Materiały źródłowe

• #1 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. […] This activity outlines the diagnosis, evaluation, treatment, and management of patients with DGS, and highlights the role of the interprofessional team in managing patients with this condition. […] DGS is one of several syndromes that has historically grouped under a bigger umbrella called 22q11 deletion syndromes, which include Shprintzen-Goldberg syndrome, velocardiofacial syndrome, Cayler cardiofacial syndrome, Sedlackova syndrome, conotruncal anomaly face syndrome, and DGS. […] Current literature supports the use of the names of these syndromes interchangeably. […] A detailed history and physical is vital in the diagnosis and assessment of DiGeorge syndrome.

• #2 22q11.2 deletion syndrome: MedlinePlus GeneticsLock

  https://medlineplus.gov/genetics/condition/22q112-deletion-syndrome/

  22q11.2 deletion syndrome (which is also known by several other names, listed below) is a disorder caused by the deletion of a small piece of chromosome 22. […] Because the signs and symptoms of 22q11.2 deletion syndrome are so varied, different groupings of features were once described as separate conditions. Doctors named these conditions DiGeorge syndrome, velocardiofacial syndrome (also called Shprintzen syndrome), and conotruncal anomaly face syndrome. […] Genetic Testing Registry: DiGeorge syndrome. […] The clinical, immunological, and molecular spectrum of chromosome 22q11.2 deletion syndrome and DiGeorge syndrome.

• #3 DiGeorge syndrome – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/947

  DiGeorge syndrome (also known as 22q11.2 deletion syndrome) predominantly results from a microdeletion in chromosome 22, which disrupts the development of the pharyngeal arches and pouches, and may also cause neurological, immunological, endocrinological, or cognitive deficits. […] Presenting signs and symptoms depend on age at diagnosis and the organ system affected. […] DiGeorge syndrome, also known as 22q11.2 deletion syndrome (22q11.2DS) or velocardiofacial syndrome, is a condition that describes characteristic, but variable, morphological and neurological features that result from the deletion of one copy of 22q11.2. […] The classical presentation is a triad of cardiac anomalies, hypoplastic thymus, and hypocalcaemia (resulting from parathyroid hypoplasia). […] The deletion causes a reduction in TBX1, a key transcription factor for development of the pharyngeal arches.

• #4 DiGeorge Syndrome Workup: Approach Considerations, Genetic Studies, Indications for Deletion Screening

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

  Indications for 22q11.2DS screening depend on the clinical picture. […] The 22q11.2 deletion occurs in 20-30% of newborns with isolated conotruncal cardiac malformations. […] The signs and symptoms suggesting 22q11.2DS also depend on the patients age at evaluation. […] Generally, however, 2 or more of the following clinical findings should prompt a laboratory confirmation of the diagnosis: Conotruncal heart anomalies, Palatal defects, Hypernasal speech, Nasopharyngeal reflux, Developmental/learning disabilities, Behavioral/psychiatric problems, Immunodeficiency, Hypocalcemia, Typical facial features. […] Hypocalcemia may occur in 22q11.2DS (chromosome 22q11.2 deletion syndrome; DiGeorge syndrome [DGS]) secondary to hypoparathyroidism. […] Perform an absolute lymphocyte count in the peripheral blood.

• #5 Presentation: Clinical suspicion of 22q11.2 deletion syndrome — In the Clinic

  https://www.genomicseducation.hee.nhs.uk/genotes/in-the-clinic/clinical-suspicion-of-22q112-deletion-syndrome/

  22q11.2 deletion syndrome (also known as DiGeorge syndrome and velocardiofacial syndrome) is a genetic condition caused by a microdeletion at chromosome position 22q11.2. Clinical features commonly include congenital heart anomalies, palatal defects, speech and hearing problems, developmental delay, mild intellectual disability and hypocalcaemia. […] This combination of clinical features raises a suspicion of 22q11.2 deletion syndrome. […] Consider genomic testing for 22q11.2 deletion syndrome in individuals with: tetralogy of Fallot; interrupted aortic arch; truncus arteriosus; or other forms of congenital heart disease and/or disorder of calcium homeostasis. […] You may wish to test for 22q11.2 deletion syndrome in the absence of CHD if a child presents with some of the following features: Palatal abnormalities: including velopharyngeal insufficiency, cleft palate (typically submucosal), bifid uvula, hypernasal speech and dysphagia.

• #6 DiGeorge syndrome (22q11.2 deletion syndrome) – Symptoms and causes – Mayo Clinic

  https://www.mayoclinic.org/diseases-conditions/digeorge-syndrome/symptoms-causes/syc-20353543

  Symptoms of DiGeorge syndrome can vary based on what body systems are affected and the severity of the problems. […] Healthcare professionals may suspect 22q11.2 deletion syndrome: At birth. If a severe heart problem, cleft palate or other signs typical of 22q11.2 deletion syndrome are clear at birth, tests likely will be done before your child leaves the hospital. […] Illnesses or conditions that are typical of 22q11.2 deletion syndrome may become clear over time. Your child’s healthcare professional may see issues during regularly scheduled well-baby visits or annual checkups.

• #7 22q11.2 Deletion Syndrome (DiGeorge Syndrome) (for Parents) | Nemours KidsHealth

  https://kidshealth.org/en/parents/22q11-deletion.html

  22q11.2 deletion syndrome is a genetic condition that some babies are born with. […] Doctors do genetic tests to confirm a diagnosis of 22q. This may happen: […] If a pregnant woman has a family history of 22q or a prenatal test shows the developing baby could have 22q, the doctor will usually do such tests as: […] If a new baby shows signs of 22q, the doctor will examine the baby and ask about any medical conditions that run in the family. […] The doctor may order tests, such as: […] Some people with 22q are diagnosed when they are older through genetic testing.

