Chromosome 17

Chromosome 17 is one of the 23 pairs of human chromosomes. It is classified as a submetacentric chromosome, meaning that its centromere is not located in the middle. This chromosome contains around 2.5 percent of the genetic materials in our cells. Within chromosome 17, there are various regions that have been extensively studied and found to be associated with important genes and disorders.

One of the key regions on chromosome 17 is the 17q21.31 region, which is known to contain several genes. One of these genes, designated as LHX1, is responsible for producing a protein that plays a crucial role in the development of the central nervous system. Mutations or deletions in this gene have been linked to various disorders, including Charcot-Marie-Tooth disease, a condition characterized by muscle weakness and sensory changes.

Another noteworthy region on chromosome 17 is the 17q12 region, which has been associated with several genetic conditions. One of these conditions is Smith-Magenis syndrome, a disorder characterized by intellectual disability, sleep disturbances, and distinctive facial features. This region has also been linked to Koolen-de Vries syndrome, Miller-Dieker syndrome, and other disorders. Changes in the 17q12 region, such as duplications or deletions, can have a significant influence on the functions of the genes within this segment.

Furthermore, chromosome 17 is also known to harbor genes that are involved in the development and progression of various cancers. For example, the TP53 gene, located on the short arm of chromosome 17, is a tumor suppressor gene that plays a critical role in preventing the formation of cancerous cells. Mutations in this gene are associated with an increased risk of several cancers, including breast, colon, and lung cancers. Additionally, other genes on chromosome 17, such as BRCA1 and ERBB2, have also been implicated in cancer development.

In conclusion, chromosome 17 plays a significant role in human health and disease. Changes in this chromosome, such as duplications, deletions, or mutations in specific genes, can lead to various genetic disorders and increase the risk of developing certain cancers. Scientific resources, such as the National Institutes of Health (NIH), provide valuable information and research on chromosome 17 and its associated conditions, contributing to a better understanding of human genetics and potential therapeutic strategies.

Health Conditions Related to Chromosomal Changes

Chromosome 17 is a central chromosome that plays a significant role in various health conditions. Changes in chromosome 17, such as duplications or deletions, can lead to the development of certain disorders and syndromes. Here are some of the health conditions related to chromosomal changes in chromosome 17:

• 17q12 duplication syndrome: This condition is caused by the additional copy of the 17q12 region of chromosome 17. It is associated with developmental delays, intellectual disability, and certain physical features like a prominent forehead, wide-set eyes, and flat feet.
• Potocki-Lupski syndrome: It is a condition caused by a duplication of the 17p11.2 region of chromosome 17. It is characterized by intellectual disability, autism spectrum disorder, and certain physical features like a long face and tall stature.
• Miller-Dieker syndrome: This syndrome is caused by a deletion of a major portion of chromosome 17. It leads to severe developmental delays, intellectual disability, and certain physical features like a smooth, flat face, and a small head size.
• Koolen-de Vries syndrome: It is caused by a deletion in the 17q21.31 region of chromosome 17. This syndrome is associated with developmental delays, intellectual disability, and certain physical features like distinct facial characteristics and cardiac defects.
• Dermatofibrosarcoma protuberans: This is a rare, slow-growing cancer of the skin and soft tissues. It is caused by a specific genetic change called a translocation, which involves a fusion of genes from chromosome 17 and another chromosome.
• Acute promyelocytic leukemia (APL): APL is a subtype of acute myeloid leukemia. It is associated with a specific chromosomal translocation involving genes on chromosome 17 and chromosome 15. This translocation leads to the fusion gene PML-RARA, which plays a major role in the development of APL.

The exact functions of each gene on chromosome 17 and their influence on these health conditions are still not fully understood. However, ongoing research continues to shed light on the role of chromosome 17 in various developmental and sensory functions.

For more information about these health conditions related to chromosomal changes in chromosome 17, additional resources and references can be found through medical research and support organizations dedicated to understanding and treating these disorders.

17q12 deletion syndrome

The 17q12 deletion syndrome is a genetic abnormality that affects the long arm of chromosome 17. It is caused by the deletion of a region on chromosome 17 at position q12. This syndrome is associated with various developmental conditions and can lead to intellectual disabilities, health issues, and other medical conditions.

Individuals with the 17q12 deletion syndrome may have signs and symptoms that vary widely. Some commonly observed features include facial abnormalities, weak muscle tone, abnormalities in the feet, and intellectual disabilities. Other conditions such as Miller-Dieker syndrome and Smith-Magenis syndrome have also been found to be associated with this genetic abnormality.

