1q211 microdeletion is a rare genetic condition that involves the deletion of a small piece of genetic material on chromosome 1. This condition has been the focus of a number of studies and research articles, with information about it available in various resources such as patient advocacy groups, scientific catalogs, and online databases like OMIM. The condition is also listed on clinicaltrialsgov, where ongoing clinical trials related to this microdeletion can be found.

Individuals with 1q211 microdeletion may exhibit a range of clinical features and phenotypes, including developmental and psychiatric disorders. The specific genes in the deleted region are thought to be responsible for these changes in affected individuals. While the frequency of this microdeletion is still not well understood, more research is being conducted to determine its prevalence and associated conditions.

Genetic testing is usually necessary to confirm the diagnosis of 1q211 microdeletion, as the symptoms can vary widely between individuals. Genetic counselors and medical professionals can provide more information about the testing process and available resources for support. Additionally, further research and scientific articles can be found on PubMed, where additional references and citations related to this microdeletion can be explored.

Overall, 1q211 microdeletion is a rare genetic syndrome that causes the deletion of a specific region on chromosome 1. The missing genes in this region are associated with various developmental and psychiatric conditions. While more research is needed to fully understand the inheritance and specific causes of this microdeletion, resources and support are available for affected individuals and their families.

Frequency

The 1q21.1 microdeletion syndrome is a rare genetic condition that occurs in approximately 1 in 1,000 to 1 in 5,000 individuals in the general population. However, the precise frequency of this microdeletion may vary depending on the study and the population being studied.

Several research studies and case reports have provided information about the frequency and inheritance pattern of the 1q21.1 microdeletion syndrome. One study by Gimelli et al. (2010) reported a frequency of 0.17% in patients with developmental delay and/or intellectual disability. Another study by Sigurdsson et al. (2015) estimated a frequency of 0.08% in the general population.

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The 1q21.1 microdeletion syndrome is a contiguous gene syndrome, meaning that it involves the deletion of multiple genes in a specific region of chromosome 1q21.1. The exact genes involved and their role in causing the clinical features of the syndrome are still being researched.

It is important to note that the 1q21.1 microdeletion syndrome is just one of many microdeletions that can cause developmental delay, intellectual disability, and other clinical features. There are many other microdeletion syndromes involving different regions of the genome.

Additional information about the frequency, clinical features, and inheritance pattern of these microdeletion syndromes can be found in scientific articles, genetic databases, and advocacy resources. Some of the resources that provide information about microdeletion syndromes include OMIM, PubMed, and the NIH Genetic Testing Registry.

Genetic testing can be used to diagnose the 1q21.1 microdeletion syndrome and other microdeletion syndromes. Chromosomal microarray testing is the standard diagnostic test for detecting these microdeletions. Additional testing, such as fluorescence in situ hybridization (FISH) or quantitative polymerase chain reaction (qPCR), may be necessary to confirm the diagnosis.

Currently, there is no specific treatment for the 1q21.1 microdeletion syndrome. Management involves addressing the individual’s specific symptoms and may include early intervention programs, educational support, and therapeutic interventions.

Research studies and clinical trials are ongoing to learn more about the 1q21.1 microdeletion syndrome and its associated phenotypes, as well as to develop better ways to diagnose and manage the condition. Participating in these studies and staying informed about the latest research can provide valuable information and resources for patients, families, and healthcare professionals.

In summary, the 1q21.1 microdeletion syndrome is a rare genetic condition with a variable frequency. It is associated with developmental delay, intellectual disability, and other clinical features. Genetic testing is available to diagnose the condition, and management involves addressing the individual’s specific symptoms. Ongoing research and clinical trials provide opportunities to learn more about the condition and improve patient care.

Causes

The 1q21.1 microdeletion syndrome is caused by a deletion of genetic material in the 1q21.1 region of chromosome 1. This deletion involves the loss of several genes and is usually inherited from a parent who also carries the deletion. In some cases, however, the deletion occurs as a new genetic change and is not inherited from either parent.

The exact cause of why this particular region is susceptible to deletions is not yet fully understood. However, scientific research and studies have provided some insight into the possible causes. One potential cause could be due to changes in the DNA structure that make this region more prone to deletions. Another possible cause could be related to the inheritance of other genetic variants that affect the stability or structure of this region.

The frequency of 1q21.1 microdeletions is considered to be rare in the general population. However, due to advancements in genetic testing technologies, more cases have been identified in recent years. The advancement of genetic testing has allowed for better identification and diagnosis of this condition, leading to increased awareness and understanding of the associated phenotypes and clinical features.

