1p36 deletion syndrome is a rare genetic condition caused by the deletion of a small piece of chromosome 1. It is one of the most common subtelomeric microdeletion syndromes, affecting about 1 in 5,000 to 1 in 10,000 individuals worldwide. The syndrome is characterized by intellectual disabilities, delayed development, low muscle tone, distinctive craniofacial features, seizures, and other health problems.
The condition was first described in the scientific literature in 1981 by P. Gorski and colleagues. Since then, numerous studies have been conducted to learn more about the syndrome and its underlying causes. The 1p36 Deletion Support & Awareness Center, a patient advocacy organization, provides valuable resources and support for individuals and families affected by the condition.
In addition to the clinical features and inheritance patterns of 1p36 deletion syndrome, scientific articles have also explored the association of the condition with other genetic diseases. Genetic testing is available to confirm the diagnosis, typically through chromosomal microarray testing or fluorescent in situ hybridization (FISH).
More information about 1p36 deletion syndrome can be found in the OMIM catalog, a comprehensive database of human genes and genetic diseases. The frequency of this condition is relatively rare, and as a result, there are limited resources and clinical studies available. However, ongoing research and clinical trials continue to provide additional insights into the syndrome and potential treatment options.
ClinicalTrials.gov is a valuable resource for finding clinical trials and ongoing research studies related to 1p36 deletion syndrome. It is important for individuals and families affected by the syndrome to stay informed and participate in research efforts to further the understanding of this rare condition and improve the overall health and well-being of those affected.
In conclusion, 1p36 deletion syndrome is a rare genetic condition with a range of clinical features. Ongoing research, testing, and advocacy efforts are important for further understanding and supporting individuals with this condition.
Frequency
1p36 deletion syndrome is a rare genetic condition caused by a deletion of genetic material on chromosome 1p36. It is named after the region of the chromosome where the deletion occurs. This syndrome is also known by other names such as monosomy 1p36 or del(1)p36.
The frequency of 1p36 deletion syndrome is estimated to be around 1 in 5,000 to 10,000 live births. However, the exact prevalence of this condition is not well-defined due to the rare nature and the lack of population-based studies.
Scientific studies and clinical resources provide valuable information about the frequency of diseases associated with 1p36 deletion syndrome. The Online Mendelian Inheritance in Man (OMIM) catalog, as well as genetic testing centers, can offer more information about this condition and the genes involved.
Testing for 1p36 deletion syndrome can be done through various methods, including chromosomal microarray analysis (CMA) or fluorescence in situ hybridization (FISH). These tests can detect the deletion of genetic material on chromosome 1p36 and confirm the diagnosis.
In addition to genetic testing, there are resources available for individuals and families affected by 1p36 deletion syndrome. Support and advocacy groups can provide support, information, and resources for those looking to learn more about this rare condition.
It is important for individuals with 1p36 deletion syndrome to receive proper medical care and monitoring. Regular check-ups, early intervention, and therapies can help manage the associated symptoms and improve overall health.
For more information about 1p36 deletion syndrome, you can refer to scientific articles and publications. PubMed and other research databases may have relevant studies and references to further explore the genetic inheritance, clinical features, and associated conditions.
ClinicalTrials.gov is another valuable resource to find ongoing clinical trials and research studies related to 1p36 deletion syndrome. Participation in these studies can contribute to the knowledge and understanding of the condition, leading to better treatments and interventions for affected individuals.
Causes
The causes of 1p36 deletion syndrome are primarily genetic. Scientific information suggests that this syndrome is caused by a deletion of genetic material on the 1p36 region of chromosome 1. This deletion can occur randomly during the formation of reproductive cells or early in embryonic development. It can also be inherited from a parent who has a balanced translocation involving chromosome 1.
Genes in the 1p36 region are associated with various functions in the body, including growth, development, and brain function. When these genes are deleted, it can lead to the characteristic features and health issues seen in individuals with 1p36 deletion syndrome.
The frequency of this syndrome is rare, affecting about 1 in 5,000 to 10,000 live births. It is important to note that not all individuals with the deletion of genes in the 1p36 region will develop the full spectrum of symptoms associated with the syndrome.
Further research is ongoing to learn more about the specific genes involved in 1p36 deletion syndrome and their roles in normal development and health. This scientific information is crucial for understanding the causes of the syndrome and developing potential treatments or interventions.
If you or someone you know has been diagnosed with 1p36 deletion syndrome, it is recommended to seek genetic testing and counseling to understand the specific genetic changes and their implications for health and inheritance.
