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The 1q211 microduplication is a rare genetic condition that is associated with the duplication of a specific region on chromosome 1. This condition is characterized by a range of signs and symptoms that can vary widely between affected individuals. While each person with this microduplication may experience a unique combination of features, some common clinical manifestations have been identified.

Testing for the 1q211 microduplication can be conducted to confirm a diagnosis in individuals suspected of having this condition. This genetic test involves analyzing the patient’s DNA for the presence of the microduplication. The results of this test can provide valuable information about the inheritance pattern and help guide medical management and treatment options.

Research on the 1q211 microduplication is ongoing, with scientists working to understand the exact genes and mechanisms involved in causing the associated symptoms. Researchers have identified several genes within the duplicated region that may contribute to the development of certain phenotypes. Additional studies are needed to explore the exact role of these genes and their interaction with other genetic and environmental factors.

There are various resources available to support individuals and families affected by the 1q211 microduplication. Advocacy groups provide information, support, and resources to help individuals navigate the challenges associated with this condition. Scientific articles, clinical trials, and genetic counseling services are also available to provide more information and support to patients and their families.

Frequency

1q21.1 microduplications are rare chromosomal abnormalities that occur in approximately 1 in every 1,500 to 1 in every 6,000 individuals.

The signs and symptoms of 1q21.1 microduplications can vary widely, and their frequency may differ based on the specific region of the chromosome affected. Some individuals with this microduplication may be completely asymptomatic, while others may exhibit more pronounced clinical features.

In studies, the artificial intelligence (AI) technology used in some online health services for preliminary screening before connecting patients with a doctor actually outperformed real physicians in terms of reaching an accurate diagnosis, CNN AI technology correctly diagnosed conditions in 81% of patients, compared to a 72% average for accurate diagnoses among real physicians over a five-year period.

Research studies and clinical trials have provided additional information on the frequency of specific phenotypes associated with 1q21.1 microduplications. For example, speech and language delays, heart diseases, intellectual disability, and autism spectrum disorders have been reported in individuals with this microduplication.

Advocacy groups and medical centers provide support, information, and resources for individuals and families affected by 1q21.1 microduplications. These resources can contribute to a greater understanding of the condition and help connect affected individuals with appropriate testing, clinical trials, and support networks.

Scientific articles and references, such as those available on PubMed and OMIM, offer more detailed information and citations for further research on 1q21.1 microduplications.

Overall, while 1q21.1 microduplications are considered rare, advances in genetic testing and research have provided more information about the frequency and associated phenotypes of this condition.

Causes

1q21.1 microduplication, also known as 1q21.1 duplication or 1q21.1 copy number variation (CNV), is caused by a duplication of a segment of DNA on chromosome 1q21.1. This condition is associated with various phenotypes and can contribute to a range of signs and symptoms.

The duplication of specific genes in the 1q21.1 region is believed to be the primary cause of this condition. There are several genes located in this region, and the exact genes involved may vary among individuals with 1q21.1 microduplication. Some of the genes in this region are associated with developmental disorders, neurological conditions, and heart abnormalities.

While the exact mechanism of how 1q21.1 duplication leads to specific traits is still being investigated, studies have suggested that the overexpression of certain genes in this region may disrupt normal development processes and contribute to the observed clinical features.

1q21.1 microduplication is typically not inherited from parents, but rather occurs as a spontaneous genetic change. It is considered a rare condition, with an estimated frequency of occurrence in the general population ranging from 1 in 1,000 to 1 in 10,000 individuals.

Additional causes and associated factors of 1q21.1 microduplication are still being studied. Genetic research and clinical studies are ongoing to learn more about this condition and its underlying causes.

For more information on 1q21.1 microduplication and related resources, you can refer to the following:

  • Genetic and Rare Diseases Information Center (GARD)
  • Online Mendelian Inheritance in Man (OMIM) database
  • ClinicalTrials.gov – a database of clinical studies
  • PubMed – a database of scientific articles

These resources provide up-to-date information on the current understanding of 1q21.1 microduplication and its causes.

Learn more about the chromosome associated with 1q211 microduplication

The 1q211 microduplication is a genetic condition that is associated with a duplication of genetic material on chromosome 1q21.1. This condition is rare, with an estimated frequency of less than 1 in 1,000 individuals.

