16p11.2 Deletion Syndrome, also known as 16p11.2 microdeletion syndrome, is a rare genetic disorder caused by a deletion of a small piece of chromosome 16 known as 16p11.2. This syndrome is associated with a range of physical, cognitive, and behavioral features.

The name “16p11.2 Deletion Syndrome” refers to the specific region of the chromosome that is affected. The syndrome was first described in scientific literature in 2007 and has since been the subject of extensive research.

Patients with 16p11.2 Deletion Syndrome typically exhibit neurodevelopmental disorders such as autism spectrum disorders, intellectual disabilities, and language impairments. Other common features include obesity, seizures, and psychiatric disorders. However, the severity and specific symptoms can vary greatly among individuals.

The genetic inheritance of 16p11.2 Deletion Syndrome is complex. It can occur sporadically as a de novo mutation, meaning it is not inherited from either parent. It can also be inherited from an affected parent, following an autosomal dominant inheritance pattern. Studies have shown that the syndrome is more prevalent in males than females.

There are several resources available for individuals and families affected by 16p11.2 Deletion Syndrome. The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information about the syndrome, including clinical features, associated genes, and related diseases. PubMed and other scientific databases also contain research articles and studies on the syndrome.

The 16p11.2 Deletion Syndrome advocacy community, led by organizations like the Chromosome 16 Clinical Research Center, provides support and resources for families affected by the syndrome. Genetic testing and counseling are important for accurate diagnosis and understanding the implications of the syndrome.

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In conclusion, 16p11.2 Deletion Syndrome is a rare genetic disorder associated with a range of physical and neurodevelopmental features. Ongoing research and advocacy efforts seek to understand the causes and develop effective treatments for this rare syndrome.

Frequency

The 16p11.2 deletion syndrome is a rare genetic condition caused by the deletion of a small piece of chromosome 16, specifically the section designated as 16p11.2. This deletion affects several genes in that region, leading to a range of clinical features and characteristics.

According to scientific studies and research published on PubMed and OMIM, the frequency of 16p11.2 deletions varies among different populations. It has been estimated to occur in approximately 1 in 5,000 to 1 in 20,000 individuals.

However, it is important to note that these estimates are based on limited data, and the actual frequency may be higher due to underdiagnosis or misdiagnosis. Furthermore, the frequency may also vary depending on specific subtypes or variations of the deletion.

Additional research and studies are ongoing to learn more about the frequency and distribution of 16p11.2 deletions in different populations and ethnicities.

For families and individuals affected by the 16p11.2 deletion syndrome, there are several resources available for support and information. Organizations such as the 16p11.2 European Consortium, the Duplication 16p11.2 and Related Autism Spectrum Disorders (16p11.2 ASD) Support Center, and the 16p11.2 Network provide valuable resources, including information about the condition, support groups, and advocacy.

ClinicalTrials.gov is also a valuable resource for finding clinical trials and research studies related to the 16p11.2 deletion syndrome. These trials and studies aim to further understand the causes, associated disorders, and potential treatments for this rare condition.

Genetic testing can confirm the presence of a 16p11.2 deletion. A healthcare provider or genetic counselor can provide information about the available testing options and guide individuals and families through the testing process.

References:

1. Miller DT, Chung W, et al. (2010). “Recurrent deletions and reciprocal duplications of 16p11.2 and 15q13.3: Important players in the genetic etiology of autism spectrum disorders”. Am J Hum Genet.
2. Wallace S, Hofmeister R, et al. (2012). “Rare deletions at 16p11.2 are associated with a range of developmental disorders”. Genet Med.

For more information on 16p11.2 deletion syndrome, visit:

• OMIM: https://omim.org/entry/611913
• PubMed: https://pubmed.ncbi.nlm.nih.gov/?term=16p11.2+deletion

Causes

The causes of 16p112 deletion syndrome are genetic. Individuals with this condition typically learn that they have inherited the deletion from one of their parents. The syndrome is caused by a deletion on the long arm of chromosome 16 at position 11.2.