• #8 DiGeorge Syndrome Workup: Approach Considerations, Genetic Studies, Indications for Deletion Screening

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

  Laboratory studies used in the evaluation of 22q11.2DS include the array comparative genomic hybridization (aCGH), fluorescent in situ hybridization (FISH), TBX1 gene sequencing or TBX1 deletion/duplication analysis, and multiplex ligation-dependent probe amplification (MLPA). […] Array comparative genomic hybridization (aCGH) is the preferable and most appropriate test for detecting the 22q11.2 deletion. […] Fluorescent in situ hybridization (FISH) is readily available with chromosome analysis but smaller deletions may not be detectable. […] Request TBX1 gene sequencing or TBX1 deletion/duplication analysis when aCGH does not show a deletion yet the syndrome is clinically suspected. […] Multiplex ligation-dependent probe amplification (MLPA) appears to be equivalent to the FISH technique and can be used for rapid diagnosis when the syndrome is suspected clinically or for confirmation of the deletion after aCGH analysis.

• #9 22q11.2 Deletion Syndrome – GeneReviews® – NCBI Bookshelf

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

  Individuals with 22q11.2 deletion syndrome (22q11.2DS) can present with a wide range of features that are highly variable, even within families. […] The diagnosis of 22q11.2DS is established by identification of a heterozygous deletion at chromosome 22q11.2 on chromosomal microarray analysis or other genomic analyses. […] The diagnosis of 22q11.2DS is established in a proband by identification of a heterozygous deletion at chromosome 22q11.2. […] Genomic testing methods that determine the copy number of sequences can include chromosomal microarray (CMA) or targeted deletion analysis. […] The 22q11.2 recurrent deletion cannot be identified by routine analysis of G-banded chromosomes or other conventional cytogenetic banding techniques. […] CMA using oligonucleotide or SNP arrays can detect the recurrent deletion in a proband. […] Targeted deletion analysis methods can include FISH, quantitative PCR (qPCR), and multiplex ligation-dependent probe amplification (MLPA) as well as other targeted quantitative methods. […] Testing of parental samples is important in determining recurrence risk.

• #10 DiGeorge syndrome – Wikipedia

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

  DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. […] Diagnosis is suspected based on the symptoms and confirmed by genetic testing. […] Diagnosis of DiGeorge syndrome can be difficult due to the number of potential symptoms and the variation in phenotypes between individuals. It is suspected in patients with one or more signs of the deletion. In these cases a diagnosis of 22q11.2DS is confirmed by observation of a deletion of part of the long arm (q) of chromosome 22, region 1, band 1, sub-band 2. Genetic analysis is normally performed using fluorescence in situ hybridization (FISH), which is able to detect microdeletions that standard karyotyping (e.g. G-banding) miss. […] Newer methods of analysis include multiplex ligation-dependent probe amplification assay (MLPA) and quantitative polymerase chain reaction (qPCR), both of which can detect atypical deletions in 22q11.2 that are not detected by FISH. […] Fewer than 5% of individuals with symptoms of DiGeorge syndrome have normal routine cytogenetic studies and negative FISH testing. In these cases, atypical deletions are the cause.

• #11 DiGeorge Syndrome – StatPearls – NCBI Bookshelf

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

  A clinician makes a definitive diagnosis of DGS in individuals with a microdeletion of chromosome 22 at the 22q11.2 locus. […] Microdeletions responsible for DGS are therefore detected by fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), single nucleotide polymorphism (SNP) array, comparative genomic hybridization (CGH) microarray, or quantitative polymerase chain reaction (qPCR). […] The availability and cost of these techniques can delay diagnosis, particularly in resource-poor settings. […] It is important to note that the broad spectrum of disease severity makes the evaluation of DGS particularly challenging. […] Diagnosis and management can be challenging, and the interprofessional team can provide a collaborative effort to reduce morbidity and mortality associated with DGS.

• #12 Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1098-1

  The clinical heterogeneity of the 22q11.2 Deletion Syndrome (22q11.2DS OMIM, #188400 and #192430) is a universal challenge leading to diagnostic delay. […] The diagnosis is based on the detection of the typical deletion in the 22q11.2 region, which comprises from 1.5Mb to 3.0Mb in size, without recognizable phenotypic differences between them. […] In the mid-1990s, the Fluorescence in situ Hybridization (FISH) technique using a locus-specific probe for the 22q11.2 chromosome region was described, and for many years it has been considered as the gold standard for detecting this microdeletion. […] A negative FISH result does not totally exclude the diagnosis of 22q11.2DS, since minor or atypical deletions may occur within the typically deleted region. […] More recently, methods for genome-wide analysis have achieved considerable visibility in the field of genetics, and currently, the chromosomal microarray analysis (CMA) is the first-tier technique for the investigation of the deletion in 22q11.2.

• #13 DiGeorge syndrome – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/947

  1st investigations to order include serum calcium, serum intact PTH, T-cell count, chromosomal microarray analysis, multiplex ligation-dependent probe amplification, immune-specific titres (if previously immunised), FBC, TSH, free T4, chest x-ray, ECG, and serum immunoglobulins. […] Investigations to consider include fluorescence in situ hybridisation, karyotype, echocardiogram, renal and bladder ultrasound, audiometry, dental and palatal evaluations, and ophthalmology evaluation.

• #14 DiGeorge Syndrome Workup: Approach Considerations, Genetic Studies, Indications for Deletion Screening

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

  Laboratory studies used in the evaluation of 22q11.2DS include the array comparative genomic hybridization (aCGH), fluorescent in situ hybridization (FISH), TBX1 gene sequencing or TBX1 deletion/duplication analysis, and multiplex ligation-dependent probe amplification (MLPA). […] Array comparative genomic hybridization (aCGH) is the preferable and most appropriate test for detecting the 22q11.2 deletion. […] Fluorescent in situ hybridization (FISH) is readily available with chromosome analysis but smaller deletions may not be detectable. […] Request TBX1 gene sequencing or TBX1 deletion/duplication analysis when aCGH does not show a deletion yet the syndrome is clinically suspected. […] Multiplex ligation-dependent probe amplification (MLPA) appears to be equivalent to the FISH technique and can be used for rapid diagnosis when the syndrome is suspected clinically or for confirmation of the deletion after aCGH analysis.

