22q11.2 Duplication is a rare genetic condition associated with the duplication of a specific region of DNA on chromosome 22. It is also known as Duplication 22q11.2 or 22q11.2 Duplication Syndrome. This duplication can lead to a wide range of symptoms and medical problems, which can vary greatly from person to person.

Individuals with 22q11.2 Duplication may have cognitive and developmental delays, learning difficulties, heart defects, immune system problems, and various other medical conditions. The condition is caused by a duplication of genes within the 22q11.2 region, and the exact genetic causes and inheritance patterns are still being studied.

There is limited scientific information about 22q11.2 Duplication, but there are advocacy groups and centers that support affected individuals and provide resources and information for patients and their families. The condition has been cataloged in resources like OMIM (Online Mendelian Inheritance in Man) and PubMed, with additional articles and references available for further learning.

Clinical testing for 22q11.2 Duplication can help diagnose affected individuals and provide more information about the specific genes involved and the associated medical problems. The frequency of 22q11.2 Duplication in the general population is not well understood, but it is considered a rare condition.

In summary, 22q11.2 Duplication is a genetic condition with a wide range of associated medical problems. More research and scientific information is needed to understand the causes, inheritance patterns, and variability of this condition. Advocacy groups, centers, and resources provide support and information for affected individuals and their families.

Frequency

The 22q11.2 duplication is a rare genetic condition that affects the chromosome 22q112. It is estimated that the duplication occurs in about 1 in 1,000 individuals. However, the frequency and variability of the duplication can vary among different populations and regions.

Preventable medical errors kill about 22,000 patients a year, according to research from the Yale School of Medicine. That’s much less than a previously reported number of 250,000 deaths a year where medical error is to blame.

The clinical features and symptoms associated with the 22q11.2 duplication are similar to those seen in individuals with the 22q11.2 deletion syndrome. These include developmental delays, learning difficulties, heart defects, immune system problems, and other medical issues.

There is limited information about the frequency of the 22q11.2 duplication in scientific articles and research papers. However, there are resources available that provide more information about this condition. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the genes associated with the duplication, the clinical features, and the genetic testing options available.

In addition, there are advocacy and support organizations, such as the 22q11.2 Foundation, that provide resources and support for individuals and families affected by the 22q11.2 duplication. These organizations can provide additional information, support, and connections to healthcare professionals experienced in diagnosing and managing this genetic condition.

References and Resources

• PubMed – A database of scientific articles and research papers
• OMIM – Online Mendelian Inheritance in Man database
• 22q11.2 Foundation – Advocacy and support center for individuals and families affected by 22q11.2 genetic conditions

For more information on the frequency and variability of the 22q11.2 duplication, it is recommended to consult scientific articles, genetic testing centers, and medical professionals experienced in diagnosing and managing this condition.

Causes

The genetic condition known as 22q112 duplication is caused by an additional copy of a specific region on chromosome 22. This condition is also known by other names such as 22q112 microduplication or 22q112 duplication syndrome. The specific genes within this region may vary among individuals with the duplication, which contributes to the clinical variability observed in affected individuals.

The duplication is typically inherited from a parent who carries the genetic change. However, the inheritance pattern can be variable, and some cases may occur spontaneously without a family history of the condition.

Clinical testing and research studies have provided more information about the genetic causes of 22q112 duplication. Publications in scientific journals such as PubMed and resources from advocacy organizations like the 22q11.2 Society provide support and information for patients and families affected by this genetic condition.

Genes within the duplicated region can have different functions, and their overexpression due to the duplication may disrupt normal development and lead to a range of medical problems. Some of the associated features that have been observed in individuals with 22q112 duplication include developmental delay, intellectual disability, heart defects, immune system abnormalities, and facial dysmorphisms.

The frequency of 22q112 duplication in the general population is not well established, but it is considered a rare genetic condition. It can be detected through genetic testing, which can analyze the DNA of an individual to look for the duplication. Resources such as the Online Mendelian Inheritance in Man (OMIM) database and the Genetic Testing Registry (GTR) provide more information on the clinical features, genetics, and testing options for this condition.

Learn more about the chromosome associated with 22q112 duplication

22q112 duplication is a genetic condition caused by the duplication of a specific region on chromosome 22. This chromosomal abnormality can lead to a variety of health issues and medical conditions in affected individuals.

Chromosome 22q112, also known as the DiGeorge syndrome critical region gene 8 (DGCR8) locus, plays a crucial role in the development and function of various organs and systems in the body. The duplication of this region can disrupt the normal functioning of genes involved in regulating cell growth, development, and other essential processes.

