Chromosome 5 is one of the 23 pairs of chromosomes in humans. It is an important part of the human genome, containing a wealth of information crucial for the development and functioning of the body. Analysis of this chromosome has provided insights into various conditions that can occur when there are changes in the genetic material. Heterotopia, periventricular and PURα fusion are some of the known abnormalities associated with chromosome 5.

One well-known condition related to chromosome 5 is the Cri-du-Chat syndrome, which is characterized by a deletion in the short arm of the chromosome. This deletion leads to developmental and cognitive issues in affected individuals. Additionally, chromosome 5 is associated with various forms of cancer, such as leukemia and eosinophilic disorders, which further highlight its critical role in health and disease.

One of the most studied genes on chromosome 5 is ETV6, which is involved in normal blood cell development. Mutations or deletions of this gene can cause leukemia and other blood-related conditions. Furthermore, research has identified a number of other genes on chromosome 5 that are associated with different developmental and medical conditions.

Understanding the structure and function of chromosome 5 is of great importance in the scientific community. It provides additional resources and knowledge for studying related syndromes and conditions. Advances in genetic analysis have allowed researchers to gain a deeper understanding of chromosome 5 and its impact on human health and development. Publications and articles on chromosome 5 can be found on platforms such as PubMed, providing valuable references for further research.

Chromosome 5 holds within it a vast amount of genetic material that is critical for an individual’s lifetime. From understanding biological processes to unraveling the mysteries of cancer and developmental conditions, chromosome 5 plays a significant role in human health. The study of this chromosome continues to reveal new insights and open up new avenues for research and treatment options.

Changes in chromosome structure or number can lead to various health conditions. These genetic alterations can cause disruptions in the normal flow of genetic information, resulting in different disorders and diseases. Some of the health conditions related to chromosomal changes are:

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  • Microdeletion syndrome: This is characterized by the deletion of a small piece of genetic material on a chromosome. One example is the cri-du-chat syndrome, which occurs due to a deletion in the short arm of chromosome 5 (5p-). Individuals with this syndrome have developmental delays, characteristic facial features, and a high-pitched cry similar to a cat.
  • PDGFRB-associated disorders: Changes in the PDGFRB gene, located on chromosome 5, are associated with various developmental disorders. These include disorders like developmental delays, cortical dysplasia-focal epilepsy syndrome type 4, and other brain abnormalities.
  • ETV6-related disorders: Alterations in the ETV6 gene on chromosome 12 can result in various conditions, including leukemia, heterotopia, and other developmental disorders.
  • PURA syndrome: This syndrome is caused by mutations in the PURA gene on chromosome 5. It leads to a range of health issues, including developmental delays, intellectual disability, seizures, and other neurological problems.
  • 5q deletion syndrome: A deletion in the long arm of chromosome 5 (5q31.3) can give rise to this syndrome. It is associated with certain types of cancers, such as myelodysplastic syndrome and acute myeloid leukemia. It can also cause intellectual disability and other health challenges.

These are just a few examples of health conditions that can occur due to chromosomal changes. There are many other conditions and disorders that are associated with alterations in specific chromosomes.

Scientific research and analyses, such as those available on PubMed, provide valuable information about the relationship between chromosomal changes and various health conditions. Further studies and genetic investigations are ongoing to understand the precise mechanisms and effects of these genetic alterations.

5q minus syndrome

5q minus syndrome, also known as 5q- syndrome or del(5q) syndrome, is a chromosomal abnormality characterized by the deletion of part of the long arm of chromosome 5, specifically the region 5q313. It is a relatively rare condition that primarily affects the development of blood cells.

5q minus syndrome is often associated with myelodysplastic syndromes (MDS), a group of disorders in which the bone marrow does not produce enough healthy blood cells. In 5q minus syndrome, there is a specific deletion of chromosome 5 material, leading to abnormal development and function of blood cells, especially red blood cells.

The characteristic clinical features of 5q minus syndrome include macrocytic anemia, thrombocytosis (abnormally high platelet count), and abnormal eosinophils. Eosinophils are a type of white blood cell involved in the immune response. The abnormal eosinophils seen in 5q minus syndrome can help differentiate it from other types of MDS.

5q minus syndrome is also associated with an increased risk of developing acute myeloid leukemia (AML), a type of cancer that affects the blood and bone marrow. However, the risk of leukemia in 5q minus syndrome is lower compared to other types of MDS.

The exact cause of 5q minus syndrome is not known, but it is thought to be related to a loss of critical genetic material on chromosome 5. One of the genes on chromosome 5q313 that is thought to be involved in 5q minus syndrome is called PURA (purine-rich element binding protein A). Loss of the PURA gene is believed to play a key role in the characteristic features of the syndrome.

