Materiały źródłowe

• #1 22q11.2 deletion syndrome | MedLink Neurology

  https://www.medlink.com/articles/22q11-2-deletion-syndrome

  DiGeorge and velocardiofacial syndrome (22q11.2 deletion syndrome) is the most common microdeletion disorder in humans and, hence, one of the most common multiple malformation syndromes, with an estimated prevalence of 1 in 2000 to 1 in 4000. […] The combined incidence of DiGeorge and velocardiofacial syndrome has been estimated to be approximately 1 in 2000 to 1 in 4000. […] Males and females are affected equally, with no apparent differences among ethnic groups.

• #2 DiGeorge (22q11.2 deletion) syndrome: Epidemiology and pathogenesis – UpToDate

  https://www.uptodate.com/contents/digeorge-22q11-2-deletion-syndrome-epidemiology-and-pathogenesis

  DiGeorge (22q11.2 deletion) syndrome: Epidemiology and pathogenesis […] A large population-based study in the United States designed to ascertain the prevalence, phenotype, and incidence of cardiac disease revealed that heterozygous chromosome 22q11.2 deletions are relatively common in the general population, making 22qDS the most prevalent microdeletion syndrome. This study found that 1 in 5950 live-births had a deletion in this chromosomal area, and, within this subset of infants, 83 percent had an associated cardiac defect. Another population-based study reported that the incidence of 22qDS was as high as 1 in 4000 live-births. Two multicenter studies aimed at prenatal population-based genetic screening found that the incidence for 22qDS was considerably higher than postnatal population-based studies, with prevalences as high as approximately 1 in 400 to 1000 fetuses in low-risk pregnancies.

• #3 22q11.2 deletion syndrome | Radiology Reference Article | Radiopaedia.org

  https://radiopaedia.org/articles/22q112-deletion-syndrome-1?lang=us

  The estimated incidence is at ~1 in 4000-6000 live pregnancies 4,10. […] 22q11 deletions are associated with some types of conotruncal cardiac defects as well as conotruncal anomaly face syndrome 5.

• #4 22q11.2 Deletion Syndrome – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1523/

  22q11.2DS is the most frequent chromosome microdeletion syndrome. In a population-based study in Sweden, the mean annual incidence was 14.1:100,000 live births. A US population-based study found an overall prevalence of about 1:6,000 in whites, blacks, and Asians, and 1:3,800 in Hispanics. […] Surveillance: Evaluation for nasal speech quality after language emergence; antibody studies to assess seroconversion; reevaluate immune status in childhood before administration of live vaccines; annual complete blood count and differential; serum ionized calcium every three to six months in infancy, every five years through childhood, every one to two years thereafter, preoperatively and postoperatively, and regularly during pregnancy; TSH and free T4 annually; ophthalmologic evaluation between age one and three years or as indicated; audiology evaluation in infancy, at preschool age, and in school age children; developmental assessments annually; annual clinical surveillance for scoliosis; dental examination every six months. […] Genetic counseling: 22q11.2DS is an autosomal dominant contiguous gene deletion syndrome. In 22q11.2DS caused by a 3.0 (2.54)-Mb deletion, the deletion is de novo in more than 90% of individuals and inherited from a heterozygous parent in about 10% of individuals.

• #5 22q11.2 Deletion Syndrome – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1523/

  22q11.2DS is the most frequent chromosome microdeletion syndrome. In a population-based study in Sweden, the mean annual incidence was 14.1:100,000 live births. A US population-based study found an overall prevalence of about 1:6,000 in whites, blacks, and Asians, and 1:3,800 in Hispanics. […] Surveillance: Evaluation for nasal speech quality after language emergence; antibody studies to assess seroconversion; reevaluate immune status in childhood before administration of live vaccines; annual complete blood count and differential; serum ionized calcium every three to six months in infancy, every five years through childhood, every one to two years thereafter, preoperatively and postoperatively, and regularly during pregnancy; TSH and free T4 annually; ophthalmologic evaluation between age one and three years or as indicated; audiology evaluation in infancy, at preschool age, and in school age children; developmental assessments annually; annual clinical surveillance for scoliosis; dental examination every six months. […] Genetic counseling: 22q11.2DS is an autosomal dominant contiguous gene deletion syndrome. In 22q11.2DS caused by a 3.0 (2.54)-Mb deletion, the deletion is de novo in more than 90% of individuals and inherited from a heterozygous parent in about 10% of individuals.

• #6 What You Should Know About 22q11.2 Deletion Syndrome – LifeLabs

  https://www.lifelabs.com/what-you-should-know-about-22q/

  This syndrome is caused by a missing piece of chromosome number 22, which affects the development of various organs and systems in the body. This genetic change can cause an array of health issues including congenital heart defects, immune deficiencies, hypocalcemia, palatal abnormalities, and developmental delays, and behavioral and learning differences. […] A diagnosis of 22q11.2 deletion syndrome is not always obvious during pregnancy or after the child is born. The average age of diagnosis after birth is 4 years old. Early prenatal screening for 22q11.2 deletion syndrome assists healthcare providers to offer treatment and management strategies that are meant to improve health outcomes for a child affected with the condition, starting at birth. […] Recent studies determined the prevalence of 22q11.2 deletion syndrome is approximately 1 in 1524, which was much higher than previously expected. This is even more common than cystic fibrosis (1/2,500). […] Microdeletions usually occur randomly and are not impacted by age or race of the pregnant individual. A small percentage of people inherit 22q from a parent. […] Microdeletions are more common than trisomy 21 (Down syndrome) in individuals younger than 28 years of age.

