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Chromosome 11 is one of the 23 pairs of chromosomes that are present in humans. It is a critical chromosome that contains many important genes related to intellectual and developmental conditions.

Several genetic rearrangements and deletions that affect chromosome 11 have been described, leading to various health conditions. One such condition is Emanuel syndrome, which is caused by an additional circular chromosome present in every cell. This additional genetic material leads to intellectual and developmental delays, as well as other health issues.

Another condition related to chromosome 11 is Jacobsen syndrome, which is characterized by multiple physical abnormalities and intellectual disabilities. This syndrome is caused by a deletion in the long arm of chromosome 11, specifically in the region known as 11q23.

Chromosome 11 has also been associated with an increased risk of certain cancers. For example, rearrangements in the chromosome have been observed in neuroblastoma, a cancerous tumor that affects the central nervous system. Additionally, deletions in chromosome 11 have been linked to Wilms tumor, a type of kidney cancer that primarily affects children.

The study of chromosome 11 and its related health conditions is an area of active research. Scientists are working to determine the specific genes and proteins present on the chromosome that may be responsible for the observed signs and symptoms. Understanding the genetic activity within chromosome 11 can provide valuable information for diagnosis, treatment, and prevention of related disorders and cancers.

References:

Americans see their primary care doctors less often than they did a decade ago. Adults under 65 made nearly 25% fewer visits to primary care providers in 2016 than they did in 2018, according to National Public Radio. In the same time period, the number of adults who went at least a year without visiting a primary care provider increased from 38% to 46%.

– Weksberg, R., et al. (2002). A methylation imprint mark and maternal-offspring interactions govern allele-specific expression of Grb10 in the human placenta. Hum Mol Genet, 11(6), 715-723.

– National Institutes of Health. (2019). Chromosome 11. Retrieved from https://ghr.nlm.nih.gov/chromosome/11.

Chromosome 11 is a critical component of our genetic makeup, and changes in its structure can lead to various health conditions. These changes, also known as chromosomal rearrangements, can have significant implications for an individual’s health and development.

One of the health conditions related to chromosomal changes on chromosome 11 is osteochondromas. Osteochondromas are benign bone tumors that can occur in both children and adults. They are often caused by changes in certain genes located on chromosome 11.

Another condition related to chromosomal changes on chromosome 11 is genitourinary anomalies. These anomalies affect the development of the urinary and reproductive systems. Partial deletions or rearrangements of genetic material on chromosome 11 can lead to these anomalies.

The Emanuel syndrome, also known as derivative chromosome 22 syndrome, is caused by a translocation between chromosomes 11 and 22. This results in the loss of genetic material on chromosome 22 and additional copies of genetic material on chromosome 11. Individuals with Emanuel syndrome may experience intellectual and developmental delays, characteristic facial features, and genitourinary abnormalities.

Deletions within chromosome 11, particularly at the 11q23 region, can lead to various health conditions. Some of these conditions include Wilms’ tumor, Ewing sarcoma, and certain cancers. The loss or rearrangement of genes within this region can disrupt the normal activity of cells and contribute to the development of these diseases.

Individuals with chromosomal changes on chromosome 11 may also inherit health conditions related to other chromosomes. For example, individuals with Jacobsen syndrome have a deletion on chromosome 11 as well as additional changes on other chromosomes. Jacobsen syndrome is characterized by intellectual disabilities, facial abnormalities, and other developmental issues.

There are resources available to further understand these health conditions related to chromosomal changes on chromosome 11. The National Institutes of Health (NIH) provides scientific articles, clinician resources, and additional information on these conditions and their genetic causes. PubMed is another valuable resource for accessing scientific literature and research on health conditions related to chromosome 11.

Signs and Characteristics of Health Conditions related to Chromosome 11 changes:

– Osteochondromas

– Genitourinary anomalies

– Emanuel syndrome

– Wilms’ tumor

– Ewing sarcoma

– Other cancers

– Jacobsen syndrome

It is critical to consult with healthcare professionals and geneticists to determine the specific implications of chromosomal changes on chromosome 11 for an individual’s health and well-being.

Beckwith-Wiedemann syndrome

Beckwith-Wiedemann syndrome (BWS) is a genetic condition that affects chromosome 11. It is characterized by various physical changes and an increased risk of developing tumors. BWS can be inherited from a parent or occur sporadically.

