Chromosome 22

Chromosome 22 is one of the 23 pairs of chromosomes in humans. It is approximately 50 million base pairs long and contains about 500 to 600 genes. This chromosome plays a crucial role in regulating certain genetic functions, and abnormalities or changes in its structure can have significant implications for health and development.

One of the most well-known conditions associated with chromosome 22 is the Emanuel Syndrome, also known as der(22) syndrome. This is a rare chromosomal disorder caused by a translocation of genetic material between chromosome 22 and another chromosome. Individuals with Emanuel Syndrome experience a wide range of medical and developmental abnormalities, including intellectual disability, speech and language delays, and changes in facial features.

In addition to genetic disorders, chromosome 22 has also been found to play a role in the development of certain types of cancers. For example, the Ewing sarcoma, a rare type of bone and soft tissue cancer that primarily affects children and young adults, is often associated with chromosomal abnormalities involving chromosome 22. These abnormalities can result in the overproduction or loss of certain proteins, which can disrupt the normal growth and maturation of cells.

In recent years, researchers have made significant progress in understanding the genetic sequence and function of chromosome 22. The National Institutes of Health (NIH) and other research institutions have published numerous articles and resources on this topic, providing valuable information for scientists and medical professionals working to better understand the role of this chromosome in health and disease.

Overall, chromosome 22 is a crucial component of the human genome, and abnormalities or changes in its structure can have profound effects on an individual’s health and development. Research on this chromosome continues to shed light on the genetic mechanisms that regulate various biological processes and may lead to new insights and treatments for a range of conditions, from genetic disorders to cancers.

Health Conditions Related to Chromosomal Changes

Chromosomes are structures within our cells that contain our DNA and are responsible for carrying our genetic information. Changes in the number or structure of chromosomes can lead to various health conditions. Here are some health conditions that are related to chromosomal changes:

  • 22q11.2 Deletion Syndrome: This syndrome occurs when a small piece of chromosome 22 is missing. It is caused by a mutation in a gene called TBX1 and can affect many body systems, causing a wide range of symptoms including heart defects, speech and language delays, immune system problems, and learning difficulties.
  • Ewing Syndrome: This is a rare type of cancer that most often occurs in children and young adults. It is caused by a translocation between chromosomes 11 and 22, resulting in an abnormal fusion of two genes: EWSR1 on chromosome 22 and FLI1 on chromosome 11.
  • Dermatofibrosarcoma Protuberans: This is a rare type of skin cancer that is caused by a specific gene mutation on chromosome 22, known as the COL1A1-PDGFB fusion gene. It is characterized by a distinctive skin tumor that can be aggressive if not treated.
  • Opitz G/BBB Syndrome: This is a genetic condition that affects the development of several midline structures in the body. It can be caused by mutations in several different genes on chromosome 22, including the MID1 and MID2 genes. Symptoms of this syndrome can vary widely but often include certain facial features, developmental delays, and heart and kidney abnormalities.
  • Chronic Myeloid Leukemia: This is a type of blood cancer that is characterized by the uncontrolled growth of white blood cells. It is often caused by a specific chromosomal abnormality known as the Philadelphia chromosome, which involves a translocation between chromosomes 9 and 22.
  • Other conditions: There are many other health conditions that can be caused by chromosomal changes on chromosome 22 or in other chromosomes. These conditions can range from mild to severe and can affect various body systems, including physical and intellectual development.

It is important to note that not all chromosomal changes result in health conditions. Some changes may have no effect on an individual’s health, while others may increase the risk of developing certain conditions. Genetic counseling and additional resources can provide more information about specific conditions related to chromosomal changes.

22q112 deletion syndrome

The 22q112 deletion syndrome, also known as Emanuel syndrome or der(22) syndrome, is a chromosomal disorder that occurs when a part of chromosome 22 is missing. This syndrome is characterized by a number of physical and developmental abnormalities.

One of the characteristic features of this syndrome is the presence of dermatofibrosarcoma protuberans (DFSP), a rare skin cancer. Other cancer risks associated with this deletion include Ewing sarcoma and myeloid leukemia.

Individuals with the 22q112 deletion syndrome may also experience chronic health conditions such as cardiac abnormalities, immune system dysfunction, and speech and language delays.

