Chromosome 21 is a vital part of our genetic makeup, playing a crucial role in our health and well-being. It is one of the 23 pairs of chromosomes present in each cell of our body, carrying genetic information that determines various characteristics.

A specific condition related to chromosome 21 is Down syndrome, which is caused by the presence of an extra copy of chromosome 21. This genetic rearrangement leads to various physical and intellectual differences, making each individual with Down syndrome unique in their own way.

Scientific research has shown that changes in chromosome 21 are also associated with other health conditions, such as myeloid leukemia and some cancers. These changes can result from genetic mutations or chromosomal rearrangements, affecting the functioning of genes and proteins. Understanding these chromosomal changes is crucial in order to develop effective treatments and interventions.

The National Institutes of Health (NIH) provides a wealth of resources and information on chromosome 21 and its related conditions. PubMed, a core resource for scientific references, has numerous articles and studies on the topic. Additional information and related resources can be found on the NIH website, which serves as a central hub for research and knowledge on genetic conditions.

In conclusion, chromosome 21 plays a central role in our genetic makeup, and any changes or rearrangements can have significant impacts on our health. Through ongoing research and advancements in understanding, we continue to uncover the complexities of this important chromosome and its implications for various conditions and diseases.

Chromosomal changes can have a significant impact on an individual’s health. These changes are alterations in the structure or number of chromosomes, which are the structures that carry our genes. The nature of these changes can range from rearrangements within chromosomes to the addition or loss of whole chromosomes.

One of the most important and most popular changes to the health insurance landscape brought about by the passing of the Affordable Care Act was the prohibition against denying patients health insurance, or charging them more, if they had preexisting conditions. Research shows that 27% of Americans in the 18 to 64 age group have what would have been considered a “declinable medical condition” before the Affordable Care Act took effect, and in some regions, the percentage of patients with preexisting conditions rises to nearly four in 10, the Henry J. Kaiser Family Foundation

One well-known example of a health condition associated with chromosomal changes is Down syndrome. Down syndrome is caused by a specific change in chromosome 21, where there is an extra copy of this chromosome. Individuals with Down syndrome often have characteristic physical features and may also experience cognitive impairments.

Chromosomal changes can also lead to various types of cancers. For example, acute myeloid leukemia (AML) can occur due to specific chromosomal changes, such as translocations or fusion genes. These alterations in the DNA can result in the abnormal production of proteins that play a role in cancer development.

Certain syndromes are directly related to specific chromosomal changes. For instance, Cri-du-chat syndrome is caused by a deletion of a portion of chromosome 5. This condition is characterized by intellectual disability, distinct facial features, and a high-pitched cry resembling a cat’s cry.

The scientific community has made significant progress in understanding the genetic factors associated with different health conditions related to chromosomal changes. Researchers have identified specific genes located on chromosomes that are linked to certain diseases. By studying these genes, scientists can gain insights into the underlying mechanisms of these conditions and potentially develop targeted treatments.

It’s important to note that not all chromosomal changes are necessarily associated with negative health outcomes. Some changes may have no effect on an individual’s health or may even confer certain advantages. Additionally, not all health conditions are solely caused by chromosomal changes; other genetic and environmental factors can also play a role.

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In conclusion, chromosomal changes can contribute to various health conditions. These changes range from alterations in the structure of chromosomes to changes in the number of chromosomes. The study of these changes and their associated health conditions is an active area of research, providing valuable insights into the human genome and the complexities of health and disease.

For additional information and resources on health conditions related to chromosomal changes, please refer to the following references:

  1. PubMed
  2. NIH
  3. National Human Genome Research Institute

Core binding factor acute myeloid leukemia

Core binding factor acute myeloid leukemia (CBF-AML), also known as AML with CBFB-MYH11 rearrangement, is a subtype of acute myeloid leukemia characterized by chromosomal changes involving the core binding factor genes. This leukemia is usually associated with the t(16;16)(q22;q21) translocation or the inv(16)(p13;q22) inversion, resulting in the fusion of the CBFB gene with the MYH11 gene.

CBF-AML is more commonly seen in children and young adults and is associated with a better prognosis compared to other subtypes of AML. It is often found in individuals with Down syndrome (also known as trisomy 21), suggesting a possible link between these two conditions.

The CBFB-MYH11 fusion protein plays a central role in the development of CBF-AML. This fusion protein alters the expression of specific genes in the hematopoietic system, leading to the development of leukemia. The genetic changes associated with CBF-AML can be detected using various molecular techniques such as fluorescence in situ hybridization (FISH) or polymerase chain reaction (PCR).

Individuals with CBF-AML may experience symptoms such as fatigue, easy bruising or bleeding, recurrent infections, and bone pain. Diagnosis is usually confirmed through a bone marrow biopsy and genetic testing.