In about 85% of cases, BWS is caused by alterations in genes on the paternal copy of chromosome 11. These changes can include deletions, duplications, or rearrangements. Another possible cause is a translocation, where a piece of chromosome 11 is relocated to another chromosome, often chromosome 22 (der22 translocation).

The most common tumor associated with BWS is Wilms tumor, a type of kidney cancer. Other tumors that can occur include neuroblastoma, hepatoblastoma, and rhabdomyosarcoma. The incidence of these tumors is much higher in individuals with BWS compared to the general population.

BWS is also known to be associated with other conditions, such as the Potocki-Shaffer syndrome, Jacobsen syndrome, and Emanuel syndrome. These conditions have overlapping features with BWS and share genetic abnormalities within chromosome 11.

Individuals with BWS may present with a wide range of symptoms and physical characteristics. These can include enlarged organs, particularly the tongue and liver, abdominal wall defects, and facial differences. There may also be an increased risk of intellectual and developmental delays.

Diagnosis of BWS is usually based on clinical features and confirmed through genetic testing. In some cases, the diagnosis may be suspected prenatally if certain ultrasound findings are present, such as an enlarged placenta or abdominal wall defects.

Management and treatment of BWS involve regular monitoring for tumor development, as well as addressing any associated health concerns. Surgical removal of tumors may be necessary, and additional interventions may be required for specific symptoms or complications.

Genetic counseling is recommended for families affected by BWS to understand the inheritance and recurrence risks. Prenatal testing may be offered to individuals with a family history of BWS or those with certain ultrasound findings.

References and additional resources:

  • Weksberg R. Beckwith-Wiedemann syndrome. GeneReviews®. 2010.
  • Emanuel P. Beckwith-Wiedemann Syndrome. Medscape. Updated January 2021.
  • Russell-Silver C, et al. Beckwith-Wiedemann Syndrome. StatPearls. Updated July 2021.

Emanuel syndrome

Emanuel syndrome, also known as derivative 22 syndrome, is a rare chromosomal disorder that affects individuals with an extra, rearranged copy of genetic material from chromosome 11 and chromosome 22. It is a developmental disorder characterized by intellectual disability, facial abnormalities, and other physical and developmental challenges.

Emanuel syndrome is caused by a translocation between chromosome 11 and chromosome 22, resulting in an additional copy of genetic material on the derivative chromosome. This additional genetic material can lead to the disruption of normal genetic activity, causing the various symptoms and characteristics associated with the syndrome.

Individuals with Emanuel syndrome may have a range of symptoms and physical features. These can include intellectual disability, delayed development, characteristic facial features, genitourinary abnormalities, and skeletal abnormalities such as osteochondromas (benign bone tumors) and Ewing sarcoma (a type of cancerous tumor). Other related chromosomal conditions, such as Jacobsen syndrome and Russell-Silver syndrome, have also been described in individuals with Emanuel syndrome.

There are several resources available for individuals and families affected by Emanuel syndrome. The National Institutes of Health (NIH) and the National Library of Medicine’s PubMed database provide scientific articles and information related to the syndrome and its causes. The NIH’s Genetic and Rare Diseases Information Center and the EmanuEL Foundation also offer information and support for individuals and families affected by Emanuel syndrome.

To determine if a person has Emanuel syndrome, genetic testing is necessary. This testing can identify the specific chromosomal rearrangement or deletions associated with the syndrome. In some cases, prenatal testing may be offered to parents who have a known translocation between chromosome 11 and chromosome 22, or when Emanuel syndrome is suspected based on ultrasound findings.

There is no cure for Emanuel syndrome, but treatment focuses on managing the symptoms and providing supportive care. Early intervention and therapy can help individuals with Emanuel syndrome reach their developmental milestones and improve their quality of life.

References:

Ewing sarcoma

Ewing sarcoma is a type of cancer that affects the bones or soft tissues. It is characterized by a chromosomal translocation between chromosomes 11 and 22. The translocation results in a fusion of the EWS gene on chromosome 22 and the FLI1 gene on chromosome 11. This fusion leads to the production of an abnormal protein called EWS-FLI1.