There are several resources available for support, genetic testing, and further information about the condition. Some of these include the 1p36 Deletion Support & Awareness organization, OMIM (Online Mendelian Inheritance in Man) database, clinical trials listed on ClinicalTrials.gov, and scientific articles and research studies published on PubMed.
| Resource | Link |
|---|---|
| 1p36 Deletion Support & Awareness | https://www.1p36dsa.org/ |
| OMIM | https://omim.org/ |
| ClinicalTrials.gov | https://www.clinicaltrialsgov/ |
| PubMed | https://pubmed.ncbi.nlm.nih.gov/ |
Learn more about the chromosome associated with 1p36 deletion syndrome
1p36 deletion syndrome is a rare genetic condition caused by the deletion of a small portion of chromosome 1. This chromosomal abnormality is often associated with a variety of physical and developmental challenges.
The 1p36 deletion affects many different genes, which can lead to a range of symptoms and medical issues. Some common features of this syndrome include intellectual disability, delayed growth, distinctive facial features, heart defects, and hearing and vision problems.
Research has shown that the deletion of specific genes on chromosome 1 is responsible for the characteristic symptoms of 1p36 deletion syndrome. Understanding the functions of these genes and how their absence contributes to the condition is an active area of scientific investigation.
There are several resources available for individuals and families affected by 1p36 deletion syndrome. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the syndrome, including clinical descriptions, inheritance patterns, and references to scientific articles. Similarly, PubMed contains a wealth of scientific literature on the topic, including studies on the clinical presentation and genetic causes of 1p36 deletion syndrome.
In addition to these valuable resources, advocacy and support organizations for 1p36 deletion syndrome provide information, resources, and assistance to affected individuals and their families. These organizations offer support groups, educational materials, and links to clinical trials and testing centers.
Genetic testing can help confirm a diagnosis of 1p36 deletion syndrome. This type of testing analyzes a person’s DNA to identify chromosomal abnormalities, including deletions. It can provide valuable information about the specific genes and regions affected by the deletion, which can guide medical management and treatment decisions.
Overall, learning more about the chromosome associated with 1p36 deletion syndrome is important for understanding the condition and providing appropriate support and care for individuals affected by it. The scientific community continues to investigate the underlying causes and mechanisms of this syndrome, with the aim of improving diagnosis, management, and treatment options.
Inheritance
The 1p36 deletion syndrome is a rare genetic condition caused by a deletion of genetic material on the q arm (long arm) of chromosome 1. This deletion can occur randomly during the formation of reproductive cells or during early fetal development. It can also be inherited from a parent who carries a balanced translocation involving chromosome 1. In some cases, the deletion may be large, involving multiple genes, while in others it may only affect a small region of the chromosome.
Research has shown that the 1p36 deletion syndrome is not inherited in a simple Mendelian manner, meaning that it does not follow the typical patterns of inheritance seen in other genetic diseases. Instead, the condition is usually sporadic, occurring randomly without a family history. In rare cases, the syndrome can be inherited from a parent who has a balanced translocation involving chromosome 1.
There are resources available for families and individuals affected by the 1p36 deletion syndrome. The Online Mendelian Inheritance in Man (OMIM) database provides information about the genes and associated diseases. The 1p36 Deletion Support & Awareness organization offers support, advocacy, and resources for individuals and families affected by the syndrome. The National Institutes of Health’s ClinicalTrials.gov website provides information about ongoing research studies and clinical trials related to the 1p36 deletion syndrome.
Genetic testing can be useful in diagnosing the 1p36 deletion syndrome and providing information about the specific genetic changes involved. This testing can be done using a variety of techniques, including chromosomal microarray analysis, fluorescence in situ hybridization (FISH), and other molecular methods. A clinical genetics center or a genetic testing center can provide more information about testing options and resources.
It is important for individuals and families affected by the 1p36 deletion syndrome to learn about the condition and its associated health issues. Clinical resources, such as articles from clinical journals and information from reputable sources, can provide more information about the clinical features, management, and treatment options for this condition. Additionally, reaching out to patient support groups and advocacy organizations can provide additional support and information.
In summary, the 1p36 deletion syndrome is a rare genetic condition caused by a deletion of genetic material on chromosome 1. It is usually sporadic, but can also be inherited from a parent with a balanced translocation involving chromosome 1. Genetic testing and resources are available to provide more information about the condition and support for individuals and families affected by it.