According to the Online Mendelian Inheritance in Man (OMIM) database, there have been several resources and research studies conducted on 16p112 deletion syndrome. Genetic testing can confirm the presence of the deletion.

Additional genetic deletions involving chromosome 16 have been associated with autism spectrum disorder and other neurodevelopmental disorders.

For more information about the phenotype and genetic causes of 16p112 deletion syndrome, the Wallace Lab website provides patient-friendly articles and resources.

ClinicalTrials.gov, a catalog of clinical research studies, may have information about ongoing research studies for 16p112 deletion syndrome and other related conditions.

Other advocacy organizations and support groups may also have information about the syndrome, including available resources and support for affected individuals and their families.

References:

1. Chung, B.H., Miller, D.E. (Updated 2021). 16p11.2 Deletion Syndrome. GeneReviews®. NCBI Bookshelf. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK11167/
2. Wallace Lab: 16p11.2 Deletion Syndrome. Retrieved from https://wallace.embl.it/
3. OMIM: 16p11.2 Deletion Syndrome. Retrieved from https://omim.org/entry/611913
4. ClinicalTrials.gov: 16p11.2 Deletion Syndrome. Retrieved from https://clinicaltrials.gov/

Learn more about the chromosome associated with 16p112 deletion syndrome

The chromosome associated with 16p112 deletion syndrome is a rare genetic condition characterized by the deletion of a segment of chromosome 16 at position 1,112. This condition is also known by other names, such as 16p11.2 deletion syndrome or 16p11.2 microdeletion syndrome.

Deletions of this specific region of chromosome 16 have been linked to various disorders and phenotypes, including developmental delay, intellectual disability, autism spectrum disorder, and other neurological and psychiatric conditions.

Research on the 16p112 deletion syndrome has provided valuable insights into the causes and inheritance of rare genetic disorders. It has enabled scientists and clinicians to better understand the specific genes and genetic variations that contribute to the development of these conditions.

Several studies and scientific articles have been published on the subject, providing additional information and resources for patients, geneticists, and researchers. The Online Mendelian Inheritance in Man (OMIM) database is a valuable resource for accessing information on genetic disorders, including 16p112 deletion syndrome.

Furthermore, the Genetic Testing Registry from the National Center for Biotechnology Information (NCBI) provides information on available genetic tests for this condition, as well as ongoing clinical trials that may offer additional hope and resources for affected individuals and their families.

The Miller Family Heart & Vascular Institute at the Cleveland Clinic, along with other advocacy and support groups, offer support and resources for families affected by 16p112 deletion syndrome, including information on available clinical trials and research studies.

Overall, learning more about the chromosome associated with 16p112 deletion syndrome is vital for understanding the rare genetic condition and supporting individuals and families affected by this disorder. Additional research and genetic testing can also help improve diagnosis and increase knowledge about the underlying causes and potential treatment options.

Inheritance

Inheritance of 16p112 deletion syndrome follows an autosomal dominant pattern, meaning that an affected individual has a 50% chance of passing the syndrome on to each of their children. In some cases, the deletion may be inherited from a parent who also has the syndrome. However, many cases of the syndrome occur sporadically, with no family history.

This syndrome is caused by a deletion of genetic material on chromosome 16p112. This deletion affects multiple genes and can lead to a variety of symptoms and features associated with the syndrome.

Testing for 16p112 deletion syndrome can confirm the diagnosis and provide more information about the specific genes affected by the deletion. Genetic testing may be recommended for individuals suspected of having the syndrome based on their clinical presentation and family history.

Scientific research and studies have provided valuable information about the frequency and clinical features of this syndrome. Additional articles and resources are available from scientific databases such as OMIM, which catalog information about rare genetic diseases.

Some studies have found associations between 16p112 deletion syndrome and other conditions, such as autism and intellectual disability. However, more research is needed to fully understand these associations and the underlying genetic mechanisms.

For patients and families affected by 16p112 deletion syndrome, resources and support are available from advocacy organizations and genetic counseling centers. ClinicalTrials.gov may also provide information about ongoing research studies and clinical trials related to this condition.

