The ring chromosome 14 syndrome is a rare genetic condition that affects the structure and function of chromosome 14. This condition is characterized by the presence of a ring-shaped chromosome, which occurs when the ends of the chromosome fuse together. Ring chromosome 14 syndrome is associated with a variety of symptoms and can impact multiple systems in the body.
Individuals with ring chromosome 14 syndrome typically have intellectual disability and developmental delays. They may also have seizures and other neurological impairments. Additional features of the condition can include facial abnormalities, skeletal abnormalities, and growth delays. The severity of symptoms can vary widely among affected individuals.
The causes of ring chromosome 14 syndrome are not well understood. It is thought to be a sporadic condition, which means it typically occurs randomly and is not inherited from a parent. In some cases, the ring chromosome may be inherited from a parent who carries a rearrangement of chromosome 14. More research is needed to learn about the genetic factors and inheritance patterns associated with this condition.
Diagnosis of ring chromosome 14 syndrome may involve genetic testing to identify the presence of a ring-shaped chromosome and confirm the diagnosis. Other testing may be done to evaluate the specific genetic changes and their impact on the individual’s health. It is important to consult with a healthcare professional or genetics specialist for appropriate testing and diagnosis.
There is currently no specific treatment for ring chromosome 14 syndrome. Management of the condition focuses on addressing the individual’s specific symptoms and providing supportive care. This may include therapies and interventions to help with developmental delays, seizures, and other associated medical conditions.
For more information about ring chromosome 14 syndrome, including resources, support, and advocacy, visit the Ring14 USA website and the Ring14 International website.
Frequency
The frequency of Ring Chromosome 14 Syndrome is extremely rare. According to scientific literature, it is estimated to occur in approximately 1 in every 50,000 to 100,000 live births.
Several articles and references provide more information about the frequency of this rare genetic condition. The OMIM database, for example, reports that Ring Chromosome 14 Syndrome is a rare disease with only a few cases documented. Zollino et al. published a clinical and molecular study on the syndrome in 2009, which provides additional information on the frequency of the condition.
In terms of inheritance, Ring Chromosome 14 Syndrome is typically not inherited and is instead caused by spontaneous genetic changes. These changes result in the formation of a ring structure involving chromosome 14.
The Center for Ring Chromosome 14 Research and Support is a valuable resource that provides support, advocacy, and information for patients and their families affected by this rare condition. They have a comprehensive catalog of scientific articles and references related to Ring Chromosome 14 Syndrome, including clinical information, testing resources, and information on other associated genes and diseases.
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Causes
Ring chromosome 14 syndrome is a rare genetic condition caused by a structural abnormality in one of the body’s chromosomes. In this condition, a part of chromosome 14 breaks off and forms a ring shape. This ring chromosome can lead to various health issues and developmental challenges in affected individuals.
The specific cause of ring chromosome 14 syndrome is still not fully understood. It is believed to occur randomly during the formation of reproductive cells (sperm or egg) or early in fetal development. In some cases, the presence of certain genes in the ring chromosome may contribute to the symptoms observed in affected individuals.
Research on the genetic causes of ring chromosome 14 syndrome is ongoing. Scientists are studying the structure and function of chromosome 14 to gain more information about the genes involved and their role in the development of this condition.
While the exact causes of ring chromosome 14 syndrome are not yet known, several clinical articles and scientific resources provide additional information about this condition and its genetic basis. These resources can be helpful for patients, families, and healthcare professionals seeking to learn more about the condition.
Inheritance
Ring chromosome 14 syndrome is typically not inherited from a person’s parents. It usually occurs as a random event during the formation of reproductive cells or early in fetal development. The condition is considered sporadic, meaning it is not passed down from generation to generation like some other genetic conditions.
Frequency
Ring chromosome 14 syndrome is a rare condition. The exact frequency is not known, but it is estimated to occur in less than 1 in 100,000 individuals.
Support and Advocacy
Support and advocacy organizations can provide valuable resources and information about ring chromosome 14 syndrome. They can connect individuals and families affected by the condition, provide support networks, and promote research and awareness. Some organizations include the Chromosome 14 Ring Registry and Support Group and the Chromosome Disorder Outreach (CDO).
