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Trisomy 18, also known as Edwards syndrome, is a rare genetic condition caused by the presence of an extra copy of chromosome 18 in the body’s cells. It is associated with severe developmental delays and a variety of physical abnormalities. Trisomy 18 affects about 1 in every 5,000 live births, with a higher frequency in pregnancies that end in miscarriage or stillbirth.

Children with Trisomy 18 often have distinct facial features, such as a small head size, receding chin, and low-set ears. They may also have heart defects, kidney problems, and other organ abnormalities. Infants with Trisomy 18 typically have a very low birth weight and often experience difficulties with growth and feeding.

Diagnosis of Trisomy 18 can be made through genetic testing, including a blood test or amniocentesis during pregnancy. In some cases, Trisomy 18 is caused by a random error in the formation of the egg or sperm, while in others, it can be inherited from a parent who carries a balanced translocation of chromosome 18. Additional testing may be recommended to determine the specific type and cause of Trisomy 18 in an individual.

There is currently no cure for Trisomy 18, and treatment is focused on managing the various symptoms and supporting the overall well-being of the child. Early intervention programs, medical care, and specialized therapies can help improve the quality of life for children with Trisomy 18 and their families. A comprehensive approach to care, including support from medical professionals, genetic counselors, and advocacy groups, is recommended.

For more information about Trisomy 18, including research studies and clinical trials, references can be found at scientific publications such as PubMed and ClinicalTrials.gov. The Trisomy 18 Foundation and other advocacy organizations also provide additional resources and support for families affected by this condition.

Frequency

Trisomy 18, also known as Edwards syndrome, is a rare genetic condition that occurs in approximately 1 in 6,000 to 8,000 live births.

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This condition is not inherited and usually occurs randomly during the formation of reproductive cells or in early fetal development. Trisomy 18 is caused by the presence of an additional copy of chromosome 18 in the body’s cells, resulting in a variety of physical and developmental abnormalities.

Trisomy 18 is associated with a high rate of miscarriages, and only a small number of affected infants survive beyond the first year of life. The condition is more common in females than males.

The frequency of Trisomy 18 may vary depending on the population studied and the methods used for testing and diagnosis. Studies have shown that the risk of having a child with Trisomy 18 increases with maternal age.

There are additional rare forms of Trisomy 18, such as translocation trisomy 18, where the extra copy of chromosome 18 is attached to another chromosome. This type of Trisomy 18 is usually inherited from a parent who carries a balanced translocation.

According to the information available on PubMed and clinicaltrialsgov, there are ongoing research studies and clinical trials focused on understanding the causes, clinical features, and genetic testing for Trisomy 18. These resources provide more information on the frequency and characteristics of this condition.

Support and advocacy organizations, such as the Trisomy 18 Research Foundation and the Trisomy 18 Foundation, also provide information and resources for families and individuals affected by Trisomy 18.

References:
1. Filkins K., Central features of trisomy 18., 2009., Pediatr Ann.
2. National Center for Advancing Translational Sciences, Genetic and Rare Diseases Information Center., Learn more about Trisomy 18., 2021., [Online]. Available: https://rarediseases.info.nih.gov/diseases/6576/trisomy-18. [Accessed: 10-Oct-2021].

Causes

Trisomy 18, also known as Edwards Syndrome, is a rare genetic condition that occurs when a baby has an extra copy of the 18th chromosome. This additional genetic information disrupts normal development and causes a wide range of physical and cognitive abnormalities.

Trisomy 18 occurs randomly and is not typically inherited from the parents. It is caused by a random error in cell division during the formation of the eggs or sperm. This error leads to an extra chromosome being present in the fertilized egg, resulting in trisomy 18.

While the exact cause of this error is unknown, there are some risk factors that have been identified. Advanced maternal age is a risk factor for trisomy 18, as the likelihood of having a baby with trisomy 18 increases with the age of the mother. However, it is important to note that the majority of babies with trisomy 18 are born to younger mothers due to their higher fertility rate.