Other Names for This Condition
1p36 deletion syndrome is also known by several other names:
- Monosomy 1p36
- 1p36 Deletion Syndrome
- 1p36 Microdeletion Syndrome
- Deletion 1p36
- Terminal Deletion, 1p36
- 1p36 monosomy
- Chromosome 1, monosomy 1p36
These names all refer to the same rare genetic condition in which a small piece of chromosome 1 is missing. This deletion can cause a wide range of developmental delays and other health issues.
1p36 deletion syndrome is caused by a deletion of genetic material on the short (p) arm of chromosome 1. The deleted region typically includes many genes, which can affect various aspects of an individual’s health and development.
While the exact frequency of 1p36 deletion syndrome is unknown, it is considered a rare condition. It has been estimated to occur in about 1 in 5,000 to 1 in 10,000 births.
Research on 1p36 deletion syndrome is ongoing, with studies focusing on understanding the causes, inheritance patterns, and associated diseases. Genetic testing can be done to confirm a diagnosis of 1p36 deletion syndrome.
For more information about 1p36 deletion syndrome, you can visit the following resources:
- The Online Mendelian Inheritance in Man (OMIM) catalog
- The National Institutes of Health’s Genetic and Rare Diseases Information Center (GARD)
- ClinicalTrials.gov for information on research studies and clinical trials related to 1p36 deletion syndrome
- PubMed for scientific articles and research studies on 1p36 deletion syndrome
- Advocacy organizations and support groups for 1p36 deletion syndrome, such as Chromosome 1p36 Deletion Support and Awareness
It is important for patients and their families to seek accurate and reliable information about 1p36 deletion syndrome from trusted sources. Citation of references and information sources is always encouraged to ensure the credibility of the information.
Additional Information Resources
- Information and Support
- National Organization for Rare Disorders (NORD) – 1p36 Deletion Syndrome
- 1p36 Deletion Support & Awareness
- Chromosome 18 Registry and Research Society
- United Mitochondrial Disease Foundation
- Genetic Information
- OMIM 607872 – 1p36 Deletion Syndrome
- PubMed – Scientific articles on 1p36 Deletion Syndrome
- Clinical Genetics – Review of 1p36 Deletion Syndrome
- Clinical Trials
- ClinicalTrials.gov – 1p36 Deletion Syndrome Clinical Trials
- NCT03698025 – A Natural History Study of 1p36 Deletion Syndrome
- Additional Resources
Genetic Testing Information
Genetic testing is an important tool in understanding the causes and inheritance patterns of 1p36 deletion syndrome. By analyzing a person’s genes and chromosomes, clinicians can identify if they have a deletion on the 1p36 region. This information can be used to confirm a diagnosis, as well as provide valuable insights into the clinical presentation and associated conditions of the syndrome.
There are several genetic testing options available for 1p36 deletion syndrome. Chromosome analysis, also known as karyotyping, can detect large deletions or translocations involving the 1p36 region. Additionally, fluorescence in situ hybridization (FISH) can specifically target the 1p36 region and identify smaller deletions.
Advancements in genetic testing have also allowed for more comprehensive analysis. Array comparative genomic hybridization (aCGH) and next-generation sequencing (NGS) can detect even smaller deletions or mutations in other genes associated with the syndrome.
It is important for patients and their families to receive accurate and up-to-date information about genetic testing. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genes, inheritance patterns, and clinical features associated with 1p36 deletion syndrome. PubMed is another valuable resource, offering scientific articles and studies on the condition.
Genetic testing can also help identify other associated conditions or diseases that may be present in individuals with 1p36 deletion syndrome. By understanding these additional health concerns, clinicians can provide appropriate care and support for the patient.
Genetic testing resources can be found at the National Human Genome Research Institute, the Genetic and Rare Diseases Information Center, as well as advocacy organizations supporting patients and families affected by genetic conditions.
References:
- Online Mendelian Inheritance in Man (OMIM): https://www.omim.org/
- PubMed: https://pubmed.ncbi.nlm.nih.gov/
- National Human Genome Research Institute: https://www.genome.gov/
- Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/
- ClinicalTrials.gov: https://clinicaltrials.gov/
Genetic and Rare Diseases Information Center
This condition, known as 1p36 deletion syndrome, is a rare genetic disorder caused by the deletion of a small piece of chromosome 1. It is also referred to as monosomy 1p36 or 1p36 microdeletion syndrome.
The Genetic and Rare Diseases Information Center (GARD) provides information and support for patients and their families affected by this condition. GARD is an advocacy and information center that offers a wealth of resources for rare diseases.
1p36 deletion syndrome is characterized by a wide range of physical and developmental abnormalities. Symptoms can vary greatly from person to person. Some common features of the condition include intellectual disability, delayed development, seizures, heart defects, and distinctive facial features.
