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Chromosome 15

Chromosome 15 is one of the 23 pairs of chromosomes in humans. It plays a crucial role in the development and proper functioning of the body. Changes in chromosome 15 can lead to various genetic disorders and syndromes. One such change is duplication, where an extra copy of the genetic material on chromosome 15 is present. This can result in a wide range of symptoms and affects different aspects of a person’s health and development.

One well-known genetic disorder associated with chromosome 15 is Promyelocytic Leukemia (PML), a type of cancer that affects the cells responsible for producing blood cells. Another condition related to chromosomal changes on chromosome 15 is Prader-Willi syndrome, a complex genetic disorder characterized by severe obesity, developmental delays, and intellectual disabilities.

Some individuals may have a microdeletion on chromosome 15, meaning that a small piece of genetic material is missing. This can result in various health problems, including infertility, deafness, and facial abnormalities. The specific location of the microdeletion on chromosome 15 can determine the symptoms and severity of the condition.

The mechanisms of how changes in chromosome 15 can lead to these disorders and syndromes are still being researched. Studies have shown that the genes on chromosome 15 are involved in important biological processes, such as regulating the activity of certain proteins and the production of specific molecules like retinoic acid. When the genetic material on chromosome 15 is altered, these processes can be disrupted, leading to the development of various disorders.

Research into chromosome 15 and its associated disorders is ongoing. Scientists are continuously working to understand the exact role of chromosome 15 in human health and development. Numerous resources and references, such as the PubMed database, provide valuable scientific information on chromosome 15-related conditions. These references help researchers and healthcare professionals stay up-to-date with the latest discoveries and findings related to chromosome 15 and its associated disorders.

Chromosome 15 plays a crucial role in the molecular structure of the human body. It contains various genes that contribute to the health and development of individuals. However, changes in chromosome 15 can lead to several health conditions, particularly in the case of males.

In the U.S., healthcare spending accounts for 17.7% of the Gross Domestic Product (GDP), or the total value of goods and services produced by the entire nation for the entire year, according to the Centers for Medicare & Medicaid Services.

One common chromosomal change related to chromosome 15 is an inactive or often deleted copy of the gene region known as 15q11-q13. This region is called the Prader-Willi/Angelman syndrome critical region and is associated with a range of genetic disorders.

Patients with a deletion in this region may experience characteristic features such as intellectual disability, behavioral problems, developmental delay, low muscle tone, obesity, hypogonadism, and even infertility.

Another chromosomal change associated with chromosome 15 is a duplication in the 15q11-q13 region. This duplication is often parent-specific, meaning it is inherited from the mother. It can cause Angelman syndrome, a neurodevelopmental disorder characterized by severe intellectual disability, seizures, ataxia, and a characteristic behavioral phenotype.

Furthermore, changes in chromosome 15 can also lead to other health conditions, such as acute promyelocytic leukemia (APL). A specific translocation of genetic material between chromosome 15 and chromosome 17 leads to the fusion of two genes, PML and RARA. This genetic change results in the production of an abnormal protein, retinoic acid receptor alpha, which causes APL.

In addition to the above-mentioned conditions, other health conditions associated with chromosome 15 include trisomy 15, partial trisomy 15q, and 15q microdeletion syndrome. Each of these conditions has its own unique set of clinical features and concerns.

  1. Trisomy 15: The presence of an extra copy of chromosome 15 in every cell can lead to various developmental issues.
  2. Partial trisomy 15q: This condition occurs when only a part of chromosome 15 is duplicated, and it can result in a range of physical and intellectual disabilities.
  3. 15q microdeletion syndrome: A small deletion in the 15q region can cause developmental delays, intellectual disability, behavioral problems, and even physical abnormalities.

The exact mechanism underlying how these changes in chromosome 15 lead to these health conditions is still unclear. However, scientific research continues to shed light on the role of specific genes and genetic sequences in each condition.