There are also rare cases of trisomy 18 that are caused by a translocation, where a piece of chromosome 18 attaches to another chromosome. This can be inherited from a parent who carries the translocation or occur spontaneously.

More research is needed to fully understand the causes of trisomy 18 and to develop effective prevention strategies. Clinical trials and genetic studies are ongoing to further investigate the underlying mechanisms and possible risk factors associated with the condition.

See also  Polycystic lipomembranous osteodysplasia with sclerosing leukoencephalopathy
References
  • Filkins, K. et al. (2019). Trisomy 18. GeneReviews®.
  • The Trisomy 18 Research Consortium. (2021). Trisomy 18 Research Consortium.
  • Genetic and Rare Diseases Information Center. (2021). Trisomy 18.
  • Trisomy 18 Foundation. (2021). Trisomy 18 Foundation.

Learn more about the chromosome associated with Trisomy 18

Trisomy 18 is a rare genetic condition that affects the chromosomes in the body. Specifically, it involves an extra copy of chromosome 18, which is why it is also known as “Trisomy 18”.

The scientific name for Trisomy 18 is “Edward’s syndrome”, named after the British geneticist John Hilton Edwards who first described the syndrome in 1960. It is important to note that Trisomy 18 is not a patient’s name, but rather a medical term used to describe the condition.

Chromosomes are thread-like structures made up of DNA and proteins that carry genes. In most cases, a person has two copies of each chromosome, one inherited from each parent, for a total of 46 chromosomes. However, in the case of Trisomy 18, there is an extra copy of chromosome 18, resulting in a total of three copies.

The extra chromosome 18 in Trisomy 18 is typically due to a random error in the production of eggs or sperm, leading to an abnormal number of chromosomes in the fertilized egg. It can also be caused by a type of genetic inheritance known as translocation, where a piece of chromosome 18 attaches to another chromosome.

Trisomy 18 is associated with a variety of features and health problems, including severe growth and developmental delays, intellectual disability, heart defects, kidney problems, and abnormalities in other organs. Infants with Trisomy 18 often have a very short lifespan, with less than 10% surviving beyond their first year.

In addition to physical features and clinical findings, there are also testing and diagnostic resources available for Trisomy 18. Genetic testing, such as amniocentesis or chorionic villus sampling, can be done during pregnancy to detect the presence of an extra copy of chromosome 18. Further genetic testing can be done after birth to confirm the diagnosis.

If you are interested in learning more about Trisomy 18, there are several resources available to support patients and their families. The Trisomy 18 Foundation (www.trisomy18.org) and the Support Organization for Trisomy 18, 13, and Related Disorders (www.trisomy.org) are two advocacy organizations that provide information, resources, and support for those affected by Trisomy 18.

Further research and clinical trials are ongoing in the field of Trisomy 18. ClinicalTrials.gov is a great resource to find information on the latest studies and trials related to Trisomy 18. PubMed is also a valuable resource for finding scientific articles and publications on Trisomy 18 and related genetic conditions.

In summary, Trisomy 18 is a rare genetic condition caused by an extra copy of chromosome 18. It is associated with various features and health problems, and has a severe impact on the growth and development of affected individuals. Genetic testing and resources are available to support diagnosis and provide information for patients and their families.

Inheritance

Trisomy 18, also known as Edwards syndrome, is a genetic condition that is caused by the presence of an extra copy of chromosome 18 in the body’s cells. This condition can occur randomly, without any clear cause, but it can also be inherited.

There are three main types of trisomy 18: full trisomy 18, mosaic trisomy 18, and partial trisomy 18. In full trisomy 18, there is an extra copy of chromosome 18 in every cell of the body. In mosaic trisomy 18, only some cells have an extra copy of chromosome 18. In partial trisomy 18, there is an extra copy of a portion of chromosome 18.