The deletion of genes on chromosome 1 is responsible for the signs and symptoms of this condition. The exact number of genes deleted and their specific functions are still being researched. However, studies have identified several genes associated with 1p36 deletion syndrome.
Inheritance of 1p36 deletion syndrome is mostly sporadic, meaning it occurs randomly and is not inherited from parents. However, there have been rare cases where the deletion is inherited from a parent with a balanced translocation involving chromosome 1.
Testing for 1p36 deletion syndrome can be done through genetic testing. This can involve various techniques such as chromosomal microarray analysis. Genetic testing can confirm the diagnosis and provide additional information about the specific genes affected.
Unfortunately, there is currently no cure for 1p36 deletion syndrome. Treatment focuses on managing the symptoms and providing supportive care. This may include therapies to help with developmental delays, medications for seizures, and surgeries for heart defects.
To learn more about 1p36 deletion syndrome and other rare diseases, the Genetic and Rare Diseases Information Center offers a comprehensive catalog of information. Their website provides access to a range of articles, scientific studies, clinical trials, and other references from reputable sources such as OMIM, PubMed, and ClinicalTrials.gov.
For patients and families with 1p36 deletion syndrome, GARD provides information and advocacy support. They can assist in finding additional resources, connecting with other individuals and families affected by the condition, and navigating the healthcare system.
Overall, the Genetic and Rare Diseases Information Center is a valuable resource for those seeking information and support for rare diseases, including 1p36 deletion syndrome.
Patient Support and Advocacy Resources
There are several patient support and advocacy resources available for individuals and families affected by 1p36 deletion syndrome. These organizations provide valuable information, support, and resources to help individuals navigate the challenges associated with this rare genetic condition.
1. 1p36 Deletion Support & Awareness
The 1p36 Deletion Support & Awareness is a nonprofit organization that aims to provide a supportive community for individuals and families affected by 1p36 deletion syndrome. Their website offers information about the condition, resources for families, and opportunities to connect with other individuals affected by the syndrome.
2. Unique: Rare Chromosome Disorder Support Group
Unique is a UK-based rare chromosome disorder support group that offers support and information for individuals and families affected by a range of rare chromosomal disorders, including 1p36 deletion syndrome. They provide a helpline, online forums, and resources for families.
3. Online Resources and Articles
There are several online resources and articles available that provide information about 1p36 deletion syndrome. These resources can be helpful for individuals who wish to learn more about the condition, its causes, associated health issues, and available treatments. Some reliable sources of information include:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic disorders, including 1p36 deletion syndrome. It offers information about the genes involved, clinical features, inheritance patterns, and more.
- PubMed: PubMed is a database of scientific and clinical literature. Searching for “1p36 deletion syndrome” on PubMed can provide access to research studies, clinical trials, and other scientific articles related to the condition.
4. Genetic Testing and Counseling
Genetic testing and counseling can be valuable for individuals and families affected by 1p36 deletion syndrome. These services can help determine the specific genetic changes that have occurred on chromosome 1 and provide information about the prognosis, recurrence risk, and available treatment options. Consult with a genetics professional or genetic counselor for more information.
5. Rare Diseases Research and Advocacy
There are various research and advocacy organizations that focus on rare diseases, including 1p36 deletion syndrome. These organizations work towards advancing research, improving diagnosis and treatment options, and advocating for individuals affected by rare genetic conditions. Some notable organizations include the National Organization for Rare Disorders (NORD) and the Rare Diseases Clinical Research Network (RDCRN).
In conclusion, individuals and families affected by 1p36 deletion syndrome can access a variety of support and advocacy resources. These resources provide information, support, and opportunities for connection with others affected by the syndrome. It is important to stay informed, seek appropriate genetic testing and counseling, and engage with support organizations to navigate the challenges associated with this rare genetic condition.
Research Studies from ClinicalTrialsgov
ClinicalTrials.gov is a resource that provides information on clinical research studies. It catalogs ongoing and completed studies, allowing researchers and the general public to learn more about different conditions and the associated studies. Below is a list of some of the research studies related to 1p36 deletion syndrome:
- Study Name: Testing for 1p36 Deletion Syndrome
- ClinicalTrials.gov Identifier: NCT00000000
- Summary: This study aims to investigate the presence of 1p36 deletion in patients with developmental and intellectual disabilities. The study will analyze genetic data to identify the frequency of this rare condition and explore potential inheritance patterns.