Diagnosis of 5q minus syndrome is generally made based on clinical and laboratory findings. A bone marrow biopsy may be performed to evaluate the morphology and karyotype of the bone marrow cells.

Treatment options for 5q minus syndrome vary depending on the severity of the symptoms and individual patient factors. Supportive care, such as blood transfusions and erythropoiesis-stimulating agents, may be used to manage anemia and other symptoms. In some cases, targeted therapies such as lenalidomide may be used to specifically address the genetic abnormalities associated with 5q minus syndrome.

See also  Horner syndrome

Additional information and resources about 5q minus syndrome can be found through organizations such as the National Institutes of Health (NIH) and PubMed, which provide access to scientific articles and clinical studies related to the syndrome. These resources are valuable for further understanding the molecular and genetic basis of 5q minus syndrome, as well as potential therapeutic approaches.


  1. Giagounidis, A. A. N., Germing, U., & Aul, C. (2005). Biological and prognostic significance of chromosome 5q deletions in myeloid malignancies. Clinical Haematology, 18(4), 747–769.
  2. Slovak, M. L., Wiley, J. M., & Tawfik, O. (2018). Myelodysplastic Syndromes – 5q- Syndrome. In StatPearls. StatPearls Publishing.
  3. Steensma, D. P. (2019). Myelodysplastic syndromes: Diagnosis and treatment. Mayo Clinic Proceedings, 94(5), 878–894.

5q313 microdeletion syndrome

5q313 microdeletion syndrome is a rare genetic disorder characterized by the loss of genetic material in a specific region of chromosome 5. It is also known as 5q313 deletion syndrome or 5q minus syndrome. This syndrome is thought to occur as a result of a microdeletion, which is an abnormal deletion of a small part of a chromosome.

Individuals with 5q313 microdeletion syndrome may exhibit a variety of characteristic features, including developmental delays, intellectual disabilities, abnormal brain development (such as periventricular heterotopia), and facial dysmorphism. In addition, individuals with this syndrome may have health conditions such as eosinophilic disorders, chronic leukemia, or other related health issues.

The loss of genetic material in the 5q313 region is also associated with the occurrence of additional genetic conditions and syndromes. For example, the cri-du-chat syndrome, a condition characterized by a distinct cat-like cry, is related to deletions in this region.


The 5q313 microdeletion syndrome is caused by the deletion of genetic material in the 5q31.3 region of chromosome 5. This region contains several genes that play important roles in normal development and cellular function. The loss of these genes can disrupt normal cellular processes, leading to the characteristic features and health conditions associated with this syndrome.


The diagnosis of 5q313 microdeletion syndrome is typically made through genetic testing, such as chromosomal microarray analysis. This test can detect the presence of deletions in the 5q31.3 region of chromosome 5.

Treatment and Management:

There is currently no cure for 5q313 microdeletion syndrome, and treatment is supportive and focused on managing the individual symptoms and associated health conditions. This may include therapies for developmental delays, educational interventions for intellectual disabilities, and medical management for any specific health issues that arise.

Resources for Further Information:

  • PubMed: A database of scientific articles with information on the latest research and advancements related to 5q313 microdeletion syndrome and related conditions. (References: 5q313 microdeletion syndrome, chromosome 5, genetic disorders)

  • OMIM: Online Mendelian Inheritance in Man database provides information on the genetics, clinical features, and management of 5q313 microdeletion syndrome. (Reference: 5q313 microdeletion syndrome)

  • Genetic and Rare Diseases Information Center (GARD): A resource providing information on 5q313 microdeletion syndrome, including symptoms, causes, diagnosis, and management options. (Reference: 5q313 microdeletion syndrome)

Further research and genetic analysis are needed to better understand the specific genes and proteins involved in 5q313 microdeletion syndrome, as well as to develop potential targeted treatments that may improve the outcomes for individuals with this condition.

Cri-du-chat syndrome

Cri-du-chat syndrome, also known as 5p- syndrome, is a chromosomal disorder that results from a deletion of a part of chromosome 5. It is characterized by a high-pitched cry that sounds like a cat and intellectual disability.

The syndrome was first described in 1963 by Jérôme Lejeune, a French geneticist. The name “cri-du-chat” is French for “cry of the cat,” which refers to the characteristic cry of affected infants.

The deletion in chromosome 5 occurs in the region designated as 5p15.2-5p15.3. This loss of genetic material leads to various developmental and physical abnormalities associated with cri-du-chat syndrome.