Research into the 17q12 deletion syndrome is ongoing, and scientists are trying to understand the underlying causes and mechanisms of this condition. It is known that the loss of genetic material in this region leads to the deletion syndrome. However, the precise function of the genes in this region is still not fully understood.

The 17q12 deletion syndrome can be inherited from a parent or can occur as a new genetic change. In some cases, the deletion is present in somatic cells, which are non-reproductive cells, and does not affect the entire body. In other cases, the deletion is present in germ cells, which are involved in reproduction, and can be passed on to future generations.

Although the 17q12 deletion syndrome is a rare genetic condition, it has been found to be more prevalent than previously thought. Recent studies estimate that this syndrome occurs in approximately 1 in 14,000 to 1 in 100,000 individuals. It is believed that the actual prevalence may be even higher, as some individuals with milder symptoms may go undiagnosed.

Medical professionals and researchers recommend genetic testing for individuals who exhibit signs and symptoms of the 17q12 deletion syndrome. This can help diagnose the condition and provide information about potential health conditions associated with this genetic abnormality. Regular check-ups and appropriate medical management can help individuals with this syndrome lead healthier lives.

Key facts about 17q12 deletion syndrome:

• Caused by the deletion of a region on chromosome 17 at position q12
• Affects developmental conditions, intellectual function, and overall health
• Associated with facial abnormalities, weak muscle tone, and intellectual disabilities
• May be inherited or occur as a new genetic change
• Prevalence estimated to be approximately 1 in 14,000 to 1 in 100,000 individuals
• Genetic testing is recommended for diagnosis and management

Further scientific research is needed to gain a better understanding of the aspects and mechanisms of the 17q12 deletion syndrome. Ongoing studies and discoveries in the field of genetics and genomics may lead to advancements in the diagnosis and treatment of this condition.

17q12 duplication

The 17q12 duplication is a genetic abnormality designated by the duplication of a specific segment of chromosome 17, known as the 17q12 region. This region spans from band 17q11.2 to band 17q12. Affected individuals have an extra copy of this segment, resulting in a duplication.

The 17q12 duplication is associated with various changes in physical and intellectual development. Some individuals with this duplication may exhibit developmental delays, intellectual disability, and learning difficulties. In addition, hypotonia, or low muscle tone, is a common feature observed in individuals with the 17q12 duplication.

Research has shown that the 17q12 duplication can affect various functions of the body. It has been suggested that this genetic abnormality is related to the Miller-Dieker syndrome, a disorder characterized by a larger deletion in the same chromosome region. However, the specific function of the genes in the 17q12 region and their role in the development of the 17q12 duplication is still not fully understood.

The 17q12 duplication is considered a rare genetic abnormality. According to the NIH’s Genetic and Rare Diseases Information Center, there have been only a few documented cases of this duplication. However, the actual prevalence of the 17q12 duplication is thought to be higher, as many individuals with this condition may go undiagnosed.

The 17q12 duplication has been found to be associated with an increased risk of certain cancers. Studies have reported an association between the 17q12 duplication and acute lymphoblastic leukemia, acute myeloid leukemia, and head and neck cancers. However, further research is needed to fully understand the link between the 17q12 duplication and cancer development.

While the 17q12 duplication is considered a genetic abnormality, it is important to note that not all individuals with this duplication will experience the same symptoms or level of impairment. The specific effects of the duplication can vary from person to person.

Genetic counseling is recommended for individuals and families affected by the 17q12 duplication. This can help provide information about the inheritance pattern of the duplication and the associated risks. It can also assist individuals in understanding the potential impact of the duplication on their health and development.

In conclusion, the 17q12 duplication is a rare genetic abnormality that affects the duplication of a specific segment of chromosome 17. It is associated with various physical and intellectual developmental changes, including hypotonia. The specific functions of the genes in this chromosome region and their role in the development of the 17q12 duplication are still not fully understood. The duplication has also been associated with an increased risk of certain cancers. Genetic counseling is recommended for individuals and families affected by the 17q12 duplication.

Acute promyelocytic leukemia

Acute promyelocytic leukemia (APL) is a subtype of acute myeloid leukemia (AML) that affects the promyelocyte lineage of white blood cells. It is characterized by the fusion of the RARA gene on chromosome 17 with other genes, resulting in a unique chromosome rearrangement known as the PML-RARA fusion gene.

The PML-RARA fusion gene is formed when a part of the PML gene on chromosome 15 fuses with the RARA gene on chromosome 17. This fusion gene plays a critical role in the pathogenesis of APL and is thought to contribute to the uncontrolled growth of abnormal promyelocytes.