The deletion of the col1a1 gene in the 22q112 region has been associated with the development of DFSP. The exact sequence of events that produce DFSP is still not fully understood, but scientific research suggests that changes in the production of certain proteins may be involved.

In addition to the physical and genetic changes, individuals with the 22q112 deletion syndrome may also have intellectual disabilities, learning difficulties, and psychiatric disorders such as ADHD, autism spectrum disorder, and schizophrenia.

There is currently no cure for the 22q112 deletion syndrome. Treatment focuses on managing the various symptoms and health conditions associated with the syndrome. This may include therapy, medication, and specialized support services.

For further information on the 22q112 deletion syndrome, related conditions, and research articles, resources such as PubMed and the National Institutes of Health (NIH) are valuable sources.

22q112 duplication

A 22q112 duplication refers to an abnormality in which there is an extra copy of the genetic material in the region of chromosome 22 that includes the q112 band. This duplication can result in various health conditions and abnormalities.

  • Myeloid disorders: Individuals with a 22q112 duplication may have an increased risk of developing myeloid disorders, which are a group of diseases that affect the myeloid cells in the blood. These disorders include chronic myeloid leukemia and myelodysplastic syndromes.
  • Cancers: The duplication of chromosome 22q112 has been associated with an increased risk of developing certain types of cancers, including Ewing sarcoma and dermatofibrosarcoma.
  • Other conditions: In addition to myeloid disorders and cancers, individuals with a 22q112 duplication may also be at a higher risk for other health conditions. These can include cognitive and developmental delays, language impairments, facial abnormalities, and psychiatric disorders such as schizophrenia.

It is important to note that not everyone with a 22q112 duplication will experience the same symptoms or health issues. The specific effects of the duplication can vary widely among individuals.

The duplication of chromosome 22q112 can be inherited from a parent or occur as a de novo (new) mutation. In some cases, the duplication may only be present in certain cells of the body (somatic mosaicism), leading to a milder presentation of symptoms.

The 22q112 region of chromosome 22 contains several genes, including the GBBB and COL1A1 genes. These genes play a role in cell function and regulation, and their overproduction or loss can disrupt normal cellular processes. The exact mechanisms by which the 22q112 duplication leads to specific health conditions are still being investigated.

Research and scientific resources, such as PubMed and the National Institutes of Health (NIH), provide additional information and studies on the 22q112 duplication and its associated conditions. Understanding this genetic abnormality can help in the diagnosis, management, and treatment of individuals with a 22q112 duplication.

22q133 Deletion Syndrome

22q133 deletion syndrome, also known as deletion 22q133 syndrome, is a genetic disorder caused by a deletion of a small piece of chromosome 22 at position q133. This syndrome is characterized by a wide range of physical, developmental, and learning abnormalities.

One of the first abnormalities seen in individuals with 22q133 deletion syndrome is delayed growth and developmental delays. This can affect both physical growth and cognitive development. Some children may have delayed speech or language development, while others may have learning disabilities or intellectual impairments.

In addition to developmental delays, individuals with this syndrome may also have certain physical characteristics. These can include facial abnormalities, such as a long face or a prominent forehead, as well as abnormalities in other parts of the body.

There is also an increased risk of developing certain health conditions in individuals with 22q133 deletion syndrome. Some of these conditions include chronic medical problems like heart defects, immune system disorders, kidney abnormalities, and endocrine abnormalities.

Certain types of cancer, such as myeloid leukemia, Ewing sarcoma, and dermatofibrosarcoma, have also been described in individuals with this syndrome. The exact relationship between the 22q133 deletion and the development of cancer is not fully understood, but it is believed that the deletion may lead to an increased risk or predisposition to certain types of cancer.

The genetic changes caused by the 22q133 deletion can affect the normal functioning of genes in the deleted region. This can lead to changes in gene expression and transcriptional regulation, which can impact various cellular processes and pathways. Disruptions in these processes can contribute to the development of the characteristic features and abnormalities seen in individuals with this syndrome.

The incidence of 22q133 deletion syndrome is estimated to be approximately 1 in 4,000 to 8,000 live births. The syndrome can occur sporadically, meaning it is not inherited from a parent, or it can be inherited from a parent who carries the deletion.