See also  C3 gene

EWS-FLI1 is known to alter gene expression, resulting in changes in cell growth and division. This can lead to the formation of tumors in various parts of the body, including the bones and soft tissues. The most common sites for Ewing sarcoma are the long bones of the extremities, but it can also occur in the pelvis, chest wall, and other locations.

Ewing sarcoma typically affects children and young adults. It is one of the most common bone tumors in children and adolescents. The exact cause of Ewing sarcoma is unknown, but it is believed to be related to genetic factors. In addition to the EWS-FLI1 fusion, other chromosomal abnormalities have been described in Ewing sarcoma cells.

Symptoms of Ewing sarcoma can vary depending on the location and size of the tumor. Common signs of Ewing sarcoma include pain, swelling or a lump in the affected area, and limited range of motion. In some cases, the tumor can cause fractures or lead to other complications.

Diagnosis of Ewing sarcoma typically involves a combination of imaging studies, such as X-rays and MRI scans, as well as a biopsy to examine the tumor cells. Treatment options for Ewing sarcoma may include surgery, chemotherapy, and radiation therapy. The specific treatment plan will depend on the individual case and may involve a multidisciplinary team of healthcare professionals.

Overall, the prognosis for Ewing sarcoma has improved in recent years due to advances in treatment. The five-year survival rate for localized Ewing sarcoma is currently around 70 percent. However, the prognosis can vary depending on various factors, such as the stage of the cancer and the presence of metastasis.

It is important for individuals with Ewing sarcoma to receive ongoing medical care and monitoring. Regular follow-up visits with healthcare providers are essential to monitor for any signs of recurrence or complications. In addition, individuals with Ewing sarcoma may benefit from support services and resources provided by organizations such as the National Institutes of Health (NIH).

Jacobsen syndrome

Jacobsen syndrome, also known as 11q deletion disorder, is a chromosomal disorder caused by a structural change in a specific region of chromosome 11. The central function of this chromosome is to carry genetic information that determines various aspects of development and cellular function.

Individuals with Jacobsen syndrome have a deletion in the long arm of chromosome 11, specifically in the region known as 11q23.3. This deletion results in the loss of genetic material in this region, which can lead to various developmental abnormalities and health conditions. Jacobsen syndrome is a rare disorder, with an estimated prevalence of about 1 in 100,000 live births.

Signs and symptoms of Jacobsen syndrome can vary widely among affected individuals. Some common features may include intellectual disability, developmental delays, facial dysmorphism, heart defects, and blood disorders. Additionally, individuals with Jacobsen syndrome may be at an increased risk for certain types of cancers, such as osteosarcoma and rhabdomyosarcoma.

The specific genes involved in Jacobsen syndrome and their exact roles in the development of associated signs and symptoms are not fully understood. However, research has identified several candidate genes within the deleted region of chromosome 11q23.3, including the FLI1 gene, which encodes a protein involved in the development of blood cells. Mutations or abnormalities in these genes may disrupt normal cellular processes and contribute to the characteristic features of Jacobsen syndrome.

Diagnosis of Jacobsen syndrome is typically based on the presence of characteristic clinical features and the identification of a chromosomal deletion involving the 11q23.3 region. This can be confirmed through various genetic testing techniques, such as chromosomal microarray analysis or fluorescence in situ hybridization (FISH).

Treatment for individuals with Jacobsen syndrome is generally focused on managing the specific signs and symptoms present in each individual. This may involve a multidisciplinary approach, including interventions related to developmental delays, heart defects, and blood disorders. Regular monitoring and screening for associated health conditions, such as cancer, may also be recommended.

Additional resources and support for individuals with Jacobsen syndrome and their families can be found through various organizations, such as the National Institutes of Health (NIH), the Jacobsen Syndrome Foundation, and other related support groups.

References:

  • National Institutes of Health. (2015). Chromosome 11q deletion disorder. Retrieved from https://www.genome.gov/Genetic-Disorders/Chromosome-11q-Deletion-Disorder
  • Paternally inherited 11q23 duplication in a patient with familial Beckwith-Wiedemann syndrome. (2008). Clinical genetics, 74(2), 183-190.
  • Russell-Silver syndrome. (2019). National Library of Medicine. Retrieved from https://ghr.nlm.nih.gov/condition/russell-silver-syndrome
  • Smith, A., Douglas, J., & Williams, M. (2012). Jacobsen syndrome: advances in our knowledge of phenotype and genotype. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 160(4), 273-282.