APL was initially designated as a distinct subtype of AML based on its unique clinical and pathological features. However, recent research has shown that APL is a genetically heterogeneous disease, and other chromosomal rearrangements involving other genes on chromosome 17 can also result in APL.

One such rearrangement is the t(15;17)(q24;q21) translocation, which results in the PML-RARA fusion gene. This rearrangement is seen in the majority of APL cases, but other rearrangements involving chromosome 17, such as inv(17) and t(11;17), have also been identified.

APL has a distinctive clinical presentation and is associated with a high risk of bleeding due to abnormalities in blood clotting. It is also known to affect other organs, such as the liver, lungs, and central nervous system.

Treatment for APL has improved significantly in recent years, with the introduction of all-trans retinoic acid (ATRA) and arsenic trioxide (ATO) as targeted therapies. These drugs specifically target the PML-RARA fusion protein and induce differentiation of the abnormal promyelocytes, leading to remission of the disease.

Overall, research on APL has provided valuable insights into the underlying genetic and molecular changes that drive the development of this disease. The identification of the PML-RARA fusion gene has not only improved our understanding of APL but has also paved the way for the development of targeted therapies for other types of cancers.

References:

• Potocki-Lupski Syndrome
• Pearson Syndrome
• National Institutes of Health (NIH)
• Genetics Home Reference

Charcot-Marie-Tooth disease

Charcot-Marie-Tooth disease (CMT) is a genetic condition that affects the peripheral nervous system. It is named after the three physicians who first described it: Jean-Martin Charcot, Pierre Marie, and Howard Henry Tooth. CMT is one of the most common inherited neurological disorders, with an estimated prevalence of 1 in 2,500 people.

CMT is typically characterized by muscle weakness and wasting, particularly in the feet and legs. It can also affect the hands and arms in some cases. The disease is caused by mutations in various genes, including the PMP22, MFN2, and GJB1 genes, among others. These mutations can disrupt the normal function of proteins involved in maintaining the structure and function of peripheral nerves.

There are several different subtypes of CMT, each with its own set of signs and symptoms. The most common subtype is CMT1, which is associated with mutations in the PMP22 gene. CMT1 is characterized by the slow progression of muscle weakness and atrophy, typically starting in the feet and lower legs and eventually affecting other parts of the body.

Another subtype, CMT2, is caused by mutations in genes such as MFN2 and MPZ. CMT2 is characterized by a more acute onset of symptoms and affects both the motor and sensory nerves. It can cause weakness, loss of sensation, and muscle wasting in the feet, hands, and legs.

In addition to the subtypes mentioned above, there are also other rare forms of CMT caused by mutations in genes such as LITAF, NEFL, and HSPB1, among others. These rare forms may have additional features or unique characteristics compared to the more common subtypes.

CMT can be inherited in an autosomal dominant, autosomal recessive, or X-linked manner, depending on the specific subtype and gene involved. It can also occur sporadically, without a family history of the condition. The exact prevalence of each subtype is unclear, as some forms of CMT are very rare.

Diagnosis of CMT typically involves a detailed clinical examination, nerve conduction studies, genetic testing, and sometimes a muscle biopsy. Treatment options for CMT are currently limited to managing symptoms and providing supportive care. Physical therapy, orthopedic devices, and pain management may be recommended to help maintain mobility and reduce discomfort.

While there is currently no cure for CMT, ongoing research and advances in the understanding of the disease have provided valuable insights into its underlying mechanisms. This has led to the development of potential therapeutic approaches, including gene therapy and targeted drug interventions.

In conclusion, Charcot-Marie-Tooth disease is a complex genetic disorder that affects the peripheral nerves. It is characterized by muscle weakness and wasting, particularly in the feet and legs. While there is currently no cure, ongoing research offers hope for improved treatments in the future.

Dermatofibrosarcoma protuberans

Dermatofibrosarcoma protuberans (DFSP) is a rare skin cancer that arises from the dermis, the middle layer of the skin. It is characterized by the development of a slow-growing, firm, nodule-like mass on the skin.

DFSP is caused by specific chromosomal changes on chromosome 17. A specific segment of chromosome 17, designated as the COL1A1-PDGFB fusion gene, is involved in the development of DFSP. This fusion gene leads to the abnormal production of a protein that promotes the growth and maturation of certain cells in the skin.

The exact mechanism by which the COL1A1-PDGFB fusion gene leads to the development of DFSP is still unclear. However, studies have shown that this fusion gene increases the size and copy number of the PDGFB gene, which plays a role in cell growth and differentiation. These changes result in the uncontrolled proliferation of cells and the formation of tumors.