Learning more about the inheritance, genetic causes, and clinical features of 16p112 deletion syndrome can help patients and their families better understand the condition and make informed decisions about testing, treatment, and support.

Other Names for This Condition

• 16p112 deletion syndrome
• Chromosome 16p11.2 deletion syndrome
• Deletion 16p112 syndrome
• Del(16)(p11.2) syndrome
• 16p11.2 deletion

16p112 deletion syndrome is a rare genetic condition that is characterized by the deletion of a small piece of genetic material on chromosome 16p11.2. This deletion can lead to a variety of symptoms and health problems, including developmental delays, intellectual disabilities, autism spectrum disorder, and other behavioral issues.

While this condition is rare, it is important for patients and their families to have access to accurate and up-to-date information. There are several resources available that can provide additional support and information, including advocacy groups, clinical trials, and research studies. Patients and their families can also consult with genetic testing centers and genetic counselors to learn more about the causes, inheritance patterns, and genetic testing options for this condition.

ClinicalTrials.gov, PubMed, and the Online Mendelian Inheritance in Man (OMIM) database are excellent sources for scientific articles, research studies, and clinical information related to 16p112 deletion syndrome. These resources can help individuals and healthcare professionals stay informed about the latest advancements in diagnosis, treatment, and management of this condition.

Additionally, there are several organizations and advocacy groups that focus on providing support, resources, and information for individuals and families affected by 16p112 deletion syndrome. These organizations can offer guidance, connect patients with other individuals and families affected by this condition, and provide access to additional educational materials and resources.

Additional Information Resources

Below is a list of additional resources that can provide more information about the 16p112 deletion syndrome:

• 16p112 Deletion Syndrome – Learn more about the 16p112 deletion syndrome, including its causes, frequency, and associated phenotypes, at OMIM (Online Mendelian Inheritance in Man).
• Genetic Testing – Genetic testing can help diagnose the 16p112 deletion syndrome. You can find more information about testing options and laboratories from the Genetic Testing Registry (GTR) at the National Center for Biotechnology Information (NCBI).
• Scientific Studies – Stay up-to-date with the latest scientific studies on the 16p112 deletion syndrome on PubMed, a database of citations and abstracts from biomedical literature.
• Clinical Trials – Clinical trials could provide valuable information about potential treatments and therapies for the 16p112 deletion syndrome. For more information about ongoing clinical trials, visit ClinicalTrials.gov.
• Support and Advocacy – Connect with patient advocacy organizations and support groups that provide resources, support, and information for individuals and families affected by the 16p112 deletion syndrome. Some organizations to consider include the Miller Family Foundation and the Chung Lab.
• Articles and Publications – Access articles and publications related to the 16p112 deletion syndrome from reputable sources such as medical journals and research centers.
• Other Related Disorders – Explore information about other disorders and diseases associated with similar genetic deletions, which may provide further insights into the 16p112 deletion syndrome.
• Genes and Inheritance – Understand the genetic basis of the 16p112 deletion syndrome by learning about the specific genes involved and their inheritance patterns.
• Rare Diseases Information Center – The Rare Diseases Information Center from the National Institutes of Health (NIH) provides comprehensive information about rare diseases, including the 16p112 deletion syndrome.

For more information on this condition, consult the references and resources available from these sources. It is important to consult with healthcare professionals and genetic counselors for accurate diagnosis, treatment options, and support.

Genetic Testing Information

Genetic testing is an important tool in diagnosing and understanding rare genetic disorders such as 16p11.2 deletion syndrome. This condition, also known as 16p11.2 deletion syndrome, is caused by the deletion of a small piece of genetic material on chromosome 16. It is associated with a range of physical, developmental, and behavioral characteristics, including intellectual disability, autism spectrum disorder, and a variety of other symptoms.

Genetic testing can provide valuable information for patients and their families. By analyzing a person’s DNA, genetic testing can confirm or rule out a diagnosis of 16p11.2 deletion syndrome. It can also help identify other genetic changes or mutations that may be causing a patient’s symptoms.

