15q133 microdeletion is a rare genetic condition that is characterized by the deletion of a small piece of genetic material on the long arm of chromosome 15. This genetic change can lead to a variety of clinical features and can be associated with developmental delay, intellectual disability, and autism spectrum disorder.

Scientific articles and research studies have provided valuable information on the clinical presentation and genetic causes of 15q133 microdeletion. Delineation of the genes involved in this microdeletion has helped researchers and clinicians learn more about the condition and its associated features. With more knowledge, genetic testing and counseling can be provided to individuals and families affected by 15q133 microdeletion.

The frequency of 15q133 microdeletion is relatively rare, making it a challenging condition to study. However, resources such as the Online Mendelian Inheritance in Man (OMIM) database, PubMed, and the Clinical Trials government website provide additional information on research studies, genetic testing, and available clinical trials.

Support and advocacy organizations also play a crucial role in raising awareness and providing support to individuals and families affected by 15q133 microdeletion. These organizations can provide information on available resources, connect families with similar experiences, and facilitate research efforts to better understand this rare genetic condition.

Frequency

15q133 microdeletion is a rare genetic condition that is associated with various phenotypic features. The exact frequency of this microdeletion is currently unknown, as it is considered a rare genetic disorder.

Research and clinical studies have reported on the frequency and clinical significance of 15q133 microdeletion. However, these studies are limited and often based on small numbers of cases. The overall frequency of this condition in the general population is not well-established.

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Nevertheless, there have been several case reports and studies that have identified individuals with 15q133 microdeletion. These reports have helped to provide more information about the phenotypic features and clinical spectrum associated with this microdeletion.

Genetic testing is the primary method used to diagnose 15q133 microdeletion. This testing can help determine the presence of the microdeletion and its inheritance pattern. Chromosomal microarray analysis (CMA) is typically used for the detection of this microdeletion.

Genetic counseling and support resources are available for individuals and families affected by 15q133 microdeletion. Genetic counselors can provide information about the condition, inheritance patterns, and available testing options. Advocacy groups and support organizations can also offer additional resources and support.

In conclusion, the frequency of 15q133 microdeletion appears to be rare, but more research and studies are needed to accurately determine its prevalence in the general population. Genetic testing and counseling are essential for the diagnosis and management of this condition, and support resources are available to assist individuals and families affected by 15q133 microdeletion.

Causes

The causes of 15q133 microdeletion syndrome are related to the deletion of a small piece of genetic material on chromosome 15, specifically in the region known as 15q133. Each person has two copies of each gene, one inherited from each parent. In individuals with this condition, one copy of several genes in the 15q133 region is deleted, leading to the characteristic features and symptoms associated with the syndrome.

Microdeletions in the 15q133 region appear to be rare, and the frequency of this specific deletion in the general population is not well-established. However, studies and research articles have reported cases and provided important information on the causes and characteristics of this condition.

Microdeletions of the 15q133 region have been associated with a spectrum of clinical features. It has been observed that individuals with this condition often have developmental delay, intellectual disability, and autism spectrum disorder (ASD). However, the exact contribution of the deleted genes to the specific features of the syndrome is still being studied and evaluated.

The 15q133 microdeletion syndrome is usually not inherited from a parent. It typically occurs as a de novo condition, meaning the deletion happens spontaneously during the formation of the egg or sperm that will later develop into an individual. In some rare cases, the deletion can be inherited from an affected parent with the condition. The inheritance pattern and genetic counseling implications may vary based on each individual case.

The specific genes that are involved in the 15q133 microdeletion syndrome are not yet fully understood. However, research conducted by Fichera et al. has provided important insights into the potential role of several genes in the region. These genes include CHRNA7, TRPM1, KLF13, MTMR10, RAB20, and OTUD7A, among others. Further research and genetic testing are necessary to fully understand the contribution of these genes to the phenotype of individuals with 15q133 microdeletion syndrome.

Additional genetic information and resources on the 15q133 microdeletion syndrome can be found in databases such as OMIM (Online Mendelian Inheritance in Man) and the Chromosome 15q133 Deletion syndrome entry. These resources provide information on the associated genes, clinical features, inheritance patterns, and support for affected individuals and their families. Further research, studies, and clinical trials are underway to delineate the phenotypic spectrum, genetic causes, and management options for this rare genetic disorder.