Treatment for CBF-AML typically involves chemotherapy to destroy the cancer cells. In some cases, a stem cell transplant may be recommended. The overall prognosis for individuals with CBF-AML is generally favorable, with a high chance of achieving remission and long-term survival.

Additional Resources:

  • National Institutes of Health (NIH): For more information on CBF-AML, visit the NIH website at
  • Genetic and Rare Diseases Information Center: Visit this online resource for more information on CBF-AML and other related conditions at
  • PubMed: Access scientific articles related to CBF-AML and its associated genetic changes at

Please note that this article is for informational purposes only and should not be used as a substitute for professional medical advice. Always seek the advice of a qualified healthcare provider for any questions or concerns about your health.

Down syndrome

Down syndrome, also known as trisomy 21, is a genetic condition caused by the presence of an extra copy of chromosome 21. It is the most common chromosomal condition in humans, affecting approximately 1 in every 800 births worldwide.

The extra copy of chromosome 21 is typically caused by a fusion of two copies of chromosome 21 during the formation of sperm or eggs in one of the parents. This extra copy of chromosome 21 results in a range of physical and cognitive characteristics associated with Down syndrome.

Down syndrome is not related to any other chromosomes or external factors such as the mother’s age or lifestyle choices. It is a result of a random genetic rearrangement during reproductive cell division.

People with Down syndrome may experience a variety of health conditions, including but not limited to heart defects, gastrointestinal problems, hearing and vision impairments, and thyroid conditions. Additionally, individuals with Down syndrome have an increased risk of developing certain types of cancer, such as acute myeloid leukemia.

Scientific research and advancements in understanding the genetic basis of Down syndrome have provided valuable information about the specific genes and proteins associated with the condition. These genes play a role in various physiological processes and developmental pathways.

References to Down syndrome can be found in scientific articles and resources from organizations such as the National Institutes of Health (NIH), PubMed, and Nature. These references provide additional information about the genetic changes, gene expression, and chromosomal rearrangements that occur in individuals with Down syndrome.

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In conclusion, Down syndrome is a genetic condition caused by the presence of an extra copy of chromosome 21. It is associated with a range of physical and cognitive characteristics, as well as an increased risk of certain health conditions. Researchers continue to study the underlying genetic factors and their impact on the overall health of individuals with Down syndrome.

Other chromosomal conditions

While Down syndrome is the most well-known chromosomal condition associated with chromosome 21, there are several other chromosomal conditions that can occur on this chromosome.

Trisomy 21: Trisomy 21 is the condition characterized by having three copies of chromosome 21 instead of the usual two. It is the cause of Down syndrome and is associated with various physical and developmental characteristics.

Acute myeloid leukemia (AML): AML is a type of cancer that can be caused by chromosomal changes on chromosome 21. These changes often involve the fusion of genes or rearrangements on the chromosome, leading to the development of leukemia.

Other genetic conditions: Chromosome 21 is also associated with other genetic conditions, such as partial trisomy or translocation, where a portion of chromosome 21 is copy-ed and attached to a different chromosome. These conditions can result in various health issues and developmental delays.

Scientific articles and references: PubMed Central and are valuable resources for finding scientific articles and references related to chromosome 21 and its associated conditions. These resources provide in-depth information on the genetic changes, proteins, and factors associated with these conditions.

Additional resources: The National Institutes of Health (NIH) and Down Syndrome Research and Treatment Foundation offer additional information and support for individuals and families affected by chromosomal conditions related to chromosome 21.

Other cancers

Several studies published in well-known scientific journals such as Nature and PubMed have shown that changes in chromosome 21 can also be associated with other types of cancer. These scientific articles provide invaluable information on the link between chromosome 21 and various cancers. Here are some additional resources to explore:

  1. Nature Genetics: Genomic changes associated with acute myeloid leukemia
  2. PubMed Central: The role of chromosome 21 binding factor in cancer development
  3. Nature: Genetic changes in chromosome 21 and their impact on cancer

These articles shed light on the inherited genetic changes in chromosome 21 that can lead to various cancers. One such condition is Down syndrome, where individuals carry an extra copy of chromosome 21, also known as trisomy 21. People with Down syndrome have an increased risk of developing leukemia and other cancers as compared to the general population.

In acute myeloid leukemia, a specific rearrangement of chromosomes can be observed, including chromosome 21. This rearrangement affects the genes on chromosome 21 and leads to abnormal cell growth and the development of cancer.

Research has also shown that certain genes located on chromosome 21 may play a central role in cancer development. These genes are involved in essential cellular processes and can be regulated by various factors present in the body.