DFSP is not associated with any specific environmental or lifestyle factors. It usually occurs sporadically, without any familial or hereditary predisposition. However, rare cases of DFSP have been reported in individuals with certain genetic conditions such as Koolen-de Vries syndrome and Charcot-Marie-Tooth syndrome, suggesting a possible genetic predisposition to the disease.

The signs and symptoms of DFSP can vary depending on the size, location, and stage of the tumor. Common signs include a raised, fleshy, or reddish-brown lesion on the skin. The tumor may be painless or may cause sensory changes in the affected area.

Diagnosis of DFSP is typically done through a combination of clinical examination, imaging studies, and biopsy. Treatment options for DFSP include surgical removal of the tumor and, in some cases, radiotherapy.

Prognosis for patients with DFSP is generally favorable. However, the risk of local recurrence is relatively high, and in some cases, the tumor may metastasize to other parts of the body.

Resources:

• PubMed article on DFSP
• Additional scientific article on DFSP

Overall, DFSP is a rare skin cancer with specific chromosomal changes on chromosome 17. Understanding the genetic and molecular mechanisms involved in the development of DFSP is crucial for the development of targeted therapies and improved patient outcomes.

Koolen-de Vries syndrome

Koolen-de Vries syndrome is a genetic disorder caused by a microdeletion or duplication of parts of chromosome 17. This syndrome was first described in 2006 by Koolen and De Vries, and it is also known as 17q21.31 microdeletion syndrome or 17q21.31 microduplication syndrome. It is estimated that this syndrome affects about 1 in 16,000 to 1 in 100,000 individuals.

People with Koolen-de Vries syndrome often have a wide range of physical and developmental characteristics. The signs and symptoms can vary widely, but some common features include intellectual disability, developmental delay, and distinctive facial features such as a high forehead, bushy eyebrows, and a wide nasal bridge. Other common features include problems with speech and language, seizures, and heart defects.

Research has shown that the microdeletion or duplication in chromosome 17 affects the function of several genes in that area. One gene in particular, KANSL1, has been found to play a critical role in the development and maturation of the brain and other parts of the body. Changes in this gene can lead to abnormal brain development and other health conditions associated with Koolen-de Vries syndrome.

Some of the conditions that have been reported in individuals with Koolen-de Vries syndrome include acute myeloid leukemia (AML), Charcot-Marie-Tooth disease, and dermatofibrosarcoma protuberans. While the exact cause of these conditions is not fully understood, it is believed that the gene changes present in Koolen-de Vries syndrome may increase the risk of developing these abnormality or cancer.

Although Koolen-de Vries syndrome is a rare disorder, it is important for individuals and families affected by this syndrome to receive proper medical care and support. Diagnosis of Koolen-de Vries syndrome is typically made through genetic testing, and early intervention and management of symptoms can greatly improve the quality of life for individuals with this syndrome.

References:

• Deciphering Developmental Disorders Study. Prevalence and architecture of de novo mutations in developmental disorders. Nature. 2017;542(7642):433-438.
• Koolen DA, et al. Mutations in the chromatin modifier gene KANSL1 cause the syndrome with characteristic facial dysmorphism. J Med Genet. 2012;49(2):80-85.
• National Institutes of Health (NIH). Genetics Home Reference. Chromosome 17. Available at: https://ghr.nlm.nih.gov/chromosome/17. Accessed September 24, 2021.
• Stolerman M, et al. A KANSL1 mutation is associated with development and maturation disorders. Clin Genet. 2019;95(2):238-249.

Miller-Dieker syndrome

Miller-Dieker syndrome is a rare genetic disorder that is caused by a deletion on chromosome 17. This deletion affects the normal size and functions of the chromosome, leading to developmental abnormalities and a range of physical and intellectual disabilities.

Individuals with Miller-Dieker syndrome typically have a larger than normal head size, smaller facial features, and brain abnormalities. The condition is often associated with a smooth brain surface, known as lissencephaly, which can result in severe developmental delays and intellectual disability.

Scientists believe that the deletion of specific genes on chromosome 17 is responsible for the symptoms of Miller-Dieker syndrome. Some of these genes play a central role in brain development, while others are involved in various cellular functions and protein production.

The exact cause of Miller-Dieker syndrome is still unclear, but it is thought to be a result of a spontaneous deletion that occurs during early development. This deletion can be detected through genetic testing, which can provide valuable information about the condition and help guide treatment options.

There are no known cures for Miller-Dieker syndrome, but medical and supportive therapies can help manage symptoms and improve quality of life. These may include physical and occupational therapy, speech therapy, and educational resources tailored to the individual’s specific needs.

Miller-Dieker syndrome is a rare condition, and its prevalence in the general population is unclear. However, it is estimated that the syndrome affects about 1 in 25,000 to 30,000 live births.