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

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

  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. […] 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. It includes the determination of the deletion breakpoints in a quantitative method and without the need of pedigree analysis or parental samples. If a patient presents with phenotypic characteristics and no mutation is found through FISH analysis or MLPA, there is a possibility of a point mutation in TBX1, as stated above, which is too small to be picked up on via FISH.

• #16 Orphanet: 22q11.2 deletion syndrome

  https://www.orpha.net/en/disease/detail/567

  22q11.2 deletion syndrome shows a variable clinical phenotype that can range from mild to severe. […] Diagnosis is suspected upon clinical examination and confirmed by detection of the 22q11.2 deletion, using fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), array comparative genomic hybridization (aCGH) or genome-wide SNP (single nucleotide polymorphism) microarrays. […] Prenatal diagnosis is possible in familial cases by chorionic villus sampling or amniocentesis, and in pregnancies where associated anomalies have been noted by fetal echocardiography. Preimplantation genetic diagnosis is possible.

• #17 DiGeorge Syndrome – StatPearls – NCBI Bookshelf

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

  A clinician makes a definitive diagnosis of DGS in individuals with a microdeletion of chromosome 22 at the 22q11.2 locus. […] Microdeletions responsible for DGS are therefore detected by fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), single nucleotide polymorphism (SNP) array, comparative genomic hybridization (CGH) microarray, or quantitative polymerase chain reaction (qPCR). […] The availability and cost of these techniques can delay diagnosis, particularly in resource-poor settings. […] It is important to note that the broad spectrum of disease severity makes the evaluation of DGS particularly challenging. […] Diagnosis and management can be challenging, and the interprofessional team can provide a collaborative effort to reduce morbidity and mortality associated with DGS.

• #18 DiGeorge Syndrome Workup: Approach Considerations, Genetic Studies, Indications for Deletion Screening

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

  Newborn screening of severe combined immunodeficiency (SCID), which detects TREC levels in dried blood spots, is likely to identify 22q11.2DS as decreased TREC levels. […] Flow cytometry is performed in vitro to estimate the number of T cells in peripheral blood and their proliferative responses to mitogens and antigens. […] Prenatal diagnostic testing for chromosome 22q11.2DS can be offered to at-risk couples. […] Any of the following are selected based on the clinical situation: FISH using commercial probes, FastFISH, Multiplex ligation-dependent probe amplification (MLPA) single-tube assay, High-resolution single-nucleotide polymorphism (SNP) genotyping assay, Chromosomal microarray analysis (CMA). […] In a skin biopsy study, Selim et al concluded that dyskeratotic keratinocytes, satellite cell necrosis, and parakeratotic scale with neutrophils characterize the cutaneous rash seen in patients with a form of complete DGS known as atypical complete DGS.

• #19 Orphanet: 22q11.2 deletion syndrome

  https://www.orpha.net/en/disease/detail/567

  22q11.2 deletion syndrome shows a variable clinical phenotype that can range from mild to severe. […] Diagnosis is suspected upon clinical examination and confirmed by detection of the 22q11.2 deletion, using fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), array comparative genomic hybridization (aCGH) or genome-wide SNP (single nucleotide polymorphism) microarrays. […] Prenatal diagnosis is possible in familial cases by chorionic villus sampling or amniocentesis, and in pregnancies where associated anomalies have been noted by fetal echocardiography. Preimplantation genetic diagnosis is possible.

• #20 22q11.2 Deletion Syndrome (DiGeorge Syndrome) | Boston Children’s Hospital

  https://www.childrenshospital.org/conditions/22q112-deletion-syndrome

  22q11.2 deletion syndrome is a genetic condition that causes a combination of medical problems. […] If your child’s doctor suspects 22q11.2 deletion syndrome based on symptoms, he or she will refer you to a geneticist who may suggest a genetic test to diagnose the condition. […] In some cases, particularly if your child has a heart problem or a cleft palate, diagnosis will be made in infancy. […] If your child’s medical history and physical exam are very suggestive of 22q11.2 deletion but the deletion testing is normal, your doctor may suggest TBX1 gene sequencing. […] Boston Children’s Hospital provides a wide range of diagnostic, treatment, consultation, and advocacy services for children with 22q11.2 deletion syndrome. […] The doctor may also recommend one or more of the following tests to rule out other conditions or to check for specific problems associated with 22q11 deletion: Echocardiogram (cardiac ultrasound), Kidney ultrasound, X-rays, Blood tests.

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

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

  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. […] 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. It includes the determination of the deletion breakpoints in a quantitative method and without the need of pedigree analysis or parental samples. If a patient presents with phenotypic characteristics and no mutation is found through FISH analysis or MLPA, there is a possibility of a point mutation in TBX1, as stated above, which is too small to be picked up on via FISH.

• #22 DiGeorge syndrome – Wikipedia

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

  DiGeorge syndrome, also known as 22q11.2 deletion syndrome, is a syndrome caused by a microdeletion on the long arm of chromosome 22. […] Diagnosis is suspected based on the symptoms and confirmed by genetic testing. […] Diagnosis of DiGeorge syndrome can be difficult due to the number of potential symptoms and the variation in phenotypes between individuals. It is suspected in patients with one or more signs of the deletion. In these cases a diagnosis of 22q11.2DS is confirmed by observation of a deletion of part of the long arm (q) of chromosome 22, region 1, band 1, sub-band 2. Genetic analysis is normally performed using fluorescence in situ hybridization (FISH), which is able to detect microdeletions that standard karyotyping (e.g. G-banding) miss. […] Newer methods of analysis include multiplex ligation-dependent probe amplification assay (MLPA) and quantitative polymerase chain reaction (qPCR), both of which can detect atypical deletions in 22q11.2 that are not detected by FISH. […] Fewer than 5% of individuals with symptoms of DiGeorge syndrome have normal routine cytogenetic studies and negative FISH testing. In these cases, atypical deletions are the cause.