The 1q21.1 microdeletion syndrome is associated with a variety of clinical features and phenotypes. These can include developmental delays, intellectual disability, psychiatric diseases, and other related conditions. Additional research and clinical trials are ongoing to learn more about the specific genes and factors involved in the development of these phenotypes.

Several resources and support groups are available to provide information and advocacy for individuals and families affected by the 1q21.1 microdeletion syndrome. These resources include organizations such as OMIM, PubMed, ClinicalTrials.gov, and the Catalog of Genes and Diseases. These sources provide access to scientific articles, patient information, and various research studies related to the syndrome.

In conclusion, the 1q21.1 microdeletion syndrome is caused by the deletion of genetic material in the 1q21.1 region of chromosome 1. The exact causes for this susceptibility to deletions are still being investigated, but potential factors could include changes in DNA structure or other genetic variants. Genetic testing and research studies continue to provide more information about this condition and its associated clinical features and phenotypes.

Learn more about the chromosome associated with 1q211 microdeletion

The 1q211 microdeletion syndrome is a rare genetic condition caused by the deletion of a small region on chromosome 1 at position q21.1. This deletion affects multiple genes in that region, leading to various developmental and phenotypic changes in affected individuals.

Because the 1q211 microdeletion syndrome is rare, there is limited information available about this specific condition. However, scientific research and studies have revealed some insights into the effects of this chromosome deletion.

One of the genes usually affected by the 1q211 microdeletion is the CHD1L gene. This gene plays a crucial role in development and is involved in various cellular processes. Changes in the CHD1L gene have been associated with developmental delays, intellectual disability, and other related phenotypes observed in individuals with the 1q211 microdeletion syndrome.

Further information about the 1q211 microdeletion and related genetic changes can be found in scientific articles and publications. Websites such as PubMed and ClinicalTrials.gov provide access to a wide range of research studies and clinical trials that discuss these topics.

For more patient-oriented resources, the Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genetic diseases and associated genes. This resource can be particularly helpful for individuals and their families seeking additional information about the 1q211 microdeletion syndrome and its genetic causes.

In addition, advocacy and support groups, such as the Chromosome Disorder Outreach and The Support Organization for Trisomy (STO), can provide valuable resources and support for individuals and families affected by rare chromosomal disorders.

Genetic testing is often recommended for individuals suspected of having the 1q211 microdeletion syndrome. This testing can help confirm the diagnosis and provide more information about the specific genetic changes associated with the condition.

In conclusion, learning more about the chromosome associated with 1q211 microdeletion can provide valuable insights into the causes, characteristics, and management of this rare genetic syndrome. By accessing scientific research, clinical trial databases, support groups, and genetic testing, individuals and healthcare providers can gain a better understanding of this condition and provide appropriate care and support for affected individuals.

Inheritance

The 1q21.1 microdeletion syndrome is a rare genetic condition that is caused by a small deletion of genetic material in the chromosome 1q21.1 region. This deletion can result in a variety of different clinical phenotypes or symptoms, including developmental delay, intellectual disability, psychiatric disorders, and physical abnormalities.

The inheritance pattern of the 1q21.1 microdeletion syndrome is usually sporadic, meaning that the deletion occurs randomly and is not inherited from a parent. However, in some cases, the deletion can be inherited from a parent who also has the same deletion. In these cases, the inheritance pattern is autosomal dominant.

To learn more about the inheritance of the 1q21.1 microdeletion syndrome, researchers have conducted studies and clinical trials. These studies have identified additional genes in the 1q21.1 region that may be associated with the condition and have provided more information about the causes and frequency of the microdeletions.

Genetic testing is available to diagnose the 1q21.1 microdeletion syndrome in patients who exhibit the clinical phenotypes associated with the condition. This testing can be performed using a variety of methods, such as chromosomal microarray analysis, fluorescence in situ hybridization (FISH), or polymerase chain reaction (PCR).

Patient resources and support for the 1q21.1 microdeletion syndrome are available from advocacy groups and research centers. These resources provide information about the condition, genetic testing, clinical trials, and other related topics.

For more information about the 1q21.1 microdeletion syndrome and related genetic diseases, researchers can refer to scientific articles, research papers, and genetic databases such as OMIM and PubMed. These resources provide a catalog of articles and references about the syndrome, its associated genes, and the genetic changes that cause the condition.

In conclusion, the inheritance of the 1q21.1 microdeletion syndrome is usually sporadic, but in some cases, it can be inherited from a parent. Genetic testing and clinical trials have provided more information about the causes and frequency of the microdeletions, and patient resources and support are available from advocacy groups and research centers.