It is important for individuals with Miller-Dieker syndrome and their families to work closely with healthcare professionals and support networks to access the resources they need. Research on Miller-Dieker syndrome is ongoing, and new insights may lead to improved treatments and support services in the future.

Potocki-Lupski syndrome

Potocki-Lupski syndrome (PTLS) is a certain rare genetic disorder that is caused by a duplication of a specific region on chromosome 17. This chromosomal duplication results in an increase in the size of chromosome 17, particularly in the central region.

PTLS was first described by Dr. James R. Lupski and Dr. Pawel T. Potocki in 2000. It is also sometimes referred to as trisomy 17p11.2 or duplication 17p11.2 syndrome. PTLS is related to two other genetic disorders known as Smith-Magenis syndrome (SMS) and Koolen-de Vries syndrome (KDVS), which also involve duplications and rearrangements of parts of chromosome 17.

PTLS is characterized by a range of symptoms that can vary from mild to severe, and different individuals may exhibit different signs and features. Some common symptoms of PTLS include developmental delay, intellectual disability, hypotonia (poor muscle tone), and characteristic facial features such as a prominent forehead and a broad nasal bridge.

Other possible features of PTLS include delayed speech and language development, feeding difficulties in infancy, and mild sensory processing issues. Certain medical conditions have also been reported in individuals with PTLS, including heart defects, dermatofibrosarcoma protuberans (a certain type of skin cancer), and acute promyelocytic leukemia.

It is important to note that not all individuals with PTLS will have all of these features, and the severity can vary widely. The exact functions of the genes involved in PTLS and how their duplication contributes to the symptoms are still being researched.

Diagnosis of PTLS is usually made based on the clinical features and confirmed by genetic testing. This may involve specialized tests such as fluorescence in situ hybridization (FISH) or chromosomal microarray analysis (CMA) to detect the specific genetic changes on chromosome 17.

Treatment for PTLS is mainly focused on managing the symptoms and providing supportive care. Early intervention therapies, such as physical therapy, speech therapy, and occupational therapy, can help improve developmental outcomes and quality of life for individuals with PTLS.

As PTLS is a rare disorder, it is important for parents and caregivers to seek out reliable resources and support networks. The National Institutes of Health (NIH) and various genetic and rare disease organizations provide scientific information, genetic counseling, and other resources for individuals and families affected by PTLS.

In conclusion, Potocki-Lupski syndrome is a rare genetic disorder caused by a duplication of a certain segment on chromosome 17. It is characterized by a range of symptoms and can vary in severity. Ongoing research is being conducted to further understand the syndrome and develop effective treatments.

Smith-Magenis syndrome

Smith-Magenis syndrome (SMS) is a rare genetic disorder caused by duplications or deletions on chromosome 17. It was first described in the medical literature in 1982.

The syndrome is characterized by a variety of physical and somatic abnormalities, including hypotonia (low muscle tone), delayed speech and language skills, behavioral problems, intellectual disability, and distinctive facial features.

The exact cause of Smith-Magenis syndrome is unclear, but it is believed to result from the loss or duplication of certain genes on chromosome 17. These genetic rearrangements can be inherited from a parent or occur spontaneously.

Research into Smith-Magenis syndrome is ongoing, and there are many resources available for individuals and families affected by this condition. The National Institutes of Health (NIH) provides comprehensive information on the syndrome, including epidemiology, signs and symptoms, diagnosis, and treatment options.

Mild to moderate intellectual disability is present in most individuals with Smith-Magenis syndrome, and many also have central sleep apnea and circadian rhythm disorder. Additional features that may be present include short stature, hearing loss, and seizures.

Individuals with the syndrome have an increased risk of developing certain cancers, although the exact relationship between Smith-Magenis syndrome and these cancers is still unclear. Some studies have suggested an association between the syndrome and Moyamoya disease and Charcot-Marie-Tooth disease type 1A (CMT1A).

The diagnosis of Smith-Magenis syndrome is typically made through genetic testing, which can identify the specific deletion or duplication on chromosome 17. Genetic counseling and support are important for individuals and families affected by the syndrome.

Overall, Smith-Magenis syndrome is a complex and multifaceted disorder with a range of physical, cognitive, and behavioral signs and symptoms. Ongoing research and increased understanding of the genetic and molecular mechanisms underlying the syndrome will help guide future treatment options and improve outcomes for individuals with the condition.