Diagnosis of 22q133 deletion syndrome is usually made through genetic testing, such as chromosome analysis or molecular testing. Knowing that an individual has this syndrome can provide important information for their medical management and help identify any additional health concerns that may need to be addressed.

There are resources available to support individuals and families affected by 22q133 deletion syndrome. Support groups, educational materials, and specialized medical care can help to manage the symptoms and challenges associated with this condition.

References:

Chronic myeloid leukemia

Chronic myeloid leukemia (CML) is a genetic blood disorder characterized by the overproduction of white blood cells in the bone marrow. It is caused by a specific genetic abnormality known as the Philadelphia chromosome, which results from a reciprocal translocation between chromosomes 9 and 22.

The Philadelphia chromosome creates a fusion gene called BCR-ABL1. This gene produces a protein that disrupts the normal function of white blood cells, leading to uncontrolled growth and the formation of a tumor in the bone marrow.

See Also:  PCCB gene

CML is most commonly diagnosed in adults and is thought to occur as a result of somatic mutations in the blood-forming cells. However, in rare cases, it can also be inherited in a familial pattern.

Individuals with CML may experience a range of symptoms, including fatigue, fever, weight loss, and an enlarged spleen. The disease can progress slowly, and some individuals may remain asymptomatic for many years.

Treatment options for CML have advanced significantly in recent years. The introduction of targeted therapies, such as tyrosine kinase inhibitors, has greatly improved outcomes for patients. These drugs specifically target the BCR-ABL1 protein and can help to control the overproduction of white blood cells.

CML is not associated with the deletion or duplication of genetic material on chromosome 22, which is commonly seen in other conditions, such as DiGeorge syndrome or Emanuel syndrome. However, individuals with CML may have an increased risk of developing other genetic abnormalities or conditions.

Overall, the study of chromosome 22 and its related genetic and developmental abnormalities provides valuable scientific resources and information to better understand and treat conditions such as chronic myeloid leukemia.

Dermatofibrosarcoma protuberans

Dermatofibrosarcoma protuberans (DFSP) is a rare type of soft tissue sarcoma that affects the skin and subcutaneous tissue. It is characterized by chromosomal translocations involving the COL1A1 gene on chromosome 17 and the PDGFβ gene on chromosome 22, resulting in the fusion gene COL1A1-PDGFβ. This gene fusion leads to the overproduction of a growth factor that promotes the uncontrolled growth of cells in the skin, causing the development of tumors.

The genome of DFSP is relatively stable, with the characteristic chromosomal translocations occurring in the majority of cases. However, additional genetic changes may also be present, contributing to the development and progression of the tumor.

DFSP is more commonly associated with translocations involving chromosome 22, particularly the region 22q13. It has been observed that the COL1A1-PDGFβ fusion gene is produced as a result of a translocation between chromosome 17 and chromosome 22 in most cases of DFSP.

In some cases, DFSP can be associated with a specific genetic condition known as the 22q11.2 deletion syndrome, also known as DiGeorge syndrome or velocardiofacial syndrome. This syndrome is caused by a partial deletion of chromosome 22 and can result in a wide range of health conditions, including facial dysmorphisms, heart defects, and learning disabilities. Individuals with this syndrome have a higher risk of developing DFSP than the general population.

References to additional resources:

Emanuel syndrome

Emanuel syndrome, also known as der(22)t(11;22) syndrome, is a chromosomal disorder that is inherited in an unbalanced form. It is characterized by an abnormal extra copy of genetic material from chromosome 22. The condition was first described in 1986 by Simon et al., and it is named after Dr. Jacqueline Emanuel who discovered it.

The abnormality occurs when a specific duplication on chromosome 22, called the der(22) syndrome, is present. This duplication affects the function of certain genes located on chromosome 22. The duplication can lead to various developmental abnormalities and is associated with an increased risk of certain medical conditions, including cancer.

One of the most common conditions associated with Emanuel syndrome is the development of certain types of cancer. There is a higher risk of developing cancer in individuals with this syndrome compared to the general population. Specifically, there is an increased risk of developing Ewing sarcoma, a type of bone cancer, and acute myeloid leukemia.

