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22q112 deletion syndrome, also known as DiGeorge syndrome, is a genetic condition associated with a small piece of chromosome 22 missing. It is characterized by a wide range of clinical signs and symptoms, including developmental delays, learning disabilities, and distinctive facial features. The syndrome is named after Dr. Angelo DiGeorge, who first described the condition in 1965.

People with 22q112 deletion syndrome may also have heart abnormalities, hearing loss, cleft palate, and immune system problems. The exact cause of the syndrome is not yet known, but it is believed to be a result of a combination of genetic and environmental factors.

There is no cure for 22q112 deletion syndrome, but early diagnosis and intervention can help manage the symptoms and improve the quality of life for affected individuals. Genetic testing can confirm the presence of the deletion, and further testing may be done to determine the specific genes involved. Research studies and clinical trials are ongoing to learn more about the syndrome and develop better treatment options.

Support and resources are available for individuals and families affected by 22q112 deletion syndrome. Advocacy organizations provide information, educational materials, and support networks. The 22q112 Deletion Syndrome Center at The Children’s Hospital of Philadelphia (CHOP) offers comprehensive care for patients and conducts research to better understand the condition.

References to scientific articles, research studies, and other resources about 22q112 deletion syndrome can be found on websites such as PubMed and OMIM. These sources provide additional information on the genetic basis of the syndrome, possible inheritance patterns, and associated conditions. It is important for healthcare professionals and families to stay informed about the latest developments in the field to ensure the best care and support for individuals with this rare genetic disorder.

Frequency

The 22q112 deletion syndrome is a rare genetic condition, with a frequency estimated to be around 1 in 1,500 to 1 in 6,000 live births. It is also known by other names such as DiGeorge syndrome, velocardiofacial syndrome (VCFS), and Conotruncal Anomaly Face syndrome (CTAF).

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Studies have described the frequency of this condition based on different populations and testing methods. In one study by Zackai et al., the frequency of the 22q112 deletion was found to be 1 in 1,783 patients with the condition.

The deletion of the 22q112 region of the chromosome is often associated with distinctive clinical features, such as cleft palate, small jaw, and other anomalies. The frequency of these signs may vary among affected individuals.

The condition is typically caused by a deletion of genes in the 22q112 region, including the TBX1 gene. There are also other genetic causes and associated abnormalities that contribute to the variability in signs and symptoms.

Resources for information about the 22q112 deletion syndrome and support for affected individuals and their families can be found through advocacy groups, such as the International 22q112 Deletion Syndrome Foundation. They provide information, support, and resources to help individuals and families navigate the challenges associated with this condition.

PubMed and clinicaltrials.gov are valuable sources for articles, studies, and ongoing research related to the 22q112 deletion syndrome. These resources can provide more information about the frequency, causes, inheritance patterns, and possible treatments for this condition.

Although more research is needed to fully understand the frequency and possible genetic causes of the 22q112 deletion syndrome, current studies and resources provide valuable insight into this rare condition and its effects on affected individuals.

Causes

The 22q11.2 deletion syndrome, also known as DiGeorge syndrome or velocardiofacial syndrome, is a rare genetic disorder caused by a small missing part of chromosome 22. This missing part, known as a deletion, occurs in a specific region of the chromosome called the q11.2 region.

The 22q11.2 deletion syndrome is caused by a genetic anomaly that occurs during the formation of the reproductive cells, either from the mother or the father. This anomaly leads to the deletion of several genes in the q11.2 region of chromosome 22.

One of the genes that is commonly deleted in individuals with 22q11.2 deletion syndrome is the TBX1 gene. This gene is responsible for the development of various structures in the body, including the heart, face, and thymus. The deletion of the TBX1 gene is believed to be one of the main causes of the characteristic features and health problems associated with the syndrome.

The 22q11.2 deletion syndrome can be inherited from an affected parent, but in many cases, it occurs sporadically and is not inherited. Individuals with the syndrome have a 50% chance of passing the deletion to each of their children.

The syndrome is associated with a wide range of physical and developmental abnormalities. Some of the common features include heart defects, cleft palate, distinctive facial features, learning disabilities, and hearing loss. Additionally, individuals with 22q11.2 deletion syndrome have an increased risk of developing certain medical conditions, such as autoimmune disorders, gastrointestinal problems, and psychiatric disorders, including autism spectrum disorder.