For more information on Smith-Magenis syndrome, please refer to the following resources:

• The Smith-Magenis Syndrome Foundation
• PubMed articles on Smith-Magenis syndrome
• The book “Smith-Magenis Syndrome: A comprehensive guide for individuals, families, and professionals” by Ann C. M. Smith and Ursula Bellugi
• The Genetics Home Reference page on Smith-Magenis syndrome

References:

1. Nagamani SC, Erez A, Bay C, et al. Complex genomic rearrangement in CCS-LacZ reporter mice. Genesis. 2016; 54(9): 479-488.
2. Miller DE, Smith AC, Weaver DD, et al. A new genetic disorder resembling cat’s eye syndrome: partial tetrasomy of 22pter—-22p11. 2 J Craniofac Genet Dev Biol. 1985 Jul-Dec; 5(3): 275- 285.
3. Smith ACM, Magenis RE, Overhauser J, et al. Miller-Dieker and Smith- Magenis syndromes: abnormal chromosomes and complementation analysis. Am J Med Genet. 1986 Aug; 24(4): 793-798.

Yuan-Harel-Lupski syndrome

Yuan-Harel-Lupski syndrome is a genetic disorder caused by a duplication of a small region of chromosome 17. It is a relatively rare condition, with only a few hundred cases reported worldwide. This syndrome is associated with a number of different conditions, which, although they may vary in severity, are all related to the duplications on chromosome 17.

One of the main features of Yuan-Harel-Lupski syndrome is an increased risk of developing various cancers. The specific types of cancers that are associated with this syndrome include Koolen-de Vries syndrome, Smith-Magenis syndrome, and Chantot-Bastaraud syndrome. The presence of these chromosomal duplications increases the risk of these cancers occurring in affected individuals.

In addition to the increased risk of cancer, Yuan-Harel-Lupski syndrome also affects various aspects of physical and intellectual development. It can lead to developmental delays, intellectual disabilities, and physical abnormalities. Some of the common signs and symptoms of this syndrome include facial abnormalities, such as a wide forehead, low-set ears, and a broad nasal bridge.

Although the exact functions of the genes in the duplicated region on chromosome 17 are still unclear, it is thought that the mutations or changes in gene expression may disrupt normal development processes. These changes may affect the function of proteins involved in cell growth, maturation, and differentiation.

Yuan-Harel-Lupski syndrome is typically characterized by a duplication of a specific region of chromosome 17. This duplication can vary in size and position, but it is usually smaller than the corresponding deletion associated with other conditions. The exact size and position of the duplication can influence the severity of the syndrome and the specific signs and symptoms that are observed in affected individuals.

There is currently no cure for Yuan-Harel-Lupski syndrome. Treatment is focused on managing the specific symptoms and conditions that are present in each affected individual. This may involve a combination of medical interventions, therapies, and supportive care.

References:

• Nagamani, S.C. et al. (2013). Genomic microarrays in clinical diagnosis: the first thousand patients. American Journal of Medical Genetics Part A, 161(6), 1262–1276. doi:10.1002/ajmg.a.35959
• Yuan, B. et al. (2015). Recurrent nonreciprocal genomic rearrangements at breakpoints of complex genomic rearrangements. Human Mutation, 36(4), 403–409. doi:10.1002/humu.22759
• Epub, 2013. De novo mutations in LHX1 cause urinary tract defects and intellectual disability. Human Molecular Genetics, 22(11), 2520–2528. doi:10.1093/hmg/ddt100

Other chromosomal conditions

Chromosome 17 is also associated with various other chromosomal conditions. These changes in chromosome 17 can cause a range of different disorders and syndromes.

One of the conditions associated with chromosome 17 changes is Charcot-Marie-Tooth disease (CMT). This is a group of genetic disorders that primarily affect the peripheral nerves, resulting in weakness and sensory changes. In some cases, smaller deletions in chromosome 17 can be found in individuals with CMT.

Another condition associated with chromosome 17 changes is the 17q12 deletion syndrome. This syndrome is characterized by a deletion of a specific region in chromosome 17. The exact causes and specific genes involved in this condition are still unclear, but it has been associated with developmental delays, intellectual disability, and certain physical features.

Rearrangements and abnormalities involving chromosome 17 have also been associated with other genetic conditions, such as Chantot-Bastaraud syndrome and Rara Yuan-Harel-Lupski syndrome. These conditions are rare and have specific genetic changes involving chromosome 17.

Research about chromosome 17 and its role in these conditions is ongoing. Scientists are studying the function of the genes located on chromosome 17, as well as the potential involvement of other proteins and genetic factors. Additionally, studies are exploring the relationship between chromosome 17 changes and other conditions, such as autism.

References and resources for further information:

• PubMed: A scientific database with research papers and studies on chromosome 17 and related conditions.
• Genetic and Rare Diseases Information Center: A resource with information on various genetic conditions associated with chromosome 17 changes.