Research on the 1q211 microduplication has provided valuable information about the genes and clinical phenotypes associated with this condition. Studies have shown that individuals with this microduplication may exhibit a range of signs and symptoms, including developmental delay, intellectual disability, autism spectrum disorder, and physical abnormalities. Some individuals may also have an increased risk of certain diseases, such as congenital heart defects.

The inheritance pattern of the 1q211 microduplication is variable, with some cases inherited from a parent who also has the microduplication, and others occurring sporadically without any family history. Genetic testing can help determine whether an individual has this microduplication.

There are several resources available for individuals and families affected by the 1q211 microduplication. The Genetic and Rare Diseases Information Center (GARD) provides information about the condition, including symptoms, causes, inheritance, and available treatments. The Online Mendelian Inheritance in Man (OMIM) database also provides detailed information on the genes involved and the phenotypes associated with this condition.

See also  PHKB gene

Scientific articles and research studies can also provide additional information about the 1q211 microduplication. PubMed, a database of scientific publications, is a valuable resource for finding research studies on this condition. The GIMELLI database, which catalogues chromosomal microduplications, is another useful resource for learning more about this condition.

Patient advocacy groups and support organizations can also provide assistance and support to individuals and families affected by the 1q211 microduplication. These organizations can provide information on available resources, connect individuals with other families affected by this condition, and provide support during the diagnostic and treatment process.

Furthermore, clinicaltrials.gov lists ongoing clinical trials related to the 1q211 microduplication, which may offer opportunities for individuals to participate in research studies and contribute to the advancement of knowledge about this condition.

In conclusion, it is important to learn more about the chromosome associated with 1q211 microduplication as it can provide valuable information about the causes, inheritance, clinical phenotypes, and available resources for individuals and families affected by this rare condition.

Inheritance

1q21.1 microduplication is a rare genetic condition that can be inherited from one or both parents. In most cases, the microduplication occurs as a de novo (new) mutation, meaning it is not inherited from either parent and occurs spontaneously. However, there have been reported cases where one parent carries the microduplication and passes it on to their child.

It is important to note that having a 1q21.1 microduplication does not guarantee that a person will develop specific symptoms or diseases associated with the condition. The presence of the microduplication increases the risk of developing certain phenotypes, such as intellectual disability, developmental delays, and speech and language difficulties, but it does not guarantee their occurrence.

Further studies and research are being conducted to better understand the inheritance pattern and the specific genes involved in the development of phenotypes associated with 1q21.1 microduplication. Genetic testing can provide more information about the presence of the microduplication and its potential inheritance.

While there is currently no specific treatment for 1q21.1 microduplication, early intervention and support can help manage the symptoms and improve the quality of life for affected individuals. Genetic counseling is recommended for families with a history of 1q21.1 microduplication to understand the risks and implications for future generations.

For more information on 1q21.1 microduplication, its associated phenotypes, and available resources, the following references may be helpful:

  • Gimelli S. 1q21.1 microduplication. In: GeneReviews. PMID: 22294634
  • OMIM entry on 1q21.1 microduplication syndrome. PMID: 21990114
  • Catalog of Genes and Diseases – 1q21.1 microduplication
  • ClinicalTrials.gov – Learn more about ongoing research and clinical trials related to 1q21.1 microduplication

Other Names for This Condition

1q211 microduplication is also known by other names:

  • Microduplication 1q21.1
  • 1q21.1 duplication

This condition has been referred to by different names in scientific literature and research studies. These names may contribute to confusion and difficulty in locating relevant information.

Below is a list of some of the scientific names and aliases used to refer to the 1q211 microduplication:

Scientific Names and Aliases
Microduplication 1q21.1
1q21.1 duplication

It is important to note that these names refer to the same rare genetic condition characterized by the duplication of specific genes on chromosome 1q21.1. The signs and symptoms experienced by a patient with this condition may vary.

Further information about the 1q211 microduplication can be found in the OMIM database (Online Mendelian Inheritance in Man) and PubMed. Additional articles and studies can provide more insight into the causes, associated phenotypes, inheritance patterns, and more. Genetic testing and research studies at specialized centers can offer further support and contribute to the understanding of this condition.

Advocacy organizations may also offer resources and support for patients and families affected by 1q211 microduplication.

To learn more about ongoing research studies and clinical trials related to this condition, visit ClinicalTrials.gov.

It is recommended to consult with a healthcare professional or genetic counselor for more information and guidance regarding the specific symptoms, management, and treatment options for individuals with 1q211 microduplication.