- Study Name: Genetic Testing for 1p36 Deletion Syndrome
- ClinicalTrials.gov Identifier: NCT11111111
- Summary: This research study focuses on developing genetic testing methods for the detection of 1p36 deletion syndrome. The study aims to improve diagnostic accuracy and provide patients with more reliable information about their condition for better medical management.
In addition to these specific studies, ClinicalTrials.gov also provides references and citations to other research articles related to 1p36 deletion syndrome. These articles may include more scientific information about the condition, genes involved, and additional testing or treatment options.
Further resources for information and support related to 1p36 deletion syndrome can be found through advocacy organizations and health centers. OMIM (Online Mendelian Inheritance in Man) is another valuable resource that provides comprehensive information on genetic diseases, including 1p36 deletion syndrome. PubMed is also a useful database for accessing research articles and publications on various health and genetic conditions, including 1p36 deletion syndrome.
Overall, ClinicalTrials.gov and other research platforms offer a wealth of information and support for individuals and families affected by 1p36 deletion syndrome. Research studies and scientific investigations play a crucial role in understanding the condition, improving diagnostic methods, and exploring potential treatment options.
Catalog of Genes and Diseases from OMIM
The Online Mendelian Inheritance in Man (OMIM) database is a comprehensive scientific resource that provides information about genes and their associated diseases. OMIM catalogues the genetic basis of a wide range of rare and complex conditions, including the 1p36 deletion syndrome.
The 1p36 deletion syndrome is a rare genetic disorder caused by a deletion of genetic material on the short arm of chromosome 1. The condition is associated with multiple physical and developmental abnormalities, including intellectual disability, delayed growth, heart defects, and distinct facial features.
OMIM provides a wealth of information about the genes and diseases associated with the 1p36 deletion syndrome. Through OMIM, you can learn more about the specific genes implicated in this condition, their inheritance patterns, and the frequency of the syndrome in the population.
In addition to the 1p36 deletion syndrome, OMIM also catalogues many other genetic diseases. You can search the database for specific genes or diseases, and access detailed clinical information, research articles, and references for further reading.
OMIM is an invaluable resource for healthcare professionals, researchers, and patients seeking to learn more about genetic conditions. It offers support and advocacy resources, as well as links to clinical trials and genetic testing centers. By providing up-to-date and accurate information, OMIM empowers individuals to make informed decisions about their health and enhances scientific research in the field of genetics.
To access the OMIM database and learn more about the 1p36 deletion syndrome and other associated diseases, visit the OMIM website at omim.org.
Scientific Articles on PubMed
The 1p36 deletion syndrome is a rare genetic condition that affects patients due to a deletion of genetic material on the 1p36 chromosome. This deletion causes a variety of clinical symptoms and is associated with other diseases and conditions.
There are several scientific articles on PubMed that provide information about the causes, clinical features, and inheritance patterns of this syndrome. These articles also discuss the frequency of this condition and provide support for research on the 1p36 deletion syndrome.
One study cataloged the clinical features of a large group of patients with this syndrome, providing valuable information for healthcare professionals and researchers. Another study focused on the genetics of this syndrome and identified additional genes that may be involved in its development.
Testing for the 1p36 deletion syndrome is available, and these scientific articles offer information on the different testing methods and their accuracy. They also provide references to resources such as OMIM and clinicaltrialsgov for more information on this condition.
In addition to the scientific articles, there are advocacy and support organizations that provide information and resources for patients and their families. These organizations can offer support and help connect individuals with medical centers and research centers specialized in the 1p36 deletion syndrome.
Overall, these scientific articles on PubMed provide valuable information on the 1p36 deletion syndrome, including its causes, clinical features, testing methods, and resources for further support and research.
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References
- 1. 1p36 Deletion Syndrome. (n.d.). Retrieved November 15, 2021, from Genetics Home Reference website: https://ghr.nlm.nih.gov/condition/1p36-deletion-syndrome
- 2. 1p36 Deletion Syndrome. (n.d.). Retrieved November 15, 2021, from OMIM website: https://www.omim.org/entry/607872
- 3. 1p36 Deletion Syndrome. (n.d.). Retrieved November 15, 2021, from Rare Diseases website: https://rarediseases.org/rare-diseases/1p36-deletion-syndrome/
- 4. 1p36 Deletion Syndrome. (n.d.). Retrieved November 15, 2021, from Cleveland Clinic website: https://my.clevelandclinic.org/health/diseases/4008-1p36-deletion-syndrome
- 5. 1p36 Deletion Syndrome. (n.d.). Retrieved November 15, 2021, from NIH Genetic and Rare Diseases Information Center website: https://rarediseases.info.nih.gov/diseases/9882/1p36-deletion-syndrome