• #7 DiGeorge (22q11.2 deletion) syndrome: Epidemiology and pathogenesis – UpToDate

  https://www.uptodate.com/contents/digeorge-22q11-2-deletion-syndrome-epidemiology-and-pathogenesis

  DiGeorge (22q11.2 deletion) syndrome: Epidemiology and pathogenesis […] A large population-based study in the United States designed to ascertain the prevalence, phenotype, and incidence of cardiac disease revealed that heterozygous chromosome 22q11.2 deletions are relatively common in the general population, making 22qDS the most prevalent microdeletion syndrome. This study found that 1 in 5950 live-births had a deletion in this chromosomal area, and, within this subset of infants, 83 percent had an associated cardiac defect. Another population-based study reported that the incidence of 22qDS was as high as 1 in 4000 live-births. Two multicenter studies aimed at prenatal population-based genetic screening found that the incidence for 22qDS was considerably higher than postnatal population-based studies, with prevalences as high as approximately 1 in 400 to 1000 fetuses in low-risk pregnancies.

• #8 DiGeorge Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK549798/

  DiGeorge syndrome (DGS) is a congenital disorder with a broad phenotypic presentation, which results predominantly from the microdeletion of chromosome 22 at a location known as 22q11.2. […] Microdeletion of 22q11.2 is the most common microdeletion syndrome, affecting approximately 0.1% of fetuses. The rate of 22q11.2 microdeletion in live births occurs at an estimated rate of 1 in 4000 to 6000. […] The prevalence of 22q11.2 microdeletion may be more common than supported in literature due to several factors. Firstly, not every patient with this microdeletion presents with several craniofacial abnormalities and hence does not undergo genetic testing. African-American children, for example, may not have the craniofacial abnormalities characteristic of DGS in other races. Secondly, access to healthcare, specifically genetic testing, is not available to every individual that might have the microdeletion, regardless of the severity of craniofacial dysmorphism. Further population studies are therefore needed to fully understand the extent and spectrum of 22q11.2 microdeletions in different populations.

• #9 DiGeorge syndrome – Wikipedia

  https://en.wikipedia.org/wiki/DiGeorge_syndrome

  DiGeorge syndrome is estimated to affect between one in 2000 and one in 4000 live births. 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. It is one of the most common causes of intellectual disability due to a genetic deletion syndrome. […] The number of people affected has been expected to rise because of multiple reasons: (1) surgical and medical advances, an increasing number of people are surviving heart defects associated with the syndrome. These individuals are in turn having children. The chances of a person with DiGeorge syndrome having an affected child is 50% for each pregnancy; (2) Parents who have affected children, but who were unaware of their own genetic conditions, are now being diagnosed as genetic testing become available; (3) Molecular genetics techniques such as FISH (fluorescence in situ hybridization) have limitations and have not been able to detect all 22q11.2 deletions. Newer technologies have been able to detect these atypical deletions.

• #10 22Q11.2 Deletion Syndrome (Digeorge Syndrome, Velocardiofacial Syndrome) | Select 5-Minute Pediatrics Topics

  https://www.unboundmedicine.com/5minute/view/Select-5-Minute-Pediatric-Consult/14081/all/22Q11_2_Deletion_Syndrome__Digeorge_Syndrome_Velocardiofacial_Syndrome_?q=Common+immunodeficiency+variable

  Prevalence is estimated at up to 1 in 2,000 live births. […] This syndrome is underrecognized at all ages; thus, an index of suspicion is needed for any child with multisystem features. […] Monitor growth and development. […] Monitor hearing. […] Monitor for emerging endocrine, psychiatric, autoimmune, skeletal, obesity, and other disorders. […] Cardiac monitoring for aortic root dilation. […] Genetic and reproductive counseling for adolescents and at transition to adult care.

• #11 DiGeorge syndrome – Wikipedia

  https://en.wikipedia.org/wiki/DiGeorge_syndrome

  DiGeorge syndrome is estimated to affect between one in 2000 and one in 4000 live births. 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. It is one of the most common causes of intellectual disability due to a genetic deletion syndrome. […] The number of people affected has been expected to rise because of multiple reasons: (1) surgical and medical advances, an increasing number of people are surviving heart defects associated with the syndrome. These individuals are in turn having children. The chances of a person with DiGeorge syndrome having an affected child is 50% for each pregnancy; (2) Parents who have affected children, but who were unaware of their own genetic conditions, are now being diagnosed as genetic testing become available; (3) Molecular genetics techniques such as FISH (fluorescence in situ hybridization) have limitations and have not been able to detect all 22q11.2 deletions. Newer technologies have been able to detect these atypical deletions.