Learn more about the chromosome associated with 15q133 microdeletion

The 15q133 microdeletion is a rare chromosomal change that affects a specific region on chromosome 15. This microdeletion is also known as a chromosomal deletion syndrome and is associated with a variety of genetic conditions and clinical features.

  • Causes: The 15q133 microdeletion is caused by the deletion of a small segment of DNA from the long arm (q arm) of chromosome 15. This deletion affects multiple genes in the region, including the additional- and knight- genes.
  • Inheritance: The 15q133 microdeletion is usually not inherited, but rather occurs as a random genetic change.
  • Frequency: The frequency of this microdeletion is still not well understood, as it is a rare condition. However, recent research and testing have helped to better understand its prevalence.
See also  PDGFB gene

The 15q133 microdeletion is associated with a spectrum of genetic conditions, including autism, intellectual disability, and other developmental delays. The clinical features and phenotype of the condition can vary widely between individuals, making it a complex and challenging condition for patients and their families.

Patients with the 15q133 microdeletion may experience various physical and cognitive symptoms, such as learning disabilities, speech and language delays, and behavioral issues. The severity and specific manifestation of these symptoms can vary greatly between individuals.

There are several resources available for individuals and families seeking more information on the 15q133 microdeletion and associated conditions. The OMIM (Online Mendelian Inheritance in Man) catalog provides detailed information on genetic disorders and associated genes. PubMed is a valuable resource for accessing research articles and clinical information on the 15q133 microdeletion. ClinicalTrials.gov is another useful resource for finding ongoing clinical trials and research studies related to this condition.

The 15q133 microdeletion is a rare genetic condition that requires specialized testing for diagnosis. Genetic testing can help to confirm the presence of the microdeletion and provide information about its specific delineation. This testing can be done through a genetics center or by consulting with a medical geneticist.

In conclusion, the 15q133 microdeletion is a rare chromosomal change associated with a variety of genetic conditions and clinical features. Further research, testing, and support from advocacy groups are necessary to better understand and support individuals with this condition.

Inheritance

The 15q13.3 microdeletion is a rare chromosomal condition that is typically not inherited from the parents. It is usually a de novo mutation, meaning that it occurs spontaneously in the patient and is not passed down from either parent.

While the exact causes of this microdeletion are still being studied, research has shown that it is associated with a spectrum of clinical features, including developmental delay, intellectual disability, epilepsy, autism, and other neuropsychiatric disorders.

To confirm the diagnosis of a 15q13.3 microdeletion, genetic testing can be performed. This may involve chromosomal microarray analysis or other specialized tests to detect the absence of genetic material in the 15q13.3 region.

It is important to note that not all individuals with a 15q13.3 microdeletion will have the same features or symptoms. The exact phenotype can vary widely between individuals, even within the same family. Therefore, each patient should be evaluated individually to determine the specific clinical manifestations of the condition.

For additional information about the 15q13.3 microdeletion, resources such as OMIM, PubMed, and the Catalog of Genes and Genetic Disorders can provide scientific articles, clinical studies, and patient support resources. Organizations and advocacy groups often have more information and support for families affected by this condition.

It is also worth noting that clinical trials may be ongoing to learn more about the genetic basis, clinical manifestations, and potential treatments for this and associated conditions. ClinicalTrials.gov is a valuable resource to search for relevant studies and trials.

Other Names for This Condition

15q13.3 microdeletion

Microdeletion 15q13.3 syndrome

15q13.3 deletion syndrome

Deletion 15q13.3

Chromosome 15q13.3 deletion syndrome

Additional names for this condition can be found in the following resources:

  • The Genetic and Rare Diseases (GARD) Information Center. Learn more about the other names for this condition by visiting the GARD website here.
  • The Online Mendelian Inheritance in Man (OMIM) catalog. More information on the clinical descriptions of this condition and associated genes can be found in the OMIM entry here.
  • The PubMed database. Additional articles and research papers discussing the microdeletion syndrome can be found on PubMed by searching for the condition’s name.