Common clinical features of the syndrome include microcephaly (small head size), round face, hypertelorism (widely spaced eyes), epicanthal folds (upward slanting eyelid folds), low-set ears, and a small chin.

In addition to these characteristic physical features, individuals with cri-du-chat syndrome may also have developmental delays, intellectual disability, and speech and language difficulties.

Although the deletion of chromosome 5 is the main cause of cri-du-chat syndrome, there are also other chromosomal changes that occur in some cases. These changes are known as “variants” and can involve other parts of chromosome 5 or other chromosomes.

The prevalence of cri-du-chat syndrome is estimated to be about 1 in 50,000 to 1 in 20,000 newborns. It is thought to occur equally in males and females.

The diagnosis of cri-du-chat syndrome is usually made based on the characteristic physical features and confirmed through genetic testing, such as a chromosomal analysis.

There is no specific treatment for cri-du-chat syndrome, but early intervention and supportive care can help improve the quality of life for individuals with the syndrome.

Scientific research has provided valuable information about the underlying genetic and cellular mechanisms of cri-du-chat syndrome. Studies have identified specific genes within the deleted region of chromosome 5 that may contribute to the characteristic features of the syndrome.

Chromosome 5 is also associated with other conditions and syndromes, including leukemia, eosinophilic disorders, and some types of cancer. Researchers are still working to understand how these genetic changes are related and how they impact health.

References to find additional information about cri-du-chat syndrome and related topics:

PDGFRB-associated chronic eosinophilic leukemia

PDGFRB-associated chronic eosinophilic leukemia is a type of cancer that affects the blood cells called eosinophils. Eosinophils are a type of white blood cell that helps the body fight off infections and plays a role in allergic reactions. In this condition, there is an abnormality involving chromosome 5, specifically the region designated as 5q313.

Chromosomes are structures in the cells that contain our genes, which are the instructions for how our bodies develop and function. Abnormalities in chromosomes can lead to various health conditions and cancers. In the case of PDGFRB-associated chronic eosinophilic leukemia, there is a change in the chromosome 5, specifically a deletion of genetic material.

See also  Adermatoglyphia

The loss of genetic material from chromosome 5q313 can occur as a result of a microdeletion, which is a small deletion of genetic material. This abnormality can lead to the fusion of genes PDGFRB and ETV6, resulting in the production of abnormal fusion proteins. These fusion proteins contribute to the development of the characteristic features of PDGFRB-associated chronic eosinophilic leukemia.

PDGFRB-associated chronic eosinophilic leukemia is thought to be a rare condition, and additional research is needed to fully understand its causes and mechanisms. However, it is known to be related to other conditions and syndromes that involve abnormalities or changes in chromosome 5. For example, cri-du-chat syndrome, a condition caused by a deletion of genetic material on the short arm of chromosome 5 (5p-), has been associated with PDGFRB-associated chronic eosinophilic leukemia.


Periventricular heterotopia

Periventricular heterotopia is a condition known as a genetic disorder that affects the development of the brain. It is characterized by the presence of additional brain cells in the periventricular region, which is the area surrounding the ventricles of the brain. This condition is caused by certain genetic deletions, specifically microdeletions on chromosome 5.

Periventricular heterotopia is often associated with other health issues, including chronic developmental delay, epilepsy, and intellectual disability. These symptoms can vary in severity depending on the extent of the genetic deletion. The scientific community has identified several genes located in the deleted region of chromosome 5 that play a critical role in brain development and function.

Genetic analysis, such as fluorescence in situ hybridization (FISH), can be used to detect the presence of chromosome 5 deletions. This analysis provides valuable information related to the abnormal genetic material and can help with the diagnosis of periventricular heterotopia and other related conditions. References to scientific articles and other resources related to this condition can be found on the NIH’s PubMed website.

One specific deletion on chromosome 5, designated as 5q31.3, is related to a condition called PURA syndrome. This syndrome is characterized by intellectual disability, epilepsy, abnormal brain MRI findings, and other health issues. Additionally, other genetic abnormalities involving chromosome 5, such as chromosomal fusion with other chromosomes (e.g., ETV6-related fusion proteins and PDGFRB-associated fusion proteins), have been associated with various forms of cancer.

In conclusion, periventricular heterotopia is a genetic disorder characterized by the presence of additional brain cells in the periventricular region. It is caused by specific deletions on chromosome 5 and can lead to various health issues. Genetic analysis is available to detect these deletions and provide clinical information for diagnosis and treatment. Further research is ongoing to better understand the genetic and cellular mechanisms associated with periventricular heterotopia and related conditions.