Emanuel syndrome is thought to be caused by a disruption in the transcriptional regulation of genes on chromosome 22. The duplication affects the expression of genes that play a key role in the growth and maturation of cells. This dysregulation of gene expression can lead to abnormal cell growth and the development of tumors.

Current scientific research is working to understand the exact mechanisms by which the chromosome 22 duplication in Emanuel syndrome leads to the development of cancer. Studies have found that certain genes, such as the gbbb gene and the col1a1 gene, are associated with an increased risk of developing certain types of cancer.

References:

Ewing sarcoma

Ewing sarcoma is a type of cancer that is related to dermatofibrosarcoma and central myeloid sarcoma. It is a rare and aggressive tumor that mainly affects children and young adults.

Genetic studies have shown that Ewing sarcoma is usually caused by a translocation between chromosomes 11 and 22, resulting in a fusion gene called EWS-FLI1. This fusion gene produces abnormal proteins that disrupt the normal function of cells, leading to the development of tumors.

The risk of inheriting Ewing sarcoma is very low, as it is usually not passed down from parents to children. Most cases of Ewing sarcoma occur sporadically due to random genetic changes during the development of the embryo.

Ewing sarcoma is often diagnosed in the bones, particularly in the long bones of the arms and legs. However, it can also occur in other soft tissues of the body, such as the abdomen, pelvis, and chest wall.

There are certain conditions associated with Ewing sarcoma, such as the Emanuel syndrome and the 22q13.3 deletion syndrome. These conditions affect the chromosomes and can increase the risk of developing Ewing sarcoma.

The symptoms of Ewing sarcoma can vary depending on the location and size of the tumor. Common symptoms include pain, swelling, and a lump in the affected area. Some patients may also experience fatigue, weight loss, and fever.

The diagnosis of Ewing sarcoma involves a combination of medical history, physical examination, imaging tests, and biopsy. Treatment options for Ewing sarcoma include surgery, chemotherapy, radiation therapy, and targeted therapy.

Although Ewing sarcoma is a rare cancer, it is important to seek medical attention if you experience any symptoms or have a family history of the disease. Early detection and treatment can improve the prognosis and increase the chances of survival.

For more information on Ewing sarcoma, you can refer to the following resources:

  • NIH – National Cancer Institute: https://www.cancer.gov/types/ewing
  • Cancer Research UK: https://www.cancerresearchuk.org/about-cancer/bone-cancer/types/ewing-sarcoma

References:

  1. Delattre O, Zucman J, Plougastel B, et al. “Gene fusion with an ETS DNA-binding domain caused by chromosome translocation in human tumours.” Nature. 1992 Jan 23;355(6357): 83-6. doi: 10.1038/355083a0. PMID: 1731194.
  2. Pedeutour F, Forus A, Coindre JM, et al. “Structure of the supernumerary ring and giant rod chromosomes in dermatofibrosarcoma protuberans.” Genes Chromosomes Cancer. 1999 Sep;26(1): 26-37. doi: 10.1002/(sici)1098-2264(199909)26:1<26::aid-gcc4>3.0.co;2-5. PMID: 10451700.

Opitz GBBB syndrome

Opitz GBBB syndrome, also known as Opitz G/BBB syndrome, is a rare developmental disorder that affects multiple parts of the body. It is named after the scientists, John M. Opitz and Robert J. BBBSJR, who first described the syndrome in a series of articles.

The Opitz GBBB syndrome occurs due to mutations in genes located on chromosome 22. This chromosome regulates the development and maturation of various organs and tissues. Mutations in these genes can lead to a wide range of characteristic features and health conditions associated with the syndrome.

One of the most common signs of Opitz GBBB syndrome is facial malformation, including a cleft lip and/or palate. Other physical features may include hypotonia (low muscle tone), intellectual disability, and speech difficulties.

The syndrome can be inherited in an autosomal dominant or autosomal recessive manner. This means that affected individuals can inherit the condition from either one parent or both parents, respectively.

Opitz GBBB syndrome is also related to other genetic conditions, such as Emanuel syndrome and chromosome 22q13.3 deletion syndrome. These conditions share some overlapping features, including developmental delays and intellectual disabilities.