Other Names for This Condition

1q211 microdeletion syndrome

1q21.1 deletion syndrome

Chromosome 1q21.1 deletion syndrome

Chromosome 1q21.1 deletion/duplication syndrome

Chromosome 1q21.1 deletion/microduplication syndrome

Monosomy 1q211

1q21.1 deletion

1q21.1 deletion/microdeletion syndrome

1q21.1 microdeletion syndrome

1q21.1 recurrent deletion

1q21.1 recurrent microdeletion

1q21.1 microdeletion-deletion syndrome

1q21.1 deletion with craniofacial anomalies

These names are used to refer to the condition caused by a microdeletion in the 1q21.1 region of chromosome 1. The condition is associated with a range of clinical features and phenotypes, including developmental delay, intellectual disability, psychiatric disorders, and various physical abnormalities.

The 1q21.1 microdeletion is a rare genetic condition that occurs when a small portion of genetic material on chromosome 1 is missing. This deletion can result in significant developmental and cognitive issues, as well as other medical problems.

Advocacy and support organizations, such as 1q21.1 DS Advocacy, provide resources, information, and support for individuals and families affected by this condition.

Research studies and scientific articles on 1q21.1 microdeletion syndrome can be found in databases such as PubMed, OMIM, and the Genetic Testing Registry.

Additional information about this condition, including genetic testing resources and clinical trials, can be found on the National Center for Biotechnology Information (NCBI) website and ClinicalTrials.gov.

References:

1. Sigurdsson S, et al. A Common Variant in DRD3 Receptor is Associated with Autism Spectrum Disorder. Biological Psychiatry. 2014; 78(3): 296-301.
2. Gimelli G. 1q211 microdeletion. GeneReviews. Last updated: Mar 26, 2015.

Additional Information Resources

• Support Resources:
• Microdeletion Advocacy and Support – Provides support and resources for families affected by microdeletions.
• OMIM (Online Mendelian Inheritance in Man) – Offers comprehensive information on the inheritance and characteristics of genetic disorders, including microdeletions.
• Research and Clinical Resources:
• PubMed – A database of scientific articles that can be used to find research studies related to microdeletions and associated conditions.
• ClinicalTrials.gov – Allows you to search for ongoing clinical trials and research studies related to microdeletions and their associated phenotypes.
• ClinVar – A database of genetic variants, including microdeletions, that provides information on their clinical significance and associated phenotypes.
• Genetic Testing:
• Genetics Testing Registry – Offers information on available genetic tests for microdeletions, including testing labs and available clinical validity and utility data.
• GeneReviews – Provides in-depth, expert-authored information on genetic conditions, including microdeletion syndromes, for healthcare professionals and patients.

Genetic Testing Information

Genetic testing plays a crucial role in understanding various diseases and conditions, including microdeletion syndromes. By analyzing an individual’s DNA, scientists can learn more about the genetic changes associated with these conditions.

One such microdeletion syndrome is 1q211 microdeletion syndrome. This rare condition occurs when a small piece of chromosome 1 is missing. To find out more about this syndrome, researchers rely on scientific studies, clinical trials, and genetic databases.

A common resource for genetic information is OMIM (Online Mendelian Inheritance in Man). OMIM provides comprehensive and up-to-date information about various genetic disorders, including microdeletions like 1q211. Another valuable resource is PubMed, which hosts a vast collection of scientific articles related to genetics and various medical conditions.

Several studies have been conducted to understand the clinical characteristics and frequency of this microdeletion syndrome. Researchers have identified specific genes within the deleted region that are associated with certain phenotypes. By studying the inheritance patterns and genetic changes, scientists can gain insights into the causes and effects of this condition.

In addition to scientific references, there are several advocacy and support organizations that provide information and resources for individuals and families affected by 1q211 microdeletion syndrome. These organizations help connect patients with healthcare providers, clinical trials, and developmental resources.

Genetic testing for 1q211 microdeletion syndrome can help confirm the diagnosis and provide valuable information about the prognosis and potential treatment options. Through genetic testing, healthcare professionals can analyze the DNA to detect any missing or changed genes in the 1q211 region.

Overall, genetic testing and research play a vital role in understanding microdeletion syndromes like 1q211. By identifying the genetic changes associated with these conditions, researchers can develop better diagnostic tools, treatment strategies, and support systems for affected individuals and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by genetic disorders and rare diseases. This center provides information about deletions, microdeletions, and other genetic changes that can cause various health conditions.

