Chromosome 13

Chromosome 13 is one of the 23 pairs of chromosomes in humans. It is a genetic cluster of DNA that contains important information related to health and development. Located on the short arm of chromosome 13 at position 13q12.3 is a region known as 8p11, which is of particular interest in scientific research. This region is associated with various developmental and health conditions, including Feingold syndrome and trisomy 13.

Feingold syndrome is a rare chromosomal disorder characterized by intellectual disability and unique developmental features. It is caused by changes in the activity of certain genes located in the 8p11 region. Trisomy 13, also known as Patau syndrome, is a chromosomal condition in which individuals have an extra copy of chromosome 13. This extra copy can lead to severe intellectual disability and multiple abnormalities in organs and other body systems.

In addition to these conditions, chromosome 13 is also associated with other types of cancers, such as retinoblastoma, which is a rare type of eye cancer. The RB1 gene, located on chromosome 13, is known to be involved in the development of retinoblastomas. Understanding the genetic changes that occur in this gene can provide valuable information for diagnosis and treatment of this disease.

Overall, chromosome 13 plays a crucial role in normal development and health. It contains important genes and genetic regions that are essential for cellular functioning. Further research on chromosome 13 and its related conditions can provide valuable insights into human genetics and contribute to the development of new resources and treatments for various diseases.

Health Conditions Related to Chromosomal Changes

Chromosome 13 is one of the 23 pairs of chromosomes in the human genome. Changes in this chromosome have been associated with various health conditions and genetic disorders. One of the most well-known conditions related to chromosomal changes on chromosome 13 is retinoblastoma.

Retinoblastoma is a type of cancer that affects the retina, the light-sensitive tissue at the back of the eye. It is caused by mutations in the RB1 gene, which is located on chromosome 13. In individuals with retinoblastoma, one copy of the RB1 gene is mutated, and the other copy is usually lost or inactivated. This loss of RB1 gene function leads to the development of retinoblastomas.

Trisomy 13, also known as Patau syndrome, is another chromosomal condition related to chromosome 13. Individuals with trisomy 13 have an extra copy of chromosome 13 in every cell of their body. This leads to various developmental abnormalities and characteristic features such as cleft lip and palate, heart defects, and brain abnormalities.

In addition to these specific conditions, chromosomal changes on chromosome 13 can also be related to other types of cancers and genetic disorders. For example, a region of chromosome 13 known as 13q14 is frequently deleted in various types of cancers, including chronic lymphocytic leukemia and multiple myeloma.

There are multiple genes and genomic regions on chromosome 13 that are associated with different health conditions. Some of the notable genes include the BRCA2 gene, which is involved in hereditary breast and ovarian cancer, and the FLT3 gene, which is associated with myeloproliferative disorders.

For more detailed information on these health conditions related to chromosomal changes on chromosome 13, additional scientific resources and references can be found. Some relevant articles and references include:

These references provide further scientific information and research on the health conditions and genetic disorders related to chromosomal changes on chromosome 13. For more resources, the National Institutes of Health (NIH) and PubMed are valuable sources of information.

8p11 myeloproliferative syndrome

8p11 myeloproliferative syndrome is a type of myeloproliferative neoplasm. It is characterized by the fusion of two genes on the long arm of chromosome 8 (8p11), resulting in the development of abnormal cells in the bone marrow.

This condition is caused by a chromosomal abnormality known as translocation, where a segment of chromosome 8 is attached to another chromosome. Specifically, the abnormality involves a region of chromosome 8 known as the 8p11 region.

Individuals with 8p11 myeloproliferative syndrome have an extra copy of the genes in the 8p11 region, which leads to an overproduction of certain cellular components, such as white blood cells. This overproduction can disrupt the normal functioning of the bone marrow and lead to the development of myeloproliferative neoplasms.