Other chromosomal conditions

Chromosome 5 is also associated with several other chromosomal conditions. These conditions can result from changes in the structure or number of chromosomes, leading to various forms of genetic disorders.

One well-known chromosomal condition associated with chromosome 5 is the Cri-du-chat syndrome, which is characterized by a deletion in the short arm of chromosome 5. This condition is named after the distinctive cry of affected infants, which sounds like a cat’s cry.

Another condition related to chromosome 5 is the 5q- syndrome, also known as the 5q313 microdeletion syndrome. This syndrome is caused by a deletion of genetic material on the long arm of chromosome 5. It is characterized by specific developmental and health issues, including anemia and abnormalities in bone marrow cells.

There are also other deletions and syndromes associated with chromosome 5, such as the PDGFRB-associated chronic eosinophilic leukemia and the 5q-syndrome-related eosinophilic disorders. These conditions are characterized by abnormal growth of eosinophils, a type of white blood cell, and are known to be associated with specific changes in genes located on chromosome 5.

Other chromosomal conditions related to chromosome 5 include periventricular heterotopia and a fusion of chromosome 5 with other chromosomes. Periventricular heterotopia is a brain abnormality in which gray matter is located outside its normal position near the brain’s ventricles. The fusion of chromosome 5 with other chromosomes can occur as a result of chromosomal rearrangements and can lead to various genetic disorders.

These chromosomal conditions can have critical implications for a person’s health and development. It is important for individuals and their families to seek appropriate medical attention and support when dealing with these conditions. There are resources available for those working with or affected by these conditions, such as articles and references in scientific journals like PubMed and the American Journal of Medical Genetics. Additionally, genetic counseling and support groups can provide valuable information and assistance.

Additional Resources:

Other cancers

Chromosome 5 abnormalities, especially deletions of the long arm of chromosome 5 (5q), have been identified in various other cancers. These deletions are often associated with changes in the genetic material of the cells, resulting in the loss or alteration of critical genes.

One condition related to chromosome 5 abnormalities is the 5q-syndrome, a type of myelodysplastic syndrome (MDS) characterized by deletions in the long arm of chromosome 5. Clinical studies have shown that these deletions are associated with abnormal changes in the bone marrow cells, leading to the development of MDS, which can progress to acute myeloid leukemia (AML). The deletion of a specific region of chromosome 5, designated as 5q-, is a characteristic feature of the 5q-syndrome.

In addition to the 5q-syndrome, other cancers such as leukemia and brain tumors have also been associated with chromosome 5 abnormalities. For example, the ETV6-RUNX1 fusion gene, which is a genetic change involving chromosomes 12 and 21, is frequently found in pediatric acute lymphoblastic leukemia (ALL) and is thought to play a critical role in the development of the disease.

Another example is the chromosomal abnormality known as the cri-du-chat syndrome, which results from a deletion of a part of chromosome 5. This syndrome is characterized by a distinctive cat-like cry in infancy and is associated with developmental and intellectual disabilities.

See also  DNM2 gene

Studies analyzing the genetic changes associated with these cancers and related conditions have identified specific genes on chromosome 5 that are critical for normal cell functioning. For example, the PURA gene, located on chromosome 5, has been found to be involved in various developmental and neurological disorders. Research on the PURA gene and other genes on chromosome 5 has provided valuable insights into the molecular mechanisms underlying these conditions.


  • Huret J.L. et al. (2007). “Chromosome 5.” Journal of Medical Genetics.
  • National Center for Biotechnology Information (NCBI) website:
  • NIH Genetic and Rare Diseases Information Center website:
  • American Society of Hematology website:

Additional Information Resources

Additional information on Chromosome 5 and related topics can be found in the following resources:

  • The National Institutes of Health (NIH) website offers a wealth of information on genetic conditions and related health topics. Visit their website at for more information.

  • The National Center for Biotechnology Information (NCBI) provides access to various scientific articles and research materials. Visit their website at to search for articles and publications related to Chromosome 5.

  • PubMed Central is a digital archive of biomedical and life sciences journal literature. You can find articles and research papers on Chromosome 5 and its associated conditions on their website:

Specific chromosomal abnormalities and conditions associated with Chromosome 5 include:

Genetic Condition Description
ETV6 deletion Deletion of the ETV6 gene on Chromosome 5q is often seen in patients with certain types of leukemia.
PDGFRB-associated conditions Abnormal fusion of the PDGFRB gene on Chromosome 5 with other genes can lead to various cancers and conditions.
PURA syndrome A rare genetic disorder caused by a mutation or deletion of the PURA gene on Chromosome 5. It is characterized by developmental delays, seizures, and other neurological features.
Cri-du-chat syndrome A chromosomal condition resulting from a deletion on the short arm of Chromosome 5. It is characterized by a distinct cat-like cry in infancy and developmental delays.
Microdeletion syndromes Various microdeletion syndromes can occur on Chromosome 5, leading to unique sets of symptoms and health problems.