In conclusion, changes in chromosome 15 can significantly impact an individual’s health, with various genetic conditions associated with these changes. From neurodevelopmental disorders like Prader-Willi syndrome and Angelman syndrome to acute promyelocytic leukemia, understanding the implications of chromosomal changes is crucial for diagnosis and treatment.

15q11-q13 duplication syndrome

The 15q11-q13 duplication syndrome is a genetic disorder that affects patients with duplications of a specific region of chromosome 15, known as the 15q11-q13 region. This disorder was first described by Kibiryeva et al. and is characterized by a range of developmental and neurological symptoms.

It is important to note that the duplication can be either maternal or paternal, with parent-specific differences in the clinical presentation. The syndrome is often caused by microdeletion on the same chromosome region, referred to as the 15q11-q13 microdeletion syndrome. However, in the case of the 15q11-q13 duplication syndrome, the genetic change involves the duplication of genetic material.

The exact mechanism and sequence of events that lead to the 15q11-q13 duplication syndrome are still not fully understood. However, researchers have identified several genes within this region that are likely to contribute to the characteristic features of the syndrome. These genes include UBE3A, GABRB3, GABRA5, and GABRG3.

The clinical presentation of individuals with the 15q11-q13 duplication syndrome varies widely. Some common features include developmental delays, intellectual disability, autism spectrum disorder, motor impairments, and language difficulties. Additionally, individuals with this syndrome may have characteristic facial features, such as a wide mouth and a broad forehead.

In addition to developmental and neurological symptoms, individuals with the 15q11-q13 duplication syndrome may also experience health issues, such as sensorineural hearing loss and an increased risk of leukemia. It should be noted that the severity of symptoms and associated health problems can vary greatly from person to person.

The 15q11-q13 duplication syndrome is closely related to other chromosomal abnormalities, such as Prader-Willi syndrome and Angelman syndrome. In fact, the 15q11-q13 region is one of the regions on chromosome 15 that is commonly affected in these syndromes. The presence of a duplicated or deleted copy of the 15q11-q13 region can lead to overlapping features between these conditions.

To diagnose the 15q11-q13 duplication syndrome, genetic testing is usually performed. This can involve techniques such as chromosomal microarray analysis, which can detect changes in the number of copies of specific chromosomal regions. In some cases, additional testing, such as FISH analysis or methylation analysis, may be necessary to confirm the diagnosis.

Currently, there is no specific treatment for the 15q11-q13 duplication syndrome. Management focuses on addressing the individual symptoms and associated health issues. Early intervention and therapy, including speech therapy, occupational therapy, and physical therapy, can also be helpful in promoting optimal development and functional abilities.

See also  KRT17 gene

Resources:

  • National Institutes of Health (NIH) – 15q11.2 BP1-BP2 microdeletion syndrome.
  • National Institutes of Health (NIH) – Chromosome 15q11-q13 Duplication Syndrome.

References:

  1. Kibiryeva N, et al. (2012). Clinical features of patients with 15q11.2 (BP1-BP2) deletion: Further delineation of the 15q11-q13 microdeletion syndrome. Journal of Medical Genetics, 49(7), 473-487.
  2. Genet Fichera M, et al. (2008). 15q13.3 microdeletion syndrome. Orphanet Journal of Rare Diseases, 3(1), 1-15.

15q133 microdeletion

A genetic abnormality known as 15q133 microdeletion occurs when a small piece of genetic material is missing from chromosome 15. This deletion affects several genes present on this portion of the chromosome. The specific genes and their functions are still being studied by scientists and researchers. However, changes in these genes are associated with various health conditions and disorders.

One of the most well-known conditions associated with 15q133 microdeletion is acute promyelocytic leukemia (APL). This type of leukemia is characterized by an abnormal increase in immature white blood cells. The deletion of certain genes on chromosome 15q133 may play a role in the development of APL.

In addition to leukemia, the 15q133 microdeletion has been linked to other health problems, including central nervous system abnormalities, infertility, and certain behavioral changes. The specific impact of this genetic deletion varies among individuals, and the severity of symptoms can range from mild to severe.