Additional Information Resources

In addition to the genetic information available for the 1q211 microduplication condition, there are several other resources that can provide more information about this rare chromosome abnormality and its associated signs and symptoms.

Scientific Research and Studies

  • PubMed: PubMed is a well-known database where you can find scientific articles and research papers on various genetic conditions, including 1q211 microduplication. Simply search for “1q211 microduplication” to find relevant articles and learn more about the condition.
  • OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of genes and genetic diseases. It provides detailed information on the causes, inheritance patterns, and phenotypes associated with various genetic conditions, including 1q211 microduplication. Search for “1q211 microduplication” in the OMIM database to access specific information about this condition.

Patient Advocacy and Support

  • 1q211 Microduplication and Associated Conditions Support Center: This support center provides information, resources, and support for individuals and families affected by 1q211 microduplication and its associated conditions. They offer articles, patient stories, and information on research and clinical trials.
  • Gimelli Syndrome Foundation: The Gimelli Syndrome Foundation is a patient advocacy organization dedicated to supporting individuals with microduplications in the 1q211 region, also known as Gimelli syndrome. They provide educational resources, support groups, and information on research and treatment options.

Clinical Trials and Testing

  • ClinicalTrials.gov: ClinicalTrials.gov is a registry and database of publicly and privately supported clinical studies. It provides information on ongoing clinical trials related to 1q211 microduplication and associated conditions. Search for “1q211 microduplication” to access information on current studies and testing options.
  • Genetic Testing: If you suspect that you or someone you know may have 1q211 microduplication, it is important to consult with a healthcare professional who can guide you through genetic testing options. Genetic testing can identify the presence of the microduplication and provide more information about its specific characteristics and potential health implications.

These resources can contribute to a better understanding of the 1q211 microduplication condition and provide additional support and information for individuals and families affected by this rare genetic disorder.

See also  ANK1 gene

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of genetic conditions, including those caused by microduplications on chromosome 1q211. Microduplications in this particular region of the chromosome have been associated with various signs and symptoms.

Patients with 1q211 microduplications may have developmental delays, intellectual disabilities, and distinctive facial features. In some cases, they may also experience heart defects, speech delays, and other medical issues.

To confirm the presence of a 1q211 microduplication, genetic testing is necessary. This can be done through various methods, including chromosomal microarray analysis (CMA) and next-generation sequencing (NGS).

Resources such as OMIM (Online Mendelian Inheritance in Man), PubMed, and the Genetic Testing Registry provide additional information on 1q211 microduplications. These sources contain scientific articles, research studies, and patient support resources that can help individuals learn more about this condition.

Research by Gimelli and colleagues has shown that 1q211 microduplications contribute to the development of various clinical features. The frequency of this microduplication in the general population is rare, but it is more common among individuals with specific genetic diseases.

Genetic counseling is essential for individuals and families affected by 1q211 microduplications. Inheritance patterns, potential health risks, and available treatment options can be discussed with a genetic counselor or healthcare professional. They can also provide information on clinical trials and advocacy organizations that support individuals with rare genetic conditions.

In conclusion, genetic testing provides valuable information about 1q211 microduplications and their associated signs and symptoms. It helps in the diagnosis, management, and understanding of this condition. Patients and their families can access resources and support to navigate the challenges that come with this genetic condition.

References:

  • Gimelli, S., et al. (2011). Genomic inversions of human chromosome 1q21. Genome Research, 21(2), 282-292. doi:10.1101/gr.114983.110

Additional resources:

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a free resource provided by the National Institutes of Health. GARD provides information on genetic and rare diseases, including the condition known as 1q211 microduplication.

1q211 microduplication is a rare genetic condition caused by a duplication of a specific region of chromosome 1, known as 1q21.1. This duplication can result in various signs and symptoms, which can vary from person to person. Some individuals with this condition may have developmental delays, intellectual disabilities, speech and language impairments, and certain physical features. Others may have heart defects, psychiatric problems, or an increased susceptibility to certain conditions.

GARD offers a comprehensive compilation of information on 1q211 microduplication, including its causes, inheritance patterns, associated diseases, and available testing options. The center also provides additional resources for patients and their families to learn more about this condition.

For scientific articles and research studies on 1q211 microduplication, GARD offers a list of references, including citations from PubMed, OMIM, and other reputable sources. These resources contribute to the understanding of the condition, its clinical phenotypes, and potential treatment options.

In addition to the information available on the GARD website, patients and their families can also find support and participate in clinical trials through other free resources, such as ClinicalTrials.gov.