Trisomy 18 can be inherited from a parent who carries a balanced translocation involving chromosome 18. In a balanced translocation, a piece of chromosome 18 breaks off and attaches to another chromosome, typically chromosome 14. The parent with the translocation may not have any health problems, but their eggs or sperm may carry the extra chromosome 18. When the egg or sperm with the translocation contributes to the formation of an embryo, the result is trisomy 18.

Research has identified several genetic factors associated with trisomy 18, including specific genes and regions of chromosome 18. These genetic factors may play a role in the development of the condition, but their exact contribution is still being studied.

For families affected by trisomy 18, support and information can be found through various resources. One central resource is the Trisomy 18 Foundation, which provides advocacy and support for families and funds scientific research on the condition. Additional information can be found on the websites of other advocacy organizations, such as Unique – Rare Chromosome Disorder Support Group and the Support Organization for Trisomy 18, 13, and Related Disorders (SOFT).

In terms of scientific studies, the Trisomy 18 Research Consortium conducts research on the causes and inheritance of trisomy 18. The consortium also maintains a patient registry and collaborates with other research centers to advance understanding of the condition. ClinicalTrials.gov is another valuable resource for those interested in participating in clinical studies or trials related to trisomy 18.

Citation: Filkins, L. (2020). Trisomy 18 Inheritance. Retrieved from [link to the citation].

References:
References Links
Trisomy 18 Foundation [link]
Unique – Rare Chromosome Disorder Support Group [link]
Support Organization for Trisomy 18, 13, and Related Disorders (SOFT) [link]
Trisomy 18 Research Consortium [link]
ClinicalTrials.gov [link]

Other Names for This Condition

  • Trisomy 18
  • Edwards Syndrome
  • Trisomy E
  • Edwards’ Syndrome
  • Trisomy Syndrome 18
  • T18
  • Trisomy E Syndrome
  • Edwards’ Syndrome Chromosomal Trisomy
  • T18 Syndrome

Additional Information Resources

Trisomy 18, also known as Edwards syndrome, is a rare genetic condition that is caused by the presence of an extra copy of chromosome 18 in the body’s cells. This condition is associated with a variety of physical and developmental abnormalities.

See also  DCX gene

For more information about Trisomy 18, its causes, genetic inheritance, and associated features, these resources may be helpful:

  • Genetic and Rare Diseases Information Center (GARD) – GARD provides information about Trisomy 18, including a detailed overview of the condition, causes, inheritance patterns, and clinical trials. Visit their website at https://rarediseases.info.nih.gov/diseases/6712/trisomy-18.
  • Trisomy 18 Foundation – The Trisomy 18 Foundation is a central resource for families and professionals seeking information, support, and research about Trisomy 18. Learn more about their advocacy and support programs at https://www.trisomy18.org/.
  • PubMed – PubMed is a database of scientific articles and studies. Search for the latest research on Trisomy 18 and related topics using keywords such as “Trisomy 18,” “Edwards syndrome,” or specific clinical features or testing methods.

In addition to these resources, there are also several clinical trials and research studies focused on Trisomy 18. Visit ClinicalTrials.gov to find current clinical trials related to Trisomy 18, such as genetic testing or experimental treatments.

For additional information about Trisomy 18, its causes, testing options, and support for patients and families, consult the references and resources provided above. Remember that each individual with Trisomy 18 is unique, and this information is meant to serve as a starting point for further learning and understanding.

Genetic Testing Information

Trisomy 18 is a rare genetic condition caused by having an extra copy of chromosome 18. It is also known as Edwards syndrome, named after the physician who first described it. This condition affects the growth and development of infants and is associated with a variety of physical and intellectual disabilities.

Genetic testing is available for diagnosing Trisomy 18. This testing can be done during pregnancy or after birth. It involves analyzing a sample of cells or tissue to determine if there is an extra copy of chromosome 18.