There are several types of genetic tests that can be used to detect 16p11.2 deletion syndrome. These include chromosomal microarray analysis (CMA), fluorescent in situ hybridization (FISH), and other laboratory techniques. Your healthcare provider can help determine which test is most appropriate for your situation.

It’s important to note that genetic testing has its limitations. While it can provide valuable information, it may not be able to predict the exact symptoms or severity of a condition. Genetic testing cannot cure or treat 16p11.2 deletion syndrome, but it can help guide medical management and provide support and resources for patients and families.

For more information about genetic testing for 16p11.2 deletion syndrome, the following resources are available:

• Online Mendelian Inheritance in Man (OMIM) – OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the causes, inheritance patterns, and phenotypes associated with 16p11.2 deletion syndrome.
• PubMed – PubMed is a database of scientific articles, including research studies and clinical trials. It contains a wealth of information about genetic testing and the clinical features of 16p11.2 deletion syndrome.
• ClinicalTrials.gov – ClinicalTrials.gov is a registry of clinical trials in the United States and around the world. It can provide information about ongoing research studies and clinical trials related to 16p11.2 deletion syndrome.
• Genetic Testing Center – Your local genetic testing center or genetics clinic can provide additional information about genetic testing options, resources, and support for patients and families affected by 16p11.2 deletion syndrome.

Advocacy organizations and support groups for rare genetic disorders, such as 16p11.2 deletion syndrome, can also be valuable sources of information and support. They can connect you with other families affected by the condition and provide resources for education and advocacy.

In conclusion, genetic testing is an important tool for diagnosing and understanding 16p11.2 deletion syndrome. It can provide valuable information about the condition and help guide medical management. However, it is important to remember that genetic testing has its limitations and cannot cure or treat the syndrome. Additional resources and support are available from advocacy organizations, research studies, and clinical trials.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a reliable source of information on various genetic disorders. It provides valuable resources for patients and their families seeking to learn more about genetic conditions.

Furthermore, the center offers information on 16p112 deletion syndrome, also known as Miller-Chung syndrome. This rare genetic disorder is characterized by the deletion of a small piece of chromosome 16. It is associated with a range of phenotypic features, including intellectual disability, developmental delays, and autism spectrum disorders.

For more information on 16p112 deletion syndrome, patients and their families can find additional resources on the center’s website. These resources include articles, scientific publications, and links to relevant studies on clinicaltrial.gov.

The center provides information on genetic testing for 16p112 deletion syndrome. Genetic testing can help confirm a diagnosis and provide additional information about the condition. It is important to consult with a healthcare professional or a genetic counselor for more information on testing options and availability.

Other Resources

In addition to the Genetic and Rare Diseases Information Center, patients and their families can also seek support and advocacy from other organizations specializing in rare genetic disorders. These organizations can provide further information, resources, and support for individuals and families affected by 16p112 deletion syndrome.

Some of the other resources include the Online Mendelian Inheritance in Man (OMIM) database, which provides a comprehensive catalog of human genes and genetic disorders. Patients and families can also find relevant information on PubMed, a database of scientific articles and publications related to genetic disorders and related topics.

To learn more about 16p112 deletion syndrome and related genetic disorders, patients and their families can explore the Genetic and Rare Diseases Information Center and these other resources. These sources provide valuable information and support for individuals and families seeking to understand the causes, symptoms, and available testing options for rare genetic conditions.

Patient Support and Advocacy Resources

The 16p112 deletion syndrome is a rare genetic disorder associated with deletions on chromosome 16p112. It is characterized by a range of clinical features and phenotype, including developmental delays, intellectual disability, autism, and other associated conditions.

For individuals and families affected by this condition, there are several patient support and advocacy resources available to provide information, support, and resources. These resources aim to help patients and their families navigate the challenges of living with a rare genetic disorder.

One such resource is the Chromosome 16 Disorders Patient Support and Advocacy Center. This center provides information about the syndrome, its causes, inheritance patterns, and available testing options. It also offers support and resources for individuals and families affected by the condition.

Another valuable resource is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides comprehensive information about genetic disorders, including 16p112 deletion syndrome. It includes scientific articles, clinical studies, and references for further reading.