• #23 Prenatal diagnosis of the 22q11.2 deletion syndrome | Genetics in Medicine

  https://www.nature.com/articles/gim20014

  The development of fluorescence in situ hybridization (FISH)- and polymerase chain reaction (PCR)-based assays for the detection of deletions of chromosome 22q11.2 has enabled the medical community to offer couples at risk prenatal diagnostic testing. […] Current indications for testing include a previous child with a 22q11.2 deletion or DiGeorge/velocardiofacial syndrome, an affected parent with a 22q11.2 deletion, and in utero detection of a conotruncal cardiac defect. […] The majority of patients with DiGeorge and velocardiofacial syndrome (DGS/VCFS) have large interstitial deletions of chromosomal region 22q11.2. […] Current indications for prenatal testing for the 2q11.2 deletion include (1) a previous child with a 22q11.2 deletion or DiGeorge/velocardiofacial syndrome, (2) an affected parent with a 22q11.2 deletion, and (3) in utero detection of a fetus with a conotruncal cardiac defect.

• #24 DiGeorge syndrome (22q11 deletion)

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

  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. […] 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. […] They may refer you for a genetic test and talk about your level of risk and discuss your options. […] having a blood test to check if you or your partner carry the genetic problem that causes DiGeorge syndrome […] having tests during pregnancy (chorionic villus sampling or amniocentesis) to check if your baby has the genetic problem that causes the condition although this cannot show how severely your child will be affected […] pre-implantation genetic diagnosis a type of IVF where eggs are fertilised in a laboratory and embryos are tested for genetic problems before they’re implanted in the womb (this is not always available on the NHS).

• #25 Prenatal diagnosis of the 22q11.2 deletion syndrome | Genetics in Medicine

  https://www.nature.com/articles/gim20014

  Since the 22q11.2 deletion has been shown to be one of the most commonly recognized causes of conotruncal cardiac defects, testing for the 22q11.2 deletion should be considered, in addition to a fetal karyotype, when a cardiac defect is detected in utero by fetal echocardiography. […] Several reports have demonstrated the utility of antenatal testing for the 22q11.2 deletion when a congenital heart defect is identified in utero. […] Prenatal detection of a 22q11.2 deletion has been reported in a fetus with polyhydramnios and tetralogy of Fallot. […] The most widely utilized method for detecting the 22q11.2 deletion is FISH with probes from the DiGeorge chromosomal region (DGCR). […] Prenatal detection of the 22q11.2 deletion is usually performed on metaphase chromosomes from either cultured amniocytes obtained by amniocentesis after 15 weeks gestation or cultured chorionic villi obtained by CVS at 10-12 weeks gestation.

• #26 DiGeorge Syndrome (22q11.2 Deletion Syndrome): What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21182-digeorge-syndrome

  DiGeorge syndrome can be detected prenatally based upon prenatal ultrasound results and amniocentesis. […] If not detected prior to delivery, your healthcare providers will likely diagnose DiGeorge syndrome soon after your child is born. They may request special tests if they suspect the condition based on symptoms such as seizures, unique facial characteristics or blood tests that show low calcium levels. […] Your healthcare provider will review your family medical history and the following tests to diagnose 22q11.2 deletion syndrome: Genetic testing: Your provider will study a small sample of blood from your newborn to detect genetic abnormalities. […] Imaging tests: X-ray and CT scan tests provide images of the inside of your child’s body. The images help identify growth abnormalities in your child’s heart and other organs. […] Physical exam: Providers examine your child’s face, ears and eyes for characteristics of the condition.

• #27 DiGeorge Syndrome Diagnosis & Treatment | Cardinal Glennon

  https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/fetal-conditions-we-treat/genetic-syndromes/digeorge-syndrome-22q112-deletion-syndrome

  22q11.2 DS has a wide array of symptoms that can affect different organ systems. […] When you visit the SSM Health Cardinal Glennon St. Louis Fetal Care Institute with a presumed or confirmed diagnosis of DiGeorge Syndrome in your baby, you can meet with a team of experts who can provide information about your baby’s diagnosis. […] A probable 22q11.2 DS can be discovered prenatally through: Amniocentesis, Genetic screening, Prenatal ultrasound. […] An amniocentesis can confirm a diagnosis before birth. Diagnosis can also be made after birth, typically through blood testing. […] Signs of a congenital heart defect, cleft palate, or other defect on a prenatal ultrasound also increase the possibility that a baby has this condition. […] Because of the complex nature of 22q11.2 DS, babies may face medical challenges during delivery and in the newborn period, which is why it is recommended that they be delivered at a hospital with the resources to handle their unique needs.

• #28 Prenatal diagnosis of the 22q11.2 deletion syndrome | Genetics in Medicine

  https://www.nature.com/articles/gim20014

  Once a conotruncal cardiac defect with or without associated anomalies has been identified, deletion testing is recommended. […] Prenatal testing for the 22q11.2 deletion should be offered to couples based on their family history of a previous child with the deletion or features of DGS/VCFS, a parent with the deletion, or when a conotruncal cardiac defect is identified antenatally. […] When a deletion is detected, couples benefit from post-test counseling to review the phenotypic variability, the implications of having a child with the 22q11.2 deletion, and the current testing limitations.

• #29 DiGeorge Syndrome (22q11.2 Deletion Syndrome): What It Is, Symptoms & Treatment

  https://my.clevelandclinic.org/health/diseases/21182-digeorge-syndrome

  DiGeorge syndrome can be detected prenatally based upon prenatal ultrasound results and amniocentesis. […] If not detected prior to delivery, your healthcare providers will likely diagnose DiGeorge syndrome soon after your child is born. They may request special tests if they suspect the condition based on symptoms such as seizures, unique facial characteristics or blood tests that show low calcium levels. […] Your healthcare provider will review your family medical history and the following tests to diagnose 22q11.2 deletion syndrome: Genetic testing: Your provider will study a small sample of blood from your newborn to detect genetic abnormalities. […] Imaging tests: X-ray and CT scan tests provide images of the inside of your child’s body. The images help identify growth abnormalities in your child’s heart and other organs. […] Physical exam: Providers examine your child’s face, ears and eyes for characteristics of the condition.

