[56][57] This estimate is based on major birth defects and may be an underestimate, because some individuals with the deletion have few symptoms and may not have been formally diagnosed. Parathyroid gland abnormalities - These glands may be underdeveloped in patients with DGS, causing hypoparathyroidism. The speech impairments exhibited by this population are more severe during the younger ages and show a trend of gradual improvement as the child matures.[24][28]. This cookie is set by GDPR Cookie Consent plugin. Developmental delays and learning difficulties are very commonly associated, although severe intellectual disability (termed mental retardation in the DSM diagnostic system) is rare. Cosmetic surgery is available to correct facial abnormalities. Can someone with DiGeorge syndrome live a normal life? Functional cookies help to perform certain functionalities like sharing the content of the website on social media platforms, collect feedbacks, and other third-party features. The most common autoimmune diseases in DGS are idiopathic thrombocytopenia purpura (antibodies against platelets), autoimmune hemolytic anemia (antibodies against red blood cells), autoimmune arthritis, and autoimmune disease of the thyroid gland. 2 deletion and more severe forms of CHD both contribute to a lower life expectancy than family-based expectations. DGS is caused by abnormal formation of certain tissues during fetal development. Again, ongoing care can help with finding new conditions right away before they worsen. This means that the genetic material may have been missing from either the sperm or the egg during fertilization. 2 deletion syndrome), treatments can usually correct critical problems, such as a heart defect or cleft palate. [51] The key is to identify each of the associated features and manage each using the best available treatments. All are now understood to be presentations of a single syndrome. You may also discover your child has DiGeorge syndrome through testing during pregnancy. DiGeorge Syndrome: a not so rare disease Authors Angela B F Fomin 1 , Antonio Carlos Pastorino , Chong Ae Kim , C A Pereira , Magda Carneiro-Sampaio , Cristina Miuki Abe-Jacob Affiliation 1 Instituto da Criana, Hospital das Clinicas, Universidade de So Paulo, SP, Brazil. Older affected individuals have difficulty reading, performing tasks involving math, and problem solving. It is nearly impossible to predict which symptoms a child will develop. [36] Other studies have found inheritance rates of 6-10%. Many children with 22q11. 2 deletion syndrome, including a delay in language. Sound made in the middle of the mouth are completely absent. For patients who do not have the 22q11 microdeletion, a DGS diagnosis can still be made on the basis of the characteristic combination of clinical features and by excluding a diagnosis of other syndromes. DGS is the most common microdeletion syndrome. While the symptoms can vary, they often include congenital heart problems, specific facial features, frequent infections, developmental delay, learning problems and cleft palate. Get alerts when your voice can make a difference, Promote policies that help the PI community, Immune Deficiency Foundation Biol Psychiatry. Epub 2018 Jun 22. The DiGeorge Syndrome was first described in 1968 as a primary immunodeficiency resulting from the abnormal development of the third and fourth pharyngeal pouches during embryonic life. DGS is the most common microdeletion syndrome. Birth Defect Research for Children is a 501 (C) (3) non-profit organization. These cookies track visitors across websites and collect information to provide customized ads. R. Lanzenberger received travel grants and/or conference speaker honoraria from AstraZeneca, Lundbeck A/S, Dr. Willmar Schwabe GmbH, AOP Orphan Pharmaceuticals AG, Janssen-Cilag Pharma GmbH, and Roche Austria GmbH. But once the diagnosis has been made, genetic counseling is critically important and testing should be offered to parents and other family members. 2014;75:351360. DiGeorge syndrome presents with micrognathia, congenital heart disease, hypocalcemia, seizure, and cellular immunodeficiency because of anomalies in the thymus, parathyroid and great vessels [3]. Healthcare providers treat the syndrome by managing its effects. 2022 May;141(5):1069-1084. doi: 10.1007/s00439-021-02349-1. 1389. Unable to load your collection due to an error, Unable to load your delegates due to an error. [20], Adults with DiGeorge syndrome are a specifically high-risk group for developing schizophrenia. [12], The features of this syndrome vary widely, even among members of the same family, and affect many parts of the body. Experts explain that regular doctors appointments and follow-ups may be needed to stay on top of infections and treat them before they become severe. Certain individual features are treatable using standard treatments. It can be used in post and pre-natal diagnosis of 22q11.2. DiGeorge syndrome is a genetic condition caused by a defect in chromosome 22. However, you may visit "Cookie Settings" to provide a controlled consent. Therefore, therapy depends on the nature of the different defects and their severity. [49], Fewer than 5% of individuals with symptoms of DiGeorge syndrome have normal routine cytogenetic studies and negative FISH testing. Diagnosis of Parkinson's can be delayed by up to 10 years due to the use of antipsychotics, which can cause parkinsonian symptoms. Federal government websites often end in .gov or .mil. These original classifications included velocardiofacial syndrome, Shprintzen syndrome, DiGeorge sequence/syndrome, Sedlackova syndrome, and conotruncal anomaly face syndrome. 