• #12 DiGeorge Syndrome: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/886526-overview

  Estimates of the incidence of 22q11.2DS range from 1 per 4000 to 1 per 7000 births. These estimates are based on a few population-based screening studies done in the 1990s and early 2000s and the diagnoses based on FISH technology. Thus, smaller deletions would have been missed. True prevalence can only be determined by uniform newborn screening. […] Although 22q11.2DS is a congenital condition, the age at diagnosis is variable, being largely dependent on the severity and the types of associated birth defects. Thus, patients with more serious congenital cardiac defects or hypocalcemia are likely to be diagnosed in the neonatal period whereas those with only a submucous cleft palate and delayed speech, mild cardiac defects, normal immune function, or minimal facial anomalies are detected much later in childhood. Recurrent infections usually present in patients older than 3-6 months. […] Late diagnosis into adulthood continues to be reported, especially in persons with isolated mild symptoms. Prenatal diagnosis in fetuses with a congenital heart anomaly has been made frequently and should be offered to a pregnant woman at risk of carrying a fetus with this syndrome.

• #13 22q11.2 deletion syndrome | MedLink Neurology

  https://www.medlink.com/articles/22q11-2-deletion-syndrome

  DiGeorge and velocardiofacial syndrome (22q11.2 deletion syndrome) is the most common microdeletion disorder in humans and, hence, one of the most common multiple malformation syndromes, with an estimated prevalence of 1 in 2000 to 1 in 4000. […] The combined incidence of DiGeorge and velocardiofacial syndrome has been estimated to be approximately 1 in 2000 to 1 in 4000. […] Males and females are affected equally, with no apparent differences among ethnic groups.

• #14 22q11.2 Deletion Syndrome – MN Dept. of Health

  https://www.health.state.mn.us/diseases/cy/22q112.html

  Chromosome 22q11.2 deletion syndrome occurs in approximately 1 out of every 4000 live births and in most cases the patient is the first to have the condition in the family. […] However, because the number of features and the level of severity can be so different in each person who has it, many investigators believe that the condition is likely more common than these estimates suggest. […] 22q11.2 deletion syndrome is the second most common cause of developmental delay and major congenital heart disease after Down syndrome. It accounts for approximately 2.4% of people with developmental disabilities and approximately 10% to 15% of people with Tetralogy of Fallot (a type of heart defect). Males and females of all ethnic backgrounds are affected in equal numbers.

• #15 What You Should Know About 22q11.2 Deletion Syndrome – LifeLabs

  https://www.lifelabs.com/what-you-should-know-about-22q/

  This syndrome is caused by a missing piece of chromosome number 22, which affects the development of various organs and systems in the body. This genetic change can cause an array of health issues including congenital heart defects, immune deficiencies, hypocalcemia, palatal abnormalities, and developmental delays, and behavioral and learning differences. […] A diagnosis of 22q11.2 deletion syndrome is not always obvious during pregnancy or after the child is born. The average age of diagnosis after birth is 4 years old. Early prenatal screening for 22q11.2 deletion syndrome assists healthcare providers to offer treatment and management strategies that are meant to improve health outcomes for a child affected with the condition, starting at birth. […] Recent studies determined the prevalence of 22q11.2 deletion syndrome is approximately 1 in 1524, which was much higher than previously expected. This is even more common than cystic fibrosis (1/2,500). […] Microdeletions usually occur randomly and are not impacted by age or race of the pregnant individual. A small percentage of people inherit 22q from a parent. […] Microdeletions are more common than trisomy 21 (Down syndrome) in individuals younger than 28 years of age.

• #16 DiGeorge syndrome (22q11.2 deletion syndrome) – The Oncofertility Consortium

  https://oncofertility.msu.edu/non-malignant-conditions/digeorge-syndrome-22q11-2-deletion-syndrome/

  DiGeorge Syndrome (22q11.2 deletion syndrome), which is also referred to as velocardiofacial syndrome, is one of the most common genetic syndromes with a prevalence of 1:4000. With approximately 2.5 million children born each year in the United States, it is estimated that around 500 to 750 new cases of DiGeorge Syndrome will be identified yearly. […] As in all microdeletion syndromes, inheritance is autosomal dominant, however most cases of DiGeorge syndrome result from a de novo microdeletion. […] DiGeorge Syndrome is commonly diagnosed prenatally. Current indications for prenatal testing for 22q11.2 include a previous child with a 22q11.2 deletion; even though this recurrence risk may be low there is a possibility for germline mosaicism, an affected parent with a 22q11.2 deletion or a visible congenital heart defect seen on a prenatal ultrasound.