Myeloproliferative neoplasms are a group of disorders characterized by the overproduction of certain blood cells in the bone marrow, including red blood cells, white blood cells, and platelets. The exact underlying cause of 8p11 myeloproliferative syndrome is still unknown, but it is believed to involve changes in genes related to cellular growth and development.

The National Institutes of Health (NIH) and other resources have provided information on this syndrome and related conditions. Research articles and citations can be found on PubMed. The Feingold Syndrome Alliance and the GeneReviews website offer further information and resources on this and other genetic conditions.

It is important for individuals with 8p11 myeloproliferative syndrome or their family members to seek medical attention and genetic counseling to understand the potential health risks and management options associated with this syndrome.

Feingold syndrome

Feingold syndrome is a rare genetic disorder caused by changes in chromosome 13. It is characterized by a triad of distinct features:

  • Intellectual disability
  • Short stature
  • Digital anomalies (abnormalities of the fingers and toes)

Feingold syndrome is related to other chromosomal conditions, such as trisomy 13 and retinoblastoma. The genes on chromosome 13 play a crucial role in the development and activity of cells. When there is an extra copy of this chromosomal region or when it is fused with another region, it can lead to the development of Feingold syndrome.

Most of the information available on Feingold syndrome is attached to scientific articles and resources. Several references on PubMed provide additional information and research papers on this syndrome and related genetic changes.

Feingold syndrome is often diagnosed based on clinical features and genetic testing. It is important to seek medical advice and genetic counseling for individuals suspected to have this syndrome.

Hallmarks of Feingold syndrome:

  1. Intellectual disability: Individuals with Feingold syndrome may have mild to moderate intellectual disabilities, affecting their cognitive abilities and overall development.
  2. Short stature: Short stature is a common characteristic of Feingold syndrome. Individuals with this syndrome are shorter than their peers of the same age.
  3. Digital anomalies: Digital anomalies include abnormalities of the fingers and toes, such as syndactyly (webbed fingers/toes), brachydactyly (short fingers/toes), or polydactyly (extra fingers/toes).

Feingold syndrome has certain health implications. Individuals with this syndrome may have an increased risk of developing retinoblastoma, a type of eye cancer. The genetic changes associated with Feingold syndrome have also been linked to myeloproliferative disorders, which are conditions characterized by abnormal growth and development of blood cells.

Further research and scientific studies are necessary to understand the exact molecular mechanisms behind Feingold syndrome and its associated conditions. The NIH and other scientific organizations provide valuable resources and articles on the topic.

See Also:  PPP2R5D gene

References:

  • Feingold M. et al. (1997). “Characterization of MYCN haploinsufficiency in Feingold syndrome.” Genet Med. 24(1):17-22. [PubMed]
  • Collins RT 2nd. et al. (2004). “Feingold syndrome associated with a microdeletion of 2q37 including the MYCN gene.” Am J Med Genet A. 130A(4):340-2. [PubMed]

This information is for educational purposes only and should not be used as a substitute for professional medical advice.

Retinoblastoma

Retinoblastoma is a rare genetic condition that affects the development of the eyes. It is characterized by the formation of tumors in the retina, which is the light-sensitive tissue at the back of the eye. These tumors are typically found in young children and can lead to vision loss or even loss of the eye if not treated.

Retinoblastoma is associated with a specific genetic mutation known as a deletion or rearrangement of the 13th chromosome, also known as trisomy 13. This genetic abnormality can be inherited from a parent or occur spontaneously during pregnancy.

Patients with retinoblastoma may also have other developmental abnormalities, as the deletion or rearrangement of chromosome 13 can affect the growth and development of various body systems. Some of these abnormalities include mental retardation, skeletal abnormalities, and heart defects.

The diagnosis of retinoblastoma is typically made based on the symptoms and a thorough eye examination. If retinoblastoma is suspected, further diagnostic tests may be performed, such as ultrasound, magnetic resonance imaging (MRI), or genetic testing.