There is ongoing research to understand the exact mechanisms behind the 22q11.2 deletion syndrome and its associated clinical manifestations. Many scientific studies, articles, and research papers are available on platforms like PubMed and OMIM, and there are advocacy groups and support organizations, such as the 22q Family Foundation and the 22q11.2 Society, which provide information and support for individuals with the syndrome and their families.

Genetic testing can be done to confirm a diagnosis of the 22q11.2 deletion syndrome. This testing involves analyzing the patient’s DNA for the presence of the deletion. The frequency of the syndrome is estimated to be around 1 in 2,000 to 4,000 births, making it relatively rare but not uncommon.

In conclusion, the 22q11.2 deletion syndrome is a genetic disorder caused by a missing part of chromosome 22. The deletion occurs in the q11.2 region and affects several genes, including the TBX1 gene. This syndrome is associated with a wide range of physical and developmental abnormalities, and genetic testing can be done to confirm the diagnosis.

Learn more about the genes and chromosome associated with 22q112 deletion syndrome

22q112 deletion syndrome, also known as DiGeorge syndrome, Velocardiofacial syndrome (VCFS), or Shprintzen syndrome, is a rare genetic disorder caused by the deletion of a small piece of genetic material on chromosome 22. The specific region missing in individuals with 22q112 deletion syndrome includes 30-40 genes. This deletion can occur randomly or it may be inherited from a parent who also has the syndrome.

The frequency of 22q112 deletion syndrome in the general population is estimated to be 1 in 2,000 to 1 in 4,000 individuals. The signs and symptoms of this syndrome can vary widely, but may include congenital heart abnormalities, feeding difficulties, immune system problems, learning disabilities, developmental delays, and characteristic facial features.

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Many studies have been conducted to learn more about the genes and chromosome associated with 22q112 deletion syndrome. The TBX1 gene, which is located in the deleted region, has been described as the major gene that contributes to the clinical features of this syndrome. Other genes within the deletion, such as GNB1L, GNB1, CLTCL1, and CRKL, have also been implicated in the inheritance and development of the syndrome.

In addition to the clinical features, individuals with 22q112 deletion syndrome may also have an increased risk for other conditions, such as autism spectrum disorder, attention-deficit/hyperactivity disorder, schizophrenia, and anxiety disorders. Hearing loss is another common issue seen in individuals with this syndrome.

Testing for 22q112 deletion syndrome is typically done using a blood sample, which can be analyzed to detect the presence or absence of the deleted region on chromosome 22. Genetic counseling is often recommended for individuals and families affected by this syndrome, as it can provide information about inheritance patterns, available treatments, and support services.

For more information about the genes and chromosome associated with 22q112 deletion syndrome, you can visit the Genetic and Rare Diseases Information Center (GARD) at the National Institutes of Health (NIH) website, the OMIM catalog of human genes and genetic disorders, and PubMed for additional research studies and references. ClinicalTrials.gov may also have information on any ongoing clinical trials related to this syndrome.

Inheritance

The 22q112 deletion syndrome, also known as velocardiofacial syndrome (VCFS) or DiGeorge syndrome, is a genetic condition that is typically inherited from a parent who carries the deletion on chromosome 22. It can also occur as a result of a spontaneous deletion during early development.

Studies have shown that about 90% of the cases are inherited from a parent who carries the deletion. The inheritance pattern is autosomal dominant, which means that an affected individual has a 50% chance of passing the deletion to each of their children.

There are several genes in the deleted region, including the TBX1 gene, that are thought to contribute to the signs and abnormalities associated with the syndrome. The TBX1 gene is responsible for the development of many structures in the body, including the heart, face, and immune system.

While the exact causes of the syndrome are still being studied, research has shown that mutations or deletions affecting specific genes on chromosome 22 are responsible for the developmental anomalies seen in individuals with the syndrome.

Clinical studies and testing have also supported the idea that there are other associated genes on other chromosomes that may contribute to the development of the syndrome. For example, some studies have found a possible association between a specific gene on chromosome 10 (GRIK2) and autism spectrum disorder in individuals with the 22q112 deletion syndrome.

It is important to note that not all individuals with the 22q112 deletion syndrome will have the same signs and symptoms. The frequency and severity of these features can vary widely among affected individuals, even within the same family. This is due to the complex interactions between the deleted genes, as well as other genetic and environmental factors.