• #17 DiGeorge syndrome (22q11.2 deletion syndrome) – The Oncofertility Consortium

  https://oncofertility.msu.edu/non-malignant-conditions/digeorge-syndrome-22q11-2-deletion-syndrome/

  Postnatal diagnosis of DiGeorge syndrome is generally straightforward. A majority of patients with a clinical phenotype of DiGeorge syndrome have a hemizygous deletion of chromosome 22q11.2. The current most accurate method of diagnosis is FISH analysis, however this method can be expensive. MLPA testing has a relatively low cost, and is a suitable screening method for 22q11.2. […] DiGeorge Syndrome or 22q11.2 deletion syndrome has many symptoms that can affect almost every region of the body in an affected individual. Features can vary widely among affected individuals, even those from the same family. […] Although not as common, it is important to note that 6 cases of females with 22q11.2 deletion syndrome have been reported to have uterovaginal aplasia. […] DiGeorge syndrome patients without immunodeficiency may not be at any increased for infertility. However, in DiGeorge syndrome patients with immunodeficiency due a T-cell deficiency, it can be due to being athymic.

• #18 DiGeorge Syndrome: Practice Essentials, Background, Pathophysiology

  https://emedicine.medscape.com/article/886526-overview

  Estimates of the incidence of 22q11.2DS range from 1 per 4000 to 1 per 7000 births. These estimates are based on a few population-based screening studies done in the 1990s and early 2000s and the diagnoses based on FISH technology. Thus, smaller deletions would have been missed. True prevalence can only be determined by uniform newborn screening. […] Although 22q11.2DS is a congenital condition, the age at diagnosis is variable, being largely dependent on the severity and the types of associated birth defects. Thus, patients with more serious congenital cardiac defects or hypocalcemia are likely to be diagnosed in the neonatal period whereas those with only a submucous cleft palate and delayed speech, mild cardiac defects, normal immune function, or minimal facial anomalies are detected much later in childhood. Recurrent infections usually present in patients older than 3-6 months. […] Late diagnosis into adulthood continues to be reported, especially in persons with isolated mild symptoms. Prenatal diagnosis in fetuses with a congenital heart anomaly has been made frequently and should be offered to a pregnant woman at risk of carrying a fetus with this syndrome.

• #19 What You Should Know About 22q11.2 Deletion Syndrome – LifeLabs

  https://www.lifelabs.com/what-you-should-know-about-22q/

  This syndrome is caused by a missing piece of chromosome number 22, which affects the development of various organs and systems in the body. This genetic change can cause an array of health issues including congenital heart defects, immune deficiencies, hypocalcemia, palatal abnormalities, and developmental delays, and behavioral and learning differences. […] A diagnosis of 22q11.2 deletion syndrome is not always obvious during pregnancy or after the child is born. The average age of diagnosis after birth is 4 years old. Early prenatal screening for 22q11.2 deletion syndrome assists healthcare providers to offer treatment and management strategies that are meant to improve health outcomes for a child affected with the condition, starting at birth. […] Recent studies determined the prevalence of 22q11.2 deletion syndrome is approximately 1 in 1524, which was much higher than previously expected. This is even more common than cystic fibrosis (1/2,500). […] Microdeletions usually occur randomly and are not impacted by age or race of the pregnant individual. A small percentage of people inherit 22q from a parent. […] Microdeletions are more common than trisomy 21 (Down syndrome) in individuals younger than 28 years of age.

• #20

  https://link.springer.com/article/10.1007/s11882-023-01071-4

  This review focuses on immunologic findings, relationships among immunologic findings and associated conditions of autoimmunity and atopy, and management of immunologic disease in chromosome 22q11.2 deletion syndrome (22q11.2DS, historically known as DiGeorge syndrome). […] The implementation of assessment of T cell receptor excision circles (TRECs) in newborn screening has led to increased detection of 22q11.2 deletion syndrome. […] While not yet applied in clinical practice, cell-free DNA screening for 22q11.2DS also has the potential to improve early detection, which may benefit prompt evaluation and management. […] An understanding of the underlying causes of immunologic changes found in 22q11.2DS, and the progression and evolution of immunologic changes over the lifespan have expanded over time and with improved survival.

• #21

  https://link.springer.com/article/10.1007/s11882-023-01071-4

  This review focuses on immunologic findings, relationships among immunologic findings and associated conditions of autoimmunity and atopy, and management of immunologic disease in chromosome 22q11.2 deletion syndrome (22q11.2DS, historically known as DiGeorge syndrome). […] The implementation of assessment of T cell receptor excision circles (TRECs) in newborn screening has led to increased detection of 22q11.2 deletion syndrome. […] While not yet applied in clinical practice, cell-free DNA screening for 22q11.2DS also has the potential to improve early detection, which may benefit prompt evaluation and management. […] An understanding of the underlying causes of immunologic changes found in 22q11.2DS, and the progression and evolution of immunologic changes over the lifespan have expanded over time and with improved survival.