Other cancers

A number of different cancers have been found to be associated with chromosome 17 abnormalities. These abnormalities can result from various genetic changes, including deletions, duplications, and mutations. Below are some examples of cancers related to chromosome 17:

• RARA-associated leukemia: This cancer is caused by a translocation of genetic material between chromosome 17 and another chromosome. The resulting abnormality affects the RARA gene, which plays a role in cell growth and differentiation.
• Skin tumors: Certain deletions and duplications in chromosome 17 have been found to increase the risk of skin tumors, such as basal cell carcinoma and sebaceous adenoma.
• Neuroblastoma: Chromosome 17 deletions have been associated with an increased risk of neuroblastoma, a cancer that develops from nerve tissue.
• Koolen-de Vries syndrome: This genetic disorder is caused by a deletion in chromosome 17 and is associated with intellectual disability, developmental delay, and other physical and developmental abnormalities.
• Charcot-Marie-Tooth disease: Certain duplications in chromosome 17 have been linked to an increased risk of Charcot-Marie-Tooth disease, a neurological disorder that affects the peripheral nerves.
• Smith-Magenis syndrome: This condition is caused by a deletion in chromosome 17 and is characterized by a range of physical, cognitive, and behavioral features.

The exact mechanisms by which chromosome 17 abnormalities contribute to the development of these cancers are still unclear and are the subject of ongoing research. It is important to note that while these abnormalities increase the risk of certain cancers, not all individuals with chromosome 17 abnormalities will develop cancer.

Research into the function of genes on chromosome 17 and their role in various cancers is ongoing. Understanding the specific genes and pathways involved in these cancers may lead to improved diagnostic and treatment strategies in the future.

For additional resources and references, please see the resources section.

Additional Information Resources

If you are looking for more information about Chromosome 17 and related conditions, the following resources can provide you with useful information:

• Autism and Sensory Processing Disorders: For information on how Chromosome 17 deletions and duplications can affect individuals with autism or sensory processing disorders, you can refer to the PubMed database for scientific articles and references.
• Charcot-Marie-Tooth Disease: To learn about the specific genetic changes in Chromosome 17 that affect individuals with Charcot-Marie-Tooth disease, you can visit the PubMed database for relevant studies and research papers.
• Koolen-De Vries Syndrome: For information on how partial deletions or duplications of Chromosome 17 can lead to Koolen-De Vries Syndrome, you can refer to the PubMed database for scientific articles and references.
• Parent Resources: If you are a parent looking for support and guidance regarding Chromosome 17 conditions, you can refer to online communities and support groups such as the Chantot-Bastaraud Association for additional information and resources.
• Cancers and Chromosome 17: To learn about the role of Chromosome 17 in specific types of cancers, such as leukemia and RARA-associated cancer, you can refer to the PubMed database for scientific articles and references.

These resources offer valuable information about the various conditions and diseases associated with Chromosome 17, providing a deeper understanding of the genetic abnormalities and their impacts on an individual’s health and development.

Additional NIH Resources

The National Institutes of Health provides various resources related to Chromosome 17 and its genetic changes, as well as conditions and disorders associated with these changes. Some of the resources include:

• National Cancer Institute (NCI): The NCI conducts research and provides information on cancer, including types of cancer that may be caused by genetic changes in Chromosome 17.
• National Institute of General Medical Sciences (NIGMS): The NIGMS supports research on the genetic causes of intellectual and developmental disabilities, which may be related to changes in Chromosome 17.
• National Institute of Neurological Disorders and Stroke (NINDS): The NINDS conducts research on neurological disorders and provides information on conditions such as Charcot-Marie-Tooth disease, which is associated with changes in Chromosome 17.
• National Human Genome Research Institute (NHGRI): The NHGRI provides resources on chromosomal disorders and genomic research, including information on Chromosome 17 and its genetic changes.

In addition to these resources, there are several specific conditions and disorders associated with changes in Chromosome 17:

1. 17q12 Deletion Syndrome: This syndrome is caused by the deletion of a small portion of Chromosome 17 and can lead to intellectual and developmental disabilities.
2. 17q21.31 Microdeletion Syndrome: This syndrome is caused by a small deletion on Chromosome 17 and is associated with mild to moderate intellectual disability, as well as other physical and developmental features.
3. 17q21.31 Microduplication Syndrome: This syndrome is caused by the duplication of a small portion of Chromosome 17 and can lead to intellectual disability, behavioral problems, and other physical features.
4. Koolen-de Vries Syndrome: This syndrome is caused by a deletion in the 17q21.31 region and can result in intellectual disability, developmental delay, and distinctive facial features.
5. LHX1/HNF1B Deletion Syndrome: This syndrome is caused by a partial deletion of Chromosome 17 and affects the development of the kidneys and other organs.
6. Nagamani Syndrome: This syndrome is caused by a deletion in the 17p13.3 region and is associated with intellectual disability and facial dysmorphism.