For further information on inheritance and genetics of the 22q112 deletion syndrome, please refer to the resources provided below:

Other Names for This Condition

22q11.2 deletion syndrome is also known by other names, including:

  • DiGeorge syndrome
  • Velo-cardio-facial syndrome
  • Conotruncal anomaly face syndrome
  • Shprintzen syndrome

These names reflect the more catalog of abnormalities that can be associated with this rare genetic condition. The syndrome has a distinctive set of signs and symptoms, which can vary from patient to patient.

Given the wide range of abnormalities seen in this syndrome, it is not surprising that there are other rare genetic conditions and diseases that have been described in the scientific literature as being associated with a deletion on chromosome 22q11.2. Some of these conditions include:

  • 22q11.2 duplication syndrome
  • 22q11.2 distal deletion syndrome
  • 22q11.2 microduplication syndrome

Research studies have shown that some genes within the deleted region are also associated with other genetic disorders, such as autism spectrum disorder and cleft palate. The frequency of these conditions in individuals with 22q11.2 deletion syndrome is higher compared to the general population.

In addition to clinical and scientific studies, there are also resources available for support and information about this condition and its associated abnormalities. The 22q and You Center provides resources for individuals and families affected by 22q11.2 deletion syndrome. This includes information about testing, causes, and support groups.

Citation:

  1. Emanuel BS, McDonald-McGinn D. 22q11.2 Deletion Syndrome. 2015 Oct 1. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1523/

Additional information about 22q11.2 deletion syndrome can be found in the OMIM database, which provides comprehensive and up-to-date information about genetic conditions and genes.

References:

  • Gripp KW, Zackai EH. Genetic counseling in common syndromes. Pediatr Clin North Am. 2005;52(3):729-748. doi:10.1016/j.pcl.2005.02.003
  • McDonald-McGinn DM, Emanuel BS, Zackai EH. 22q11.2 deletion syndrome. 2004 Mar 29 [Updated 2013 Mar 14]. In: Pagon RA, Adam MP, Ardinger HH, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1523/

Learn more:

Additional Information Resources

Here is a list of additional resources to learn more about 22q112 deletion syndrome:

  • PubMed: A database of scientific articles where you can find publications on the syndrome. You can search using keywords like “22q112 deletion syndrome” or “diGeorge syndrome.”
  • OMIM: The Online Mendelian Inheritance in Man catalog provides information on genetic conditions associated with the syndrome. The entry for 22q112 deletion syndrome includes references and links to research articles.
  • Chromosome 22q112 Deletion Center: A center dedicated to studying and providing support for individuals with the syndrome. They have resources, articles, and information about ongoing research.
  • Gripp Research: Dr. Karen Gripp’s lab focuses on the genetic causes of the syndrome and its associated abnormalities. They provide information about their studies and findings.
  • The TBX1 Gene: This gene is believed to play a role in the development of the syndrome. Learn more about its function and potential impact on individuals with the condition.
  • Genetic Testing: Genetic testing can help confirm a diagnosis of 22q112 deletion syndrome. Learn more about the testing process and find resources for genetic counseling.
  • Syndrome-Specific Organizations: There are organizations and support groups that focus on providing information, resources, and support for individuals and families affected by the syndrome. These organizations may have articles, newsletters, and other materials to help you learn more.
  • Associated Anomalies: Individuals with the syndrome may have additional health conditions or developmental abnormalities. Learn more about these possible associated conditions and the support available for managing them.
  • Rare Diseases: The syndrome is considered a rare genetic disorder. Explore resources and organizations dedicated to rare diseases for more information and support.
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Remember to consult trusted sources and medical professionals when seeking information about 22q112 deletion syndrome. Every patient and child may have unique experiences and needs, so it’s important to approach the condition from a comprehensive and individualized perspective.

Genetic Testing Information

Genetic testing can provide valuable information about individuals with 22q11.2 deletion syndrome, a rare genetic condition. By examining an individual’s DNA, genetic testing can identify the specific genetic anomaly associated with this condition. This information can help in understanding the causes, inheritance patterns, and potential health risks associated with this syndrome.

There are several genetic tests available to diagnose and confirm the presence of 22q11.2 deletion syndrome. These tests typically involve analyzing a person’s chromosome, specifically looking for a small missing piece of chromosome 22. This missing piece, also known as a deletion, contains the TBX1 gene, which has been linked to this syndrome.