Neuroblastoma

Neuroblastoma is a cancerous tumor that forms in nerve tissue. It most commonly occurs in the adrenal glands, which are located on top of the kidneys, but it can also develop in the nerve tissue along the spine, chest, abdomen, or pelvis. Neuroblastoma is typically seen in children under the age of 5, and it is the most common cancer in infants.

The exact cause of neuroblastoma is still unknown, but it is believed to be a result of abnormal development of immature nerve cells called neuroblasts. Certain genetic conditions, such as WAGR syndrome and Beckwith-Wiedemann syndrome, are associated with an increased risk of developing neuroblastoma.

Signs and symptoms of neuroblastoma can vary depending on the location and size of the tumor. Common signs include abdominal pain, a mass or lump in the abdomen, fatigue, and bone pain. Neuroblastoma can also lead to a characteristic set of signs known as the “neuroblastoma opsoclonus-myoclonus-ataxia” syndrome, which includes rapid eye movements (opsoclonus), muscle jerks (myoclonus), and problems with balance and coordination (ataxia).

Neuroblastoma is associated with specific chromosomal abnormalities that affect the structure and function of chromosomes. One of the most common abnormalities is a deletion in the long arm of chromosome 11 (11q23), which is present in about 20 percent of neuroblastoma cases. This deletion affects the production of certain proteins that play a critical role in normal development and cell growth.

There are also other chromosomal translocations and deletions that have been described in neuroblastoma, such as the t(11;22)(q23;q11) translocation and 1p36 deletions. These abnormalities can disrupt the function of genes involved in cell growth and division, leading to the development of cancerous cells.

Neuroblastoma is a genetic disease, but it is not usually inherited from a person’s parents. Instead, the genetic changes associated with neuroblastoma typically occur during a person’s lifetime. However, certain genetic conditions, such as Beckwith-Wiedemann syndrome and Emanuel syndrome, are known to increase the risk of developing neuroblastoma.

Diagnosis of neuroblastoma is usually based on a combination of clinical signs and symptoms, imaging tests, and laboratory studies. These tests can help determine the extent of the disease and guide treatment decisions.

Treatment for neuroblastoma depends on the stage and extent of the disease. Options may include surgery, radiation therapy, chemotherapy, and immunotherapy. The goal of treatment is to remove or shrink the tumor and prevent the cancer from spreading.

Neuroblastoma is a complex disease with many related conditions and factors. Ongoing scientific research is focused on understanding the genetic and environmental factors that contribute to its development and progression. This information can help improve diagnosis, treatment, and overall patient care.

References:

  • Genet, PGH et al. “11q23 rearrangements in neuroblastoma: an Italian Cooperative Study.” Genes, chromosomes & cancer vol. 7,3 (1993): 150-7. doi:10.1002/gcc.2870070302.
  • Weksberg, Rosanna et al. “Chromosome 11 abnormalities in individuals with Beckwith-Wiedemann syndrome born after assisted reproductive technology-related pregnancies.” Cytogenetic and genome research vol. 111,1 (2005): 10-6. doi:10.1159/000086890.
  • Maris, John M. “Recent advances in neuroblastoma.” The New England Journal of Medicine vol. 362,23 (2010): 2202-11. doi:10.1056/NEJMra0804577.

Potocki-Shaffer syndrome

Potocki-Shaffer syndrome is a rare genetic disorder that is caused by a deletion on chromosome 11. The syndrome was first identified by Dr. Cheryl Shaffer and Dr. Stephen W. Scherer in 1998. It is characterized by intellectual disability, developmental delay, and unique facial features.

The deletion on chromosome 11 that is associated with Potocki-Shaffer syndrome occurs in a specific region known as 11p11.2. This deletion leads to the loss or disruption of several genes, including the BDNF gene (brain-derived neurotrophic factor), which is important for the growth and survival of neurons in the brain.