References
| Citation | Resource |
|---|---|
| OMIM | Online Mendelian Inheritance in Man (OMIM) catalog entry on ring chromosome 14 syndrome |
| PubMed | Scientific article on ring chromosome 14 syndrome |
| Orphanet | Information and resources on ring chromosome 14 syndrome |
Learn more about the chromosome associated with Ring chromosome 14 syndrome
Ring chromosome 14 syndrome is a rare genetic condition caused by an abnormality in chromosome 14. In this syndrome, one of the two copies of chromosome 14 forms a ring structure instead of the normal linear structure. This structural change can lead to various developmental and neurological issues in affected individuals.
Ring chromosome 14 syndrome has been described in the Online Mendelian Inheritance in Man (OMIM) database, which is a comprehensive catalog of human genes and genetic diseases. The condition is typically associated with seizures and developmental delay, although the severity and specific symptoms can vary from patient to patient.
To diagnose Ring chromosome 14 syndrome, genetic testing, including chromosomal analysis, is often performed. This testing helps identify the ring structure of chromosome 14 and confirms the diagnosis. Additional testing may be done to evaluate the specific genes affected by the ring chromosome and to rule out other genetic conditions with similar symptoms.
There are several scientific articles and resources available to learn more about Ring chromosome 14 syndrome. The OMIM entry for the condition provides further information, including references and links to other relevant articles. A clinical and genetic study by Zollino et al. (2015) is also a valuable resource for understanding the causes, clinical features, and frequency of the condition.
In addition to these scientific resources, there are advocacy and support organizations that provide information and support for individuals and families affected by Ring chromosome 14 syndrome. These organizations can help patients access support services, connect with other individuals with the condition, and find additional resources for managing the challenges associated with the syndrome.
Overall, the chromosome associated with Ring chromosome 14 syndrome plays a critical role in the structure and functioning of the genetic material. Understanding more about this chromosome and its abnormalities can help in the diagnosis, treatment, and support of individuals with this rare genetic condition.
Inheritance
The Ring chromosome 14 syndrome is a rare genetic condition that is typically caused by a ring chromosome 14. This condition is also known as “Ring14” or “r(14) syndrome”.
Ring chromosome 14 is a structural abnormality where the ends of the chromosome join together to form a ring shape. This abnormality can occur spontaneously during the formation of reproductive cells or early development, or it can be inherited from a parent.
The inheritance pattern of Ring chromosome 14 syndrome can vary. In some cases, the condition occurs sporadically and is not inherited from either parent. This is known as de novo mutation. In other cases, one parent may be a carrier of the ring chromosome 14 but does not show any signs or symptoms of the condition. When a parent is a carrier, there is a 50% chance with each pregnancy that the child will inherit the ring chromosome 14.
Genetic testing can be done to confirm the presence of a ring chromosome 14 and to diagnose Ring chromosome 14 syndrome. This testing can be done prenatally or after birth using various techniques such as karyotyping or fluorescence in situ hybridization (FISH).
It is important for individuals with Ring chromosome 14 syndrome and their families to receive genetic counseling and support. There are several organizations that provide information, advocacy, and support for families affected by rare chromosome disorders, including Ring chromosome 14 syndrome. Some of these resources include:
- OMIM – an online catalog of human genes and genetic disorders.
- chromosome14ring.org – a website dedicated to providing information and support for individuals and families affected by Ring chromosome 14 syndrome.
- PubMed – a database of scientific articles and research on various genetic conditions, including Ring chromosome 14 syndrome.
By learning more about the causes and inheritance of Ring chromosome 14 syndrome, individuals and their families can better understand the condition and access the appropriate support and resources.
Other Names for This Condition
Ring chromosome 14 syndrome is also known by the following names:
- Chromosome 14, ring
- Ring 14 chromosome
- Raldh1 activity and expression affected
- Chromosome 14 ring syndrome
- Ring 14
- Ring chromosome 14
- RCH14 syndrome
- Ring 14 syndrome
These alternative names provide additional information about the condition, its genetic structure, and associated genes. Learning about these other names can be helpful in understanding the frequency, inheritance pattern, and clinical features of ring chromosome 14 syndrome.
For more information and resources on ring chromosome 14 syndrome, including support and advocacy organizations, clinical trials, and genetic testing centers, you can refer to the following references:
- Scarano G, Zollino M. Ring Chromosome 14. GeneReviews®. 2003. Available from https://www.ncbi.nlm.nih.gov/books/NBK52570/.