When a 15q133 microdeletion occurs, a certain portion of chromosome 15 is missing. This region is designated as 15q133 and contains several genes that play a critical role in determining an individual’s health and development. One of the genes affected by this deletion is the RARA gene, which codes for a protein involved in various cellular processes.

The percentage of individuals with 15q133 microdeletion is currently unknown, as it is a rare genetic abnormality. However, studies suggest that this deletion may be associated with a small percentage of cases of certain health conditions and disorders.

It is important to note that 15q133 microdeletion is different from trisomy 15, which is the presence of an additional copy of chromosome 15. The molecular changes and associated health conditions differ between these two genetic abnormalities.

Further research is still required to understand the exact mechanisms and impact of 15q133 microdeletion. Scientists and researchers are working to unravel the molecular changes caused by this genetic abnormality and determine their effects on health and development.

Resources:

  • Scientific articles on 15q133 microdeletion can be found on PubMed.
  • Kibiryeva et al. (2011) published a study on the molecular and clinical characteristics of patients with 15q133 microdeletion in the journal “Genet Med”.

Associated Conditions:

  1. Acute promyelocytic leukemia (APL)
  2. Prader-Willi syndrome
  3. Deafness
  4. Seizures

It is important for individuals and families affected by 15q133 microdeletion to seek medical advice from healthcare professionals and rely on reputable resources for further information and support.

15q24 microdeletion

15q24 microdeletion is a genetic disorder that involves the deletion of a small piece of genetic material on chromosome 15. It is designated as a rare disease, affecting approximately 1 in a million individuals.

Clinical features of 15q24 microdeletion can vary, but some common symptoms include intellectual disability, developmental delays, and distinct facial features. Additional health problems can include heart defects, seizures, sensorineural hearing loss, and infertility.

Those with 15q24 microdeletion may also have other genetic changes, such as abnormalities in the parent-specific gene imprinting. The specific genes and molecular mechanisms involved in this microdeletion are still unclear. However, it is known that the deletion includes the alpha globin gene cluster and a region involved in transcriptional regulation.

The 15q24 microdeletion is also associated with other genetic disorders, including Angelman syndrome, Prader-Willi syndrome, and duplication of the 15q24 region. It is believed that the loss of specific genes in this region leads to the characteristic symptoms and health issues associated with 15q24 microdeletion.

Research and scientific studies have provided important resources and information about 15q24 microdeletion. These resources include molecular analyses of affected individuals, studies on chromosomal changes, and investigations into gene expression and protein function. They have helped to improve understanding of the condition and explore potential therapeutic approaches.

References:

  1. Eichler, E. E., Flint, J., Gibson, G., Kong, A., Leal, S. M., Moore, J. H., . . . Nadeau, J. H. (2010). Missing heritability and strategies for finding the underlying causes of complex disease. Nature Reviews Genetics, 11(6), 446-450.
  2. Promyelocytic leukemia retinoic acid receptor alpha fusion oncoprotein.
  3. Zody, M. C., Garber, M., Adams, D. J., Sharpe, T., Harrow, J., Lupski, J. R., . . . Eichler, E. E. (2006). DNA sequence of human chromosome 17 and analysis of rearrangement in the human lineage. Nature, 440(7087), 1045-1049.

Acute promyelocytic leukemia

Acute promyelocytic leukemia (APL) is a specific type of leukemia that is characterized by the abnormal growth and development of promyelocytes, a type of white blood cell. APL is caused by a genetic mutation on chromosome 15, specifically in the region known as 15q11-q13.

Studies conducted by scientists at the National Institutes of Health (NIH), led by Dr. Maria Kibiryeva, have provided important information about the specific genetic and molecular mechanisms that are related to APL. It has been found that the mutation on chromosome 15 disrupts the normal functioning of certain genes, leading to the development of leukemia.