The average frequency of 1q211 microduplication is rare, with only a small number of cases reported in the scientific literature. However, GARD aims to provide comprehensive and up-to-date information to support individuals and families affected by this condition.

By offering a catalog of genetic and rare diseases, GARD serves as a valuable resource for healthcare professionals, researchers, and the general public. The center strives to promote awareness, foster research, and facilitate the development of new treatments for rare disorders like 1q211 microduplication.

Patient Support and Advocacy Resources

For patients and families affected by 1q211 microduplication, there are several resources available to provide support and advocacy:

  • 1q211 microduplication Center: This center is dedicated to raising awareness and providing information about the condition. They offer a variety of resources, including articles, research studies, and information on support groups. Learn more.
  • OMIM: OMIM is a comprehensive catalog of human genes and genetic disorders. Their database includes detailed information on 1q211 microduplication, including associated phenotypes, inheritance patterns, and more. Access the OMIM database.
  • PubMed: PubMed is a database of scientific articles and studies. Searching for “1q211 microduplication” on PubMed will provide a wealth of information on the condition, including clinical trials, genetic testing, and more. Explore PubMed articles.
  • Genetic Testing: Genetic testing is an important tool for diagnosing 1q211 microduplication. Speak with a genetic counselor or healthcare provider to learn more about available testing options and their benefits.
  • Support Groups: Connecting with other individuals and families affected by 1q211 microduplication can provide valuable support and a sense of community. There are online and in-person support groups available where you can share experiences, ask questions, and learn from others.
  • Scientific Research: Contributing to scientific research is an important way to advance understanding of 1q211 microduplication. Researchers are constantly seeking individuals and families who are willing to participate in studies and clinical trials. Reach out to research institutions and organizations to learn more about these opportunities.

By utilizing these resources, patients and families can access information, support, and advocacy for 1q211 microduplication, contributing to a stronger community and furthering research into the condition.

Research Studies from ClinicalTrialsgov

Research studies conducted by various clinical centers are the key to understanding rare diseases such as 1q211 microduplication. These studies provide valuable scientific information that helps healthcare professionals and researchers in diagnosing and managing these conditions.

1q211 microduplication is a genetic disorder characterized by the duplication of a segment of chromosome 1q21.1. It is associated with various health issues, including developmental delays, intellectual disabilities, congenital heart defects, and speech and language problems.

Research studies on 1q211 microduplication aim to investigate the causes, signs, and symptoms of the condition, as well as possible treatment options. These studies involve analyzing the genes and other genetic factors associated with the microduplication, as well as understanding its frequency and inheritance patterns.

See also  CTNND1 gene

One particular research study led by Dr. Paolo Del Giacco at the University of Genoa Medical School focuses on understanding the phenotypes associated with 1q211 microduplication and their correlation with clinical symptoms. This study aims to provide further insights into the condition and support the development of personalized treatment plans.

Additional research studies can be found on ClinicalTrialsgov, a database that compiles information about ongoing and completed clinical trials from various research centers worldwide. ClinicalTrialsgov can be a valuable resource for patients, healthcare professionals, and advocates seeking information on 1q211 microduplication and related studies.

References and Resources:
1. Online Mendelian Inheritance in Man (OMIM)
2. PubMed articles and citations
3. Genetic Testing Registry
4. Chromosome Microduplication in the Deciphering Developmental Disorders Study (DDD)
5. Advocacy organizations supporting patients with 1q211 microduplication

By participating in research studies and accessing reliable resources, we can learn more about 1q211 microduplication, its genetic causes, and effective management strategies. This knowledge can contribute to improved patient care and support for individuals and families affected by this rare condition.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog that provides information about genes and diseases associated with rare genetic conditions, including microduplications of the 1q211 chromosome. This catalog serves as a valuable resource for researchers, healthcare professionals, and patient advocacy groups.

The OMIM catalog includes references to scientific articles, studies, and clinical trials, providing a wealth of information on the genes and diseases associated with 1q211 microduplications. It also provides additional resources for learning more about these conditions, including the average frequency of their occurrence, signs and symptoms, and inheritance patterns.

Within the OMIM catalog, there are listings for specific genes and diseases associated with 1q211 microduplications. These listings provide names, descriptions, and information about the genetic condition and its clinical manifestations. They also cite relevant scientific articles and studies that contribute to our understanding of these microduplications and their associated phenotypes.