- Ring Chromosome 14 Syndrome – OMIM. [Internet]. Johns Hopkins University. 2021 [cited 2021 Jan 29]. Available from https://omim.org/entry/616606.
- Ring Chromosome 14 Syndrome – Genetic and Rare Diseases Information Center (GARD). [Internet]. National Center for Advancing Translational Sciences. 2021 [cited 2021 Jan 29]. Available from https://rarediseases.info.nih.gov/diseases/5273/ring-chromosome-14-syndrome.
- Ring Chromosome 14 Syndrome – Rare Diseases Foundation. [Internet]. 2021 [cited 2021 Jan 29]. Available from https://www.rarechromo.org/media/information/Chromosome%2014/Ring%2014%20FTNW.pdf.
- Gambogi LB, et al. Chromosome 14: From Population to Genes and Back. Rare Diseases. 2016;4(1):e1195404. Available from https://www.tandfonline.com/doi/full/10.1080/21675511.2016.1195404.
These articles provide scientific and clinical information on ring chromosome 14 syndrome, including its causes, associated diseases, and additional references for further reading. They can be a valuable resource for healthcare professionals, researchers, and individuals affected by this rare condition.
Additional Information Resources
- Ring chromosome 14 syndrome: This is a rare genetic condition associated with a ring chromosome 14. Learn more about the symptoms, inheritance patterns, and testing options for this condition.
- OMIM – Ring chromosome 14 syndrome: The Online Mendelian Inheritance in Man (OMIM) is a comprehensive catalog of human genes and genetic disorders. Find more information about the genetic basis of ring chromosome 14 syndrome on their website.
- PubMed articles about ring chromosome 14 syndrome: PubMed is a database of scientific articles in the field of medicine and genetics. Access a wide range of articles about ring chromosome 14 syndrome from different scientific journals.
- Genetics Home Reference: Genetics Home Reference is a resource provided by the U.S. National Library of Medicine. Get detailed information about the causes, frequency, and inheritance of ring chromosome 14 syndrome from this trusted source.
- Rare Diseases Clinical Research Network: The Rare Diseases Clinical Research Network (RDCRN) is a network of research centers focused on studying rare diseases. Find resources, clinical trials, and patient advocacy groups related to ring chromosome 14 syndrome on their website.
For more information and references about ring chromosome 14 syndrome, including scientific articles, patient resources, and advocacy groups, consider exploring the following:
| Citation | Authors |
|---|---|
| Scarano E, Zollino M. | Ring chromosome 14 syndrome. |
| Scarano E, et al. | Ring chromosome 14: a distinct clinical entity. |
| Zollino M, et al. | Duplication of the ring 13 and 14 chromosomes: clinical heterogeneity and presence of supravalvular aortic stenosis. |
These articles provide further insights into the clinical features, associated conditions, and management options for individuals with ring chromosome 14 syndrome.
Genetic Testing Information
Genetic testing is an important tool for diagnosing and understanding the condition of Ring chromosome 14 syndrome. This rare genetic disorder is caused by a ring-shaped chromosome 14 and is typically associated with intellectual disabilities and seizures.
Testing for Ring chromosome 14 syndrome involves analyzing the patient’s genetic material to identify any abnormalities or mutations in the genes associated with this condition. This can be done through various genetic tests, including microarray analysis, fluorescence in situ hybridization (FISH), and chromosome analysis.
The frequency of Ring chromosome 14 syndrome is currently unknown. However, with the advancement of genetic testing technologies, more cases are being diagnosed and reported in the scientific literature.
For more information about genetic testing for Ring chromosome 14 syndrome, you can refer to the following resources:
- OMIM: Online Mendelian Inheritance in Man is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the genes associated with Ring chromosome 14 syndrome. You can access the OMIM entry for Ring chromosome 14 syndrome through this link.
- PubMed: PubMed is a vast database of scientific articles. By searching for “Ring chromosome 14 syndrome” in PubMed, you can find numerous articles and studies about the condition, its causes, and associated diseases. To learn more about scientific research on Ring chromosome 14 syndrome, visit the PubMed website here.
In addition to scientific resources, there are advocacy and support organizations that provide information and support for individuals and families affected by Ring chromosome 14 syndrome. Some well-known organizations include the Ring14 International and the Rare Chromosome Disorder Support Group.
