur with 22q11.2 deletion syndrome, and most individuals have some but not all of the symptoms. (myriad.com)
  • Learning difficulties, attention deficit hyperactivity disorder (ADHD), and autism spectrum disorders are more common in people with 22q11.2 deletion syndrome. (myriad.com)
  • The types of symptoms experienced can differ significantly even between family members with 22q11.2 deletion syndrome. (myriad.com)
  • How common is 22q11.2 Deletion Syndrome? (myriad.com)
  • The incidence of 22q11.2 deletion syndrome in the population is 1 in 2,000 to 1 in 7,000 births. (myriad.com)
  • Parents of a child with 22q11.2 deletion syndrome may wish to have themselves tested to determine their chances of having other children with the condition. (myriad.com)
  • How is 22q11.2 Deletion Syndrome treated? (myriad.com)
  • There is no cure for 22q11.2 deletion syndrome, and treatment depends on the needs of the child. (myriad.com)
  • Children with 22q11.2 deletion syndrome may need to be seen by a variety of specialties, including cardiology, audiology, endocrinology, neurology, orthopedics, and developmental and speech therapy. (myriad.com)
  • What is the prognosis for a person with 22q11.2 Deletion Syndrome? (myriad.com)
  • The prognosis for individuals with 22q11.2 deletion syndrome depends on the symptoms that are present. (myriad.com)
  • This Cangrelor (AR-C69931) preceded reputation that several apparently unrelated circumstances with overlapping phenotypic features likewise resulted from a 22q11.2 deletion including: velocardiofacial symptoms15 conotruncal anomaly encounter symptoms16 17 and subsets of individuals with Opitz G/BBB18 and Cayler cardiofacial19 syndromes20. (brain-tumor-cancer-information.com)
  • Furthermore as a consequence of mechanistic understanding the term DiGeorge syndrome is now reserved for Cangrelor (AR-C69931) those Cangrelor (AR-C69931) rare patients who share clinical symptoms with 22q11.2DS but do not harbour a 22q11.2 deletion. (brain-tumor-cancer-information.com)
  • 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)
  • Simon, Tony 2007-10-23 00:00:00 Background: Previous investigations of individuals with chromosome 22q11.2 deletion syndrome (DS22q11.2) have reported alterations in both brain anatomy and cognitive function. (sagepub.com)
  • Page 1 of 9 (page number not for citation purposes) Behavioral and Brain Functions 2007, 3:54 http://www.behavioralandbrainfunctions.com/content/3/1/54 tions emerging in the presence of marked psychopathol- Background Chromosome 22q11.2 deletion syndrome (DS22q11.2) ogy [18,23]. (sagepub.com)
  • 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)
  • 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)
  • To avoid confusion, this condition is usually called 22q11.2 deletion syndrome, a description based on its underlying genetic cause. (beds.ac.uk)
  • DiGeorge Syndrome which is also known as chromosome 22q11.2 deletion syndrome is a primary immunodeficiency caused by the deletion of chromosome 22. (acquaintpublications.com)
  • Hence, DGS is also known as chromosome 22q11.2 deletion syndrome. (acquaintpublications.com)
Hypoparathyroidism4
  • DiGeorge syndrome (ie, hypoparathyroidism, absence of thymus gland [T-cell abnormalities], cardiac anomalies) is associated with abnormal development of the third and fourth pharyngeal pouches from which the parathyroids derive embryologically and represents an example of a defect in parathyroid gland development. (medscape.com)
  • The eponymous explanation of DiGeorge symptoms - from the past due Dr Angelo DiGeorge in 1965 - included babies with lack of the thymus (thymic aplasia) and parathyroid glands (hypoparathyroidism)1. (brain-tumor-cancer-information.com)
  • Nephrosis Nerve Deafness Hypoparathyroidism Syndrome. (mhmedical.com)
  • DiGeorge Syndrome DiGeorge syndrome is thymic and parathyroid hypoplasia or aplasia leading to T-cell immunodeficiency and hypoparathyroidism. (msdmanuals.com)
Hypocalcemia2
  • Hypocalcemia associated with a 22q11 microdeletion may be transiently present in infancy but recur later in life, particularly during periods of stress. (medscape.com)
  • DiGeorge syndrome (DGS) comprises hypocalcemia arising from parathyroid hypoplasia, thymic hypoplasia, and outflow tract defects of the heart. (beds.ac.uk)
Angelo DiGeorge1
  • DiGeorge Syndrome (DGS), as described in 1968 by Angelo DiGeorge is a primary immunodeficiency caused by abnormal development of 3rd and 4th pharyngeal pouches in the embryonic state [4] . (acquaintpublications.com)
Phenotypes4
  • Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. (nih.gov)
  • HN - 2011 MH - 22q11 Deletion Syndrome UI - D058165 MN - C5.660.207.103 MN - C14.240.400.21 MN - C14.280.400.44 MN - C15.604.451.249 MN - C16.131.77.19 MN - C16.131.240.400.21 MN - C16.131.260.19 MN - C16.131.482.249 MN - C16.131.621.207.103 MN - C16.320.180.19 MN - C19.642.482.500 MS - Condition with a variable constellation of phenotypes due to deletion polymorphisms at chromosome location 22q11. (nih.gov)
  • conditions such as for example palatal gastrointestinal and renal abnormalities autoimmune disease adjustable cognitive delays behavioural phenotypes and psychiatric disease - all significantly extending the initial explanation of DiGeorge symptoms. (brain-tumor-cancer-information.com)