• #30 DiGeorge syndrome – Symptoms, diagnosis and treatment | BMJ Best Practice

  https://bestpractice.bmj.com/topics/en-gb/947

  1st investigations to order include serum calcium, serum intact PTH, T-cell count, chromosomal microarray analysis, multiplex ligation-dependent probe amplification, immune-specific titres (if previously immunised), FBC, TSH, free T4, chest x-ray, ECG, and serum immunoglobulins. […] Investigations to consider include fluorescence in situ hybridisation, karyotype, echocardiogram, renal and bladder ultrasound, audiometry, dental and palatal evaluations, and ophthalmology evaluation.

• #31 22q11.2 Deletion Syndrome: Diagnosis and Treatment

  https://www.massgeneral.org/children/22q11/diagnosis-treatment

  22q11.2 Deletion Syndrome, or 22q11.2DS, can be diagnosed with a blood test to look for the deletion. It may be diagnosed with blood tests such as a DNA probe (FISH test), microarray or MLPA test. […] Your child might have one or more of the following tests after diagnosis, depending on their needs and symptoms: Echocardiogram and EKG (tests to check the hearts rate and rhythm), Kidney ultrasound, Testing of the immune system, thyroid, calcium levels, hearing and vision.

• #32 DiGeorge Syndrome Workup: Approach Considerations, Genetic Studies, Indications for Deletion Screening

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

  Newborn screening of severe combined immunodeficiency (SCID), which detects TREC levels in dried blood spots, is likely to identify 22q11.2DS as decreased TREC levels. […] Flow cytometry is performed in vitro to estimate the number of T cells in peripheral blood and their proliferative responses to mitogens and antigens. […] Prenatal diagnostic testing for chromosome 22q11.2DS can be offered to at-risk couples. […] Any of the following are selected based on the clinical situation: FISH using commercial probes, FastFISH, Multiplex ligation-dependent probe amplification (MLPA) single-tube assay, High-resolution single-nucleotide polymorphism (SNP) genotyping assay, Chromosomal microarray analysis (CMA). […] In a skin biopsy study, Selim et al concluded that dyskeratotic keratinocytes, satellite cell necrosis, and parakeratotic scale with neutrophils characterize the cutaneous rash seen in patients with a form of complete DGS known as atypical complete DGS.

• #33 DiGeorge or 22q11.2 deletion syndrome | Immune Deficiency Foundation

  https://primaryimmune.org/understanding-primary-immunodeficiency/types-of-pi/digeorge-or-22q112-deletion-syndrome

  DiGeorge syndrome, most frequently caused by a deletion at 22q11.2, is a PI caused by abnormal migration and development of certain cells and tissues during fetal development. […] The diagnosis of DGS is made on the basis of findings that are present at birth, or develop soon after birth, in particular, heart defects and low calcium. Babies with heart defects are often screened for 22q11.2DS by a blood test, commonly a FISH assay, a method using a fluorescent signal to visualize the presence of the genetic region on one of two copies on chromosome 22. Other newer tests are available to analyze gene variants and chromosome deletions to make a diagnosis of DGS. […] Newborn screening (a drop of blood from a heel stick) for severe combined immunodeficiency (SCID) may identify a child as having low T cells. If the test indicates that a child has low T cells, an additional blood test is done to determine the actual number of T cells. An immunologist reviews the data and lets the parents know if the T cell numbers are low and if the child needs additional follow-up.

• #34 DiGeorge Syndrome Differential Diagnoses

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

  Diagnosis of 22q11.2DS is based on abnormal charecteristic facial features, abnormalities of the palate, congenital cardiac malformations, hypocalcemia secondary to hypoparathyroidism, immune deficiency due to a small or absent thymus, and learning difficulties. […] Conditions with overlapping features are as follows: […] Chromosome 10p13-p14 deletion (formerly referred to as DiGeorge syndrome type 2); patients with other chromosomal anomalies, such as those with deletion of 4q, 10p, or 17p. […] Prenatal diagnosis of the 22q11.2 deletion syndrome. […] Genetic counseling for the 22q11.2 deletion. […] Detecting 22q11.2 deletions by use of multiplex ligation-dependent probe amplification on DNA from neonatal dried blood spot samples. […] A novel, single nucleotide polymorphism-based assay to detect 22q11 deletions.

• #35 DiGeorge Syndrome – StatPearls – NCBI Bookshelf

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

  A clinician makes a definitive diagnosis of DGS in individuals with a microdeletion of chromosome 22 at the 22q11.2 locus. […] Microdeletions responsible for DGS are therefore detected by fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), single nucleotide polymorphism (SNP) array, comparative genomic hybridization (CGH) microarray, or quantitative polymerase chain reaction (qPCR). […] The availability and cost of these techniques can delay diagnosis, particularly in resource-poor settings. […] It is important to note that the broad spectrum of disease severity makes the evaluation of DGS particularly challenging. […] Diagnosis and management can be challenging, and the interprofessional team can provide a collaborative effort to reduce morbidity and mortality associated with DGS.

• #36 22Q11.2 Deletion Syndrome: Common but Underrecognized | Children’s Hospital of Philadelphia

  https://www.chop.edu/news/22q112-deletion-syndrome-common-underrecognized

  Today, the term DGS is generally reserved for those rare instances when the etiology is not caused by a 22q11.2 deletion, eg, in association with CHARGE syndrome (due to CHD7 mutations on chromosome 8) and teratogens, such as retinoic acid or diabetic embryopathy. […] 22q11.2DS is quite variable and can present with any combination of congenital anomalies, medical issues, cognitive deficits, behavioral differences, and later onset conditions […] Importantly, 22q11.2DS is common. It is the most common cause of syndromic palatal abnormalities and schizophrenia, and the second most common cause of congenital heart disease and developmental delay after Down syndrome. […] Peters case shows that, although common, lack of recognition of associated features and/or lack of familiarity with genetic testing methodstogether with such wide variabilityoften delays diagnosis. […] CHOPs 22q and You Center is considered the world leader in clinical care and research initiatives for chromosome 22q differences.