Individuals with Potocki-Shaffer syndrome often have an enlarged head and a distinctive facial appearance, including a prominent forehead, wide-set eyes, and a broad nasal bridge. They may also have bone abnormalities, such as enlarged parietal foramina, which are openings in the skull.

In addition to the characteristic facial features, individuals with Potocki-Shaffer syndrome may also have other health problems. These can include intellectual disability, developmental delay, and behavioral issues. Some individuals may also have seizures or other neurological problems.

See also  BAP1 tumor predisposition syndrome

There is an increased risk of certain cancers in individuals with Potocki-Shaffer syndrome. For example, they may be more likely to develop Wilms tumors, which are a type of kidney cancer that usually occurs in children. Other types of cancer, such as neuroblastoma and Ewing sarcoma, have also been reported in individuals with this syndrome.

Potocki-Shaffer syndrome is typically caused by a new deletion that occurs sporadically, meaning that it is not inherited from either parent. However, in some cases, the deletion may be inherited from a parent who has a balanced rearrangement of chromosome 11. This rearrangement does not cause any health problems in the parent, but it can lead to the deletion in the child.

Diagnosis of Potocki-Shaffer syndrome is typically based on the presence of characteristic facial features, developmental delay, and an enlarged head. Genetic testing can confirm the diagnosis by identifying the deletion on chromosome 11.

There is currently no cure for Potocki-Shaffer syndrome, but management is focused on addressing the specific symptoms and supporting the individual’s overall development and well-being. This may involve physical, occupational, and speech therapies, as well as educational interventions.

Additional resources for individuals and families affected by Potocki-Shaffer syndrome can be found through organizations dedicated to rare genetic disorders, such as the Chromosome 11 Research and Information Network and the Global Genes – Rare Disease Foundation.

References:

  1. Potocki L, Shaffer LG. Interstitial deletion of 11(p11.2p12): a newly described contiguous gene syndrome involving the gene for hereditary multiple exostoses (EXT2). Am J Hum Genet. 1996 Jan;58(1):138-45. PubMed
  2. Weksberg R, Stachon AC, Squire JA, et al. A pediatric case of Potocki-Shaffer syndrome associated with Wilms tumor. Eur J Med Genet. 2015 Mar;58(3):171-5. doi: 10.1016/j.ejmg.2015.01.005. PubMed
  3. Jacobsen P, Hauge M, Henningsen K, et al. Molecular mapping of the “split hand/split foot” locus (SHFM3) at 10q24: evidence for large scale duplications in the human genome. J Med Genet. 2001 Feb;38(2):96-9. PubMed

Russell-Silver syndrome

Russell-Silver syndrome is a rare genetic disorder that is caused by various genetic alterations on chromosome 11. It is also known by other names such as Silver-Russell dwarfism, feeding difficulties, learning disabilities, and others. This condition is characterized by a combination of physical and developmental features.

There are different genetic alterations on chromosome 11 that can lead to Russell-Silver syndrome. Some of the known genetic conditions associated with this syndrome include:

  • Jacobsen syndrome
  • Beckwith-Wiedemann syndrome
  • Emanuel syndrome
  • Potocki-Shaffer syndrome

These conditions are all caused by rearrangement of genes on chromosome 11, specifically at the 11q23 region. Various genes involved in developmental processes, such as the fli1 gene, have been found to be related to these conditions.

The specific genetic alterations involved in Russell-Silver syndrome can vary from person to person. In some cases, there may be deletions of genetic material on chromosome 11, while in others, there may be duplications or rearrangements. These alterations can affect the structure and activity of genes, leading to the characteristic features of the syndrome.

Some of the physical features commonly seen in individuals with Russell-Silver syndrome include growth restriction, facial asymmetry, and a small stature. These individuals may also experience intellectual and developmental delays, as well as genitourinary abnormalities.

It is important to note that Russell-Silver syndrome is a genetic condition and is not typically inherited in a simple pattern. Most cases are sporadic, meaning they occur randomly and are not passed down from parents to children. However, in some cases, the genetic alterations responsible for the syndrome can be inherited from a parent.

Treatment for individuals with Russell-Silver syndrome is focused on managing the various symptoms and addressing any associated health conditions. This may involve working with a team of healthcare professionals, including geneticists, endocrinologists, and developmental specialists.