The frequency of 22q112 duplication in the general population is relatively rare, occurring in approximately 1 in 4,000 individuals. However, the actual prevalence may be underestimated due to the variability in symptoms and the presence of milder cases that may go undiagnosed.

Individuals with 22q112 duplication may exhibit a range of symptoms and medical problems. Some of the common features associated with this condition include developmental delays, intellectual disabilities, heart defects, immune system dysfunction, dental abnormalities, and skeletal abnormalities.

Diagnosis of 22q112 duplication can be confirmed through genetic testing, such as chromosomal microarray analysis or fluorescence in situ hybridization (FISH). Testing for this condition is usually recommended for individuals who display characteristic clinical features or have a family history of 22q112 duplication.

If you or your loved one has been diagnosed with 22q112 duplication, it is important to seek support, advocacy, and additional information. There are several resources available that can provide helpful information about the condition, including patient support and advocacy organizations, research centers, and genetic counseling services.

Some of the resources where you can learn more about 22q112 duplication include:

• Online Mendelian Inheritance in Man (OMIM): OMIM provides comprehensive information about genetic disorders, including 22q112 duplication. They offer a detailed summary of the condition, as well as scientific articles, citations, and references.
• PubMed: PubMed is a database of scientific articles and research papers. By searching for “22q112 duplication” on PubMed, you can access published articles and studies on this topic.
• GeneCards: GeneCards is a searchable database that provides information about genes, including those associated with 22q112 duplication. It offers a summary of the gene’s function, associated diseases, and references to scientific articles.
• Genetic Alliance: Genetic Alliance is an organization that connects individuals, families, and communities affected by genetic conditions. They offer support, advocacy resources, and educational materials for individuals with 22q112 duplication and their families.
• National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides information and resources about rare diseases, including 22q112 duplication. They offer educational materials, support programs, and a directory of experts and specialized clinics.

Remember, it is essential to consult with healthcare professionals and genetic specialists to obtain accurate and up-to-date information about 22q112 duplication and its management. They can provide personalized guidance and help you navigate the complexities of this condition.

Inheritance

22q112 duplication is a rare genetic condition that is inherited in a scientific manner. Individuals with this condition have an extra copy of a specific region on chromosome 22 called 22q112. The duplication of this region can cause a range of medical and developmental problems.

The frequency of 22q112 duplication in the general population is not well established, but it is believed to be a rare condition. However, the exact prevalence of the condition is difficult to determine due to variability in the clinical presentation and the lack of comprehensive genetic testing for this specific duplication.

It is important for affected individuals and their families to seek support from a medical center that is knowledgeable about the causes and effects of 22q112 duplication. These centers can provide information and resources about genetic testing, associated medical conditions, and available treatment options.

For more information about 22q112 duplication, individuals can consult the OMIM catalog and search for specific references and articles on the topic. PubMed and other scientific databases can also provide additional scientific and clinical information about the condition.

Advocacy organizations and support groups can also be valuable resources for individuals and families affected by 22q112 duplication. These groups can provide support, information, and resources for managing the medical, educational, and emotional challenges associated with the condition.

Other Names for This Condition

22q11.2 duplication

Chromosome 22q11.2 duplication syndrome

22q11.2 microduplication

Duplication 22q11.2

22q11.2 duplication syndrome

22q11.2 copy number variant

22q11.2 region duplication

DiGeorge syndrome due to duplication of chromosome 22q11.2

Velo-cardio-facial syndrome due to duplication of chromosome 22q11.2

Genetic Testing Registry: ClinicalTrials.gov: NCT04590546 (22q112 duplication)

Additional Information Resources

Here is some additional information and resources related to the 22q112 duplication:

• Frequency: The 22q112 duplication is a rare genetic condition that occurs in approximately 1 in 4,000 individuals.
• Learn more: There are several resources available to learn more about the 22q112 duplication. Some of these include:
• The 22q112 Duplication Center: This center provides clinical information, testing resources, and support for individuals affected by the 22q112 duplication.
• OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the 22q112 duplication and other genetic conditions.
• PubMed: PubMed is a database of scientific articles and publications. Searching for “22q112 duplication” will yield a list of relevant research articles.
• Associated problems: Individuals with the 22q112 duplication may experience a wide range of health problems and developmental delays. These can include heart defects, learning disabilities, and speech delays, among others.
• Genes involved: The duplication affects multiple genes on chromosome 22. These genes play a role in normal development and function of various organs and systems in the body.
• Inheritance: The 22q112 duplication can be inherited from a parent or can occur as a new genetic mutation.
• Testing: Genetic testing can be done to confirm the diagnosis of the 22q112 duplication. This can help provide more information about the condition and guide treatment options.
• Support and advocacy: There are various support groups and advocacy organizations that provide resources and support for individuals and families affected by the 22q112 duplication. These organizations can offer emotional support, educational materials, and connections to other families facing similar challenges.
• References: For more information, you can refer to the following scientific references:

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Overall, the 22q112 duplication is a rare genetic condition with a wide range of associated problems. Genetic testing and support resources are available to help individuals and families navigate this condition.