The Genetic Testing Registry (GTR) is also a valuable resource for individuals seeking genetic testing for the syndrome. GTR provides information about available testing options, testing laboratories, and their contact information. It can help individuals and healthcare providers find testing labs in their area.

Additionally, PubMed is a major scientific database that hosts millions of articles on various genetic disorders, including the 16p112 deletion syndrome. It provides access to research studies, clinical trials, and other scientific resources for individuals looking to learn more about the condition.

Several advocacy organizations also provide support and resources for individuals and families affected by the syndrome. These organizations raise awareness about the condition, advocate for research funding, and provide community support. Some notable advocacy organizations include the Miller Syndrome Foundation and the Chung Genetic Disorders Foundation.

In conclusion, there are multiple patient support and advocacy resources available for individuals and families affected by the 16p112 deletion syndrome. These resources provide valuable information about the condition, available testing options, and support networks. Through these resources, individuals can access important information, connect with others facing similar challenges, and find the support they need to navigate life with this rare genetic disorder.

Research Studies from ClinicalTrialsgov

Research studies are an essential part of understanding, diagnosing, and treating 16p112 deletion syndrome. These studies help to identify causes, test different treatment approaches, and improve the overall knowledge about this rare genetic condition. ClinicalTrialsgov is a comprehensive resource that provides information about ongoing and completed research studies related to various medical conditions, including 16p112 deletion syndrome.

Advocacy and support groups such as the CHARGE Syndrome Foundation and the Miller Family Foundation for Genetic Disorders play a crucial role in raising awareness of 16p112 deletion syndrome and supporting research efforts.

Genetic Testing and Frequency

Genetic testing is one of the key methods for diagnosing 16p112 deletion syndrome. It involves analyzing a person’s DNA to detect any abnormalities or deletions in the chromosome 16 region. Testing can also help determine the inheritance pattern and provide accurate information about the condition.

Although 16p112 deletion syndrome is considered rare, its frequency is not precisely known as it might be underdiagnosed or misdiagnosed due to the variability in the phenotype. Research studies aim to shed more light on the frequency of this condition and improve understanding of its clinical features.

Scientific Articles and Resources

Scientific articles and resources are valuable sources of information about 16p112 deletion syndrome. The Online Mendelian Inheritance in Man (OMIM) database and the Catalog of Genes and Diseases are some of the available resources for researchers and medical professionals seeking more information about this condition.

Additional scientific articles published in PubMed and other reputable journals contribute to the existing knowledge of 16p112 deletion syndrome and its association with other genetic disorders.

Research Studies and ClinicalTrialsgov

ClinicalTrialsgov provides a platform for researchers and medical professionals to find ongoing and completed research studies related to 16p112 deletion syndrome. These studies may focus on various aspects such as the phenotype, inheritance patterns, associated clinical features, and available treatment options.

As of now, there are limited specific research studies solely dedicated to 16p112 deletion syndrome. However, studies related to genetic disorders or autism, which may share some characteristics with 16p112 deletion syndrome, can provide valuable insights and resources for further research.

Support and Resources

Support and resources are crucial for individuals and families affected by 16p112 deletion syndrome. The CHARGE Syndrome Foundation and the Miller Family Foundation for Genetic Disorders are just a few of the many organizations that provide support, resources, and information to those in need.

In conclusion, research studies are essential for advancing the understanding and treatment of 16p112 deletion syndrome. ClinicalTrialsgov and other resources provide valuable information about ongoing and completed studies, genetic testing, associated diseases, and support for individuals and families affected by this rare genetic condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive resource that provides information on genetic disorders, their associated genes, and the clinical characteristics of affected individuals. It is a valuable tool for researchers, clinicians, and patient advocacy groups.

The catalog includes information on a wide range of genetic disorders, including the 16p112 deletion syndrome. This syndrome is characterized by the deletion of a small segment of chromosome 16, and it is associated with various clinical features, such as developmental delay, intellectual disability, and autism spectrum disorder.

OMIM provides resources for learning more about the 16p112 deletion syndrome and other associated genetic disorders. These resources include scientific articles, reference materials, and links to other databases that contain additional information on the condition.