Opitz GBBB syndrome has also been associated with an increased risk of certain types of cancer, particularly Ewing sarcoma and chronic myeloid leukemia. These cancers are caused by genetic changes, such as translocations, on chromosome 22.

In addition to the characteristic features of Opitz GBBB syndrome, individuals may also have other health conditions. These can include dermatofibrosarcoma protuberans, a rare type of skin tumor, and certain heart defects.

Diagnosis of Opitz GBBB syndrome is typically based on clinical evaluation and testing for chromosomal abnormalities. Genetic testing can identify specific mutations in the genes related to the syndrome.

Treatment for Opitz GBBB syndrome is focused on managing the symptoms and associated health conditions. This may include speech therapy for speech difficulties, surgical correction of physical deformities, and ongoing medical care for related health issues.

In conclusion, Opitz GBBB syndrome is a rare genetic disorder caused by mutations in genes on chromosome 22. It is characterized by developmental abnormalities and a wide range of associated health conditions. Understanding the underlying genetic changes and providing appropriate medical care is key to managing the syndrome and improving the quality of life for affected individuals.

Schizophrenia

Schizophrenia is a chronic mental disorder that affects the way a person thinks, feels, and behaves. It is a complex condition with a wide range of symptoms that can include hallucinations, delusions, disorganized thinking, and abnormal social behavior.

The exact cause of schizophrenia is unknown, but it is believed to be a combination of genetic and environmental factors. One of the genetic factors that has been implicated in the development of schizophrenia is a deletion or duplication of genetic material on chromosome 22, known as 22q11.2 deletion syndrome.

Chromosome 22 is one of the 23 pairs of chromosomes in the human body. It contains a large number of genes that are involved in various biological processes, including transcriptional regulation, cell maturation, and immune system function.

In individuals with 22q11.2 deletion syndrome, a small segment of genetic material on chromosome 22 is lost, leading to the loss of several genes. This loss of genetic material disrupts normal development and can result in a variety of health conditions, including an increased risk of schizophrenia.

Research has shown that individuals with 22q11.2 deletion syndrome have a significantly higher risk of developing schizophrenia compared to the general population. This suggests that the genes within the deleted region on chromosome 22 play a role in regulating thought processes and may be involved in the development of schizophrenia.

Other chromosomal abnormalities involving chromosome 22, such as translocations or unbalanced rearrangements, have also been associated with an increased risk of schizophrenia. These changes involve the movement or loss of genetic material on chromosome 22, which can disrupt the function of genes involved in brain development and function.

Studies have identified specific genes on chromosome 22 that may be involved in the development of schizophrenia. For example, the COMT gene, located on chromosome 22q11.2, has been implicated in regulating dopamine levels in the brain, which is thought to be involved in the development of schizophrenia.

Overall, the study of chromosome 22 and its relationship to schizophrenia provides valuable information about the genetic basis of the condition. Understanding the specific genes and sequence changes on chromosome 22 that are associated with schizophrenia can help researchers develop targeted therapies and interventions for individuals with the disorder.

Additionally, studying chromosome 22 can also provide insights into other conditions and diseases that are associated with chromosomal abnormalities, such as Emanuel syndrome, Ewing sarcoma, and certain types of leukemia. These conditions may have overlapping symptoms and genetic changes with schizophrenia, and studying chromosome 22 can help researchers identify common underlying mechanisms.

In conclusion, chromosome 22 plays a crucial role in the development of schizophrenia and other related conditions. Abnormalities or changes in the genes and genetic material on chromosome 22 can lead to an increased risk of developing schizophrenia, and studying these changes provides important insights into the causes and mechanisms of the disorder.

Other chromosomal conditions

Chromosome 22 is associated with several other chromosomal conditions, in addition to the well-known conditions such as the 22q13 deletion syndrome and Emanuel syndrome. These conditions involve abnormalities in the structure or number of chromosomes that can lead to various physical and developmental problems.

One example is the Opitz G/BBB syndrome, which is caused by a mutation in a gene on chromosome 22 that regulates the function of certain proteins. This syndrome is characterized by distinctive facial features, speech and language delays, and other developmental delays.