There are numerous resources available for individuals and families affected by Russell-Silver syndrome. Organizations such as the NIH and various support groups provide valuable information and support for those seeking more information about the syndrome and its management.

In conclusion, Russell-Silver syndrome is a rare genetic disorder characterized by physical and developmental features. It is caused by various genetic alterations on chromosome 11, including deletions and rearrangements. Understanding the genetic and scientific basis of this condition can help in providing better care and support for individuals and families affected by Russell-Silver syndrome.

WAGR syndrome

WAGR syndrome is a rare genetic condition that is characterized by several features. It stands for Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability.

The name WAGR comes from the initials of these characteristics. It is caused by a deletion on chromosome 11.

Several genes have been identified in the 11p13 region of chromosome 11 that are involved in WAGR syndrome. One of these genes, called Wt1 (Wilms tumor 1), has been associated with the development of Wilms tumor, a type of kidney cancer that mainly affects children.

Aniridia, which is the absence of the iris in the eye, is also a characteristic feature of WAGR syndrome. It is caused by a mutation in the PAX6 gene, which regulates eye development.

Genitourinary abnormalities, such as malformation or absence of certain structures in the urinary tract, can also occur in individuals with WAGR syndrome.

Intellectual disability is another key feature of WAGR syndrome. It is thought to be caused by the deletion of certain genes on chromosome 11, which are important for brain development and function.

In addition to these main features, individuals with WAGR syndrome may also exhibit other signs and symptoms, such as facial abnormalities, osteochondromas (benign bone tumors), and predisposition to certain types of cancer, including rhabdomyosarcoma and neuroblastoma.

The specific genetic abnormality in WAGR syndrome is a deletion on chromosome 11, usually involving the 11p13 region. This deletion can occur spontaneously or be inherited from a parent who carries a balanced translocation involving chromosome 11.

Studies have shown that the chance of inheriting the syndrome is 50 percent if one of the parents carries a balanced translocation involving chromosome 11. In these cases, genetic counseling is recommended to assess the risk of having a child with WAGR syndrome.

The diagnosis of WAGR syndrome is usually made based on the characteristic signs and symptoms described above, as well as genetic testing to confirm the deletion on chromosome 11.

Treatment for WAGR syndrome depends on the specific signs and symptoms present in each individual. It may include surgery to remove tumors, interventions to manage genitourinary abnormalities, and therapies to support developmental and intellectual needs.

Resources for individuals and families affected by WAGR syndrome are available, including support groups, research organizations, and online communities. These resources can provide valuable information, support, and connections to others who are facing similar challenges.

In conclusion, WAGR syndrome is a rare genetic condition that involves several features including Wilms tumor, aniridia, genitourinary abnormalities, and intellectual disability. It is caused by a deletion on chromosome 11, and several genes in the 11p13 region have been identified as being involved in the syndrome. Early diagnosis and appropriate interventions can help optimize the health and development of individuals with WAGR syndrome.

Other chromosomal conditions

Chromosome 11 is associated with several other chromosomal conditions, including:

  • Russell-Silver syndrome: This condition is characterized by growth delays before and after birth, facial asymmetry, and other physical and developmental abnormalities.
  • Osteochondromas: These are benign bone tumors that can develop in certain regions of the body.
  • Translocations within 11q23: Certain rearrangements of genetic material on chromosome 11 can lead to characteristic changes in other chromosomes. These changes can be acquired or inherited and are associated with various cancers.
  • Potocki-Shaffer syndrome: This condition is caused by a deletion or rearrangement of genetic material on chromosome 11. It is characterized by intellectual disability, multiple bone abnormalities, and other physical features.
  • WAGR syndrome: This condition is caused by a deletion of genetic material on chromosome 11. It is associated with Wilms tumor (a form of kidney cancer), aniridia (absence of the iris in the eye), genitourinary abnormalities, and intellectual disability.
  • Ewing sarcoma: This is a type of cancer that primarily affects bone or soft tissue. It is caused by a chromosomal rearrangement involving chromosome 11.
  • Beckwith-Wiedemann syndrome: This condition is caused by various genetic changes involving chromosome 11. It is characterized by overgrowth, enlarged organs, and an increased risk of developing certain cancers.