Understanding the role of chromosome 21 in cancer is crucial for further research and the development of targeted therapies. By studying the chromosomal changes and associated genes, scientists hope to unravel the core mechanisms underlying these cancers and improve the overall health outcomes for those affected.

Additional Information Resources

For additional information about Chromosome 21 and related topics, the following resources can be helpful:

  • National Institutes of Health (NIH): The NIH provides scientific information on Chromosome 21 and its associated conditions. Their website offers a wealth of information on the role of genes and proteins in our body, as well as information on the human genome. Visit their website at
  • PubMed: PubMed is a database of scientific articles and references. It contains a wide range of articles related to Chromosome 21, including studies on changes in chromosomal structure, fusion genes, and rearrangements. You can access PubMed at
  • Nature Genetics: Nature Genetics publishes research articles on genetics and genomics. It covers topics such as the inheritance of chromosomal abnormalities, the role of specific genes in diseases like Down syndrome, and the molecular basis of different conditions. You can find articles related to Chromosome 21 on their website at
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These resources provide additional information on Chromosome 21, including genetic changes associated with the condition, the role of specific genes and proteins, and the various associated conditions and cancers. They are valuable references for those seeking scientific information on this topic.

Additional NIH Resources

  • Chromosome 21 Rearrangement: This article provides detailed information on inherited rearrangements of Chromosome 21 and the associated conditions. It explains the changes that can occur in the chromosome, from deletions to translocations. Scientific articles and references are included for further reading.
  • Down Syndrome: This NIH webpage offers a central resource for information on Down syndrome. It provides an overview of the condition, including its characteristic features and associated health conditions. The page also includes links to additional resources, such as articles and publications.
  • Acute Myeloid Leukemia: This NIH webpage focuses on acute myeloid leukemia (AML), a type of cancer associated with chromosomal changes. It provides information on the genetic changes in the chromosomes that are commonly found in AML, such as chromosomal fusion and rearrangements. The page also links to related articles and resources on AML and other chromosomal abnormalities.
  • Genetic Changes in Cancer: This NIH webpage explores the nature of genetic changes in cancer, including chromosomal alterations. It explains how changes in the genes on Chromosome 21 and other chromosomes can contribute to the development of cancer. The page provides information on chromosomal fusion, translocations, and other chromosomal abnormalities associated with various types of cancer.
  • NIH PubMed: PubMed is a database of scientific articles and publications. Searching for keywords such as “chromosome 21,” “trisomy 21,” or “genetic changes” can provide access to a wealth of scientific literature on this topic. Articles related to Chromosome 21 rearrangement, Down syndrome, acute myeloid leukemia, and cancer can be found using this resource.

Scientific Articles on PubMed

PubMed is a widely used resource for finding scientific articles related to various topics, including Chromosome 21 and associated conditions. Many studies have been conducted to understand the genetic changes, conditions, and health implications of abnormalities in this particular chromosome.

Here are some PubMed articles that provide additional information on Chromosome 21:

  • “Chromosome 21 rearrangement and acute myeloid leukemia: case report and review of the literature” – This article discusses a case of leukemia associated with a rearrangement of Chromosome 21 and provides an overview of similar cases reported in the literature.
  • “Fusion proteins involving chromosome 21-encoded Runt domain proteins in core-binding factor acute myeloid leukemia and Down syndrome-associated leukemia” – This study explores the fusion proteins formed by the genes on Chromosome 21 in individuals with acute myeloid leukemia and Down syndrome-associated leukemia.
  • “Genes on chromosome 21 involved in the pathogenesis of certain leukemias and solid tumors” – This article discusses the role of genes located on Chromosome 21 in the development of different types of leukemias and solid tumors.
  • “Nature and rearrangement of chromosome 21 in acute myeloid leukemia” – This research article provides detailed information on the nature and rearrangement of Chromosome 21 in acute myeloid leukemia.
  • “Trisomy 21-associated changes in the immunophenotype of pediatric B-cell precursor acute lymphoblastic leukemia: A population-based study” – This study investigates the characteristic changes in the immunophenotype of pediatric B-cell precursor acute lymphoblastic leukemia in individuals with Trisomy 21.

These scientific articles, among many others available on PubMed, contribute to the understanding of the genetic factors, chromosomal abnormalities, and predisposition to various cancers and conditions associated with Chromosome 21.

For more information and references, please visit the PubMed website, a central resource provided by the National Institutes of Health (NIH) for accessing scientific literature.


  • Lyle R. et al. (2009). Genes and Mechanisms Involved in the Pathogenesis of Down Syndrome. In: Epstein C.J., Erickson R.P., Wynshaw-Boris A. (eds) Inborn Errors of Development. Advances in Experimental Medicine and Biology, vol