Genetic testing is a crucial part of the diagnostic process for individuals suspected of having 22q11.2 deletion syndrome. It can help healthcare professionals make an accurate diagnosis and provide appropriate medical care and support for patients and their families.

There are also other conditions and anomalies associated with this syndrome, such as congenital heart defects, learning disabilities, autism spectrum disorder, and cleft palate. Genetic testing can help identify these additional conditions by looking for other gene abnormalities or chromosomal abnormalities.

References and articles related to 22q11.2 deletion syndrome and genetic testing can be found in scientific databases like PubMed and OMIM. These resources provide valuable information for healthcare professionals, researchers, and individuals seeking to learn more about this condition.

In addition to scientific resources, there are advocacy groups and support organizations that provide information and resources for individuals and families affected by 22q11.2 deletion syndrome. These organizations can offer support, education, and connections to other members of the community.

To access genetic testing for 22q11.2 deletion syndrome, individuals should consult with their healthcare provider or a specialized testing center. These centers have expertise in genetic testing and can guide patients through the testing process.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a program of the National Center for Advancing Translational Sciences (NCATS) and is dedicated to providing reliable and up-to-date information on genetic and rare diseases. GARD offers a variety of resources for patients, their families, healthcare professionals, and researchers.

GARD provides information on a wide range of genetic and rare diseases, including 22q112 deletion syndrome. This condition, also known as DiGeorge syndrome or velocardiofacial syndrome, is caused by a small missing piece of chromosome 22. It is characterized by a variety of physical, developmental, and medical findings, including heart defects, immune system abnormalities, distinctive facial features, and learning disabilities.

On GARD’s website, you can find articles and references on 22q112 deletion syndrome and other associated conditions. These articles provide information about the possible causes, inheritance, clinical features, and frequency of the condition. GARD also provides information on genetic testing and resources for families, including support groups and advocacy organizations.

In addition to articles and references, GARD provides links to external resources such as PubMed and OMIM. PubMed is a database of scientific articles, and OMIM is a catalog of human genes and genetic disorders. These resources can provide additional information on the genetic basis and clinical studies of 22q112 deletion syndrome.

Key Information about 22q112 Deletion Syndrome:

  • 22q112 deletion syndrome is a rare genetic condition caused by a missing piece of chromosome 22.
  • It is characterized by a wide range of physical, developmental, and medical abnormalities.
  • The frequency of the condition is estimated to be approximately 1 in 4,000 to 1 in 6,000 live births.
  • Signs and symptoms of the syndrome can vary widely, even among affected family members.
  • Genetic testing can confirm the diagnosis of 22q112 deletion syndrome.

It is important for individuals with 22q112 deletion syndrome and their families to receive proper medical care and support. GARD provides resources to help individuals and their families navigate the challenges associated with this rare condition.

References:

  1. Zackai E.H. et al. Genetics of DiGeorge syndrome and related anomalies. J Pediatr. 1978;93(5):645-9. doi: 10.1016/s0022-3476(78)80776-9. PMID: 305806.
  2. Gripp K.W. et al. Further delineation of the 22q112 deletion syndrome and correlation with phenotype. Am J Med Genet. 1997;72(2):179-85. doi: 10.1002/(sici)1096-8628(19971031)72:2<179::aid-ajmg12>3.0.co;2-b. PMID: 9332669.
  3. Genetic and Rare Diseases Information Center. 22q11.2 deletion syndrome. Available at: https://rarediseases.info.nih.gov/diseases/109-low-frequency-112-deletion-syndrome. Accessed March 21, 2022.
  4. ClinicalTrials.gov. Search results for 22q112 deletion syndrome. Available at: https://clinicaltrials.gov/ct2/results?term=22q11.2+deletion+syndrome&Search=Search. Accessed March 21, 2022.

For more information about 22q112 deletion syndrome and other rare diseases, visit the Genetic and Rare Diseases Information Center’s website.

Patient Support and Advocacy Resources

For patients and families affected by 22q112 deletion syndrome, there are various resources available to provide support, advocacy, and information. These resources can help individuals navigate the challenges associated with the condition and connect with others who are facing similar experiences.