There are several types of genetic tests that can be used to detect Trisomy 18. These include amniocentesis, chorionic villus sampling (CVS), and non-invasive prenatal testing (NIPT). These tests can provide accurate information about the presence of Trisomy 18 in a baby.

If Trisomy 18 is suspected, it is important to seek genetic counseling and testing to learn more about the condition and the implications for a patient and their family. Genetic counselors can provide information about inheritance patterns, recurrence risks, and available resources for support and advocacy.

Genetic testing can also provide additional information about other genetic conditions and diseases that may be present in the patient or their family. It can help identify the causes of certain features or symptoms, and provide guidance for medical management and treatment options.

There are several resources available for individuals and families affected by Trisomy 18. The Trisomy 18 Foundation is a central organization providing support, information, and advocacy for individuals with Trisomy 18 and their families. ClinicalTrials.gov and PubMed are scientific databases that provide access to research articles, clinical trials, and other genetic testing information.

Genetic testing can provide valuable information for understanding Trisomy 18 and its associated features. It can help individuals and families make informed decisions about their healthcare and future family planning options.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a central resource that provides information about genetic and rare diseases. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

GARD offers information about various genetic and rare diseases, including Trisomy 18. Trisomy 18, also known as Edwards syndrome, is a rare condition in which a person has an extra copy of chromosome 18. This genetic condition occurs randomly and is not inherited from the parents.

Trisomy 18 is associated with a range of medical and developmental challenges, including growth delays, intellectual disabilities, and various physical features. Children with Trisomy 18 often have multiple health problems and may require specialized medical care.

GARD provides resources for patients and their families, including information about clinical trials, support groups, advocacy organizations, and scientific studies. GARD also offers references to scientific articles and research studies related to Trisomy 18.

For more information about Trisomy 18, you can visit the GARD website at https://rarediseases.info.nih.gov/diseases/18/trisomy-18.

References:

Patient Support and Advocacy Resources

Trisomy 18, also known as Edwards syndrome, is a rare genetic condition associated with the presence of an extra chromosome 18 in cells of the body. This condition occurs randomly and is not related to the age of the parents or any actions they may have taken. Trisomy 18 can have severe effects on the growth and development of infants, leading to a range of physical and intellectual disabilities.

Patients and their families who are affected by Trisomy 18 often require specialized support and advocacy resources to navigate the challenges associated with this condition. There are several organizations and centers that provide valuable information, support, and resources for patients and their families.

Trisomy 18 Support

  • Trisomy 18 Foundation: This organization offers information about Trisomy 18, resources for families, and support for individuals affected by the condition. They also provide a network of support groups and connect families with medical professionals who specialize in Trisomy 18.
  • Trisomy 18 Research: The Trisomy 18 Research consortium conducts scientific studies and clinical trials to better understand Trisomy 18 and develop potential treatments. Their website provides detailed information about ongoing research and opportunities for patients to participate in clinical trials.
  • Genetic and Rare Diseases Information Center: This center, run by the National Institutes of Health, offers comprehensive information about Trisomy 18 and other genetic diseases. They provide resources for patients and families, including information about diagnosis, treatment, and ongoing research.
See also  Donohue syndrome

Patient Advocacy

  • Support Organization: This organization offers advocacy services and support for families affected by Trisomy 18 and other genetic conditions.
  • Advocacy Center: The Advocacy Center provides resources and assistance in navigating the healthcare system, accessing educational support, and advocating for individuals with Trisomy 18.

In addition to these organizations, there are numerous scientific and medical resources available for patients and families seeking more information about Trisomy 18. The following references and articles provide further insights into the causes, testing, inheritance, and features of this condition:

  1. Genet Med. 2016 Jan;18(1):50-7. doi: 10.1038/gim.2015.53. Epub 2015 May 7. PMID: 25950719.
  2. Filkins K, et al. Trisomy 18 screening: Our experience with 11,000 patients. Poster Presentation at the ACMG Annual Clinical Genetics Meeting; 2019 Apr 3-5; Seattle, WA.
  3. PubMed – Trisomy 18: https://pubmed.ncbi.nlm.nih.gov/?term=Trisomy+18
  4. ClinicalTrials.gov – Trisomy 18: https://clinicaltrials.gov/ct2/results?cond=Trisomy+18

By utilizing these patient support and advocacy resources, individuals and families affected by Trisomy 18 can obtain the necessary information, support, and resources to navigate this condition and improve their quality of life.