  • In many cases, specific genes that contribute to the phenotypes of cytogenetic syndromes are being pinpointed. (basicmedicalkey.com)
Genetic syndromes3
  • Genetically inherited forms arise from defects of parathyroid gland development, defects in the parathyroid hormone (PTH) gene, defects in the calcium-sensing receptor gene, defects in PTH action, defects in the autoimmune regulator gene, and genetic syndromes. (medscape.com)
  • Genetic syndromes, parathyroid hormone gene mutations, autoimmune polyglandular syndrome, activating mutations of calcium-sensitive receptors (CaSRs), trauma or surgery-related parathyroid gland damage, and hypomagnesemia are associated with low parathyroid hormone level, whereas nutritional vitamin D and calcium deficiency, vitamin D metabolism disorders, and PHP are associated with high parathyroid hormone level [ 2 - 9 ]. (e-apem.org)
  • About 15-30% of congenital heart malformations are the part of genetic syndromes. (czytelniamedyczna.pl)
Gene2
  • The loss of a particular gene, SHANK3 , is thought to be responsible for many of the characteristic features of 22q13.3 deletion syndrome, such as developmental delay, intellectual disability, and absent or severely delayed speech. (medlineplus.gov)
  • This gene is mapped to 22q11, the region frequently deleted in DiGeorge and velocardiofacial syndromes. (nih.gov)
Deletion of chromosome1
Translocation1
Defects2
  • The extra genetic material causes the characteristic signs and symptoms of cat-eye syndrome, including an eye abnormality called ocular iris coloboma (a gap or split in the colored part of the eye), small skin tags or pits in front of the ear, heart defects, kidney problems, and, in some cases, delayed development. (wikipedia.org)
  • DiGeorge anomaly is part of a rare congenital abnormality that is the result of defects during early fetal developmental. (lu.se)
Developmental1
  • In addition, variable developmental problems and schizoid features are also associated with this syndrome. (nih.gov)
Ring chromosome 221
Abnormalities2
  • 22q11.2 distal deletion syndrome 22q13 deletion syndrome Other chromosomal conditions: Other changes in the number or structure of chromosome 22 can have a variety of effects, including intellectual disability, delayed development, physical abnormalities, and other medical problems. (wikipedia.org)
  • It encompasses several syndromes with overlapping abnormalities including the DIGEORGE SYNDROME, VELOCARDIOFACIAL SYNDROME, and CONOTRUNCAL AMOMALY FACE SYNDROME. (nih.gov)
Defect1
Anomaly face1
  • Otherwise the broad phenotypic range of symptoms - including findings formerly associated with DiGeorge syndrome velocardiofacial syndrome or conotruncal anomaly face syndrome - is referred to using the underlying cytogenetic nomenclature: 22q11.2DS22 23 In this Primer we focus on our current understanding of the 22q11.2DS phenotype and its genetic underpinnings. (brain-tumor-cancer-information.com)
Symptoms3
  • The signs and symptoms of 22q13.3 deletion syndrome are probably related to the loss of multiple genes at the end of chromosome 22. (medlineplus.gov)
  • 22 deletion symptoms (22q11. (brain-tumor-cancer-information.com)
  • 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. (beds.ac.uk)
Psychiatric1
  • Like several other deletion syndromes associated with psychiatric or cognitive problems, it has been difficult to determine which of the specific genes in this genomic region may mediate the syndrome. (nih.gov)
Facial1
Region2
  • In this review, we discuss the individual genes found in the region of 22q11 that is commonly deleted in 22qDS patients, and the potential roles each of these genes may play in the syndrome. (nih.gov)
  • 12. Co-occurrence of recurrent duplications of the DiGeorge syndrome region on both chromosome 22 homologues due to inherited and de novo events. (nih.gov)
Chromosomal1
  • Cat-eye syndrome is a rare disorder most often caused by a chromosomal change called an inverted duplicated 22. (wikipedia.org)
Incidence1
  • An example of a development cause is Möbius syndrome , which has an incidence of 1 per 50,000 births. (medscape.com)
Occurs when an individual1
  • Originally known as Supernumerary der (22) Syndrome, it occurs when an individual has an extra chromosome composed of pieces of the 11th and 22nd chromosomes. (wikipedia.org)
Cognitive1
  • Conclusion: Results from this study not only contribute to the understanding of the neuroanatomical variation in DS22q11.2, but also provide insight into the nature and source of the cognitive impairments associated with the syndrome. (sagepub.com)
Phenotype1
  • 6. Deletion of 22q11 in two brothers with different phenotype. (nih.gov)
Phenotypic1
Commonly1
  • 22q13.3 deletion syndrome, which is also commonly known as Phelan-McDermid syndrome, is caused by a deletion near the end of the long (q) arm of chromosome 22. (medlineplus.gov)
Patients1
Cardiovascular2
  • Cardiovascular disorders in Turner's syndrome and its correlation to karyotype. (ntu.edu.tw)
  • Authors discuss the type of cardiovascular pathologies in Down, Turner, Noonan, Williams and deletion 22q11.2 syndromes. (czytelniamedyczna.pl)