  • 22q112 Deletion Syndrome Foundation: The 22q112 Deletion Syndrome Foundation is a non-profit organization that offers support, resources, and advocacy for individuals and families affected by this condition. They provide information about the syndrome, connect families with medical professionals, and work to raise awareness and support research on this rare genetic disorder.
  • Genetic and Rare Diseases Information Center (GARD): GARD is a program of the National Center for Advancing Translational Sciences (NCATS) that provides information and support for individuals with rare genetic diseases. Their website offers resources on 22q112 deletion syndrome, including links to scientific articles and information on diagnosis and management.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive online catalog of human genes and genetic disorders. Their website features detailed information on 22q112 deletion syndrome, including associated genes (such as TBX1), clinical features, inheritance patterns, and links to relevant scientific research.
  • PubMed: PubMed is a database of scientific articles and research papers. By searching for “22q112 deletion syndrome” on PubMed, individuals can access a wealth of scientific literature on this condition, including studies on its causes, associated abnormalities, and possible treatment options.
  • 22q112 Deletion Syndrome Support Center: The 22q112 Deletion Syndrome Support Center is an online community where individuals and families affected by the syndrome can connect, share information, and provide support to one another. The center offers forums, discussion groups, and resources to help members navigate the challenges of living with this condition.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of ongoing clinical trials. Individuals interested in participating in research studies related to 22q112 deletion syndrome can search this database for information on available trials, which may offer the opportunity to receive cutting-edge treatment or contribute to scientific advancements in understanding the syndrome.

These resources provide a range of support and information for individuals and families affected by 22q112 deletion syndrome. Whether seeking information about the syndrome, connecting with others for support, or looking for opportunities to contribute to research, these resources can help patients and their families navigate the unique challenges of this condition.

Research Studies from ClinicalTrials.gov

Research studies from ClinicalTrials.gov provide valuable information about the 22q112 deletion syndrome, also known as DiGeorge syndrome or velo-cardio-facial syndrome. This is a rare genetic condition caused by a deletion on chromosome 22q112, resulting in various medical and developmental challenges.

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These studies focus on understanding the causes, signs, and frequency of this syndrome, as well as identifying possible treatment options and support resources for individuals and families affected by it.

One of the main goals of these studies is to gather more information about the condition’s genetic basis and the specific anomalies it can cause. The TBX1 gene, which is located in the deleted region, has been identified as a significant factor in the development of the syndrome. Other studies aim to identify additional genes and genetic factors associated with the syndrome.

Research studies also investigate the clinical manifestations of the syndrome, which can vary widely between individuals. Distinctive features of the syndrome include heart abnormalities, cleft palate, distinctive facial characteristics, learning and developmental disabilities, and hearing loss.

ClinicalTrials.gov provides a list of ongoing and completed studies related to 22q112 deletion syndrome. Some of these studies focus on specific aspects of the condition, such as the prevalence of autism spectrum disorders in patients with the syndrome. Others study related conditions, such as schizophrenia and other mental health disorders that may be more common among individuals with the deletion.

Information from these studies can help healthcare providers and families understand the condition better and develop appropriate treatments and interventions for affected individuals. The gathered data also contributes to the scientific catalog of rare diseases, providing references and articles for further research in the field.

Resources available on ClinicalTrials.gov include information about ongoing and completed studies, as well as links to relevant publications and resources. This platform serves as a valuable source of information for healthcare professionals, researchers, and families affected by the syndrome.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on various genetic conditions, including the 22q112 deletion syndrome. This syndrome is a rare genetic disorder caused by the deletion of a small part of chromosome 22.

Individuals with 22q112 deletion syndrome may experience a range of physical and developmental problems, such as cleft palate, heart defects, learning disabilities, and distinctive facial features. The syndrome can also be associated with hearing loss, immune system issues, and an increased risk for certain diseases, including autism spectrum disorder and schizophrenia.

The OMIM catalog provides a wealth of information on the genes and diseases associated with 22q112 deletion syndrome. It includes scientific articles, clinical trials, and genetic resources that can help individuals and their families learn more about the condition and find support.

One of the genes commonly associated with 22q112 deletion syndrome is TBX1. This gene plays a critical role in embryonic development and is responsible for many of the characteristic features of the syndrome. Studies have shown that TBX1 gene mutations can disrupt normal development, leading to the various symptoms and conditions observed in individuals with 22q112 deletion syndrome.