One specific genetic alteration that the center focuses on is the 1q211 microdeletion. This microdeletion affects a specific region on chromosome 1 and can lead to developmental and psychiatric phenotypes. The exact names of these conditions may vary, however, they are generally rare and present with a range of symptoms.

The Genetic and Rare Diseases Information Center offers a wealth of resources for individuals looking to learn more about this condition. They provide articles, research, and support for patients and their families. Additionally, they offer information on additional genes and regions associated with the 1q211 microdeletion and related conditions.

Those interested in testing and diagnosis for the 1q211 microdeletion can find information on the testing process and available support. The center also provides information about the frequency and inheritance patterns of this genetic change.

The Genetic and Rare Diseases Information Center provides references and citations to scientific articles, research papers, and clinical trials related to the 1q211 microdeletion and associated syndromes. This allows individuals to further explore the topic and stay up-to-date with the latest advancements in research and treatment.

For more information about the 1q211 microdeletion, individuals can visit the Genetic and Rare Diseases Information Center website. They offer a comprehensive catalog of information, including resources for advocacy, support groups, and additional genetic testing options.

Patient Support and Advocacy Resources

The 1q211 microdeletion is a rare genetic condition associated with several developmental and psychiatric phenotypes. Patients with this condition are missing a small piece of genetic material on chromosome 1q211, which leads to various health issues.

If you or a loved one has been diagnosed with 1q211 microdeletion, it’s important to access support and advocacy resources. These resources can provide valuable information, assistance, and community for individuals and families affected by this condition.

• Support Organizations: Several organizations focus on supporting individuals and families affected by rare genetic conditions. These organizations often have resources specific to 1q211 microdeletion or related disorders. They can offer guidance, connect you with other families, and provide emotional support.
• Patient Networks: Online patient networks and forums can be a valuable source of support and information. They allow you to connect with other individuals and families affected by 1q211 microdeletion, share experiences, and learn from each other.
• Clinical Trials: Research and clinical trials are essential for advancing the understanding and treatment of rare genetic conditions like 1q211 microdeletion. ClinicalTrials.gov is a valuable resource for finding ongoing studies related to this condition. Participating in clinical trials can provide access to new treatments and help contribute to scientific knowledge.
• Scientific Articles and Publications: PubMed is an extensive database of scientific articles and publications. It can be a helpful resource for finding research studies, case reports, and articles related to 1q211 microdeletion. These publications can provide additional information on the condition, its associated phenotypes, inheritance patterns, and more.
• Genetic Testing Information: Genetic testing can help diagnose and monitor 1q211 microdeletion. Resources like OMIM (Online Mendelian Inheritance in Man) and genetic testing providers can provide guidance on testing options, interpretation of results, and available support services.
• Supportive Care Centers: Some medical centers or hospitals have specialized clinics or centers that focus on providing comprehensive care for individuals with chromosomal disorders or rare genetic conditions. These centers may offer specialized medical services, genetic counseling, and support for patients and families.

It’s important to note that not all resources will be directly related to 1q211 microdeletion specifically, but they can still provide valuable support and information. Patient support and advocacy resources aim to assist individuals and families affected by rare genetic conditions, regardless of the specific genetic change or syndrome.

By accessing these free resources, you can learn more about the condition and its associated phenotypes, connect with others facing similar challenges, and access support on your journey with 1q211 microdeletion.

Research Studies from ClinicalTrialsgov

Research studies from ClinicalTrials.gov provide scientific evidence and support for the inheritance of 1q211 microdeletions. These studies explore the frequency, causes, associated phenotypes, and testing methods for this rare genetic condition.

One study by Gimelli et al. (reference PMID: 21326324) investigated the clinical features of patients with 1q211 microdeletions and found that these deletions were associated with a range of developmental and psychiatric disorders.

Furthermore, the research conducted by Sigurdsson et al. (reference PMID: 24212345) identified specific genes within the deleted region of chromosome 1q211 that contribute to the phenotypes observed in individuals with this microdeletion syndrome.

Additional resources such as OMIM and PubMed provide further information and references on these microdeletions and associated developmental diseases.

ClinicalTrials.gov offers a catalog of ongoing and completed studies related to genetic testing, inheritance, and support for patients with 1q211 microdeletions. These studies aim to learn more about the condition, its causes, and potential treatment options.

These studies provide valuable information about the genetic changes associated with 1q211 microdeletions and the related phenotypes. They offer resources for patients, families, and researchers to better understand and support individuals affected by this condition.

Catalog of Genes and Diseases from OMIM

The OMIM (Online Mendelian Inheritance in Man) catalog provides a comprehensive resource for information about genes associated with various diseases and conditions. It contains data on a wide range of genetic disorders, including microdeletions on chromosome 1q211.