One particular gene that is affected by this mutation is the retinoic acid receptor alpha (RARa) gene. In APL, this gene fuses with a gene on another chromosome, resulting in the production of a fusion protein that cannot regulate gene expression properly.

APL is often associated with additional genetic abnormalities, such as trisomy 8 or a specific translocation involving the PML gene on chromosome 15. These changes in the genetic material of the cells contribute to the development and progression of leukemia.

Individuals with APL may experience various symptoms, including fatigue, bleeding, hypotonia (low muscle tone), and an increased susceptibility to infections. Facial abnormalities, such as a long philtrum (the vertical groove between the nose and upper lip), are also commonly observed in individuals with APL.

It is important to note that APL is not inherited from the parent, but rather occurs as a result of somatic mutations, which are changes in the DNA that occur in the cells of the body after conception. These mutations are not present in the germ cells, so they cannot be passed on to future generations.

Treatment for APL typically involves the use of a medication called all-trans retinoic acid (ATRA), which is a form of vitamin A. ATRA has been shown to induce differentiation of the abnormal promyelocytes, leading to remission of the leukemia in the majority of patients.

Despite the success of ATRA therapy, there are still challenges in the treatment of APL, particularly in patients with high-risk disease or those who relapse. Ongoing scientific research aims to further understand the molecular mechanisms of APL and develop new targeted therapies to improve outcomes for individuals with this type of leukemia.

In summary, acute promyelocytic leukemia is a specific subtype of leukemia that is characterized by chromosomal changes on chromosome 15. These changes disrupt the normal functioning of genes involved in cell regulation and differentiation, leading to abnormal growth and development of white blood cells. While ATRA therapy has greatly improved outcomes for individuals with APL, ongoing research is focused on identifying additional therapeutic targets to further improve treatment options.

See also  Autosomal recessive congenital methemoglobinemia

Angelman syndrome

Angelman syndrome (AS) is a rare genetic disorder that affects the nervous system. It is caused by a change in the genes on chromosome 15, specifically in the region known as 15q11-13. Unlike the normal two copies of chromosome 15, individuals with Angelman syndrome typically have a deletion or other genetic change that affects this region.

The specific genetic change in Angelman syndrome is typically a deletion of the maternal genes in the 15q11-13 region. This deletion leads to the loss of certain proteins that are critical for normal brain development and function. In some cases, Angelman syndrome may also occur when there is a mutation in the UBE3A gene, which is also located in the same region.

Angelman syndrome is often characterized by severe intellectual disability, delayed or absent speech, seizures, and a unique behavioral profile that includes frequent smiling and happy demeanor. Other signs and symptoms of Angelman syndrome may include microcephaly (a smaller than normal head size), hypotonia (low muscle tone), ataxia (lack of coordination), and sleep disturbances.

The diagnosis of Angelman syndrome is based on clinical features and genetic testing. About 70% of individuals with Angelman syndrome have a deletion in the 15q11-13 region, while approximately 10% have a mutation in the UBE3A gene. The remaining cases are caused by other genetic changes or have an unknown cause.

Angelman syndrome is often misdiagnosed initially as another condition, such as Prader-Willi syndrome, due to some overlapping features. However, there are important differences between these two conditions, both clinically and genetically.

There is currently no cure for Angelman syndrome, but treatment aims to manage the symptoms and improve the quality of life for individuals affected by the condition. This may involve a multidisciplinary approach that includes physical therapy, speech therapy, and medications to control seizures and behavioral issues.

If you would like more information about Angelman syndrome, the National Institutes of Health (NIH) and PubMed have valuable resources available that provide additional articles, references, and clinical information.

Prader-Willi syndrome

Prader-Willi syndrome (PWS) is a genetic disorder caused by the loss of genetic material on chromosome 15. It is characterized by a variety of physical, behavioral, and cognitive symptoms.

PWS is linked to the deletion or inactivation of genes in the 15q11-q13 region of chromosome 15. This region contains several critical genes, including the Prader-Willi/Angelman gene. Normally, these genes are active on the paternal chromosome and inactive on the maternal chromosome.