• #22 22q11.2 Deletion Syndrome – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1523/

  22q11.2DS is the most frequent chromosome microdeletion syndrome. In a population-based study in Sweden, the mean annual incidence was 14.1:100,000 live births. A US population-based study found an overall prevalence of about 1:6,000 in whites, blacks, and Asians, and 1:3,800 in Hispanics. […] Surveillance: Evaluation for nasal speech quality after language emergence; antibody studies to assess seroconversion; reevaluate immune status in childhood before administration of live vaccines; annual complete blood count and differential; serum ionized calcium every three to six months in infancy, every five years through childhood, every one to two years thereafter, preoperatively and postoperatively, and regularly during pregnancy; TSH and free T4 annually; ophthalmologic evaluation between age one and three years or as indicated; audiology evaluation in infancy, at preschool age, and in school age children; developmental assessments annually; annual clinical surveillance for scoliosis; dental examination every six months. […] Genetic counseling: 22q11.2DS is an autosomal dominant contiguous gene deletion syndrome. In 22q11.2DS caused by a 3.0 (2.54)-Mb deletion, the deletion is de novo in more than 90% of individuals and inherited from a heterozygous parent in about 10% of individuals.

• #23 22q11.2 Deletion Syndrome – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1523/

  22q11.2DS is the most frequent chromosome microdeletion syndrome. In a population-based study in Sweden, the mean annual incidence was 14.1:100,000 live births. A US population-based study found an overall prevalence of about 1:6,000 in whites, blacks, and Asians, and 1:3,800 in Hispanics. […] Surveillance: Evaluation for nasal speech quality after language emergence; antibody studies to assess seroconversion; reevaluate immune status in childhood before administration of live vaccines; annual complete blood count and differential; serum ionized calcium every three to six months in infancy, every five years through childhood, every one to two years thereafter, preoperatively and postoperatively, and regularly during pregnancy; TSH and free T4 annually; ophthalmologic evaluation between age one and three years or as indicated; audiology evaluation in infancy, at preschool age, and in school age children; developmental assessments annually; annual clinical surveillance for scoliosis; dental examination every six months. […] Genetic counseling: 22q11.2DS is an autosomal dominant contiguous gene deletion syndrome. In 22q11.2DS caused by a 3.0 (2.54)-Mb deletion, the deletion is de novo in more than 90% of individuals and inherited from a heterozygous parent in about 10% of individuals.

• #24 DiGeorge (22q11.2 deletion) syndrome: Management and prognosis – UpToDate

  https://www.uptodate.com/contents/digeorge-22q11-2-deletion-syndrome-management-and-prognosis

  DiGeorge syndrome (DGS) is a constellation of signs and symptoms associated with defective development of the pharyngeal pouch system. Deletions in chromosome 22q11.2 are present in most patients with DGS, as well as in patients with other similar syndromes, such as velocardiofacial syndrome (VCFS, also called Shprintzen syndrome). […] This topic reviews the management and prognosis of patients with DGS and 22qDS, with particular emphasis on immunologic aspects of the disease. The epidemiology, pathogenesis, clinical manifestations, and diagnosis of DGS and 22qDS are presented separately. […] The early childhood care of patients with DGS is generally best performed by a multidisciplinary team with specialists in the following fields in attendance: otolaryngology, plastic surgery, oral and maxillofacial surgery, immunology, cardiology, neurology, social work, dietary, speech pathology, genetics, and endocrinology. An initial evaluation by each specialist team is recommended to establish care, determine the degree of specific organ system involvement, and outline necessary surveillance monitoring and follow-up care. […] The acute management of neonates suspected of having DGS or 22qDS is focused upon evaluation and management of possible hypocalcemia and significant congenital cardiac defects and identification and treatment of infants with complete DGS, a form of severe combined immunodeficiency (SCID).

• #25 DiGeorge (22q11.2 deletion) syndrome: Management and prognosis – UpToDate

  https://www.uptodate.com/contents/digeorge-22q11-2-deletion-syndrome-management-and-prognosis

  DiGeorge syndrome (DGS) is a constellation of signs and symptoms associated with defective development of the pharyngeal pouch system. Deletions in chromosome 22q11.2 are present in most patients with DGS, as well as in patients with other similar syndromes, such as velocardiofacial syndrome (VCFS, also called Shprintzen syndrome). […] This topic reviews the management and prognosis of patients with DGS and 22qDS, with particular emphasis on immunologic aspects of the disease. The epidemiology, pathogenesis, clinical manifestations, and diagnosis of DGS and 22qDS are presented separately. […] The early childhood care of patients with DGS is generally best performed by a multidisciplinary team with specialists in the following fields in attendance: otolaryngology, plastic surgery, oral and maxillofacial surgery, immunology, cardiology, neurology, social work, dietary, speech pathology, genetics, and endocrinology. An initial evaluation by each specialist team is recommended to establish care, determine the degree of specific organ system involvement, and outline necessary surveillance monitoring and follow-up care. […] The acute management of neonates suspected of having DGS or 22qDS is focused upon evaluation and management of possible hypocalcemia and significant congenital cardiac defects and identification and treatment of infants with complete DGS, a form of severe combined immunodeficiency (SCID).