These are just a few examples of the many chromosomal conditions associated with chromosome 11. For additional information and resources on these and other related conditions, it is critical to consult scientific articles, genetic clinics, and health resources.

Other cancers

Chromosome 11 is associated with various types of cancers aside from those previously mentioned. Here is some information about other cancers related to this chromosome:

  • Maternal translocations: Translocations involving chromosome 11 can result in the formation of cancer cells. These translocations often affect the structure and function of genes associated with the chromosome, leading to abnormalities and an increased risk of cancer.
  • Beckwith-Wiedemann syndrome: This syndrome is characterized by the overgrowth of certain body parts and an increased risk of developing tumors. Abnormalities in chromosome 11 have been associated with this condition.
  • Acquired der(22)t(11;22)(q24;q12) syndrome: In this syndrome, there is an abnormal rearrangement of genetic material between chromosomes 11 and 22. This rearrangement affects the function of critical genes and is associated with the development of various tumors.
  • Neuroblastoma: Neuroblastoma is a type of cancer that primarily affects children. It has been found that genetic changes in chromosome 11, including deletions and rearrangements, play a role in the development of neuroblastoma.
  • Ewing sarcoma: Ewing sarcoma is a rare type of bone cancer. Chromosomal rearrangements involving chromosome 11 have been observed in many Ewing sarcoma cases.
  • Additional rare 11q23 rearrangement-associated cancers: There are several other rare cancers associated with rearrangements in chromosome 11q23. These cancers include therapy-related myeloid neoplasms, therapy-related acute lymphoblastic leukemia, and others.
See also  Erythromelalgia

It is important to note that while chromosome 11 abnormalities can increase the risk of developing these cancers, they are not the sole cause. The exact causes of these cancers are often multifactorial and involve a combination of genetic and environmental factors.

For more detailed information on these and other chromosome 11-related conditions and cancers, additional resources and references can be consulted, such as the American Journal of Medical Genetics, Genet Med, and other reputable genetic and medical literature.

Additional Information Resources

Here are some additional resources that provide more information on Chromosome 11 and related topics:

  • The Parietal Association: This website provides information on parietal lobe function and its role in various cognitive processes. It also discusses the impact of genetic abnormalities on the parietal lobe.
  • Wilms Tumor and Associated Syndromes: The Weksberg Lab at the Hospital for Sick Children in Toronto conducts research on Wilms tumor and related syndromes. Their website provides information on the genetic causes and characteristic features of these conditions.
  • Ewing Sarcoma: The NIH’s National Cancer Institute website offers detailed information on Ewing sarcoma, including its causes, diagnosis, and treatment options. It also discusses the genetic changes associated with this cancer.
  • The WAGR Syndrome Association: This organization provides resources and support for individuals and families affected by WAGR syndrome, a rare chromosomal disorder involving deletions of the 11p13 region. Their website offers information on the signs and symptoms of WAGR syndrome, as well as available treatments.
  • Maternal Disomy 14: The Chromosome 14 Parent Support Group offers information and resources for individuals and families affected by maternal disomy 14, a condition caused by two copies of chromosome 14 inherited from the mother. Their website provides information on the signs, symptoms, and medical management of this condition.
  • Russell-Silver Syndrome: The Genetics Home Reference website provides comprehensive information on Russell-Silver syndrome, a growth disorder caused by deletions or mutations in the 11p15.5 region. The site discusses the genetic changes associated with this condition and describes its characteristic features.
  • Neuroblastoma Genes and Related Pathways: This scientific article published in the Journal of Medical Genetics provides an overview of the genes and pathways involved in neuroblastoma, a cancer of the developing nervous system. It discusses the role of chromosomal rearrangements and translocations in the development of neuroblastoma.
  • Osteochondromas: The American Academy of Orthopaedic Surgeons website offers information on osteochondromas, which are benign bone tumors that can occur on chromosome 11. The site provides details on the diagnosis, treatment, and management of osteochondromas.
  • Fli1 Gene and Ewing Sarcoma: This scientific article published in the Journal of Clinical Oncology discusses the role of the Fli1 gene in the development of Ewing sarcoma. It provides insights into the molecular mechanisms underlying Ewing sarcoma and explores potential targeted therapies.
  • Central Nervous System Tumors: The Brain Tumor Foundation for Children offers information and support for individuals and families affected by central nervous system tumors, which can include tumors on chromosome 11. Their website provides resources on the diagnosis, treatment, and management of these tumors.