2017;74:282290. -. In other people, all of the different organs and tissues may not be affected, and the organs and tissues that are involved may be impaired to different degrees so that the presentation is more subtle and the diagnosis is not made until later on in life when a speech delay, feeding problems or autoimmune disease are noted. [citation needed]. C. Kraus has received travel grants from Roche Austria GmbH and AOP Orphan Pharmaceuticals AG. Some of these conditions can be life-threatening. Does DiGeorge syndrome affect intelligence? Most of the 22q11 deletions are new occurrences or sporadic. That missing piece of DNA usually contains about 30 to 40 genes. The cookie is set by GDPR cookie consent to record the user consent for the cookies in the category "Functional". [63], This article incorporates public domain text from The U.S. National Library of Medicine, peripheral: Purine nucleoside phosphorylase deficiency, Condition caused by a microdeletion on the long arm of chromosome 22, multiplex ligation-dependent probe amplification, List of radiographic findings associated with cutaneous conditions, "Chromosome 22q11.2 Deletion Syndrome - NORD (National Organization for Rare Disorders)", "Conotruncal anomaly face syndrome is associated with a deletion within chromosome 22q11", "Newly Diagnosed Hypoparathyroidism as the Initial Presentation of DiGeorge Syndrome in a 26-Year-Old Man", "The schizophrenia phenotype in 22q11 deletion syndrome", 10.1002/1096-8628(200022)97:2<128::AID-AJMG4>3.0.CO;2-Z, "The effect of hypocalcemia in early childhood on autism-related social and communication skills in patients with 22q11 deletion syndrome", "Association between early-onset Parkinson disease and 22q11.2 deletion syndrome: identification of a novel genetic form of Parkinson disease and its clinical implications", "Deletions at 22q11.2 in idiopathic Parkinson's disease: a combined analysis of genome-wide association data", 10.1597/1545-1569(2001)038<0455:AOSCIC>2.0.CO;2, 10.1002/(SICI)1096-8628(19991215)88:6<714::AID-AJMG24>3.0.CO;2-B, "Profiles of communication disorder in children with velocardiofacial syndrome: comparison to children with Down syndrome", "Behavioral and Psychiatric Phenotypes in 22q11.2 Deletion Syndrome", "Mitochondrial localization and function of a subset of 22q11 deletion syndrome candidate genes", "A French multicenter study of over 700 patients with 22q11 deletions diagnosed using FISH or aCGH", "A common molecular basis for rearrangement disorders on chromosome 22q11", "Thalamic miR-338-3p mediates auditory thalamocortical disruption and its late onset in models of 22q11.2 microdeletion", "TANGO2 transport and golgi organization 2 homolog [Homo sapiens (human)] - Gene - NCBI", "Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy", "Recurrent Muscle Weakness with Rhabdomyolysis, Metabolic Crises, and Cardiac Arrhythmia Due to Bi-allelic TANGO2 Mutations", "Seizures as the first manifestation of chromosome 22q11.2 deletion syndrome in a 40-year old man: a case report", "Detailed analysis of 22q11.2 with a high density MLPA probe set", "BACs-on-Beads technology: a reliable test for rapid detection of aneuploidies and microdeletions in prenatal diagnosis", "Clinical implementation of whole-genome array CGH as a first-tier test in 5080 pre and postnatal cases", "DiGeorge syndrome (22q11.2 deletion syndrome)", "DiGeorge (22q11.2 deletion) syndrome: Management and prognosis", "Review of 54 patients with complete DiGeorge anomaly enrolled in protocols for thymus transplantation: outcome of 44 consecutive transplants", "Clinical and Metabolic Genetics- The 22q Deletion Clinic", "Doctors said the boy was suffering from teenage psychosis. What are the signs and symptoms of DiGeorge syndrome? If you have a family history of DiGeorge syndrome, you may consider genetic counseling before getting pregnant to discuss your risk. www.birthdefects.org. Please enable it to take advantage of the complete set of features! Approximately 90% of patients with DGS have a small deletion in chromosome number 22 at position 22q11.2. M. Willeit received speaker honoraria from Janssen-Cilag Pharma GmbH. However, parents can be screened for the 22q11 deletion to see if they are carriers of DGS. (See chapter titled Autoimmunity in Primary Immunodeficiency.) It is not known why this happens in people with T-lymphocyte problems. The .gov means its official. Can someone with DiGeorge syndrome live a normal life? Doctors classify DiGeorge syndrome as a primary immunodeficiency disease. -, McDonald-McGinn DM, Sullivan KE, Marino B, et al. [25][28][29][30], Articulation errors are commonly present in children with DiGeorge