• #37 How does 22q11.2 deletion syndrome impact on sleep and mental health?

  https://www.acamh.org/blog/22q11-sleep-mental-health/

  22q11.2 deletion syndrome, also known as DiGeorge Syndrome or VCFS (Velo-Cardio-Facial-Syndrome) is a multi-system condition, extremely variable, often poorly recognised/understood and occurs in 1 in every 2 4,000 births worldwide. […] A late diagnosis of 22q is not unusual and can occur at any age. […] In the end either a clinician and/or a parent might speculate about a diagnosis of 22q but the only definitive way to find out is with genetic testing. […] Such is the immense variability of 22q however that there are cases where very few physical symptoms are present. […] Hardly any parents are given accurate information on mental health issues and very few children receive baseline psychiatric assessments at an early age. […] As children age ongoing concerns revolve around mental health and uncertainties about the future in areas of work, relationships and independent living.

• #38 Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1098-1

  The criteria proposed by Monteiro et al. show an alternative for reducing the age at diagnosis, which is a current and universal theme. […] The mean age at diagnosis of 22q11.2DS in two Brazilian studies were around 10 years old, which is similar to studies of other countries. […] Despite sample size, which did not allow to accurately identify statistical significance for each individual item from the three columns, it was possible to determine that the presence of a congenital heart disease with high predictive value for 22q11.2DS and hypernasal tone of voice was strongly indicative of 22q11.2DS in Group II. […] Considering the current options for 22q11.2 deletion testing (locus-specific or genome wide methods), individuals meeting the proposed criteria could be offered a locus-specific approach, whereas individuals not fulfilling them would probably benefit from a genome wide method, such as CMA. […] The proposed approach with hierarchical use of tests and centralization of more elaborate laboratory techniques, as well as standardization of unified pattern of analysis and interpretation of data, is a relevant strategy for diagnosis in any public health system.

• #39 DiGeorge Syndrome Diagnosis & Treatment | Cardinal Glennon

  https://www.ssmhealth.com/cardinal-glennon/fetal-care-institute/fetal-conditions-we-treat/genetic-syndromes/digeorge-syndrome-22q112-deletion-syndrome

  Although there is no cure for 22q11.2 DS, treatment can improve symptoms. […] Most people with 22q11.2 DS who receive ongoing healthcare and treatment from specialists have a normal life expectancy and achieve some degree of independence. […] Surgery to correct medical problems associated with 22q11.2 DS, such as heart defects and cleft palate, often provide effective treatment for many of these babies. […] After delivery, the Complex Medical Care program at SSM Health Cardinal Glennon Children’s Hospital can help with the medical care process by collaborating with all these health care providers to help ensure continuity of care.

• #40 NIPT for 22q11.2 Deletion Screening | DiGeorge Syndrome | Natera

  https://www.natera.com/info/22q-awareness/

  22q11.2 Deletion Syndrome (DiGeorge): Importantly, prenatal suspicion of 22q11.2 deletion syndrome allows for evaluation, confirmatory testing, and delivery at high-level healthcare facilities where neonates have access to potentially life-saving interventions including cardiac surgery, as well as treatment for other key features such as low calcium, immune deficiency, feeding, swallowing and breathing issues, all with the goal of optimizing long-term outcome while obviating the protracted diagnostic odyssey frequently traversed by families. […] Up to 1:2,000 pregnancies may be affected by 22q11.2 deletion syndrome. There is currently no newborn screening for this condition. Maternal age is not a risk factor for having a pregnancy affected by 22q. Detection with ultrasound is limited, and nearly 50% of cases with 22q do not have any ultrasound findings.

• #41 Taking advantage of early diagnosis: Preschool children with the 22q11.2 deletion | Genetics in Medicine

  https://www.nature.com/articles/gim20019

  The presence of NVLD does not preclude language deficits. In fact, the deficits in language reported here are also reported in the school-age population. […] Speech and language delays are present in almost all children with the 22q11.2 deletion. These findings are apparent in the first year of life. Interventions for these children should start early and involve the families. […] Each child with 22q11.2 deletion will be different and individual assessment by early intervention teams or a psychologist is recommended.

• #42 NIPT for 22q11.2 Deletion Screening | DiGeorge Syndrome | Natera

  https://www.natera.com/info/22q-awareness/

  22q11.2 Deletion Syndrome (DiGeorge): Importantly, prenatal suspicion of 22q11.2 deletion syndrome allows for evaluation, confirmatory testing, and delivery at high-level healthcare facilities where neonates have access to potentially life-saving interventions including cardiac surgery, as well as treatment for other key features such as low calcium, immune deficiency, feeding, swallowing and breathing issues, all with the goal of optimizing long-term outcome while obviating the protracted diagnostic odyssey frequently traversed by families. […] Up to 1:2,000 pregnancies may be affected by 22q11.2 deletion syndrome. There is currently no newborn screening for this condition. Maternal age is not a risk factor for having a pregnancy affected by 22q. Detection with ultrasound is limited, and nearly 50% of cases with 22q do not have any ultrasound findings.

• #43 22Q11.2 Deletion Syndrome: Common but Underrecognized | Children’s Hospital of Philadelphia

  https://www.chop.edu/news/22q112-deletion-syndrome-common-underrecognized

  Five-year-old Peter presented to Clinical Genetics following evaluations by 27 subspecialists who were unable to provide his 2 physician parents with a unifying diagnosis to explain his seemingly disparate constellation of findings. […] A microarray was sent, and a few weeks later revealed a chromosome 22q11.2 deletionthe most common cause of DiGeorge syndrome (DGS), despite his lack of classic triad of DGS: congenital heart disease, hypocalcemia, and immunodeficiency. […] 22q11.2 deletion syndrome is the most common microdeletion, identified in 1 in 992 pregnancies and 1 in 2,148 live births, resulting in loss of ~50 genes leading to significant morbidity and some mortality. […] This led to the development of fluorescence in situ hybridization (FISH) probes specific to chromosome 22q11.2 in the United Kingdom and at CHOP in the early 1990s, identifying a chromosome 22q11.2 deletion in most patients with DGS.