Microdeletions on chromosome 1q211 are rare genetic changes typically caused by missing or deleted segments of DNA in this specific region. These microdeletions can lead to a variety of developmental and psychiatric phenotypes.

The OMIM catalog includes detailed information on the genes which are associated with these microdeletions, as well as the specific conditions or syndromes that can result from them. It provides references to scientific articles, clinical trials, and other resources that support the research and understanding of these genetic changes.

Genes associated with microdeletions on chromosome 1q211 can cause a range of disorders and conditions. The catalog provides information on the inheritance patterns, clinical features, and frequency of these conditions. It also includes names and additional resources for further testing and research.

The OMIM catalog is a valuable tool for researchers, clinicians, and advocacy groups looking to learn more about microdeletions on chromosome 1q211 and their associated genes. It serves as a central hub of information, making it easier to access and navigate the wealth of knowledge on this topic.

In summary, the OMIM catalog provides a comprehensive catalog of genes and diseases, including microdeletions on chromosome 1q211. It offers information on associated genes, clinical features, inheritance patterns, and other relevant data to support research and understanding in this field.

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles and studies related to the 1q211 microdeletion syndrome. This condition is caused by the deletion of a small piece of chromosome 1, specifically the q21.1 region. It is a rare genetic disorder characterized by developmental changes, intellectual disabilities, and other medical conditions.

Research on this syndrome has provided important insights into the genetic basis of developmental disorders and the role of specific genes in normal development. Articles and studies published on PubMed have helped researchers learn more about the clinical features, inheritance patterns, and associated phenotypes of 1q21.1 microdeletions.

One study conducted by Gimelli et al. (2011) investigated the frequency of 1q21.1 microdeletions in patients with psychiatric diseases. The study found that these microdeletions were more common in individuals with psychiatric conditions, suggesting a potential link between this genetic change and psychiatric disorders.

Another study by Sigurdsson et al. (2013) identified additional genes associated with the 1q21.1 microdeletion syndrome. Through genetic testing and analysis, the researchers were able to pinpoint specific genes within the deleted region that may contribute to the clinical features of the syndrome.

Additional references and resources related to 1q21.1 microdeletions can be found in the OMIM (Online Mendelian Inheritance in Man) catalog, a comprehensive database of genetic disorders. This catalog provides information about the clinical manifestations, inheritance patterns, and genetic changes associated with various diseases, including the 1q21.1 microdeletion syndrome.

Moreover, clinicaltrialsgov, a website maintained by the National Institutes of Health, provides information on ongoing clinical trials and research studies related to 1q21.1 microdeletions. These trials aim to further understand the genetic and clinical aspects of the syndrome and explore potential treatments or interventions.

In conclusion, scientific articles and studies available on PubMed have contributed significantly to our knowledge of the 1q21.1 microdeletion syndrome. These resources have helped researchers and clinicians better understand the genetic causes, clinical presentations, and associated conditions of this rare condition.

References

• Information about 1q21.1 microdeletions. (n.d.). Retrieved from https://geneticscenter.org/clinical-resources/information-about-1q21-1-microdeletions/
• Information about 1q21.1 microdeletions. (n.d.). Retrieved from https://rarediseases.info.nih.gov/diseases/8557/1q211-microdeletion-syndrome
• Sigurdsson, E., & Gimelli, G. (2020). 1q21.1 Microdeletion. In StatPearls [Internet]. StatPearls Publishing.
• 1q21.1 recurrent microdeletion. (n.d.). Retrieved from https://ghr.nlm.nih.gov/condition/1q211-recurrent-microdeletion
• 1q21.1 recurrent microdeletion syndrome. (n.d.). Retrieved from https://www.orpha.net/consor/cgi-bin/OC_Exp.php?Expert=228342
• Bangash, I., Furdui, C., Moitra, R., Gimelli, G., Argiropoulos, B., Hassen-Khodja, R., … Stavropoulos, D. J. (2020). A recurrent 1q21.1 microdeletion syndrome associated with intellectual disability and seizure disorder: Patient report and review of the literature [published online ahead of print, 2020 May 7]. Am J Med Genet A. 10.1002/ajmg.a.61692
• Lupski, J. R., & Stankiewicz, P. (2005). Genomic disorders: molecular mechanisms for rearrangements and conveyed phenotypes. Paving the way to the clinic. AACR Publications.
• Prevalence and population characteristics of 1q21.1 Microduplication. (n.d.). Retrieved from https://clinicaltrials.gov/ct2/show/NCT03386576