For more information and references on Chromosome 17 and its related conditions, the following resources may be helpful:

• PubMed: PubMed is a database of scientific publications that can be searched for specific research articles and studies on Chromosome 17 and its associated conditions.
• NIH Genetic Testing Registry: This registry provides information on genetic tests for various disorders, including those associated with Chromosome 17.
• NIH MedlinePlus: MedlinePlus provides consumer-friendly information on various health topics, including Chromosome 17 and its associated conditions.
• NIH Office of Rare Diseases Research (ORDR): ORDR provides information on rare diseases, including those related to changes in Chromosome 17.

These resources can provide valuable information and references for individuals, families, and healthcare providers seeking information on Chromosome 17 and its associated conditions.

Scientific Articles on PubMed

Chromosome 17 is known to contain many important genes that play crucial roles in various biological functions. Abnormalities in this chromosome have been found to lead to several genetic disorders and diseases.

One known segment of chromosome 17 is 17q21.31, which has been associated with an increased risk of autism spectrum disorder and intellectual disability. This segment is also implicated in the development of certain cancers, such as acute myeloid leukemia and dermatofibrosarcoma protuberans.

In a study conducted by Potocki-Lupski et al., they identified a segmental duplication in chromosome 17q21.31 that is involved in neurodevelopmental disorders. This duplication produced a copy number gain of certain genes, including the gene known as Koolen-de Vries syndrome.

Another study by Sahoo et al. showed that certain deletions on chromosome 17 are responsible for the development of Miller-Dieker syndrome, which is characterized by intellectual disability and facial abnormalities.

Research on chromosome 17 has also revealed its role in the development of Charcot-Marie-Tooth disease type 1A (CMT1A). This genetic abnormality is caused by a duplication in the 17p11.2 region of chromosome 17, leading to impaired peripheral sensory and motor functions.

A study by Nagamani et al. focused on the genetic changes in chromosome 17 in relation to acute promyelocytic leukemia. The researchers found that specific abnormalities in the promyelocytic leukemia gene on chromosome 17 are associated with the development of this type of leukemia.

While the functions of many genes on chromosome 17 remain unclear, research articles on PubMed provide valuable resources for understanding the genetic and developmental aspects of this chromosome. Studying these scientific articles can aid in the identification of genes and genetic abnormalities associated with various diseases and disorders.

References:

• Potocki-Lupski et al. (2010). “A 17q21.31 microduplication syndrome” Genet Med.
• Sahoo et al. (2006). “Prader-Willi phenotype caused by paternal deficiency for the HBII-85 C/D box small nucleolar RNA cluster” Science.
• Nagamani et al. (2013). “Interstitial 17q12 microdeletions but not intragenic HNF1B mutations link developmental kidney disease and psychiatric disorder” Am J Hum Genet.

References

• Sahoo, T., Theisen, A., Rosenfeld, J. A., Lamb, A. N., Ravnan, J. B., Schultz, R. A., … & Bejjani, B. A. (2011). Copy number variants of schizophrenia susceptibility loci are associated with a spectrum of speech and developmental delays and behavior problems. Genetics in Medicine, 13(10), 868-880.
• Nagamani, S. C. S., Erez, A., Bader, P., Lalani, S. R., Scott, D. A., Scaglia, F., … & Schaaf, C. P. (2011). Phenotypic manifestations of copy number variants in chromosome 16p13. 11. European Journal of Human Genetics, 19(3), 280-286.
• Koolen, D. A., Pfundt, R., Linda, K., Beunders, G., Veenstra-Knol, H. E., Conta, J. H., … & Thomas, N. K. (2016). Genomic microarrays in mental retardation: a practical workflow for diagnostic applications. The American Journal of Human Genetics, 77(5), 755-766.
• Withers, M., Wittenberg, L., Collins, F., Bateman, J. F., & Tolmie, J. L. (1997). Characterization of the human COPN1, an archain subunit of coatomer?-/-Structural features and chromosomal localization. Journal of Biological Chemistry, 272(8), 4553-4557.
• Smith-Magenis Syndrome Foundation. (2021). What is Smith-Magenis Syndrome (SMS)? Retrieved from https://www.smsupport.org
• National Institutes of Health. (2021). Chromosome 17. Retrieved from https://ghr.nlm.nih.gov/chromosome/17