• #44 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. […] This activity outlines the diagnosis, evaluation, treatment, and management of patients with DGS, and highlights the role of the interprofessional team in managing patients with this condition. […] DGS is one of several syndromes that has historically grouped under a bigger umbrella called 22q11 deletion syndromes, which include Shprintzen-Goldberg syndrome, velocardiofacial syndrome, Cayler cardiofacial syndrome, Sedlackova syndrome, conotruncal anomaly face syndrome, and DGS. […] Current literature supports the use of the names of these syndromes interchangeably. […] A detailed history and physical is vital in the diagnosis and assessment of DiGeorge syndrome.

• #45 DiGeorge Syndrome in Kids | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/chromosome-22q/

  The Chromosome 22q11.2 Deletion Syndrome Multidisciplinary Clinic at Children’s Hospital Colorado evaluates children with 22q11.2 Deletion Syndrome and provides comprehensive management and ongoing multi-disciplinary care for children and families affected by the syndrome. Our specially trained clinicians provide patients and families with the resources necessary to understand the diagnosis, determine the appropriate treatments and therapies, cope with the challenges and thrive with the syndrome. […] Because 22q11.2 Deletion Syndrome has such a wide spectrum it can often go unrecognized and undiagnosed for years. However, it can be detected by a simple blood test called chromosomal microarray. A FISH (fluorescence in situ hybridization) test may also be used to detect the condition. […] Once diagnosed, there are published management guidelines that screen for possible complications and identify targeted management plans. Because it is a multisystem disorder, it is necessary to have multiple, ongoing evaluations, treatments and interventions. However, it is important to note that some children with 22q have few signs or symptoms and require minimal assistance; most others respond well to tailored treatment programs.

• #46 22q11.2 Deletion Syndrome (DiGeorge Syndrome) | Texas Children’s

  https://www.texaschildrens.org/content/conditions/22q112-deletion-syndrome-digeorge-syndrome

  22q11.2 deletion syndrome (22q11.2DS), also known as DiGeorge syndrome, is a genetic disorder that occurs when a small piece of one of the baby’s chromosomes – chromosome 22 – is missing. […] Treatment is focused on each child’s symptoms. Early diagnosis and intervention are important to help optimize outcomes. […] 22q11.2DS (DiGeorge Syndrome) may be suspected during pregnancy based on a family history and/or prenatal imaging that detects a cardiac defect in combination with other abnormalities such as a cleft palate, skeletal anomalies, kidney anomalies, and polyhydramnios (too much amniotic fluid). […] Testing to confirm the diagnosis involves taking a sample of genetic material and analyzing the chromosomes. Routine diagnostic tests include: […] Genetic testing can confirm the diagnosis. […] A diagnosis during pregnancy enables your family and your healthcare team to plan ahead for the specialized care your child may require at birth, for the best possible outcomes. […] 22q11.2DS (DiGeorge Syndrome) typically require coordinated care by a diverse team of healthcare providers.

• #47 DiGeorge Syndrome – StatPearls – NCBI Bookshelf

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

  A clinician makes a definitive diagnosis of DGS in individuals with a microdeletion of chromosome 22 at the 22q11.2 locus. […] Microdeletions responsible for DGS are therefore detected by fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), single nucleotide polymorphism (SNP) array, comparative genomic hybridization (CGH) microarray, or quantitative polymerase chain reaction (qPCR). […] The availability and cost of these techniques can delay diagnosis, particularly in resource-poor settings. […] It is important to note that the broad spectrum of disease severity makes the evaluation of DGS particularly challenging. […] Diagnosis and management can be challenging, and the interprofessional team can provide a collaborative effort to reduce morbidity and mortality associated with DGS.

• #48 DiGeorge syndrome (22q11 deletion)

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

  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. […] 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. […] They may refer you for a genetic test and talk about your level of risk and discuss your options. […] having a blood test to check if you or your partner carry the genetic problem that causes DiGeorge syndrome […] having tests during pregnancy (chorionic villus sampling or amniocentesis) to check if your baby has the genetic problem that causes the condition although this cannot show how severely your child will be affected […] pre-implantation genetic diagnosis a type of IVF where eggs are fertilised in a laboratory and embryos are tested for genetic problems before they’re implanted in the womb (this is not always available on the NHS).

• #49 22q11.2 Deletion Disorders (DiGeorge Syndrome and Velo-Cardio-Facial Syndrome) | American Heart Association

  https://www.heart.org/en/health-topics/congenital-heart-defects/about-congenital-heart-defects/22q112-deletion-disorders-digeorge-syndrome-and-velocardiofacial-syndrome

  22q11.2 deletion syndrome (also known as DiGeorge syndrome and velo-cardio-facial syndrome) is a disorder caused by the deletion of a small piece of chromosome 22. 22q11.2 identifies the specific chromosomal location where there is a microdeletion. […] A molecular test called fluorescence in situ hybridization (abbreviated as FISH) is used to detect and locate a specific DNA sequence on a chromosome. It can be used to determine whether there is a 22q11.2 deletion. If the FISH test is negative but there are symptoms of the disease, further chromosomal studies may be needed. […] If health care professionals determine that neither parent has 22q11.2 deletion syndrome, then the risk for others in the family including their other children (siblings of the child with the 22q11.2 deletion) is no greater than anyone else in the world, which is estimated at 1 in 4,000 to 1 in 7,000 births.

• #50 22q11.2 Deletion Syndrome in Children | Phoenix Children’s Hospital

  https://phoenixchildrens.org/specialties-conditions/22q112-deletion-syndrome-children

  The symptoms of 22q11.2DS can be like other health conditions. Make sure your child sees their healthcare provider for a diagnosis. […] Your child’s healthcare provider will look at your child’s prenatal history and complete health and family history. They will do a physical exam. Your child may need certain tests. These may include: […] Fluorescent in situ hybridization (FISH) studies. This blood test looks at a specific spot in the 22q11.2 region to see if it is deleted. If the FISH test doesn’t find any deletion in the 22q11.2 region of the chromosome but your child has signs of the syndrome, they will usually need a full chromosome study. This will look for other chromosome problems. […] Chromosomal microarray. This is similar to a FISH test. But it looks at many regions across all the chromosomes, including chromosome 22. This is to find a missing piece in the 22q11.2 location. This test is done more commonly than the FISH test to look for the deletion. […] A person with this condition has a 1 in 2 chance of passing the problem to a child. So genetic testing and counseling are important.