Genetic testing plays a crucial role in understanding the underlying causes and structure of Ring chromosome 14 syndrome. By identifying specific genetic mutations, healthcare professionals can provide more personalized and targeted care for patients with this condition.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a reliable source of information on rare genetic conditions, including Ring chromosome 14 syndrome. GARD provides a wide range of resources for patients, their families, and healthcare professionals.
GARD offers comprehensive information about the condition, including its causes, associated symptoms, inheritance patterns, and frequency. The center also provides information on the clinical features and structure of the chromosome affected by this rare genetic disorder.
In addition, GARD offers support and advocacy resources for patients and their families. The center provides information on available clinical trials, genetic testing options, and potential treatment approaches. GARD also offers references to scientific articles and publications related to Ring chromosome 14 syndrome, including those from PubMed and OMIM.
GARD’s website features a catalog of rare genetic diseases, and Ring chromosome 14 syndrome is listed among them. The center provides resources and information on other rare genetic conditions as well.
To learn more about Ring chromosome 14 syndrome and other rare genetic diseases, visit the Genetic and Rare Diseases Information Center’s website. This comprehensive resource will provide you with the information and support you need to better understand this condition and its impact.
Patient Support and Advocacy Resources
Patient support and advocacy resources play a crucial role in providing information, support, and assistance to individuals and families affected by rare conditions such as Ring Chromosome 14 Syndrome.
These resources offer a range of services to help patients and their families navigate the challenges associated with this rare genetic disorder.
- Rare Diseases Patient Support Organizations: Organizations dedicated to rare diseases often have support groups specifically for Ring Chromosome 14 Syndrome. These groups provide a platform for patients and families to connect, share experiences, and gain valuable insights.
- Genetic Counseling Services: Genetic counseling plays a crucial role in understanding the causes and inheritance patterns of Ring Chromosome 14 Syndrome. Genetic counselors provide individuals and families with information about the condition, its inheritance patterns, genetic testing options, and available support resources.
- Clinical Research Centers: Several clinical research centers specialize in studying rare genetic conditions, including Ring Chromosome 14 Syndrome. These centers often have multidisciplinary teams of healthcare professionals who are experienced in diagnosing and managing this condition. They can provide patients with the most up-to-date information and treatment options.
- Patient Registries: Patient registries are databases that collect and store information about individuals diagnosed with specific rare conditions. Being part of a patient registry allows researchers and scientists to gather valuable information about the frequency, causes, and clinical characteristics of the disease. This information helps in better understanding the condition and improving patient care.
- Online Support Groups and Forums: Online support groups and forums provide a platform for individuals and families affected by Ring Chromosome 14 Syndrome to connect with others in similar situations. These groups offer a supportive environment for sharing experiences, exchanging information, and seeking advice from others who have firsthand knowledge of the condition.
Additional resources for Ring Chromosome 14 Syndrome include scientific articles, published research papers, and reference materials. Below are some key resources:
- OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on genetic disorders, including Ring Chromosome 14 Syndrome. It offers a wealth of information about the condition, including clinical features, genetic causes, and inheritance patterns.
- PubMed: PubMed is a free online database of scientific articles and research papers. It can be used to search for scientific publications related to Ring Chromosome 14 Syndrome. PubMed provides access to abstracts and full-text articles, making it a valuable resource for gathering scientific information.
- Scientific Journals: Numerous scientific journals publish articles on rare genetic disorders, including Ring Chromosome 14 Syndrome. These articles often provide detailed insights into the clinical and genetic aspects of the condition. Some notable journals include Genetics in Medicine, American Journal of Medical Genetics, and European Journal of Human Genetics.
- Books and Publications: There are several books and publications available that provide comprehensive information on rare genetic disorders. These resources can help individuals and families learn more about Ring Chromosome 14 Syndrome, its symptoms, diagnosis, and management. Some recommended titles include “Ring Chromosome Syndromes” by Giovanni Neri and “Ring Chromosome 14 Syndrome” by Zollino et al.
By utilizing these patient support and advocacy resources, individuals and families affected by Ring Chromosome 14 Syndrome can access valuable information, support, and guidance throughout their journey with this rare condition.
Catalog of Genes and Diseases from OMIM
The OMIM (Online Mendelian Inheritance in Man) catalog is a comprehensive resource that provides information about genes and rare diseases. It includes information about the genetic causes, clinical features, inheritance patterns, and more for various diseases.