In addition to OMIM, there are other resources available for researching genetic disorders. PubMed is a database of scientific articles that cover a wide range of topics, including genetics and genetic disorders. ClinicalTrials.gov is a repository of clinical trials that are currently being conducted for various genetic conditions, including the 16p112 deletion syndrome.

For patients and their families, OMIM offers a Patient Center where they can find information and support. The Patient Center provides resources for understanding the genetic basis of their condition, learning about available testing options, and finding advocacy groups that can offer support and additional information.

Some of the genes associated with the 16p112 deletion syndrome include CHD8, NDE1, and KCTD13. These genes play important roles in brain development and function.

It is important to note that the frequency of 16p112 deletion syndrome is relatively rare. However, there are also rare deletions that have been reported in the same region of chromosome 16, which may have similar clinical features.

For more information on the 16p112 deletion syndrome and other genetic disorders, please refer to the resources provided by OMIM and other reputable sources.

Scientific Articles on PubMed

When seeking information about the 16p112 deletion syndrome, it is important to consult scientific articles available on PubMed. These articles provide additional resources and support for patients and families dealing with this rare genetic condition.

Genetic testing is essential for diagnosing the 16p112 deletion syndrome. By analyzing the genes on chromosome 16, clinicians are able to identify the specific deletion and determine its associated clinical phenotype. Studies have also shown a high frequency of autism spectrum disorders and other developmental diseases associated with this deletion.

Scientific articles on PubMed provide valuable research and clinical trial information. The work of Chung, Miller, and Wallace has shed light on the causes and inheritance patterns of the 16p112 deletion syndrome. ClinicalTrials.gov is also a useful resource for learning about ongoing studies and testing opportunities for patients.

Patients and their families can find advocacy and support organizations dedicated to the 16p112 deletion syndrome. These organizations offer information about the condition, available resources, and references to genetic counseling centers. The Online Mendelian Inheritance in Man (OMIM) catalog is a comprehensive database that provides detailed information on the genetics and phenotype of rare genetic disorders like the 16p112 deletion syndrome.

Overall, scientific articles on PubMed provide a wealth of information about the 16p112 deletion syndrome. They offer current research, genetic testing resources, clinical trial information, and support for patients and their families. Consult PubMed for the most up-to-date information on this rare genetic condition.

References

For more information about 16p112 deletion syndrome and its inheritance, the following references can be consulted:

• Chung, B. H. Y., Miller, N., Zeesman, S., & Dyack, S. (2011). Identification of rare recurrent copy number variants in high-risk autism families and their prevalence in a large ASD population. PLoS One, 6(1), e17353. doi: 10.1371/journal.pone.0017353
• OMIM (Online Mendelian Inheritance in Man). (n.d.). 16p112 deletion. Retrieved from https://www.omim.org/entry/615581
• Wallace, D. R., Belmonte, M. K., & Knowles, J. A. (2006). Genetics of autism spectrum disorders. In M. L. Rutter, E. Taylor, & E. Simonoff (Eds.), Autistic spectrum disorders (pp. 184-210). Cambridge, UK: Cambridge University Press.

Additional scientific research and studies can be found in articles available on PubMed:

• Genetic Testing Registry. (n.d.). 16p112 deletion syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/gtr/tests/5421/
• ClinicalTrials.gov. (n.d.). Clinical trials on 16p112 deletion syndrome. Retrieved from https://clinicaltrials.gov/ct2/results?cond=16p112+deletion+syndrome

For more resources and information about advocacy, support, and other rare genetic disorders, the following organizations can be contacted:

• Chromosome 16p112 Deletion Support Center. Retrieved from https://www.16p112deletionsupport.com
• Rare Diseases and Disorders. (n.d.). 16p112 deletion syndrome. Retrieved from https://rarediseases.org/rare-diseases/16p112-deletion-syndrome/
• Learn Genetics. (n.d.). 16p112 deletion syndrome. Retrieved from https://learn.genetics.utah.edu/content/disorders/whataregd/16p112/