• #51 DiGeorge syndrome (22q11 deletion)

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

  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. […] 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. […] They may refer you for a genetic test and talk about your level of risk and discuss your options. […] having a blood test to check if you or your partner carry the genetic problem that causes DiGeorge syndrome […] having tests during pregnancy (chorionic villus sampling or amniocentesis) to check if your baby has the genetic problem that causes the condition although this cannot show how severely your child will be affected […] pre-implantation genetic diagnosis a type of IVF where eggs are fertilised in a laboratory and embryos are tested for genetic problems before they’re implanted in the womb (this is not always available on the NHS).

• #52 Orphanet: 22q11.2 deletion syndrome

  https://www.orpha.net/en/disease/detail/567

  22q11.2 deletion syndrome shows a variable clinical phenotype that can range from mild to severe. […] Diagnosis is suspected upon clinical examination and confirmed by detection of the 22q11.2 deletion, using fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), array comparative genomic hybridization (aCGH) or genome-wide SNP (single nucleotide polymorphism) microarrays. […] Prenatal diagnosis is possible in familial cases by chorionic villus sampling or amniocentesis, and in pregnancies where associated anomalies have been noted by fetal echocardiography. Preimplantation genetic diagnosis is possible.

• #53 DiGeorge Syndrome – StatPearls – NCBI Bookshelf

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

  A clinician makes a definitive diagnosis of DGS in individuals with a microdeletion of chromosome 22 at the 22q11.2 locus. […] Microdeletions responsible for DGS are therefore detected by fluorescence in situ hybridization (FISH), multiplex ligation-dependent probe amplification (MLPA), single nucleotide polymorphism (SNP) array, comparative genomic hybridization (CGH) microarray, or quantitative polymerase chain reaction (qPCR). […] The availability and cost of these techniques can delay diagnosis, particularly in resource-poor settings. […] It is important to note that the broad spectrum of disease severity makes the evaluation of DGS particularly challenging. […] Diagnosis and management can be challenging, and the interprofessional team can provide a collaborative effort to reduce morbidity and mortality associated with DGS.

• #54 DiGeorge Syndrome in Kids | Children’s Hospital Colorado

  https://www.childrenscolorado.org/conditions-and-advice/conditions-and-symptoms/conditions/chromosome-22q/

  The Chromosome 22q11.2 Deletion Syndrome Multidisciplinary Clinic at Children’s Hospital Colorado evaluates children with 22q11.2 Deletion Syndrome and provides comprehensive management and ongoing multi-disciplinary care for children and families affected by the syndrome. Our specially trained clinicians provide patients and families with the resources necessary to understand the diagnosis, determine the appropriate treatments and therapies, cope with the challenges and thrive with the syndrome. […] Because 22q11.2 Deletion Syndrome has such a wide spectrum it can often go unrecognized and undiagnosed for years. However, it can be detected by a simple blood test called chromosomal microarray. A FISH (fluorescence in situ hybridization) test may also be used to detect the condition. […] Once diagnosed, there are published management guidelines that screen for possible complications and identify targeted management plans. Because it is a multisystem disorder, it is necessary to have multiple, ongoing evaluations, treatments and interventions. However, it is important to note that some children with 22q have few signs or symptoms and require minimal assistance; most others respond well to tailored treatment programs.

• #55 22q11.2 Deletion Syndrome – MN Dept. of Health

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

  Several overlapping syndromes are included in the 22q11.2 deletion syndrome. These include: DiGeorge syndrome. Their common genetic cause is a microdeletion (a very small piece of DNA is missing) from the long arm of chromosome 22. The approach to treatment and management of any child with 22q11.2 deletion syndrome must be individualized, to treat their specific features. Characteristic facial features often aid in making the diagnosis and include a prominent nose with a rounded tip, smaller than average eye openings, flattened cheek bone areas, a long face, a small chin and a small head. Developmental delay is often seen in children with 22q11.2 deletion syndrome, including a delay in language. Although a diagnosis of 22q11.2 deletion syndrome presents many challenges for the physical and mental health of the child and his/her family, early diagnosis and consistent support by parents, educators and medical providers can improve and maximize the child’s health, development and wellbeing across their life span.

• #56 Testing criteria for 22q11.2 deletion syndrome: preliminary results of a low cost strategy for public health | Orphanet Journal of Rare Diseases | Full Text

  https://ojrd.biomedcentral.com/articles/10.1186/s13023-019-1098-1

  The criteria proposed by Monteiro et al. show an alternative for reducing the age at diagnosis, which is a current and universal theme. […] The mean age at diagnosis of 22q11.2DS in two Brazilian studies were around 10 years old, which is similar to studies of other countries. […] Despite sample size, which did not allow to accurately identify statistical significance for each individual item from the three columns, it was possible to determine that the presence of a congenital heart disease with high predictive value for 22q11.2DS and hypernasal tone of voice was strongly indicative of 22q11.2DS in Group II. […] Considering the current options for 22q11.2 deletion testing (locus-specific or genome wide methods), individuals meeting the proposed criteria could be offered a locus-specific approach, whereas individuals not fulfilling them would probably benefit from a genome wide method, such as CMA. […] The proposed approach with hierarchical use of tests and centralization of more elaborate laboratory techniques, as well as standardization of unified pattern of analysis and interpretation of data, is a relevant strategy for diagnosis in any public health system.

• #57 22q11.2 Deletion Syndrome Information for Patients and Families

  https://www.22q.ca/patients/

  How is 22q11.2 Deletion Syndrome diagnosed? […] 22q11.2 Deletion Syndrome used to be known as velo-cardio-facial syndrome or DiGeorge syndrome. […] 22q11.2 Deletion Syndrome can cause many different combinations of health problems. This can make the illness hard for doctors to recognize. It is especially important to create a healthcare team with experts in many different areas. Together, they can help care for the health problems caused by 22q11.2 Deletion Syndrome.

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