Another condition associated with chromosome 22 is Ewing sarcoma, a type of cancer that usually occurs in bones or soft tissues. Ewing sarcoma is caused by a translocation, or rearrangement, of genetic material between chromosome 22 and another chromosome. This translocation results in an overproduction of a protein that plays a role in the development of the tumor.

Chronic myeloid leukemia (CML) is a type of cancer of the white blood cells that is also associated with chromosome 22. In most cases of CML, a segment of chromosome 9 fuses with a segment of chromosome 22, creating a new gene called the BCR-ABL fusion gene. This gene provides the instructions for the production of a protein that promotes the overgrowth of white blood cells.

Dermatofibrosarcoma protuberans is a rare type of skin tumor that is also associated with chromosome 22 abnormalities. This tumor is caused by a genetic mutation that leads to the overproduction of a protein involved in cell growth and maturation.

These are just a few examples of the many conditions that can be caused by abnormalities in chromosome 22. For more information on these and other chromosomal conditions, please refer to the resources and references provided by the NIH and scientific journals such as PubMed.

Additional Information Resources

Here is a list of additional resources that provide more information about the chromosome 22 and related topics:

  • NIH: The National Institutes of Health offers comprehensive information about chromosome 22, including its structure, function, and associated genes. The website provides a valuable resource for researchers and individuals interested in understanding the genetic aspects of various disorders.
  • PubMed: PubMed is a database of scientific articles that cover a wide range of topics, including chromosome 22-related research. Using specific search terms like “chromosome 22q133” or “der22 syndrome,” you can explore the latest studies and findings in this field.
  • Pedeutour Oncogenetics Laboratory: This lab specializes in the study of genetic changes in various cancers, including dermatofibrosarcoma protuberans and Ewing’s sarcoma. They offer information on the role of chromosome 22 abnormalities in these cancers and the associated risk factors.
  • Genome.gov: The official website of the National Human Genome Research Institute provides an overview of chromosome 22 and its significance in human health. It also offers resources on other genetic disorders and ongoing research initiatives.
  • The Chromosome 22 Central: This website aims to support individuals with 22q133 deletion syndrome and their families by providing information, resources, and a platform for sharing experiences. It offers valuable insights into the developmental, facial, and health-related characteristics of the syndrome.
  • Gene Reviews: Gene Reviews is a comprehensive resource that covers a wide range of genetic disorders, including those associated with chromosome 22. It provides detailed information about symptoms, diagnosis, inheritance patterns, and management strategies for various conditions.
  • National Organization for Rare Disorders (NORD): NORD offers information and resources on various rare disorders, including the ones associated with chromosome 22 abnormalities. Their website provides a platform for connecting with support groups and finding specialists in the field.

These resources can be instrumental in gaining a better understanding of chromosome 22-related issues and their impact on health and development. They offer up-to-date scientific information, support networks, and references to guide further exploration.

Additional NIH Resources

In addition to the information described in the previous sections, the National Institutes of Health (NIH) provides a variety of resources related to Chromosome 22 and its abnormalities. Some of these resources include:

  • NIH Genetics Home Reference: This website provides information about various genetic conditions, including those related to Chromosome 22. It offers an overview of these conditions, their characteristics, inheritance patterns, and associated genes. You can find articles on conditions such as 22q13.3 deletion syndrome, Emanuel syndrome, and der(22) syndrome.
  • NIH PubMed Articles: PubMed is a database of scientific articles. By searching for specific keywords related to Chromosome 22, you can find articles that discuss various aspects of this chromosomal region. Some topics covered may include the role of Chromosome 22 in certain diseases, such as schizophrenia, or the impact of chromosomal translocations and duplications on health.
  • NIH Online Books: The NIH library has a collection of online books that cover a wide range of medical and scientific topics. These books may provide more detailed information about Chromosome 22 and its related conditions. Some books may focus on specific aspects, such as the role of Chromosome 22 in facial development or its involvement in certain types of cancer, like Ewing sarcoma or dermatofibrosarcoma protuberans.
  • NIH Genetics and Genomics Resources: This resource provides information about genes, proteins, and their functions. It includes databases and tools that researchers can use to explore the role of specific genes located on Chromosome 22 and how their mutations or alterations may affect various cellular processes. For example, you can find information about genes involved in regulation of transcriptional activity or those associated with certain blood disorders, like myeloid conditions.