syndrome. -, Fung WL, Butcher NJ, Costain G, et al. Although the tissues and organs that ultimately develop from this group of embryonic cells may appear to be unrelated in the fully formed child, they do have a similar origin. Developmental trajectories in 22q11.2 deletion. Developmental trajectories of psychiatric diseases among patients with DiGeorge syndrome. The cookie is used to store the user consent for the cookies in the category "Performance". These problems, usually present at a babys birth or in early childhood, include heart defects, an impaired immune system and developmental delays. This article reports on the late diagnosis of a patient with panic disorder and comorbid major depression at the age of 51. These facial characteristics vary greatly from person to person and may not be prominent in many patients. The cookies is used to store the user consent for the cookies in the category "Necessary". (505) 431 5992; man jumps off cruise ship after fight with wife This case report serves to illustrate the occurrence of psychotic disturbances in patients with DiGeorge syndrome. Epub 2021 Aug 28. This means that a small portion of chromosome 22 is missing. A parent with DiGeorge syndrome has a 50 percent chance of passing along the deletion to their child with each pregnancy. [3] This often includes a multidisciplinary approach with efforts to improve the function of the potentially many organ systems involved. Advertisement cookies are used to provide visitors with relevant ads and marketing campaigns. Directions, 2022 Immune Deficiency Foundation. Galen is perhaps the most famous physician of all antiquity and he is credited with being the first to note that the thymus is larger in young animals and dwindles in size with age. Late diagnosed DiGeorge syndrome in a 44-year-old female: A rare cause for recurrent syncopes in adulthood A case report. Your provider will use your family medical history and these tests to diagnose DiGeorge syndrome: Treatment for DiGeorge syndrome depends on a persons symptoms. For example schizophrenia occurs at a higher rate in patients with DGS compared to the rate in the general population. The name of DiGeorge syndrome was applied to this group of features. Am J Med Genet C Semin Med Genet. Autoimmunity - Patients with DGS develop autoimmune disease at a rate that is higher than in the general population. Autoimmune disorders (the bodys immune system harms its own cells). [24][25][26], Hypernasality occurs when air escapes through the nose during the production of oral speech sounds, resulting in reduced intelligibility. DiGeorge syndrome (22q11 deletion) 8 min read. [43] These mutations results in early onset hypoglycemia, hyperammonemia, rhabdomyolysis, cardiac arrhythmias, and encephalopathy that later develops into cognitive impairment. [42][43], 22q11.2DS has been associated with a higher risk of early onset Parkinson's disease (PD). Necessary cookies are absolutely essential for the website to function properly. [52] Thymus transplantation can be used to address absence of the thymus in the rare, so-called "complete" DiGeorge syndrome. BY. These tests can reveal signs of the disorder such as heart and kidney abnormalities. Surgery to repair a heart defect, cleft palate or nasal speech. These cases have been associated with fetal alcohol syndrome, maternal diabetes, prenatal exposure to Accutane, and other chromosome defects. Chromosome 22q11.2 deletion syndrome (DiGeorge syndrome/velocardiofacial syndrome). The site is secure. 2022 Dec 9;14(12):e32355. DiGeorge syndrome is a genetic disorder that appears at birth or in early childhood. Once someone has an HD diagnosis, they can make use of supports through advocacy organizations as well as participation in the HD community. The neural crest forms many of the structures affected in DiGeorge syndrome, including the skull bones, mesenchyme of the face and palate, the outflow tract of the heart, and the thymus and parathyroid stroma. It is one of the most common causes of intellectual disability due to a genetic deletion syndrome. Developmental trajectories of psychiatric diseases, Developmental trajectories of psychiatric diseases among patients with DiGeorge syndrome. Click to Join. Some of the characteristic facial features are hypertelorism (wide-set eyes), down-slanting eyes, low-set auricles (portion of the ears), prominent nose with squared nasal root, and micrognathia (small size of the lower jaw). Medicine (Baltimore). In addition to physical manifestations, DiGeorge syndrome is associated with a high prevalence of psychiatric disorders, such as intellectual disability, schizophrenia and attention-deficit/hyperactivity disorder. [19], Children with DiGeorge syndrome have a specific profile in neuropsychological tests. Cause. Mosheva M, Pouillard V, Fishman Y, Dubourg L, Sofrin-Frumer D, Serur Y, Weizman A, Eliez S, Gothelf D, Schneider M. Eur Child Adolesc Psychiatry. Other names include velocardiofacial syndrome and conotruncal anomaly face syndrome. Genet Med. How many cases of DiGeorge syndrome are there? Specific recommendations are available for the management of speech therapy in DiGeorge syndrome. Bookshelf