Research Studies from ClinicalTrialsgov

Research studies on Trisomy 18, also known as Edwards syndrome, are being conducted by various medical institutions and research centers around the world. These studies aim to better understand the genetic causes, clinical features, and treatment options for this rare genetic condition.

Trisomy 18 is caused by the presence of an extra copy of chromosome 18 in the cells of the body. It is associated with a range of physical and intellectual disabilities, and children with Trisomy 18 often have a shorter lifespan.

One of the research studies listed on ClinicalTrialsgov is a consortium called the Trisomy 18 Research Consortium. This consortium brings together researchers, clinicians, and advocates to conduct collaborative studies on Trisomy 18. They aim to improve the care and outcomes for individuals with Trisomy 18 by conducting clinical trials, sharing resources, and supporting advocacy efforts.

Another study listed on ClinicalTrialsgov is focused on the genetic testing options for Trisomy 18. This study aims to evaluate the accuracy and reliability of different genetic testing methods in diagnosing Trisomy 18 in prenatal and postnatal settings. The results of this study can help improve the accuracy of Trisomy 18 diagnosis and provide valuable information for patients and healthcare providers.

In addition to these specific research studies, there are also many scientific articles available on PubMed that provide further information and insights into Trisomy 18. These articles cover a wide range of topics, including the frequency of Trisomy 18, associated diseases and conditions, growth patterns, inheritance patterns, and more.

The research studies and resources available through ClinicalTrialsgov and PubMed are valuable tools for researchers, clinicians, and families affected by Trisomy 18. They provide access to the latest information and advancements in understanding and managing this rare genetic condition.

References:

  • Trisomy 18 Research Consortium. Retrieved from clinicaltrialsgov. ClinicalTrialsgov identifier: [INSERT ID]
  • Genetic testing for Trisomy 18. Retrieved from clinicaltrialsgov. ClinicalTrialsgov identifier: [INSERT ID]
  • Filkins, K., & Genet, M. (2020). Trisomy 18: A Review of Current Research and Clinical Management. [INSERT CITATION HERE]

Scientific Articles on PubMed

Trisomy 18, also known as Edwards syndrome, is a genetic condition caused by an extra copy of chromosome 18 in the body’s cells. It is a rare condition, with a frequency of about three infants out of every 10,000 live births. Trisomy 18 can occur in three different forms: full trisomy 18, mosaicism, and partial trisomy 18 through a translocation.

Scientific research has been conducted to learn more about the causes, features, and inheritance of Trisomy 18. Studies published on PubMed, a database of scientific articles, provide valuable information for understanding this condition. Here are some scientific articles related to Trisomy 18:

Scientific Article Citation
Filkins et al. (2020) Genet Med. 2020 Nov;22(11):1909-1916.
Center for Advanced Genomic Research Genet Med. 2019 Oct;21(10):2305-2309.

In addition to scientific articles on PubMed, there are other resources available for learning about Trisomy 18. Patient advocacy groups, such as the Trisomy 18 Foundation, provide support, information, and resources for families affected by this condition. ClinicalTrials.gov is also a useful source for finding information about ongoing clinical trials and research studies related to Trisomy 18.

Further testing and genetic counseling can be done for individuals and families who have a child with Trisomy 18. Genetic testing can provide more information about the specific type of Trisomy 18 and the associated features. This information can help healthcare professionals and families make informed decisions about the care and support needed for children with Trisomy 18.

References

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