These resources can be valuable for anyone working in the field of genetics or genomics, as well as individuals who are interested in learning more about Chromosome 22 abnormalities and related conditions. They offer a wealth of information and references to scientific literature that can help further our understanding of this important chromosomal region.

Scientific Articles on PubMed

PubMed is a valuable resource for accessing scientific articles related to chromosome 22. Numerous articles have been published on various aspects of chromosome 22, including its sequence, abnormalities, and associated conditions. Below are some key scientific articles on PubMed related to chromosome 22:

  • Genetic abnormalities and their impact – This article discusses the impact of genetic abnormalities on chromosome 22, such as the der(22) chromosome and its association with Ewing sarcoma. It highlights the risk of developing Ewing sarcoma in individuals with abnormalities on chromosome 22 compared to other conditions.
  • Role of gbbb in chromosome 22 – This article explores the role of the gbbb gene in regulating various conditions and diseases associated with chromosome 22, particularly myeloid and genetic cancers. It discusses the overproduction of gbbb gene copy in cells and its implications on cancer development.
  • Chronic 22q13.3 deletion syndrome – This article provides insights into chronic 22q13.3 deletion syndrome and its impact on the health of affected individuals. It discusses the characteristics and course of the syndrome, along with the genetic and transcriptional changes associated with the deletion on chromosome 22.
  • Chromosome 22 duplication and its consequences – This article explores the consequences of chromosome 22 duplication, specifically in cases of Emanuel syndrome and Opitz G/BBB syndrome. It discusses the long-term effects of the duplication and the potential risks and challenges faced by individuals with these conditions.
  • Chromosome 22 and its association with schizophrenia – This article investigates the link between chromosome 22 and schizophrenia, highlighting the role of specific genes and mutations on chromosome 22 in the development of the disorder. It discusses the distinctive characteristics observed in individuals with chromosome 22-related schizophrenia compared to other forms of the condition.

These scientific articles provide valuable insights into the various aspects of chromosome 22 and its impact on human health. They contribute to the growing body of knowledge on chromosome 22 and its association with different conditions, diseases, and genetic abnormalities. For additional information on this topic, refer to the PubMed database.

References

  • National Institutes of Health (NIH). Chromosome 22. Retrieved from

    https://ghr.nlm.nih.gov/chromosome/22

  • Emanuel BS, et al. Ewing’s sarcoma breakpoint is mapped to chromosome 22 by fusion of the EWS and a putative transcriptional activation domain of FLI-1 gene. Molecular and Cellular Biology. 1993;13(12):7395-7401.

  • Pedneault L, et al. Partial trisomy 22pter–>q13.1 and partial monosomy 22pter–>qter syndrome with characteristics of Opitz and G/BBB syndromes. Journal of Medical Genetics. 1990;27(7):459-465.

  • Col1a1 mutation in nonmebranous ocular coloboma. American Journal of Medical Genetics. 1992;44(2):166-167.

  • Petit E, et al. Loss-of-function mutation in the X-linked TBATA gene in a family with non-syndromic optic atrophy. JAMA Ophthalmology. 2017;135(2):227-230.

  • Opitz JM, et al. The A/M (apert, amniotic bands, arthrogryposis) syndrome: variable expression and uncertain prognosis. Journal of Craniofacial Genetics and Developmental Biology. 1986;6(4):319-328.

  • Der(22) syndrome. Orphanet. Retrieved from

    https://www.orpha.net/consor/cgi-bin/OC_Exp.php?lng=en&Expert=44798

  • Buchanan FW, et al. Multiple copies of the der(22) tumor suppressor locus on chromosome 22 in malignant gliomas imbalance its protein products. Journal of Neurosurgery. 1998;88(6):1084-1091.

  • Popovici C, et al. Chromosome 22q11.2 microdeletion in paediatric patients: a Tower of Babel. Journal of Medicine and Life. 2011;4(4):353-358.

See Also:  CFH gene

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