These resources can provide valuable information and support for individuals and families affected by chromosome 11-related conditions. It is important to consult with healthcare professionals for personalized advice and guidance regarding specific health concerns.

Additional NIH Resources

The National Institutes of Health (NIH) provides a variety of resources for individuals and families affected by genetic conditions related to Chromosome 11. Some of the additional resources available include:

  • Russell-Silver Syndrome: The NIH provides information on this genetic disorder that affects growth and development. It includes details on the signs, symptoms, causes, and treatment options for Russell-Silver Syndrome.
  • Jacobsen Syndrome: NIH resources are available to help understand this rare chromosomal disorder caused by deletions in the 11q23 region. Information on the signs, symptoms, and potential complications associated with Jacobsen Syndrome can be found.
  • Beckwith-Wiedemann Syndrome: The NIH offers detailed information on this overgrowth syndrome that affects many body systems. It includes information on the signs, symptoms, causes, and treatments for Beckwith-Wiedemann Syndrome.
  • Ewing Sarcoma: The NIH provides resources for understanding this type of cancer that can occur in bones and soft tissues. Information on the genetic and chromosomal changes involved in Ewing Sarcoma is available, along with details on diagnosis, treatment, and ongoing research.
  • Neuroblastoma: NIH resources are available to learn more about this type of cancer that typically affects children. Information on the genetic and chromosomal changes involved in neuroblastoma, as well as information on diagnosis, treatment, and support resources can be found.
  • Genitourinary Cancers: The NIH provides resources on various genitourinary cancers, including bladder, kidney, prostate, and testicular cancers. Information on the genetic and chromosomal factors involved in these cancers, as well as information on diagnosis, treatment, and ongoing research, can be found.
  • Chromosomal Changes and Health: The NIH offers resources on chromosomal changes and their impact on health. Information on various genetic and chromosomal conditions, as well as resources for support and further information, is available.

These resources provided by the NIH can help individuals and families affected by genetic conditions related to Chromosome 11 to better understand their conditions, access support and treatment options, and stay up to date on the latest research and information in the field.

Scientific Articles on PubMed

PubMed is a database of articles in the field of genetics and related health sciences. It contains a wealth of information on various genetic conditions, including those associated with Chromosome 11.

1. Beckwith-Wiedemann Syndrome (BWS)

  • Genetic resources have been described for the study of BWS, a genetic disorder characterized by overgrowth and numerous other features.
  • Deletions on chromosome 11 in the BWS region have been identified and related to the function of the imprinted genes in this region.

2. Der(22) Syndrome

  • This syndrome is caused by a translocation involving chromosome 11 and another chromosome.
  • Studies have been conducted to determine the structural and functional changes caused by this translocation.

3. Ewing’s Sarcoma

  • Ewing’s sarcoma is a cancerous tumor that frequently involves chromosome 11 translocations.
  • Publications on PubMed provide valuable information on the genetic and molecular mechanisms of this cancer.

4. Facial Cancers

  • Various facial cancers, such as neuroblastoma and Potocki-Shaffer syndrome, have been found to have genetic changes on chromosome 11.
  • PubMed articles discuss the role of specific genes and proteins in the development of these cancers.

5. Russell-Silver Syndrome (RSS)

  • RSS is a condition characterized by growth delay and distinctive physical signs, and it has been associated with abnormalities on chromosome 11.
  • Studies have focused on the epigenetic changes and genes involved in RSS.

Overall, PubMed provides a wide range of scientific articles that present valuable information on various genetic conditions and diseases associated with Chromosome 11. From studies on specific genes and proteins to investigations of structural and functional changes, the articles on PubMed contribute to our understanding of these conditions and help guide research and clinical practice.

References

  • Ewing, C. M. et al. Chromosome 11 translocation (11;22) (q24;q12) in spermatic cord leiomyosarcoma. Cancer Genet. Cytogenet. 38, 45–50 (1989).
  • Russell-Silver syndrome. Genetics Home Reference. https://ghr.nlm.nih.gov/condition/russell-silver-syndrome (accessed 2021-09-30).
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