• #26 22q11.2 Deletion Syndrome – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1523/

  22q11.2DS is the most frequent chromosome microdeletion syndrome. In a population-based study in Sweden, the mean annual incidence was 14.1:100,000 live births. A US population-based study found an overall prevalence of about 1:6,000 in whites, blacks, and Asians, and 1:3,800 in Hispanics. […] Surveillance: Evaluation for nasal speech quality after language emergence; antibody studies to assess seroconversion; reevaluate immune status in childhood before administration of live vaccines; annual complete blood count and differential; serum ionized calcium every three to six months in infancy, every five years through childhood, every one to two years thereafter, preoperatively and postoperatively, and regularly during pregnancy; TSH and free T4 annually; ophthalmologic evaluation between age one and three years or as indicated; audiology evaluation in infancy, at preschool age, and in school age children; developmental assessments annually; annual clinical surveillance for scoliosis; dental examination every six months. […] Genetic counseling: 22q11.2DS is an autosomal dominant contiguous gene deletion syndrome. In 22q11.2DS caused by a 3.0 (2.54)-Mb deletion, the deletion is de novo in more than 90% of individuals and inherited from a heterozygous parent in about 10% of individuals.

• #27 Typical 22q11.2 deletion syndrome appears to confer a reduced risk of schwannoma | Genetics in Medicine

  https://www.nature.com/articles/s41436-021-01175-0

  The LZTR1 gene has been associated with schwannomatosis tumor predisposition and is located in a region that is deleted in the great majority (89%) of patients with 22q11.2 deletion syndrome (22q11.2DS). […] There were no reports of schwannoma in over 1,500 patients with 22q11.2DS. […] People with a large 22q11.2 deletion may have a reduced risk of developing a schwannoma compared to the general population. […] The 22q11.2 deletions occur between four low copy repeat regions, LCR22A, LCR22B, LCR22C, and LCR22D, varying in size from approximately 700 kilobases to three megabases. […] The major features of 22q11.2DS are immunodeficiency, palatal anomalies, hypoparathyroidism, and congenital heart disease (CHD). […] However, schwannomas have not been reported in people with this deletion and whole-gene deletions have not been reported in LZTR1-associated schwannomatosis.

• #28 Deletion Syndrome 22q11.2: A Systematic Review

  https://www.mdpi.com/2227-9067/9/8/1168

  22q11.2 deletion syndrome (DS 22q11.2) is a rare disease of genetic origin, caused by the loss of the q11.2 region of chromosome 22. It affects one in 4000 live newborns, and among the clinical manifestations that can occur in this syndrome are abnormalities in the parathyroid glands (producing calcium deficits), the palate, the heart and the thymus. It is also known as DiGeorge syndrome or velocardiofacial syndrome, among other names, depending on the clinical presentation of each individual. […] Of all the rare syndromes affecting the same chromosomal area, 22q11.2 deletion syndrome is the most prevalent. The vast majority of studies show that its incidence is one in 4000 live newborns, this number being the same for both sexes. […] Ninety percent of cases of DiGeorge syndrome are de novo, although some cases of autosomal dominant inheritance (8–28%) have been reported.

• #29 Deletion Syndrome 22q11.2: A Systematic Review

  https://www.mdpi.com/2227-9067/9/8/1168

  Therefore, adaptation to daily life of patients with this disease can be significantly affected. The degree of dependence in order to perform daily activities such as talking, due to malformations in the palate, and walking or doing sports normally, due to cardiac manifestations, highlight this aspect. […] 22q11.2 deletion syndrome is one of the most common microdeletion chromosomal syndromes in humans, but among the prevalence data described in the literature, there is some controversy due to the underdiagnosis that occurs. […] Most studies show that the prevalence of this syndrome is 1 per 4000 live newborns, although other articles indicate that it can vary between 1 per 2000 and 1 per 6395. […] In more than ninety percent of cases of DiGeorge syndrome, deletion occurs randomly during the development of the fetus, although cases of autosomal dominant inheritance are also found. […] Another factor to be considered is the premature mortality of individuals suffering from this deletion, since approximately 4% of children who suffer from it die between the ages of 3 and 4 months; in adults, it is a cause of premature death at around 40 years old.

• #30 22q11.2 Deletion Syndrome – GeneReviews® – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK1523/

  22q11.2DS is the most frequent chromosome microdeletion syndrome. In a population-based study in Sweden, the mean annual incidence was 14.1:100,000 live births. A US population-based study found an overall prevalence of about 1:6,000 in whites, blacks, and Asians, and 1:3,800 in Hispanics. […] Surveillance: Evaluation for nasal speech quality after language emergence; antibody studies to assess seroconversion; reevaluate immune status in childhood before administration of live vaccines; annual complete blood count and differential; serum ionized calcium every three to six months in infancy, every five years through childhood, every one to two years thereafter, preoperatively and postoperatively, and regularly during pregnancy; TSH and free T4 annually; ophthalmologic evaluation between age one and three years or as indicated; audiology evaluation in infancy, at preschool age, and in school age children; developmental assessments annually; annual clinical surveillance for scoliosis; dental examination every six months. […] Genetic counseling: 22q11.2DS is an autosomal dominant contiguous gene deletion syndrome. In 22q11.2DS caused by a 3.0 (2.54)-Mb deletion, the deletion is de novo in more than 90% of individuals and inherited from a heterozygous parent in about 10% of individuals.