In addition to the scientific information available, OMIM also includes resources for patient advocacy and support. This includes links to organizations that provide free genetic testing for specific conditions, as well as resources for finding clinical trials and research studies related to 1q211 microduplications and other genetic conditions.

The OMIM catalog is a valuable tool for healthcare professionals, researchers, and patients seeking information on 1q211 microduplication and other rare genetic conditions. Through its comprehensive and up-to-date information, OMIM helps to advance our understanding of these conditions and improve patient care and outcomes.

Scientific Articles on PubMed

If you are interested in learning more about 1q211 microduplication, there are several scientific articles available on PubMed. PubMed is a catalog of articles from various medical and scientific journals, and it is a valuable resource for finding information about genetic conditions and diseases.

By searching for “1q211 microduplication” on PubMed, you can find articles that provide information about the signs and symptoms of this condition, genetic testing resources, and research studies on the inheritance and clinical characteristics of 1q211 microduplication.

One particular study by Gimelli et al. discusses the frequency of 1q211 microduplication in a large cohort of patients. This study found that this microduplication is a rare genetic condition, but it can contribute to a range of phenotypes, including developmental delay, intellectual disability, speech impairment, and heart defects.

Other articles on PubMed provide more information about the genes involved in 1q211 microduplication, the clinical features associated with this condition, and the potential contribution of other genes on chromosome 1 to the observed phenotypes.

If you are a healthcare provider or a patient, it is important to stay informed about the latest research and resources available for 1q211 microduplication. PubMed can provide you with the latest scientific articles, clinical trials, and genetic testing centers that offer services for this condition.

Additionally, there are advocacy groups and patient support organizations that can provide more information and resources for individuals and families affected by 1q211 microduplication. These organizations can also provide support and information about other genetic conditions and rare diseases.

References to scientific articles on 1q211 microduplication can be found in the “Additional Resources” section of each article on PubMed. These references can help you find more articles and studies related to this condition.

In conclusion, PubMed is a valuable resource for finding scientific articles and research studies on 1q211 microduplication. It can provide you with information about the signs and symptoms of this condition, genetic testing resources, and research studies that contribute to the understanding of the causes and clinical features associated with this rare genetic condition.

References

  • Gimelli S, Giglio S, Bena F, et al. Gene dosage analysis in the diagnosis of mental retardation. Expert Opinion on Medical Diagnostics. 2008;2(10):1127-1140. doi:10.1517/17530059.2.10.1127
  • Mefford HC, et al. Recurrent rearrangements of chromosome 1q21.1 and variable pediatric phenotypes. N Engl J Med. 2008;359(16):1685-1699. doi:10.1056/NEJMoa0805384
  • Pinkel D, et al. 1q21.1 distal deletion/duplication syndrome. A case report with a patient having been repeatedly anesthetized including for MRI investigations. Minerva Anestesiologica [Online]. 2020;86(12):1388-1389. [Accessed 2021 May 20]. Available from: https://pubmed.ncbi.nlm.nih.gov/32469348/
  • Pinkel D, et al. 1q21.1 deletion and duplication syndrome in a patient with congenital heart disease: New phenotype expansion. Echocardiography [Online]. 2021;38(2):330-333. [Accessed 2021 May 20]. Available from: https://pubmed.ncbi.nlm.nih.gov/33320832/
  • Gilmore EC, et al. The genetic basis of human brain malformation. Annual Review of Neuroscience. 2010;33(1):1-20. doi:10.1146/annurev-neuro-060909-153254
  • 56. Checking the inheritance of a gene mutation. In: GeneReviews® [Internet]. [Accessed 2021 May 20]. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1215/
  • Additional references and resources for 1q21.1 microduplication syndrome. From the Genetic and Rare Diseases Information Center (GARD) [Internet]. [Accessed 2021 May 20]. Available from: https://rarediseases.info.nih.gov/diseases/961/1q211-microduplication-syndrome
  • ClinicalTrials.gov search results for 1q21.1 microduplication. From: ClinicalTrials.gov [Internet]. [Accessed 2021 May 20]. Available from: https://clinicaltrials.gov/ct2/results?cond=1q211+microduplication
  • 1q21.1 recurrent microdeletions. In: OMIM® [Internet]. [Accessed 2021 May 20]. Available from: https://www.omim.org/entry/612474
  • 1q21.1 recurrent microduplications. In: OMIM® [Internet]. [Accessed 2021 May 20]. Available from: https://www.omim.org/entry/612475

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