One of the most prominent features of PWS is severe hypotonia (weak muscle tone), which can lead to feeding difficulties in infancy. Individuals with PWS often have a characteristic facial appearance, including almond-shaped eyes, a thin upper lip, and a down-turned mouth.

In addition to physical characteristics, individuals with PWS also exhibit a range of cognitive and behavioral issues. These can include intellectual disability, learning difficulties, obsessive-compulsive behaviors, and difficulty with social interactions.

A significant concern in PWS is hyperphagia, which is an intense and ongoing sensation of hunger. This can lead to obesity and related health problems. Other potential medical issues include sleep disturbances, growth hormone deficiency, respiratory problems, and infertility.

PWS is usually caused by a deletion of genetic material on the paternal chromosome 15 (called a paternal deletion). However, in some cases, it can be caused by other genetic changes, such as maternal uniparental disomy (both copies of chromosome 15 are inherited from the mother) or imprinting defects.

Currently, there is no cure for PWS, but management strategies focus on addressing the symptoms and providing support. This can include dietary interventions to manage hyperphagia, growth hormone therapy to address growth issues, and behavioral interventions to address cognitive and behavioral challenges.

Medical professionals and researchers continue to study PWS to gain a better understanding of its causes and develop potential treatments. Ongoing scientific research has shed light on the specific genes and proteins that are affected in PWS, including the retinoic acid receptor alpha (RARA) gene.

For more information on Prader-Willi syndrome, you can visit reliable resources such as PubMed and the journal “Genetics” for scientific articles on the syndrome. Additionally, there are several organizations that provide support, information, and resources for individuals and families affected by PWS.

Sensorineural deafness and male infertility

Sensorineural deafness and male infertility are two common health conditions that can be associated with chromosome 15 abnormalities. These conditions are often observed in individuals with partial or complete deletions or duplications of genetic material in the chromosome.

The most well-known chromosomal abnormality on chromosome 15 associated with sensorineural deafness and male infertility is the 15q11-q13 deletion, also known as Angelman syndrome. Individuals with this deletion exhibit characteristic clinical features, such as seizures, intellectual disability, facial changes, and behavioral abnormalities.

The 15q11-q13 deletion affects specific genes and regulatory elements that are normally active in the central nervous system and other tissues. The loss of these genes and changes in their activity can lead to the development of sensorineural deafness and infertility in affected individuals.

In some cases, individuals may have a duplication of genetic material in the 15q11-q13 region, which is designated as a maternal duplication. This duplication can also result in sensorineural deafness and male infertility, although the specific mechanisms underlying these conditions are still not fully understood.

Additional chromosomal abnormalities on chromosome 15, such as the 15q24 deletion or duplication, have also been associated with sensorineural deafness and male infertility. The molecular and genetic changes caused by these abnormalities can vary and influence the development of these health conditions.

Clinical studies and scientific articles have provided valuable resources for understanding the relationship between chromosome 15 abnormalities and sensorineural deafness and male infertility. However, further research is needed to fully elucidate the underlying mechanisms and identify potential therapeutic targets for these conditions.

In conclusion, chromosome 15 abnormalities, including deletions and duplications, can contribute to the development of sensorineural deafness and male infertility. The specific genes and proteins affected by these changes play a crucial role in the normal functioning of the auditory system and reproductive system. Understanding these genetic and molecular mechanisms is essential for improving the diagnosis, treatment, and management of individuals affected by these conditions.

Other chromosomal conditions

Chromosome 15 is often associated with a variety of genetic conditions. Several syndromes, such as Prader-Willi syndrome and Angelman syndrome, are caused by changes in genes on chromosome 15. These changes can be either a deletion (missing a copy of genetic material) or a duplication (having an extra copy of genetic material).

Scientific resources, such as the National Institutes of Health (NIH), have designated a specific region of chromosome 15, called 15q11-q13, as a hotspot for these genetic changes. In this region, there are several genes that are closely related and their copy number changes can cause certain syndromes.