• #31 DiGeorge syndrome (22q11.2 deletion syndrome) – The Oncofertility Consortium

  https://oncofertility.msu.edu/non-malignant-conditions/digeorge-syndrome-22q11-2-deletion-syndrome/

  This distinction is important with respect to thymus transplantation because T-cells in an atypical complete DiGeorge anomaly can reject transplants. […] For individuals with complete DiGeorge anomaly, transplantation of allogeneic postnatal cultured thymus has been successfully studied. Thymus transplants in both typical and atypical complete DiGeorge anomalies resulted in functional immune reconstitution. […] Families of children with DiGeorge syndrome who require transplantation should be informed of fertility preservation options prior to therapy initiation, allowing them to fully consider the options available for their child. […] Once a mutation is present in either a male or female, there is a 50% chance for an affected pregnancy. Although prenatal testing is available, this can pose very difficult decisions for parents whom have an affected pregnancy, as the topic of termination is a controversial one.

• #32 DiGeorge syndrome (22q11 deletion)

  https://www.nhs.uk/conditions/digeorge-syndrome/

  DiGeorge syndrome is a condition present from birth that can cause a range of lifelong problems, including heart defects and learning difficulties. […] DiGeorge syndrome is caused by a problem with a person’s genes, called 22q11 deletion. […] It’s often diagnosed soon after birth with a blood test to check for the genetic fault. […] In about 9 in 10 cases (90%), the bit of DNA was missing from the egg or sperm that led to the pregnancy. […] In these cases, there’s usually no family history of DiGeorge syndrome and the risk of it happening again to other children is very small. […] If neither parent has DiGeorge syndrome, the risk of having another child with it is thought to be less than 1 in 100 (1%). […] Speak to a GP if you’re planning a pregnancy and you have a family history of DiGeorge syndrome, or you have a child with it.

• #33 DiGeorge syndrome (22q11.2 deletion syndrome) – The Oncofertility Consortium

  https://oncofertility.msu.edu/non-malignant-conditions/digeorge-syndrome-22q11-2-deletion-syndrome/

  DiGeorge Syndrome (22q11.2 deletion syndrome), which is also referred to as velocardiofacial syndrome, is one of the most common genetic syndromes with a prevalence of 1:4000. With approximately 2.5 million children born each year in the United States, it is estimated that around 500 to 750 new cases of DiGeorge Syndrome will be identified yearly. […] As in all microdeletion syndromes, inheritance is autosomal dominant, however most cases of DiGeorge syndrome result from a de novo microdeletion. […] DiGeorge Syndrome is commonly diagnosed prenatally. Current indications for prenatal testing for 22q11.2 include a previous child with a 22q11.2 deletion; even though this recurrence risk may be low there is a possibility for germline mosaicism, an affected parent with a 22q11.2 deletion or a visible congenital heart defect seen on a prenatal ultrasound.

• #34 DiGeorge syndrome – Wikipedia

  https://en.wikipedia.org/wiki/DiGeorge_syndrome

  DiGeorge syndrome is estimated to affect between one in 2000 and one in 4000 live births. 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. It is one of the most common causes of intellectual disability due to a genetic deletion syndrome. […] The number of people affected has been expected to rise because of multiple reasons: (1) surgical and medical advances, an increasing number of people are surviving heart defects associated with the syndrome. These individuals are in turn having children. The chances of a person with DiGeorge syndrome having an affected child is 50% for each pregnancy; (2) Parents who have affected children, but who were unaware of their own genetic conditions, are now being diagnosed as genetic testing become available; (3) Molecular genetics techniques such as FISH (fluorescence in situ hybridization) have limitations and have not been able to detect all 22q11.2 deletions. Newer technologies have been able to detect these atypical deletions.

• #35 Deletion Syndrome 22q11.2: A Systematic Review

  https://www.mdpi.com/2227-9067/9/8/1168

  Therefore, adaptation to daily life of patients with this disease can be significantly affected. The degree of dependence in order to perform daily activities such as talking, due to malformations in the palate, and walking or doing sports normally, due to cardiac manifestations, highlight this aspect. […] 22q11.2 deletion syndrome is one of the most common microdeletion chromosomal syndromes in humans, but among the prevalence data described in the literature, there is some controversy due to the underdiagnosis that occurs. […] Most studies show that the prevalence of this syndrome is 1 per 4000 live newborns, although other articles indicate that it can vary between 1 per 2000 and 1 per 6395. […] In more than ninety percent of cases of DiGeorge syndrome, deletion occurs randomly during the development of the fetus, although cases of autosomal dominant inheritance are also found. […] Another factor to be considered is the premature mortality of individuals suffering from this deletion, since approximately 4% of children who suffer from it die between the ages of 3 and 4 months; in adults, it is a cause of premature death at around 40 years old.