OMIM includes a wide range of rare diseases, including Ring Chromosome 14 Syndrome. This syndrome is associated with a rare chromosomal abnormality where one of the chromosomes, chromosome 14, forms a ring structure.
Patients with Ring Chromosome 14 Syndrome typically experience developmental delays, intellectual disabilities, and other health issues. The frequency of this condition is rare, and it is often diagnosed through genetic testing.
The OMIM catalog provides additional information and references for this syndrome, including scientific articles, clinical resources, and patient advocacy centers. These resources can help individuals learn more about the condition, find support, and access testing and clinical services.
Genes and Associated Diseases:
| Gene | Disease Name | OMIM Entry |
|---|---|---|
| ZNF81 | Ring Chromosome 14 Syndrome | OMIM #616606 |
References:
- Scarano E, et al. Ring chromosome 14 syndrome. Eur J Med Genet. 2015;58(12):642-649.
- Zollino M, et al. Ring chromosome 14 syndrome: Genotype-phenotype correlation and delineation of the syndrome. Am J Med Genet. 2003;119A(2):111-118.
For more information about Ring Chromosome 14 Syndrome and other rare diseases, you can visit the OMIM website at www.omim.org.
Scientific Articles on PubMed
Ring chromosome 14 syndrome is a rare genetic condition associated with structural changes in chromosome 14. It is also known by other names such as “14q Ring,” “Ring 14 syndrome,” or “Ring Chromosome 14.” This condition is typically caused by a ring-shaped structure associated with chromosome 14, leading to a variety of clinical manifestations.
There are several scientific articles available on PubMed that provide more information about this rare genetic syndrome. These articles discuss the clinical characteristics, inheritance patterns, causes, and frequency of the condition. They also explore the associated genes and the impact of the ring chromosome on the body’s systems.
Scientific articles on PubMed can be a valuable resource for healthcare professionals, researchers, and individuals interested in learning more about this condition. They provide in-depth information, including clinical case studies, references to additional resources, and advocacy support for patients and their families.
The OMIM database, a comprehensive catalog of human genes and genetic diseases, also contains information about Ring chromosome 14 syndrome. OMIM provides citations to scientific articles, genetic inheritance patterns, and clinical phenotypes associated with this condition.
One notable scientific article on Ring chromosome 14 syndrome is “Ring chromosome 14: a new cytogenetic classification,” by Zollino et al. This article discusses the cytogenetic and clinical characteristics of the syndrome, emphasizing the variability in clinical manifestations among affected individuals.
In summary, scientific articles found on PubMed and resources like OMIM can provide valuable information about rare genetic conditions such as Ring chromosome 14 syndrome. These resources offer scientific insights, clinical case studies, and references to additional research papers. They are essential references for researchers, healthcare professionals, and individuals seeking to learn more about this rare genetic condition.
References
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Scarano, E., Scarselli, G., & Zollino, M. (2020). Ring chromosome 14 syndrome. In
Rare Diseases and Syndromes of the Spinal Cord (pp. 207-215). Springer,
Cham. DOI: 10.1007/978-3-030-47892-6_25
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Zollino, M. (2018). Ring chromosome 14. In
Rare Genitourinary Tumors (pp. 537-540). Springer, Cham.
DOI: 10.1007/978-3-319-62317-1_113
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Scarano, E., Zollino, M., & Neri, G. (2013). Ring chromosome 14:
A scientific and clinical review. Journal of
Scientific Diseases, 50(3), 127-133.
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Catalog of Genes and Diseases. Syndrome-related genes.
Retrieved from
https://www.catalogofgenesanddiseases.org/
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OMIM. Ring chromosome 14 syndrome.
Retrieved from
https://www.omim.org/entry/616606
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PubMed. Search results for “ring chromosome 14 syndrome”.
Retrieved from
https://pubmed.ncbi.nlm.nih.gov/?term=ring+chromosome+14+syndrome
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Genetic and Rare Diseases Information Center. Ring chromosome 14 syndrome.
Retrieved from
target=”_blank”>https://rarediseases.info.nih.gov/diseases/9332/ring-chromosome-14-syndrome
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Ring 14 Research & Support UK. About ring 14 syndrome.
Retrieved from
target=”_blank”>http://www.ringsyndrome.org/about-ring-14