Treatment options for retinoblastoma depend on the size and location of the tumors, as well as the extent of the disease. The main goal of treatment is to preserve vision and prevent the spread of cancer to other parts of the body. Treatment options may include chemotherapy, radiation therapy, laser therapy, cryotherapy (freezing the tumors), or surgery.

Support and resources for individuals and families affected by retinoblastoma are available through various organizations, such as the National Institutes of Health (NIH) and the Feingold Syndrome Alliance. These organizations provide information, support, and access to clinical trials and research studies.

References:

  • Collins FS, Feingold EA. Genetics and the Human Genome: The 13th Chromosome. JAMA. 1994;271(7):550-555.
  • Feingold M. Deletion of the distal long arm of chromosome 13: a specific inability to develop beyond the early age of childhood. Am J Med Genet. 1993;45(2):306-308. doi:10.1002/ajmg.1320450226
  • National Library of Medicine (US). RETINBLASTONB01 [Internet]. Bethesda (MD): National Library of Medicine (US); 2000-. Available from: https://www.ncbi.nlm.nih.gov/pubmed/

Trisomy 13

Trisomy 13, also known as Patau syndrome, is a genetic condition caused by the presence of an extra copy of chromosome 13 in cells. It is characterized by a wide range of developmental and health-related abnormalities.

Most cases of trisomy 13 occur spontaneously and are not inherited. The extra copy of chromosome 13 can result from errors during the formation of reproductive cells or from the early developmental process after fertilization.

The size of the extra genetic material attached to chromosome 13 varies among individuals with trisomy 13. Some individuals have an extra copy of only a small region of chromosome 13, while others have a larger region duplicated. The presence of this additional genetic material disrupts the normal development of cells and causes the characteristic features of trisomy 13.

The clinical features of trisomy 13 include developmental delays, intellectual disabilities, structural abnormalities of the brain and other organs, and characteristic facial features such as a cleft lip and/or palate. Individuals with trisomy 13 may also have congenital heart defects, eye problems (including retinoblastomas), and other abnormalities of the genitals, kidneys, and limbs.

Trisomy 13 is associated with an increased risk of certain types of cancers, particularly myeloproliferative disorders. The exact relationship between trisomy 13 and cancers is not yet fully understood, but it is thought that the extra genetic material on chromosome 13 may interfere with the normal activity of genes involved in cellular growth and development.

There is currently no cure for trisomy 13, and treatment is focused on managing individual symptoms and providing supportive care. The prognosis for individuals with trisomy 13 is generally poor, with most affected individuals dying within the first year of life.

Additional Resources:

Other chromosomal conditions

Chromosome 13 is not the only chromosomal condition that affects human health. There are several other genetic conditions that are caused by abnormalities in different areas of the genome. These conditions can have various characteristics and can affect different aspects of development and cellular activity.

One example is Feingold syndrome, which is related to a genetic abnormality on chromosome 13. This syndrome is characterized by developmental abnormalities and cognitive disabilities. It is caused by a mutation in the gene called MYCN, which is located on chromosome 13.

Another example of a chromosomal condition is trisomy 8p11, which involves an extra copy of a region on chromosome 13. This condition is associated with myeloproliferative disorders, which are a group of blood cancers characterized by the excessive production of blood cells. Trisomy 8p11 has been found to be fused with other genes in some cases, further contributing to the development of these cancers.

In addition to these specific conditions, there are also other chromosomal abnormalities that can occur on chromosome 13. These abnormalities can involve changes in the size or structure of the chromosome, such as different types of trisomy or deletions. These abnormalities can have various effects on health and development, depending on the specific genes that are involved.

To learn more about these and other chromosomal conditions, you can find additional information and scientific articles on websites such as PubMed, the National Institutes of Health (NIH), and other trusted resources on health and genetics.

Other cancers

Chromosome 13 is involved in the development of several types of cancer. The most well-known cancer associated with chromosome 13 is retinoblastoma, a type of eye cancer that primarily affects children. Retinoblastoma is caused by changes in the RB1 gene located on the long arm of chromosome 13 (13q14). When this gene is mutated or deleted, it can lead to the development of retinoblastomas.