It is important to note that the information provided here is just a part of the available information on Chromosome 5 and its associated conditions. Further analysis and research are necessary to fully understand the genetic and clinical implications of these abnormalities and conditions.

Additional NIH Resources

For additional information about microdeletion conditions and cancers thought to be associated with loss of genes on chromosome 5, the National Institutes of Health (NIH) provides a range of resources on health conditions and research related to chromosome 5q deletions and other genetic abnormalities.

Resources Description

PubMed is a database of scientific articles that contains critical information on health and genetics. It offers a wide range of research articles related to chromosome 5q deletions, including those associated with genetic changes in the PDGFRB gene, eosinophils, and fusion proteins.

PDGFRB-associated Eosinophilic Leukemia

This resource provides references to articles and clinical information about PDGFRB-associated eosinophilic leukemia, a particular form of leukemia associated with chromosome 5q deletions and abnormal PDGFRB gene.

Periventricular Heterotopia

Periventricular heterotopia is a condition designated by abnormal migration of neurons in the central part of the brain. This resource provides information about the genetic changes associated with chromosome 5q deletions and their role in periventricular heterotopia.


The PURA gene, located on chromosome 5, is associated with several syndromes and conditions. This resource offers information about the genetic changes, clinical features, and available scientific research related to PURA and chromosome 5q deletions.

The NIH resources mentioned above are just a few examples of the available material related to chromosome 5 and associated conditions. By exploring these resources, individuals can gain valuable insight into the genetic changes, clinical implications, and ongoing research in this field, ultimately working towards better health outcomes.

Scientific Articles on PubMed

When it comes to chromosome 5, scientific articles on PubMed cover a wide range of topics related to cancer, eosinophils, and various genetic conditions. Here, we provide a brief overview of some critical articles available on this platform:

1. Eosinophilic leukemias and chromosomal changes

Eosinophilic leukemias are cancers of the blood characterized by an abnormal increase in eosinophil cells. Several articles on PubMed explore the genetic changes associated with these conditions, such as microdeletion of the purα gene or fusion with the ETV6 gene.

2. Chromosome 5 and the Cri-du-Chat syndrome

The Cri-du-Chat syndrome, also known as 5p- syndrome, is a developmental disorder caused by the loss of genetic material on chromosome 5. PubMed provides additional information on this syndrome and related conditions.

3. Chromosome 5 and central nervous system development

Researchers have discovered that chromosome 5 plays a crucial role in central nervous system development. Scientific articles on PubMed discuss various genetic conditions associated with abnormal development, such as Periventricular Nodular Heterotopia.

4. Chromosome 5 and PDGFRB-associated chronic eosinophilic leukemia

Some articles on PubMed focus on PDGFRB-associated chronic eosinophilic leukemia, a condition where the PDGFRB gene on chromosome 5 undergoes specific genetic changes. These articles provide insights into the working mechanisms of this type of leukemia.

5. Chromosome 5 and other cancers

Chromosome 5 abnormalities are also associated with other types of cancer, such as brain tumors and leukemia. PubMed offers scientific articles discussing the genetic and molecular aspects of these cancers and the role of chromosome 5 in their development.

These few examples of scientific articles on PubMed demonstrate the wealth of resources available for studying chromosome 5 and its impact on various health conditions. Whether you are interested in cancer research, genetic disorders, or developmental biology, PubMed provides a vast collection of articles to explore.


  • NIH article on Chromosome 5
  • Scientific article known as “Changes in eosinophils from chronic eosinophilic leukemia patients working in a sheep-farm”
  • Available information about Chromosome 5q deletion syndrome
  • Clinical and developmental characteristics of periventricular heterotopia associated with 5q deletion syndrome
  • Working on the fusion of material and 5q313 loss in eosinophils
  • Genes and proteins associated with Chromosome 5
  • PDGFRB-associated conditions and the role of Chromosome 5
  • Additional resources on Chromosome 5 and related conditions
  • Articles and studies on eosinophilic conditions and Chromosome 5 abnormalities
  • Information on the critical role of Chromosome 5 in brain development and function
  • Genetic analysis of Chromosome 5 and its impact on health, cancer, and other syndromes