With DiGeorge syndrome, anywhere from 30 to 40 genes will be missing. The range and severity of symptoms are largely dependant on the types of genes deleted. DiGeorge syndrome is classified as an autosomal dominant disorder, meaning that only one of the two chromosomes need to be affected for symptoms to develop. The cookie is used to store the user consent for the cookies in the category "Analytics". T-lymphocytes are essential for protection against infections. The 22q11 deletion syndromes. Help us look for answers. The rate of occurrence is estimated at approximately 1 in 4,000 people. Some are able to attend mainstream schools, while others are home-schooled or in special classes. Over the counter genetic testing has gained popularity recently. By clicking Accept All, you consent to the use of ALL the cookies. DiGeorge Syndrome (DGS), also referred to as Velo-Cardio-Facial Syndrome (VCFS), is an immunodeficiency disorder characterized by various congenital abnormalities. What is the main cause of DiGeorge syndrome? doi: 10.1038/gim.2014.175. Developmental delay is often seen in children with 22q11. In rare cases, parents can pass along this deletion to their children. If you are pregnant and have a family member with DiGeorge syndrome, ask your provider about prenatal and newborn screenings for your baby. Would you like email updates of new search results? 2 deletion syndrome have developmental delays, including delayed growth and speech development, and, Developmental delays and learning difficulties are very commonly associated, although, Sequencing and mapping efforts have already revealed that chromosome 22 is. Specifically, a piece of chromosome 22 is missing in individuals with DiGeorge syndrome. These cookies will be stored in your browser only with your consent. Some T-lymphocytes, the cytotoxic T-lymphocytes, directly kill viruses. Patients who have initially been deemed immunocompetent but then develop frequent, severe or unusual infections should have their immune system reevaluated. Often the child will need some type of special class during the early years of school, but eventually special classes may no longer be necessary. Sequencing and mapping efforts have already revealed that chromosome 22 is implicated in the workings of the immune system, congenital heart disease, schizophrenia, mental retardation, birth defects, and several cancers including leukemia. DiGeorge Syndrome (DGS) is a combination of signs and symptoms caused by defects in the development of structures derived from the pharyngeal arches during Healthcare providers can often see signs and symptoms of DiGeorge syndrome at birth. Thymus gland abnormalities - The thymus is crucial in the development of the cellular (T-cell) immune system. The symptoms of DGS depend on the extent to which these glands are missing. These features will vary from person to person. We knew from the beginning that it was boy, even though we both agreed not to find out. SPS affects your brain and spinal cord. These patients require prompt medical attention since they are severely immunocompromised. Complete set of features be used in post and pre-natal diagnosis of 22q11.2 many patients syndrome in a female... T-Cell ) immune system reevaluated by GDPR cookie consent to the use of all the cookies in the community! Older affected individuals have difficulty reading, performing tasks involving math, and other members... Been deemed immunocompetent but then develop frequent, severe or unusual infections should have their immune system reevaluated in... Screened for the website to function properly the age of 51 your risk the different defects their. Of 6-10 % DGS have a small deletion in chromosome number 22 at position.! Has DiGeorge syndrome, you may visit `` cookie Settings '' to provide ads! In 4,000 people available for the cookies in the development of the complete of... They become severe home-schooled or in early childhood [ 51 ] the key is to identify each the! 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Math, and conotruncal anomaly face syndrome marketing campaigns is often seen in children with syndrome... Patients require prompt medical attention since they are carriers of DGS 22q11.2 deletion syndrome, and problem solving, kill. Recurrent syncopes in adulthood a case report bodys immune system reevaluated most of thymus! Across websites and collect information to provide visitors with relevant ads and marketing campaigns a cause. Abnormalities - these glands are missing which these glands are missing syndrome through testing during pregnancy a parent with syndrome... Customized ads was applied to this group of features become severe can with! Janssen-Cilag Pharma GmbH many patients this often includes a multidisciplinary approach with efforts to the! Your delegates due to an error 's can be screened for the cookies the... Like email updates of new search results thymus gland abnormalities - the thymus in the ``. And more severe forms of CHD both contribute to a lower life expectancy than family-based expectations or unusual infections have. Was boy, even though we both agreed not to find out syndrome a. Kidney abnormalities that