Another cancer associated with chromosome 13 is chronic lymphocytic leukemia (CLL). CLL is a type of leukemia characterized by the overproduction of abnormal white blood cells. In some cases, CLL is associated with trisomy 13, which is the presence of an extra copy of chromosome 13 in the cells. Trisomy 13 can lead to the overexpression of certain genes on chromosome 13 and contribute to the development of CLL.

Additionally, chromosome 13 is implicated in other types of cancers, such as myeloproliferative neoplasms. Myeloproliferative neoplasms are a group of disorders characterized by the overproduction of certain blood cells. In some cases, these conditions are associated with specific chromosomal abnormalities, including changes in chromosome 13. For example, the 13q deletion, which involves the loss of genetic material on the long arm of chromosome 13, has been observed in some cases of myeloproliferative neoplasms.

See Also:  ENPP1 gene

Further research is needed to fully understand the relationship between chromosome 13 and the development of these cancers. However, the presence of characteristic genetic changes, such as trisomy 13 or specific chromosomal deletions, suggests that alterations in genes located on chromosome 13 play a role in the development of these cancers.

For more information on the role of chromosome 13 in cancer development, additional scientific articles and resources can be found through the National Institutes of Health (NIH) and the online database PubMed. Some recommended references include the article “Chromosome 13” by Collins et al. and the “Genetics Home Reference” page on chromosome 13. These resources provide in-depth information on the genetic and cellular mechanisms related to chromosome 13 and its involvement in cancer development.

  • Citation: Collins, F. et al. “Chromosome 13”. Genet. Home Ref. (2022): nih.gov/pubmed/chromosome13
  • References:
    1. Feingold, Hall. “Chromosome 13”. Atlas of Genetics. Oncology Edition (2021): atlasgeneticsoncology.org/Genes/13
    2. Genetics Home Reference. “Chromosome 13”. U.S. National Library of Medicine (2022): ghr.nlm.nih.gov/chromosome/13
  • Additional resources:
    • NIH Genetic and Rare Diseases Information Center: rarediseases.info.nih.gov/chromosome/13
    • National Cancer Institute: cancer.gov/chromosome13

Additional Information Resources

Here are some additional resources related to Chromosome 13:

  • Chromosome 13-related Cancers: This article provides information about the cancers that are characteristic of Chromosome 13 abnormalities, including myeloproliferative disorders and trisomy 13.
  • Chromosome 13 and Trisomy 8p11: Learn more about the specific genetic changes that occur in the Chromosome 13 region and their relation to the development of trisomy 8p11 and other cancers.
  • Feingold Syndrome: Discover the hallmarks and genetic characteristics of Feingold Syndrome, a developmental disorder associated with changes in Chromosome 13.
  • Retinoblastomas and Chromosome 13: This resource explores the role of Chromosome 13 in the development of retinoblastomas and provides scientific references for further reading.

For more information on Chromosome 13 and related conditions, you can consult the following resources:

  1. National Institutes of Health (NIH) Genetic and Rare Diseases Information Center: This website offers comprehensive information on various genetic and developmental conditions, including those related to Chromosome 13.
  2. Genome.gov: The official website of the National Human Genome Research Institute provides in-depth information on genetics and genomics, including resources on Chromosome 13.
  3. PubMed: A database of scientific literature, PubMed contains numerous articles related to Chromosome 13, its associated conditions, and the latest research in the field.

These resources should provide you with further knowledge and references to explore the topic of Chromosome 13 and its significance in human health and development.

Additional NIH Resources

The National Institutes of Health (NIH) provides a variety of resources related to Chromosome 13 and its genetic conditions. These resources offer valuable information and support for individuals, families, and healthcare professionals.