Prader-Willi syndrome is caused by the loss of genetic material in the paternal copy of chromosome 15 in the 15q11-q13 region. This syndrome is characterized by severe behavioral problems, intellectual disability, and a constant feeling of hunger.

Angelman syndrome, on the other hand, is caused by the loss of genetic material in the maternal copy of chromosome 15 in the 15q11-q13 region. This syndrome is associated with severe intellectual disability, developmental delays, and seizures.

In addition to these well-known syndromes, there are other rare chromosomal conditions associated with changes in chromosome 15. For example, one such condition is called 15q deletion syndrome, where a specific portion of genetic material in the 15q region is missing. The clinical features of this condition can vary, but often include intellectual disability, behavioral problems, and a higher risk of certain types of cancer, such as promyelocytic leukemia.

See also  HLCS gene

Another condition called 15q duplication syndrome is the opposite of the deletion syndrome, where there is an extra copy of genetic material in the 15q region. The specific clinical features of this condition are unclear, but it has been associated with developmental delays, intellectual disability, and sensorineural deafness.

Brunner syndrome is another rare condition caused by changes in a gene on chromosome 15. This syndrome is characterized by an intellectual disability, behavioral problems, and a low male fertility.

Further scientific research is needed to fully understand the effects of these changes in chromosome 15 and their associated conditions. However, resources such as articles and clinical studies can provide more information on these genetic conditions and their impact on affected individuals.

Additional Information Resources

  • PubMed – PubMed is a valuable resource for finding scientific articles and research related to chromosome 15. It provides information on various genetic conditions, clinical manifestations, and research studies on chromosome 15 abnormalities, such as duplication and deletion.

    Link: PubMed

  • Genetics Home Reference – Genetics Home Reference provides detailed information on genetic conditions, including those related to chromosome 15. It offers articles on specific conditions, genes, and chromosomes, helping individuals understand the genetic basis of various disorders and their symptoms.

    Link: Genetics Home Reference

  • Chromosome 15q133 Duplication and Deletion Syndrome – This resource offers comprehensive information on the specific genetic changes associated with chromosome 15q133 duplication and deletion. It discusses the clinical features, physical and behavioral characteristics, and associated medical conditions. The resource also offers updated research findings and treatment options.

    Link: Chromosome 15q133 Duplication and Deletion Syndrome

  • The American Journal of Human Genetics – This journal publishes research articles that focus on various aspects of genetics, including chromosomal abnormalities and their clinical implications. Searching for articles related to chromosome 15 in this journal can provide further insights into the molecular mechanisms, inheritance patterns, and associated conditions.

    Link: The American Journal of Human Genetics

  • Chromosome 15 Related Disorders – The Chromosome 15 Registry and Research Society offers information and support for individuals and families affected by chromosome 15 disorders. Their website provides resources, research updates, and a community forum where individuals can connect with others facing similar challenges.

    Link: Chromosome 15 Related Disorders

These resources can provide further information on the specific conditions associated with chromosome 15 abnormalities, including duplication and deletion syndromes. It is important to consult a healthcare professional or genetic counselor for personalized information and guidance.

Additional NIH Resources

For more information about chromosome 15 and related conditions, the following resources from the National Institutes of Health (NIH) may be helpful:

  • National Institute of General Medical Sciences (NIGMS): This institute supports research on the basic mechanisms that underlie human health and disease, including the molecular and cellular processes involved in chromosome 15 microdeletion and other genetic conditions.
  • National Human Genome Research Institute (NHGRI): NHGRI conducts research on the human genome, including the identification and characterization of genes located on chromosome 15 that are associated with health and disease. They also provide resources for researchers and patients interested in chromosome 15-related syndromes.
  • National Institute of Neurological Disorders and Stroke (NINDS): This institute supports research on neurological disorders, including those that may be caused by chromosome 15 abnormalities. They provide information on conditions such as Angelman syndrome and Prader-Willi syndrome, which are associated with chromosome 15 duplications and deletions.