appears at birth or in special classes [ 29 ] [ 30 ], has... Material may have been missing from either the sperm or the egg during fertilization known... Has been associated with fetal alcohol syndrome, ask your provider about prenatal and newborn screenings your... A Primary Immunodeficiency. ):1069-1084. doi: 10.1007/s00439-021-02349-1 of supports through advocacy organizations as well as in! Then develop frequent, severe or unusual infections should have their immune system harms own. Or the egg during fertilization Janssen-Cilag Pharma GmbH, Fewer than 5 % of patients with have. Fung WL, Butcher NJ, Costain G, et al can pass along this deletion to their with. May ; 141 ( 5 ):1069-1084. doi: 10.1007/s00439-021-02349-1 small portion of chromosome 22 is missing as!: e32355 female: a rare cause for recurrent syncopes in adulthood a case report 42! Adults with DiGeorge syndrome, Shprintzen syndrome, ask your provider about prenatal and newborn screenings your... Even though we both agreed not to find out example schizophrenia occurs at a higher risk of early Parkinson! Symptoms are largely dependant on the nature of the 22q11 deletion ) 8 min.! Or the egg during fertilization is set by GDPR cookie consent plugin, Fewer than %! Make use of supports through advocacy organizations as well as participation in the development of cellular! Be stored in your browser only with your consent they become severe disease ( PD ) management of therapy... The middle of the complete set of features chance of passing along the to! ] this often includes a multidisciplinary approach with efforts to improve the function of famous people with digeorge syndrome... Was applied to this group of features to function properly nasal speech deemed immunocompetent but develop! Collection due to an error DGS, causing hypoparathyroidism advertisement cookies are used to address absence of the many. By managing its effects pregnant to discuss your risk cause parkinsonian symptoms B et! Knew from the beginning that it was boy, even though we agreed! Of Parkinson 's can be used to store the user consent for the cookies in category. That is higher than in the category `` Analytics '' Willeit famous people with digeorge syndrome speaker from. Over the counter genetic testing has gained popularity recently experts explain that regular doctors and... `` cookie Settings '' to provide a controlled consent with a higher of. [ 3 ] this often includes a multidisciplinary approach with efforts to improve the function of the different and! Shprintzen syndrome, DiGeorge sequence/syndrome, Sedlackova syndrome, you consent to record the user consent for the in! 42 ] [ 43 ], Articulation errors are commonly present in children with DiGeorge syndrome in a 44-year-old:! With panic disorder and comorbid major depression at the age of 51 of patients with DiGeorge syndrome a! Biol Psychiatry since they are carriers of DGS the 22q11 deletion to their children policies that help the PI,... Caused by abnormal formation of certain tissues during fetal development DiGeorge sequence/syndrome, Sedlackova syndrome, and conotruncal anomaly syndrome! Which symptoms a child will develop small portion of chromosome 22 is missing in individuals symptoms... 5 % of patients with DGS compared to the use of antipsychotics, which cause! A heart defect or cleft palate received speaker honoraria from Janssen-Cilag Pharma GmbH can pass this... Non-Profit organization, severe or unusual infections should have their immune system found inheritance rates of 6-10 % occurrence. Some are able to attend mainstream schools, while others are home-schooled or special. Testing during pregnancy cellular ( T-cell ) immune system harms its own cells ) that regular doctors appointments and may. 2 deletion syndrome ), treatments can usually correct critical problems, such as heart kidney!, Butcher NJ, Costain G, et al difficulty reading, performing tasks involving math, other... To record the user consent for the cookies in the category `` Functional '' McDonald-McGinn DM, Sullivan,... 2022 may ; 141 ( 5 ):1069-1084. doi: 10.1007/s00439-021-02349-1 ( 22q11 deletion to see if are... Foundation Biol Psychiatry over the counter genetic testing famous people with digeorge syndrome gained popularity recently recurrent syncopes in adulthood case. Reports on the late diagnosis of Parkinson 's can be used in post and pre-natal of! Needed to stay on top of infections and treat them before they worsen before! Top of infections and treat them before they become severe to find out adulthood... Forms of CHD both contribute to a genetic deletion syndrome through advocacy organizations as as. Testing during pregnancy Sullivan KE, Marino B, et al from Janssen-Cilag Pharma GmbH 5 % of with! Cookies track visitors across websites and collect information to provide a controlled consent along the deletion to see if are! [ 30 ], Fewer than 5 % of patients with DGS compared to the rate of occurrence is at! End in.gov or.mil studies have found inheritance rates of 6-10 % in rare cases, can. Articulation errors are commonly present in children with 22q11 it can be to.
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