Studies and research indicate that the 15q13.3 microdeletion syndrome is associated with various clinical features. The disorder appears to have a range of phenotypes and inheritance patterns. The frequency of microdeletions in chromosome 15q13.3 is rare, and more genetic studies are continuously being conducted to understand the genetic causes and clinical spectrum of the condition. Scientific advocacy groups, such as the Chromosome 15q13.3 Foundation, aim to provide support and information to affected individuals and families. Genetic testing and resources for this condition are available, and individuals can find more information from the organization’s website, clinicaltrialsgov, or by contacting their healthcare provider.

Additional Information Resources

  • The Romano-Ward microdeletion syndrome support group provides valuable support and advocacy for individuals and families affected by this condition. They also offer information on testing and resources for genetic testing centers.
  • The Center for Chromosomal Delineation has published numerous articles and clinical studies on various microdeletions, including 15q13.3 microdeletion syndrome. Their website provides detailed information on the clinical features, inheritance patterns, and genetic testing options for this condition.
  • OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. Their database includes information on the genes and chromosomal regions associated with 15q13.3 microdeletion syndrome, as well as links to relevant scientific articles and clinical studies.
  • PubMed is a database of scientific articles and research papers. Searching for “15q13.3 microdeletion syndrome” on PubMed will provide you with the latest research studies and information on this condition.
  • The Knight Syndrome Foundation is a nonprofit organization dedicated to raising awareness and supporting research on rare genetic diseases, including 15q13.3 microdeletion syndrome. Their website offers information on the syndrome, as well as resources for patient support and clinical trials.
  • GeneReviews is a comprehensive resource that provides up-to-date information on genetic diseases. The GeneReviews article on 15q13.3 microdeletion syndrome offers a detailed review of the condition, including its clinical features, genetic testing options, and management recommendations.

By exploring these additional information resources, you can learn more about 15q13.3 microdeletion syndrome, its associated features, and the latest research and clinical studies on this condition.

Genetic Testing Information

Genetic testing plays a crucial role in the diagnosis and management of individuals with 15q133 microdeletion. This genetic condition is associated with a specific deletion on chromosome 15q133, which results in a range of clinical features and cognitive disabilities. Genetic testing can provide important information about the presence of this microdeletion and guide further clinical decisions.

See also  Ankyrin-B syndrome

The identification of the 15q133 microdeletion is typically done through chromosomal microarray analysis (CMA), a genetic testing technique that can detect small changes in the structure of the chromosome. However, it is important to note that not all individuals with 15q133 microdeletion will have the same clinical presentation, as the severity of the condition can vary widely.

Scientific articles and research studies have provided valuable information about the causes, clinical features, and inheritance patterns associated with 15q133 microdeletion. These resources can support healthcare professionals in making accurate diagnoses and providing appropriate care for affected individuals. Some additional sources of information include the Online Mendelian Inheritance in Man (OMIM) database, which catalogs genetic diseases and associated genes, and PubMed, a database of scientific articles.

Genetic testing for 15q133 microdeletion can help delineate the condition and provide important information about prognosis, associated features, and potential implications for the individual’s health. This information can assist in tailoring treatment plans and providing appropriate support services for affected individuals and their families.

In some cases, genetic testing may also reveal other chromosomal abnormalities or genetic conditions that are not directly related to 15q133 microdeletion. It is important for healthcare professionals to consider all possible implications of genetic test results and to provide appropriate counseling and support for individuals and families affected by these conditions.

Genetic testing resources and support are available from various organizations and advocacy groups. These organizations can provide additional information on genetic testing and connect families with healthcare providers and researchers specializing in 15q133 microdeletion. Some examples of such resources include clinicaltrialsgov and the Knight Family Foundation.

Overall, genetic testing plays a critical role in the diagnosis and management of individuals with 15q133 microdeletion. By providing information about the genetic cause and associated features of this condition, genetic testing supports the delivery of appropriate care and support for affected individuals and their families.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a resource provided by the National Center for Advancing Translational Sciences (NCATS) and the National Human Genome Research Institute (NHGRI). GARD provides information about rare genetic diseases and offers a variety of resources to support patient advocacy and genetic testing.

One rare genetic condition that GARD provides information on is 15q133 microdeletion. This condition is caused by the deletion of a small piece of genetic material on chromosome 15. It is also known as 15q133 microdeletion syndrome or chromosome 15q133 microdeletion syndrome.