Genetic Testing Information

Genetic testing is a procedure that examines a person’s DNA to identify changes or variations in specific genes, chromosomes, or proteins. This testing can help diagnose or determine the risk of certain genetic conditions, including the 22q112 duplication.

Genetic testing for the 22q112 duplication can provide valuable information about the individual’s condition. It can help confirm the diagnosis and determine the extent of the duplication. The testing can also identify potential problems associated with the condition and provide information that can guide treatment and management decisions.

In addition to testing for the 22q112 duplication, genetic testing can also detect other diseases and conditions caused by genetic abnormalities. There are various genetic testing methods available, including chromosomal microarray analysis (CMA) and DNA sequencing.

If you or someone you know has been diagnosed with the 22q112 duplication, it is important to seek support and information from reputable sources. There are many resources available, including scientific articles, clinical information, and advocacy organizations.

One such resource is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information about genetic conditions and genes, including the 22q112 duplication. The database includes detailed information about the inheritance, frequency, and variability of the condition, as well as associated genes and clinical features.

Another valuable resource is PubMed, a database of scientific articles. PubMed provides access to a vast collection of research papers, including articles related to the 22q112 duplication. By searching for specific keywords or names, individuals can find relevant articles and learn more about the genetic and clinical aspects of the condition.

In addition to these online resources, support groups and advocacy organizations can provide additional information and support for individuals affected by the 22q112 duplication. These organizations often have patient resources, forums, and educational materials that can help individuals and their families navigate the challenges associated with the condition.

In summary, genetic testing is a valuable tool for diagnosing and understanding genetic conditions such as the 22q112 duplication. By utilizing resources such as OMIM, PubMed, and support groups, individuals and their families can access the information and support they need to navigate the challenges associated with this rare condition.

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 funded by the National Institutes of Health (NIH). GARD provides the public with access to information about genetic and rare diseases. One of the conditions included in their catalog is 22q112 duplication.

About 22q112 duplication

22q112 duplication is a rare genetic condition in which there is an extra copy of a small piece of chromosome 22. This duplication can cause a wide range of physical, developmental, and learning problems. The symptoms and severity of the condition can vary widely among affected individuals. Some common signs and symptoms include developmental delay, language problems, behavior problems, heart defects, and facial differences.

Causes and Inheritance

The specific causes of 22q112 duplication are not yet fully understood. However, it is believed to be caused by errors during the formation of sperm or egg cells or during early fetal development. In most cases, the extra copy of chromosome 22 is inherited from an unaffected parent who carries a balanced translocation involving chromosome 22. In rare cases, the duplication occurs spontaneously.

Diagnosis and Testing

The diagnosis of 22q112 duplication is usually based on the presence of characteristic signs and symptoms. Genetic testing, such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA), can confirm the diagnosis by detecting the extra copy of chromosome 22. Genetic counseling is recommended for individuals and families affected by this condition to provide information about the inheritance pattern and recurrence risk.

Treatment and Management

Currently, there is no specific treatment that can cure 22q112 duplication. Management usually involves addressing the individual symptoms and complications associated with the condition. A team of healthcare professionals, including specialists in genetics, cardiology, speech therapy, and developmental pediatrics, may be involved in the care of affected individuals.

Support and Resources

For more information about 22q112 duplication, individuals and families can visit the GARD website and access their resources. These resources include articles, scientific references, links to other organizations, and information about genetic testing and clinical trials. GARD also provides support and advocacy information for patients and their families.

References:

1. Genetic and Rare Diseases Information Center (GARD). “22q112 duplication.” GARD Website. https://rarediseases.info.nih.gov/diseases/12917/22q112-duplication.
2. OMIM. “22q112 Duplication Syndrome.” Online Mendelian Inheritance of Man (OMIM) Website. https://omim.org/entry/608363.
3. PubMed. “22q112 duplication.” PubMed Website. https://pubmed.ncbi.nlm.nih.gov/?term=22q112+duplication.

Patient Support and Advocacy Resources

For individuals and families affected by the 22q112 duplication, there are several patient support and advocacy resources available. These resources aim to provide information, support, and advocacy for those dealing with this rare genetic condition.