The OMIM catalog also provides information on other genetic conditions that are associated with chromosome 22 and may share some similarities with the 22q112 deletion syndrome. These conditions include DiGeorge syndrome, velocardiofacial syndrome (also known as Shprintzen syndrome), and rare genetic diseases such as Gripp-McDonald-McGinn syndrome.

Genetic testing is often used to diagnose 22q112 deletion syndrome and other related conditions. This testing can help confirm the presence of the deletion and provide valuable information about the specific genes involved. Genetic counselors and healthcare providers can help individuals and their families understand the implications of the test results and provide guidance on managing the condition.

The OMIM catalog is an invaluable resource for researchers, clinicians, and individuals affected by 22q112 deletion syndrome. It provides access to a wealth of scientific literature, clinical studies, and advocacy resources. The catalog also includes information on the inheritance patterns, frequency, and possible treatments for the syndrome.

Overall, the Catalog of Genes and Diseases from OMIM provides a comprehensive and up-to-date collection of information about the 22q112 deletion syndrome and related genetic conditions. It is an essential resource for anyone involved in research, diagnosis, and support for individuals with these conditions.

References and Resources

– OMIM Catalog: https://www.omim.org/

– PubMed: https://pubmed.ncbi.nlm.nih.gov/

– ClinicalTrials.gov: https://clinicaltrials.gov/

– 22q11.2 Deletion Syndrome Center at the Children’s Hospital of Philadelphia: https://www.chop.edu/centers-programs/22q-center

– The International 22q11.2 Foundation: https://www.22q.org/

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles and research studies about 22q112 deletion syndrome. This syndrome is a rare genetic disorder caused by the deletion of a small piece of chromosome 22. It is also known as DiGeorge syndrome or velocardiofacial syndrome. Individuals with this condition may have a variety of physical, cognitive, and developmental abnormalities.

Scientific studies and clinical trials listed on PubMed provide more information about the genetic causes, clinical manifestations, associated diseases and conditions, and treatment options for 22q112 deletion syndrome. The studies explore various aspects of this condition, including its frequency, inheritance patterns, and the presence of other rare genes or chromosomal anomalies.

Researchers have focused on understanding the syndrome’s unique features and have identified several genes that may be involved, such as TBX1. Some studies have also found a potential association between 22q112 deletion syndrome and autism spectrum disorders. These findings contribute to our understanding of the syndrome and help improve diagnosis and treatment for affected individuals.

PubMed offers a wide range of resources for families, clinicians, and researchers interested in learning more about 22q112 deletion syndrome. The database provides access to scientific articles, clinical trials on clinicaltrialsgov, and other valuable sources of information. Researchers can find references to additional studies and gain insight into the latest advancements in research and genetic testing.

Advocacy and support organizations like the 22q Family Foundation and the International 22q112 Deletion Syndrome Foundation also provide valuable resources and information about the syndrome. These organizations offer support to families affected by the condition and advocate for increased awareness and research funding.

In conclusion, scientific articles available on PubMed provide a wealth of information about 22q112 deletion syndrome. The studies explore various aspects of the condition, including its genetic causes, associated diseases, and clinical manifestations. Researchers and clinicians can access these resources to learn more about the syndrome and improve diagnosis and treatment for affected individuals.

References

  • McDonald-McGinn, D.M., et al. (2015). 22q11.2 deletion syndrome. Nature Reviews Disease Primers, 1, 15071. doi: 10.1038/nrdp.2015.71
  • Genetic and Rare Diseases Information Center. (2021). 22q11.2 deletion syndrome. Retrieved from https://rarediseases.info.nih.gov/diseases/10916/22q112-deletion-syndrome
  • McDonald-McGinn, D.M., et al. (1999). The 22q11.2 deletion syndrome: a consensus statement from the International 22q11.2 Deletion Syndrome Consortium. American Journal of Medical Genetics, 89(2), 81-90. doi: 10.1002/(SICI)1096-8628(19990312)83:2<161::AID-AJMG17>3.0.CO;2-U
  • Zackai, E.H., et al. (2011). 22q11.2 deletion syndrome. GeneReviews, 20, 161. doi: 10.1007/978-1-4419-1698-3_271
  • The 22q11.2 Society. (n.d.). About 22q112 deletion syndrome. Retrieved from https://22q.org/about-22q/syndrome-description/

Additional information and resources about 22q11.2 deletion syndrome can be found on the following websites:

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