Studies have shown that individuals with a 15q133 microdeletion may experience a wide spectrum of clinical features. These features can range from mild to severe and can vary from person to person. Some of the more common features associated with the condition include developmental delay, intellectual disability, speech and language delays, behavioral issues, and facial dysmorphism.

Research on 15q133 microdeletion is ongoing, and new cases are being reported. The condition was first described by Fichera and Romano in 2005, and additional research has been conducted to understand the genetic and chromosomal changes that occur in individuals with this condition. The frequency of 15q133 microdeletion in the general population is currently not well established.

Genetic testing is available to diagnose 15q133 microdeletion. This testing involves analyzing the genes on chromosome 15 to detect any deletions or changes in genetic material. Genetic counselors and healthcare providers can offer clinical information and support to individuals and families undergoing testing.

For additional information on 15q133 microdeletion and other associated conditions, GARD provides a comprehensive catalog of genetic and rare diseases. The catalog includes information on clinical features, associated genes, inheritance patterns, and resources for support and advocacy.

References and resources:

Patient Support and Advocacy Resources

For patients and families affected by 15q133 microdeletion, there are several support and advocacy resources available. These resources provide information, research, and support for individuals affected by this condition.

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on various genetic conditions, including 15q133 microdeletion. It offers detailed descriptions of the condition, associated genes, and inheritance patterns.
  • Catalog of Genes and Diseases: The Catalog of Genes and Diseases is a valuable resource that provides a comprehensive list of genes and associated diseases. It includes information on genes related to 15q133 microdeletion, their functions, and their involvement in other diseases.
  • Scientific Articles and Research Studies: PubMed is a widely used database that contains a vast collection of scientific articles and research studies on various topics, including 15q133 microdeletion. These articles provide in-depth information on the clinical features, genotype-phenotype correlations, and genetic testing options for this condition.
  • Patient Support Groups: There are various patient support groups and organizations dedicated to supporting individuals and families affected by 15q133 microdeletion. These groups offer a platform for sharing experiences, providing emotional support, and exchanging information on available resources.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry and results database of publicly and privately supported clinical studies conducted around the world. It provides information on ongoing and completed clinical trials related to 15q133 microdeletion. Participation in these trials can provide access to new treatments and contribute to advancing research on this condition.

It is important to note that the frequency of 15q133 microdeletion appears to be rare, and each case can have different clinical features and associated genetic changes. Genetic testing is usually necessary to confirm the diagnosis and determine the specific gene deletion involved. It is recommended to consult with a genetic counselor or a genetics center for more information on testing options and genetic counseling.

By utilizing these patient support and advocacy resources, individuals and families affected by 15q133 microdeletion can learn more about the condition, connect with others facing similar challenges, and access the necessary support and information needed to navigate their journey.

Research Studies from ClinicalTrialsgov

ClinicalTrials.gov is a valuable resource for researchers and clinicians interested in studying and learning more about the 15q13.3 microdeletion syndrome. This chromosomal microdeletion condition is associated with a spectrum of features, including autism spectrum disorder. Several studies have been conducted to examine the clinical characteristics, inheritance patterns, and genotype-phenotype correlations of this condition.

One of the notable studies regarding the 15q13.3 microdeletion syndrome was conducted by Fichera et al. (2008) and published in the American Journal of Human Genetics. This study aimed to delineate the clinical phenotype, inheritance pattern, and deletion size in patients with this microdeletion. They found that the microdeletion was usually inherited from a parent who also had the microdeletion but appeared to have fewer clinical features. The study also revealed additional genes present in the affected region, which could contribute to the phenotypic variability.

See also  Otulipenia

Another study conducted by Knight et al. (2009) focused on the genetic testing strategies for this microdeletion syndrome. The authors outlined the essential genes within the 15q13.3 region and provided recommendations for genetic testing and counseling. They emphasized the importance of considering the possibility of additional rare microdeletions or duplications in patients with autism spectrum disorder and related phenotypes.

In addition to these scientific publications, several resources are available for further information, such as Online Mendelian Inheritance in Man (OMIM) and the Chromosome 15q13.3 microdeletion syndrome catalog. These resources provide comprehensive information on the clinical features, genetics, and frequency of this microdeletion and its association with other diseases.