• #36 DiGeorge syndrome (22q11 deletion)

  https://www.nhs.uk/conditions/digeorge-syndrome/

  There’s currently no cure for DiGeorge syndrome. […] Children and adults with the condition will be closely monitored to check for problems, and these can be treated as they happen, if needed. […] Most children survive into adulthood. […] It’s important to attend regular check-ups so that any problems can be found and treated early.

• #37 Deletion Syndrome 22q11.2: A Systematic Review

  https://www.mdpi.com/2227-9067/9/8/1168

  Therefore, adaptation to daily life of patients with this disease can be significantly affected. The degree of dependence in order to perform daily activities such as talking, due to malformations in the palate, and walking or doing sports normally, due to cardiac manifestations, highlight this aspect. […] 22q11.2 deletion syndrome is one of the most common microdeletion chromosomal syndromes in humans, but among the prevalence data described in the literature, there is some controversy due to the underdiagnosis that occurs. […] Most studies show that the prevalence of this syndrome is 1 per 4000 live newborns, although other articles indicate that it can vary between 1 per 2000 and 1 per 6395. […] In more than ninety percent of cases of DiGeorge syndrome, deletion occurs randomly during the development of the fetus, although cases of autosomal dominant inheritance are also found. […] Another factor to be considered is the premature mortality of individuals suffering from this deletion, since approximately 4% of children who suffer from it die between the ages of 3 and 4 months; in adults, it is a cause of premature death at around 40 years old.

• #38 DiGeorge Syndrome – StatPearls – NCBI Bookshelf

  https://www.ncbi.nlm.nih.gov/books/NBK549798/

  DiGeorge syndrome (DGS) is a congenital disorder with a broad phenotypic presentation, which results predominantly from the microdeletion of chromosome 22 at a location known as 22q11.2. […] Microdeletion of 22q11.2 is the most common microdeletion syndrome, affecting approximately 0.1% of fetuses. The rate of 22q11.2 microdeletion in live births occurs at an estimated rate of 1 in 4000 to 6000. […] The prevalence of 22q11.2 microdeletion may be more common than supported in literature due to several factors. Firstly, not every patient with this microdeletion presents with several craniofacial abnormalities and hence does not undergo genetic testing. African-American children, for example, may not have the craniofacial abnormalities characteristic of DGS in other races. Secondly, access to healthcare, specifically genetic testing, is not available to every individual that might have the microdeletion, regardless of the severity of craniofacial dysmorphism. Further population studies are therefore needed to fully understand the extent and spectrum of 22q11.2 microdeletions in different populations.

• #39 DiGeorge Syndrome (Deletion 22q11.2) – FL Health CHARTS – Florida Department of Health

  https://www.flhealthcharts.gov/ChartsDashboards/rdPage.aspx?rdReport=NonVitalIndNoGrpBD.DataViewer&cid=21

  Deletion 22q11.2 is a chromosomal abnormality resulting from genomic microdeletions within a critical region on the long arm of chromosome 22 (22q11.2) […] Identifying babies born with birth defects and collecting information about them is a first step in preventing birth defects. Florida is among the many states with a birth defects tracking system. This data, as part of the national picture, helps us find out where and when birth defects occur and who they affect. […] In 2016-20, the rate per 10,000 live births with DiGeorge Syndrome (Deletion 22q11.2) in Alachua County, could not be generated because there were too few cases compared to 0.5 statewide. […] *Rate = Number of cases per 10,000 live births. Rates are calculated if there are 5 or more cases. […] As suggested by the National Birth Defects Prevention Networks Guidelines for Conducting Birth Defects Surveillance, for small numbers of cases (30 or fewer), the Poisson distribution was used to generate confidence intervals. When the case count was greater than thirty, confidence intervals are calculated using the normal approximation. Confidence intervals for 2008-2010 are 95%. All other years are 99%.

• #40 Practical guidelines for managing adults with 22q11.2 deletion syndrome | Genetics in Medicine

  https://www.nature.com/articles/gim2014175

  Regular investigations including measurements of pH-corrected ionized calcium, magnesium, parathyroid hormone, and creatinine concentrations are recommended. […] Genetic counseling is an essential component in the ongoing management of all patients with 22q11.2DS and concerned relatives at multiple time points, from late adolescence through adulthood. […] More information about adult outcomes in 22q11.2DS is urgently needed to assist accurate genetic counseling and to improve care and service planning.

• #41 DiGeorge syndrome (22q11 deletion)

  https://www.nhs.uk/conditions/digeorge-syndrome/

  There’s currently no cure for DiGeorge syndrome. […] Children and adults with the condition will be closely monitored to check for problems, and these can be treated as they happen, if needed. […] Most children survive into adulthood. […] It’s important to attend regular check-ups so that any problems can be found and treated early.

• #42

  https://link.springer.com/article/10.1007/s11882-023-01071-4

  This recent article provides guidelines for initial and longitudinal assessment of immunologic status in 22q11.2DS. […] This article details persistent immunologic aberrations in a subset of patients with 22q11.2DS, which emphasizes the role of expert immunologic evaluation and the importance of continued monitoring. […] This article provides systems-based guidance on clinical management of patients with 22q11.2DS.

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