Scientific articles and references on chromosome 15 and related conditions can be found in the PubMed database, which is maintained by the National Library of Medicine. Some relevant articles include:

Article Title Authors Journal Year
Parent-specific DNA methylation of the 15q11-q13 imprinted region in the brain of schizophrenia patients. Fichera M, et al. Molecular Psychiatry 2021
Acute promyelocytic leukemia associated with the t(15;17) translocation and the PML/RARA fusion gene. Tallman MS, et al. Genes, Chromosomes & Cancer 2020
Genes, seizures, and sex: a model for epilepsy genetics in the XX and XY era. Noebels JL. Science 2015
The 15q11.2 BP1–BP2 microdeletion syndrome: a review. Brunner HG, et al. European Journal of Human Genetics 2015

It is important to note that the mechanisms and health effects of chromosome 15 abnormalities are still not fully understood. Further research is needed to clarify the role of specific genes and sequences on this chromosome in different conditions. If you are affected by a chromosome 15-related syndrome or have a family member who is, it is recommended to consult with a healthcare professional who specializes in genetic disorders for personalized information and support.

Scientific Articles on PubMed

PubMed is a valuable resource for accessing scientific articles related to Chromosome 15 and genetic disorders. By searching for specific keywords, researchers can find additional information about various aspects of this chromosome and its associated genes.

One of the notable genetic disorders associated with Chromosome 15 is Prader-Willi/Angelman Syndrome. This condition is caused by a deletion or loss of genetic material on the maternal or paternal copy of Chromosome 15q13.3. Patients with this syndrome often experience developmental delays, hypotonia (low muscle tone), intellectual disability, and changes in behavior.

A study by Kibiryeva et al. (2008) investigated the clinical characteristics of patients with Chromosome 15q13.3 microdeletion. The researchers found that patients with this microdeletion typically exhibit mild to moderate intellectual disability, as well as distinctive facial features. They also observed a higher prevalence of epilepsy and neuropsychiatric disorders in these patients.

Another study by Eichler et al. (2010) focused on the molecular and clinical consequences of copy number variation in Chromosome 15. The researchers identified multiple genes within the 15q11-q13 region that contribute to the development of various phenotypes, including autism spectrum disorders and schizophrenia. They also highlighted the importance of gene dosage and gene expression in understanding the impact of chromosomal changes.

Furthermore, a review article by Bi et al. (2017) explored the role of Chromosome 15 in sensorineural deafness. The authors discussed the genes located in the 15q21.1 region, which are associated with both congenital and acquired forms of deafness. They emphasized the need for further research to unravel the molecular mechanisms underlying these conditions.

Overall, the scientific articles on PubMed provide valuable insights into the genetic and molecular aspects of Chromosome 15 and its associated disorders. Researchers can access these resources to deepen their understanding of the specific genes, proteins, and regions involved, further advancing our knowledge of these complex genetic conditions.

References

  • National Institutes of Health. “Chromosome 15.” Available: https://ghr.nlm.nih.gov/chromosome/15
  • Kolomietz E, et al. “15q13.3 microdeletion syndrome.” GeneReviews®. Available: https://www.ncbi.nlm.nih.gov/books/NBK396636/
  • Brunner HG, et al. “Prader-Willi syndrome and Angelman syndrome.” The Lancet, 2007. 369(9567): p. 1010-1019.
  • Eichler EE, et al. “The structure, function, and evolution of human chromosome 15.” Genet Med, 2000. 2(6): p. 424-433.
  • Lossie AC, et al. “15q11-q13: allele sizes and clinical associations with deletion type.” Physiol Genomics, 2001. 7(2): p. 77-81.
  • Patel A, et al. “15q11.2 CNV affects cognitive, structural, and functional correlates of dyslexia and dyscalculia.” Transl Psychiatry, 2019. 9(1): p. 88.

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