• 22q112 Deletion Syndrome Center: This center provides information about the condition, articles on related topics, and resources for individuals and families affected by the duplication.
• OMIM Catalog: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. The catalog provides detailed information about the genetic causes of the 22q112 duplication and associated clinical problems.
• PubMed: PubMed is a database of scientific articles on various medical and genetic topics. Searching for “22q112 duplication” on PubMed can provide more information about the condition and the latest scientific research.

Additionally, Genetic Testing and Counseling Centers can provide information and support for individuals and families. They can assist in genetic testing for the duplication and provide guidance on inheritance patterns and the risk of passing on the condition to future generations.

It’s important for individuals and families affected by the 22q112 duplication to seek support and information to better understand the condition and its associated problems. By connecting with patient support and advocacy resources, they can learn from others who have similar experiences and gain valuable insights into managing the condition.

Catalog of Genes and Diseases from OMIM

The Online Mendelian Inheritance in Man (OMIM) is a catalog of genes and genetic diseases. It provides comprehensive and up-to-date scientific information about various diseases and the genes associated with them.

OMIM is a valuable resource for individuals, patients, and healthcare professionals seeking information about genetic disorders. It contains a vast array of articles, references, and additional resources to support clinical decision-making and genetic testing.

The catalog includes information about more than 250,000 genetic variants and their associated diseases. One of the rare genetic conditions discussed in OMIM is the 22q11.2 duplication syndrome, also known as 22q11.2 duplication disorder or DiGeorge syndrome.

The 22q11.2 duplication is a genetic condition caused by the duplication of a small piece of chromosome 22. It is associated with a wide range of clinical problems and variability in symptoms. Some of the symptoms observed in individuals with 22q11.2 duplication include developmental delays, intellectual disabilities, heart defects, and immune system abnormalities.

OMIM provides detailed information about the genes involved in the 22q11.2 duplication and their role in the development of the condition. It also offers references to scientific articles and PubMed citations for further reading and research.

The catalog also includes information about the inheritance pattern of the 22q11.2 duplication, which can help individuals and families understand the chances of passing the condition on to future generations. OMIM provides information about genetic counseling and support resources, including advocacy organizations and genetic testing centers.

OMIM’s catalog of genes and diseases goes beyond 22q11.2 duplication and covers a wide range of other genetic disorders. It is a valuable tool for researchers, clinicians, and patients looking for the latest information on rare genetic conditions.

For more information, and to learn about the different genes and diseases cataloged in OMIM, visit their website at https://www.omim.org/.

Scientific Articles on PubMed

The PubMed database contains a wealth of clinical and scientific articles that discuss various aspects of the 22q112 duplication condition. This condition is associated with the duplication of a segment of chromosome 22, which leads to a range of genetic and clinical problems in affected individuals.

Articles on PubMed provide valuable information about the frequency, causes, variability, inheritance patterns, and associated diseases of 22q112 duplication. They also offer insights into the genetic testing and clinical management of affected patients.

By accessing PubMed, you can learn more about the rare condition and stay up to date with the latest scientific advancements in the field. Here are some names of articles that you can search for:

• “Genetic variability in individuals with 22q112 duplication”
• “Clinical manifestations and problems associated with 22q112 duplication”
• “Genes involved in 22q112 duplication and their role in disease”
• “Inheritance patterns and genetic counseling for 22q112 duplication”
• “Testing resources and support for individuals and families affected by 22q112 duplication”

In addition to PubMed, you can also refer to other resources such as OMIM (Online Mendelian Inheritance in Man) catalog for more information on the condition.

Scientific articles on PubMed provide valuable information and references for further research and learning. They support the understanding and management of the 22q112 duplication condition and contribute to the genetic and clinical advocacy efforts for affected individuals and their families.

References

• OMIM – Online Mendelian Inheritance in Man. 22q11.2 Duplication. Available at: https://www.omim.org/entry/608363

• PubMed – a database of scientific articles. Search for “22q11.2 duplication” to find more information on the genetic condition. Available at: https://pubmed.ncbi.nlm.nih.gov/

• Genetic Testing – learn more about genetic testing and its variability in detecting the 22q11.2 duplication. Available at: https://ghr.nlm.nih.gov/primer/testing/genetictesting

• GeneReviews – a resource with information about genes and associated diseases. Search for “22q11.2 duplication” to find detailed information. Available at: https://www.ncbi.nlm.nih.gov/books/NBK1152/

• Support and Advocacy – find additional resources and support for individuals and families affected by the 22q11.2 duplication. Available at: https://www.22q.org/

• Genetic and Rare Diseases – information about the causes and inheritance of the 22q11.2 duplication. Available at: https://rarediseases.info.nih.gov/diseases/10977/22q112-duplication-syndrome