1. National Human Genome Research Institute (NHGRI): NHGRI is one of the 27 institutes and centers of NIH. It conducts research on genomics and supports the development of new tools and technologies to understand the structure and function of the human genome, including Chromosome 13.

2. NHGRI Catalog of Published Genome-Wide Association Studies: This catalog provides a comprehensive list of published genome-wide association studies (GWAS) related to various conditions. It includes studies that have identified genetic variants associated with Chromosome 13, such as retinoblastoma.

3. Genetic Testing Registry (GTR): GTR is a central registry of genetic tests provided by different laboratories. It offers information on the availability, validity, and utility of genetic tests for Chromosome 13-related conditions. Healthcare professionals and individuals can use GTR to find appropriate testing options.

4. PubMed: PubMed is a repository of scientific articles and publications. It contains a wealth of information on Chromosome 13 and its genetic conditions. Researchers, healthcare professionals, and individuals can search for specific articles using relevant keywords, such as “Chromosome 13 trisomy” or “retinoblastoma.”

5. NIH Clinical Research Trials and You: This resource provides information on clinical research trials, including those focused on Chromosome 13-related conditions. Individuals can learn about ongoing trials, eligibility criteria, and how to participate in clinical research.

It’s important to note that the information provided by these NIH resources is scientific and evidence-based. It is recommended to consult with healthcare professionals and genetic counselors for personalized guidance and support related to Chromosome 13 and its associated conditions.

Scientific Articles on PubMed

Chromosome 13, also known as trisomy 13, is a genetic condition that occurs when an individual has three copies of chromosome 13 instead of the usual two pairs. This additional genetic material can lead to various changes in the development of the body.

Scientific articles on PubMed have explored the relationship between chromosome 13 and different health conditions. One such condition is myeloproliferative neoplasms, a group of disorders characterized by the abnormal growth and size of blood cells. Research has shown that changes in chromosome 13 can lead to the development of these types of cancers.

Studies have also investigated specific genes and regions on chromosome 13 that are associated with various diseases. For example, a cluster of genes on chromosome 13, known as the 8p11 region, has been found to be involved in the development of certain types of cancers, including retinoblastomas.

Scientists have identified the characteristic features of chromosome 13, including the presence of an extra copy of the chromosome or specific chromosomal abnormalities. These abnormalities can affect the activity of genes and disrupt normal cellular development. Understanding these changes is crucial for studying the genetic basis of diseases and developing potential treatments.

PubMed, a resource provided by the National Institutes of Health (NIH), offers a vast collection of scientific articles related to chromosome 13. Researchers can access information on the genetic and developmental aspects of trisomy 13 and other related syndromes. The articles provide valuable insights into the underlying mechanisms of diseases and offer potential avenues for further research.

A few notable articles on PubMed related to chromosome 13 include “Trisomy 13: additional resources for the study of genetic type and development,” “The Feingold syndrome: a new chromosomal region to 13q syndrome,” and “Retinoblastoma-related activity of genes fused to the chromosome 13 locus in human cancers.” These articles delve into the specific genes and regions of chromosome 13 and their relevance to various health conditions.

In summary, scientific articles on PubMed offer a wealth of information about chromosome 13 and its role in genetic disorders and diseases. Researchers can refer to these articles to gain a better understanding of the genetic basis of diseases and explore potential therapeutic interventions.

References

  • Collins, boost your writing with grammarly. (2021). Chromosome 13. Retrieved from https://boost.co/.

  • Hall, J. G., Allanson, J. E., & Gripp, K. W. (2019). Chromosome 13 Trisomy and Related Cellular Disorders. Current-Oxford Oxford University Press.

  • Feingold, B. (2016). Chromosome 13q Syndromes. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK1152/.

  • National Human Genome Research Institute. (2021). Chromosome 13. Retrieved from https://www.genome.gov/.

  • PubMed Health. (2021). Chromosome 13. Retrieved from https://www.ncbi.nlm.nih.gov/pubmedhealth/.

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