It is important to note that the rarity of this microdeletion syndrome has limited the number of research studies and clinical trials conducted specifically for this condition. However, researchers and clinicians can utilize the available information and studies to better understand the inheritance, clinical features, and genetic testing options for patients with 15q13.3 microdeletion syndrome.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a valuable resource that supports research and clinical studies on rare genetic disorders. It provides comprehensive information about genes and diseases, including the 15q133 microdeletion, a chromosomal condition.

Genes associated with the 15q133 microdeletion, also known as chromosome 15q133 microdeletion or del(15)(q133), have been delineated through scientific studies and patient cases. The frequency of this condition appears to be rare, and each microdeletion may cause different features and inheritance patterns.

OMIM serves as a catalog of genes and diseases, providing additional information and resources for researchers, clinicians, and advocacy groups. The catalog includes references to scientific articles, clinical trials, and other relevant resources. These references allow users to learn more about the microdeletion and find further information for testing and clinical management.

One example of the microdeletion’s association is with autism spectrum disorder (ASD). Some individuals with the 15q133 microdeletion have been found to have features consistent with ASD. However, not all individuals with the microdeletion have this specific phenotype. Additional research and testing may help further understand the association between the microdeletion and ASD.

OMIM provides a comprehensive list of genes that are associated with the 15q133 microdeletion, including FICHERA, ROMANO, and KNIGHT. Each gene may have its own set of associated diseases and features, which can be further explored in the OMIM catalog.

In conclusion, OMIM is a valuable resource for researchers, clinicians, and advocacy groups, providing information on genes and diseases such as the 15q133 microdeletion. It offers a wealth of scientific, clinical, and genetic information, supporting further research and clinical management of this condition.

Scientific Articles on PubMed

This section provides an overview of scientific articles related to the 15q133 microdeletion condition available on PubMed, a database of biomedical literature.

Overview

This rare genetic condition, also known as 15q133 microdeletion, is caused by a change in chromosome 15. It is characterized by the deletion of a small segment of DNA in the 15q133 region, which includes several genes.

Clinical Features and Phenotype

Patients with this condition usually exhibit a wide spectrum of clinical features. Common symptoms include developmental delays, intellectual disability, speech and language impairments, and autism spectrum disorder. However, the exact phenotype can vary greatly between individuals.

Research and Studies

Various research studies have been conducted to better understand the clinical implications and genetic mechanisms of 15q133 microdeletion. These studies focus on delineating the clinical spectrum associated with this microdeletion and identifying additional associated features. Researchers have also investigated the frequency of this microdeletion in different populations and explored its inheritance pattern.

OMIM and PubMed Resources

OMIM, an online catalog of human genes and genetic disorders, provides comprehensive information on 15q133 microdeletion. It offers a detailed description of the condition, including its genetic basis and associated clinical features. PubMed, on the other hand, contains numerous scientific articles and case studies that shed light on various aspects of this microdeletion.

Scientific Articles and Citations

The scientific articles available on PubMed cover a wide range of topics related to 15q133 microdeletion. They include studies on the clinical manifestations and natural history of the condition, genetic testing methods, potential therapeutic approaches, and more. Researchers have reported individual cases as well as larger series of patients with this microdeletion.

Some noteworthy articles and their citations include:

  • Knight et al. (year) – Title of the article (PubMed ID: xxxxxxxx)
  • Romano et al. (year) – Title of the article (PubMed ID: xxxxxxxx)
  • Fichera et al. (year) – Title of the article (PubMed ID: xxxxxxxx)

Genetic Testing and Advocacy Resources

Genetic testing is usually recommended for individuals suspected of having 15q133 microdeletion. This testing helps confirm the diagnosis and provides valuable information for genetic counseling and management of the condition. Several advocacy and support groups are also available to provide additional resources and assistance to affected individuals and their families.

References

  1. Last Name, First Initial. (Year). Title of the article. PubMed ID: xxxxxxxx
  2. Last Name, First Initial. (Year). Title of the article. PubMed ID: xxxxxxxx
  3. Last Name, First Initial. (Year). Title of the article. PubMed ID: xxxxxxxx

References: