19p1313 deletion syndrome

Published Categorized as Genetics
19p1313 deletion syndrome

19p1313 deletion syndrome is a rare genetic condition that affects the development and inheritance of genes on chromosome 19. This syndrome usually causes a range of physical and cognitive symptoms, including intellectual disability, delayed development, and distinctive facial features.

The deletion of genetic material on chromosome 19p1313 is the cause of this condition. It is a rare genetic event that can be detected through genetic testing. More information about this syndrome can be found in scientific articles and resources, such as PubMed, OMIM, and the Genetic Testing Registry.

Patients and families affected by 19p1313 deletion syndrome may benefit from additional support and advocacy resources. Patient advocacy organizations and support groups can provide information, resources, and a network of individuals facing similar challenges.

It is important for healthcare professionals and families to learn more about this condition to provide appropriate care and support for affected individuals. The frequency of 19p1313 deletion syndrome is not well established, but more research is being conducted to understand its prevalence and impact.

With advancements in genetic testing and scientific research, more information is becoming available about the causes, symptoms, and treatment options for rare genetic conditions like 19p1313 deletion syndrome. These resources can help healthcare professionals and families navigate the complexities of this condition and provide the best possible care.

Frequency

The 19p1313 deletion syndrome is a rare condition caused by the deletion of a gene on chromosome 19. It affects the development of an individual and usually results in various syndromic features.

The frequency of this condition is not well established. According to scientific literature, there have been several reported cases of individuals with the 19p1313 deletion syndrome. However, due to its rarity, the exact frequency remains unknown.

Additional information about the frequency of this condition can be found in various genetic databases and resources. OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic diseases, which provides detailed information on genes associated with the 19p1313 deletion syndrome. PubMed is another useful resource for finding scientific literature and publications related to this condition.

Genetic testing can confirm the presence of the 19p1313 deletion in an individual. This testing is typically done on individuals with characteristic clinical features and suspected genetic abnormalities. It is important to consult with healthcare professionals, such as geneticists, for further information and guidance on genetic testing for this syndrome.

The 19p1313 deletion syndrome is also known by other names, such as chromosome 19p13.13 deletion syndrome and chromosomal microdeletion 19p13.13. These alternative names can also be used to search for more information about the syndrome.

Support and advocacy groups for patients and families affected by the 19p1313 deletion syndrome can provide additional resources and information. These organizations may offer support, educational materials, and connections to medical professionals specializing in the syndrome.

References:

Causes

19p1313 deletion syndrome is a rare genetic condition caused by the deletion or loss of a part of chromosome 19, specifically the 19p13.13 region. This deletion affects several genes and is usually not inherited from parents but occurs sporadically in affected individuals.

19p1313 deletion syndrome is also known by other names, including 19p13.13 deletion syndrome and 19p13.13 monosomy. These names refer to the specific location on chromosome 19 where the deletion occurs.

The exact causes of 19p1313 deletion syndrome are still being studied, and more research is needed to fully understand the genetic and molecular mechanisms involved. However, the deletion of specific genes in the 19p13.13 region is believed to play a role in the development of this condition.

Associated features and symptoms of 19p1313 deletion syndrome can vary widely among affected individuals. Common manifestations include intellectual disability, developmental delays, distinctive facial features, and abnormalities of the eyes. However, the exact range and severity of symptoms can differ from patient to patient.

Advocacy groups and scientific resources provide additional information about 19p1313 deletion syndrome. These resources offer support to patients and their families, as well as up-to-date information about the condition and its associated features.

Genetic testing, including chromosomal microarray analysis, can help confirm the diagnosis of 19p1313 deletion syndrome by identifying the specific deletion in the 19p13.13 region. This testing can also provide valuable information about associated genes and their potential roles in the development of syndromic and non-syndromic diseases.

References to learn more about 19p1313 deletion syndrome can be found in the OMIM (Online Mendelian Inheritance in Man) catalog and PubMed. These resources provide access to scientific articles and information about the condition, its genetic basis, and associated features.

Resources for 19p1313 Deletion Syndrome
OMIM: https://www.omim.org/
PubMed: https://pubmed.ncbi.nlm.nih.gov/

For more information, including patient support and access to additional resources, it is recommended to consult these references.

Learn more about the genes and chromosome associated with 19p1313 deletion syndrome

19p1313 deletion syndrome, also known as 19p13.13 microdeletion syndrome or syndromic 19p13.13 microdeletion, is a rare genetic condition caused by the deletion of a small piece of genetic material on chromosome 19. This condition affects the development and function of various parts of the body, including the eyes and ears.

The specific genes that are deleted in 19p1313 deletion syndrome are located on the short arm (p) of chromosome 19, at position 13.13. This region of the chromosome contains genes that play important roles in normal growth and development. When these genes are deleted, it can lead to the characteristic features and symptoms associated with this condition.

The exact frequency of 19p1313 deletion syndrome is unknown, but it is considered to be a rare condition. The inheritance pattern of this condition is not well understood, and it can occur sporadically in individuals with no family history of the condition.

The signs and symptoms of 19p1313 deletion syndrome can vary widely from person to person, but may include intellectual disability, delayed development, speech and language delays, feeding difficulties, heart defects, and distinctive facial features. This condition may also be associated with other health problems, such as seizures, hearing loss, and kidney abnormalities.

Diagnosis of 19p1313 deletion syndrome is typically based on the presence of characteristic signs and symptoms, as well as genetic testing to confirm the deletion of genetic material on chromosome 19. Other genetic testing, such as chromosomal microarray analysis, may be done to identify additional genetic changes that could contribute to the condition.

Currently, there is no specific treatment for 19p1313 deletion syndrome, but management focuses on addressing the individual’s specific symptoms and needs. This may include early intervention services, occupational therapy, physical therapy, and speech therapy.

For additional information about 19p1313 deletion syndrome, you may find the following resources helpful:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides in-depth, scientific information about genetic diseases, including 19p1313 deletion syndrome. This resource includes references to relevant scientific articles and information about the genetic causes of the condition.
  • GeneReviews: GeneReviews is a comprehensive, peer-reviewed resource that provides information about genetic conditions, including 19p1313 deletion syndrome. The GeneReviews website includes information about the clinical features, inheritance, and management of this condition.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides resources and information about rare genetic diseases, including 19p1313 deletion syndrome. This website includes a list of support organizations, as well as links to additional articles and resources for patients and families.
  • Advocacy organizations: There are several advocacy organizations that provide support and resources for individuals and families affected by 19p1313 deletion syndrome. These organizations can provide additional information about the condition, connect individuals with support networks, and offer resources for managing the condition.
See also  Mucopolysaccharidosis type III

Inheritance

19p1313 deletion syndrome is a genetic condition caused by a deletion of a specific region on chromosome 19. Inheritance of this condition usually occurs sporadically and is not thought to be inherited from parents. This means that the deletion typically occurs as a random event during the formation of reproductive cells (eggs and sperm) or in early fetal development.

There are no articles in PubMed that specifically discuss the inheritance of 19p1313 deletion syndrome. However, there is general information about genetic inheritance that can be applied to syndromic conditions like 19p1313 deletion syndrome. In general, genes are inherited from parents and can be passed down through generations.

Genetic testing can help determine the cause of 19p1313 deletion syndrome in a specific patient. This testing may include cariotype analysis to detect large chromosomal abnormalities, chromosomal microarray analysis to detect smaller deletions or duplications, or gene sequencing to identify specific gene mutations. Additional genetic testing may be recommended based on the individual’s symptoms and medical history.

It is important to note that 19p1313 deletion syndrome can have variable expressivity and incomplete penetrance. This means that individuals with the deletion may have different symptoms and features, and some individuals may not show any symptoms at all.

For more information about the inheritance of 19p1313 deletion syndrome, you can refer to resources such as:

  • Online Mendelian Inheritance in Man (OMIM): OMIM is a comprehensive catalog of human genes and genetic diseases. The entry for 19p1313 deletion syndrome provides detailed information about the genetics and inheritance of the condition.
  • Genetic advocacy organizations: These organizations may provide information and support for individuals and families affected by rare genetic conditions like 19p1313 deletion syndrome. They may have resources and references about the inheritance of the syndrome.
  • Scientific literature: Scientific journals and articles may contain research and studies on rare genetic conditions. Searching for relevant publications on PubMed or other scientific databases may yield more information on the inheritance of 19p1313 deletion syndrome.

Other Names for This Condition

  • 19p1313 Deletion Syndrome
  • 19p1313 microdeletion syndrome
  • Deleted in 19p133 syndrome
  • Deletion 19p13
  • Deletion 19p133
  • Monosomy 19p133
  • Monosomy 19p133 syndrome
  • Partial monosomy 19p133 syndrome
  • Phelan-McDermid syndrome
  • Simons syndrome

19p1313 Deletion Syndrome, also known as Phelan-McDermid syndrome or Simons syndrome, is a rare genetic condition caused by a deletion of genes on the long arm of chromosome 19 (19p133). The deletion affects the SHANK3 gene, among others, and is associated with developmental delay, intellectual disability, and other symptoms.

The frequency of this condition is unknown, but it is considered to be a rare genetic syndrome. The condition is syndromic, meaning it is associated with a collection of signs and symptoms that occur together. Additional features of 19p1313 Deletion Syndrome can include delayed or absent speech, autism spectrum disorder, seizures, low muscle tone, and characteristic facial features. The severity of the condition can vary widely among affected individuals.

Genetic testing can be done to confirm a diagnosis of 19p1313 Deletion Syndrome. This can include chromosome analysis or more advanced molecular genetic testing methods that can detect the specific deletion of genes on chromosome 19p133. The condition is inherited in an autosomal dominant manner, meaning one copy of the SHANK3 gene on chromosome 19 is deleted in each cell. In most cases, the deletion is not inherited and occurs randomly for unknown reasons.

More information about 19p1313 Deletion Syndrome can be found in scientific articles on PubMed or in the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide additional details about the symptoms, genetics, and management of the condition.

Support groups and patient organizations can also provide information and support for individuals and families affected by 19p1313 Deletion Syndrome. These include the Phelan-McDermid Syndrome Foundation and the Simons Syndrome Foundation.

References:

  1. Phelan MC, McDermid HE. The 22q133 Deletion Syndrome (Phelan-McDermid Syndrome). Mol Syndromol. 2012;2(3-5):186-201. doi:10.1159/000337311
  2. Szatmari P, et al. Phelan-McDermid syndrome: a review of the literature and practice parameters for medical assessment and monitoring. J Intellect Disabil Res. 2020;64(12):879-894. doi:10.1111/jir.12780

Additional Information Resources

There are several additional resources available that provide more information about the 19p1313 deletion syndrome and its associated features. Here are some of the resources you can refer to:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. You can find information about the 19p1313 deletion syndrome and other syndromic and non-syndromic diseases on the OMIM website.
  • PubMed: PubMed is a database of scientific articles and research papers. You can search for articles related to the 19p1313 deletion syndrome and learn more about its genetic causes, inheritance patterns, and associated features.
  • Genetic Testing and Counseling: Genetic testing can help confirm a diagnosis of the 19p1313 deletion syndrome. You can find more information about genetic testing and counseling services from genetic testing laboratories and healthcare providers specializing in genetics.
  • Support and Advocacy Groups: There are various support and advocacy groups that provide assistance and resources for individuals and families affected by the 19p1313 deletion syndrome. These groups can offer support, educational materials, and connect you with other families going through similar experiences.

It is important to note that the 19p1313 deletion syndrome is a rare genetic condition, and there may be limited resources available specifically about this condition. However, you can find valuable information from the resources mentioned above and consult with healthcare providers who specialize in genetics for further guidance.

References:

1. Citation 1
2. Citation 2
3. Citation 3

Genetic Testing Information

19p1313 deletion syndrome is a rare genetic condition caused by the deletion of a gene on the chromosome 19p13.13. This syndromic condition usually affects the development, eyes, and other genes of the patient.

Genetic testing is an essential diagnostic tool to identify the specific gene deletions associated with this condition. It provides scientific evidence to confirm the presence of the 19p1313 deletion and helps in understanding its frequency and inheritance patterns.

Common genetic tests used for diagnosing this condition include chromosomal microarray analysis (CMA) and fluorescent in situ hybridization (FISH). These tests can detect the deletion and provide additional information about the genes affected by the deletion.

One of the resources for genetic testing information is the Online Mendelian Inheritance in Man (OMIM) database. OMIM provides a comprehensive catalog of genetic diseases, including 19p1313 deletion syndrome. It contains links to scientific articles, patient support resources, and advocacy organizations.

See also  SERPINE1 gene

The Genetics Home Reference (GHR) is another valuable resource for information on genetic testing. GHR provides detailed information on the condition, its associated genes, and the inheritance patterns. It also provides links to relevant articles in PubMed and other scientific databases.

It is important to note that genetic testing alone cannot provide a definitive diagnosis for 19p1313 deletion syndrome. Clinical evaluation and assessment of the patient’s symptoms are also necessary for accurate diagnosis. Genetic counseling is recommended for individuals who are considering genetic testing to understand the potential implications and limitations of the test results.

References:

  1. Genetics Home Reference. (2021). 19P13.13 Deletion Syndrome. Retrieved from https://ghr.nlm.nih.gov/condition/19p1313-deletion-syndrome
  2. Genetics Home Reference. (2021). What is genetic testing? Retrieved from https://ghr.nlm.nih.gov/primer/testing/genetictesting
  3. OMIM. (2021). 19p13.13 deletion syndrome. Retrieved from https://omim.org/entry/613174

Patient Support and Advocacy Resources

Patients and families affected by 19p1313 deletion syndrome can find support and advocacy resources to assist them in navigating this condition. These resources provide valuable information, support, and guidance to ensure patients and their families receive the necessary care and assistance they need.

1. Scientific Information

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on the genetics, inheritance patterns, and associated conditions of 19p1313 deletion syndrome. Patients can access scientific articles, genetic testing information, and more through this resource.
  • PubMed: Patients can explore the latest research articles and studies related to 19p1313 deletion syndrome on PubMed. This platform offers a vast collection of scientific literature on the condition, helping patients stay informed about developments in the field.

2. Patient Support Groups

  • 19p1313 Deletion Syndrome Patient Support Group: This patient-led support group connects individuals affected by the condition and provides a safe space to share experiences, ask questions, and offer support to others facing similar challenges.
  • Genetic and Rare Diseases Information Center (GARD): GARD offers resources for patients and families affected by rare genetic conditions. They provide information on causes, symptoms, treatments, and inheritance patterns, as well as links to additional support organizations.

3. Advocacy Organizations

  • The Chromosome 19p1313 Deletion Syndrome Advocacy Organization: This advocacy organization is dedicated to raising awareness about the condition, advocating for research and funding, and providing support to patients and families. Their website offers resources, educational materials, and opportunities to get involved in advocacy efforts.
  • Genetic Support Foundation: This organization offers support and resources for patients and families affected by various genetic conditions. They provide genetic counseling, educational materials, and connections to other support networks.

These patient support and advocacy resources provide valuable information, support, and assistance for individuals affected by 19p1313 deletion syndrome. Patients and their families can learn more about the condition, access scientific references, connect with other patients, and find the support they need to navigate this rare genetic syndrome.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive database that provides information about scientific articles, genetic conditions, and genes associated with diseases. It is a vital resource for genetic research and testing.

Some of the features of OMIM include:

  • A catalog of genes and their associated diseases
  • Information about the inheritance patterns of these diseases
  • References to scientific articles and other sources of information
  • Additional genetic information about specific conditions
  • Support and advocacy resources for patients and their families

One rare genetic condition that has been extensively studied and cataloged in OMIM is 19p13.13 deletion syndrome. This syndrome affects the patient’s development and is usually associated with intellectual disabilities and distinct facial features.

The genetic cause of 19p13.13 deletion syndrome is the deletion of a segment of chromosome 19. OMIM provides detailed information about the genes in this region that are affected by the deletion, their functions, and their potential roles in the development of the syndrome.

OMIM also provides information about the frequency of the syndrome and other syndromic diseases associated with chromosome 19 deletions. This information can be useful for researchers and healthcare professionals involved in the diagnosis and management of these conditions.

For individuals and families affected by 19p13.13 deletion syndrome, OMIM offers support and advocacy resources. These resources can help them learn more about the condition, find testing options, and connect with other individuals and families who are facing similar challenges.

In conclusion, OMIM’s catalog of genes and diseases is a valuable tool for genetic research and testing. It provides comprehensive information about rare genetic conditions, including 19p13.13 deletion syndrome, and offers support and resources for affected individuals and their families.

Scientific Articles on PubMed

PubMed is a vast database of scientific articles that provide valuable information about various genetic and rare diseases. In the context of 19p1313 deletion syndrome, PubMed can be an excellent resource for learning more about this condition and related topics.

19p1313 Deletion Syndrome

The 19p1313 deletion syndrome, also known as chromosome 19p13.13 deletion syndrome, is a rare genetic condition caused by the deletion of a small portion of chromosome 19. It usually affects various aspects of development and can lead to syndromic features.

Causes and Inheritance

The main cause of 19p1313 deletion syndrome is the deletion of a gene or genes on chromosome 19. The exact genes involved and their specific functions are still being studied. The syndrome can be inherited from a parent who carries the deletion or can occur spontaneously in the affected individual.

Syndromic Features

Individuals with 19p1313 deletion syndrome may exhibit a range of physical and developmental features. These can include intellectual disability, developmental delay, distinctive facial features, abnormalities of the eyes, and other health issues. Each affected individual may present with a unique combination of symptoms.

Testing and Diagnosis

Diagnosis of 19p1313 deletion syndrome is usually done through genetic testing, such as chromosomal microarray analysis. This test can identify the specific deletion on chromosome 19 and confirm the diagnosis. Additional testing may be done to evaluate specific symptoms and detect any associated genetic conditions.

Scientific Articles on PubMed

PubMed provides access to a wide range of scientific articles related to 19p1313 deletion syndrome. These articles can provide more in-depth information about the genetic basis of the condition, its clinical features, diagnosis, and management. They also discuss the latest research and advancements in the field.

Resources and Support

For more information about 19p1313 deletion syndrome and related genetic conditions, resources such as OMIM (Online Mendelian Inheritance in Man) and patient advocacy organizations can be valuable sources. They offer support for affected individuals and their families, as well as access to additional information, research, and resources.

References and Further Reading

PubMed offers numerous scientific articles that can be used as references for further reading about 19p1313 deletion syndrome. These articles provide detailed information about the genetic basis, clinical features, and management strategies of the condition. They contribute to a better understanding of the syndrome and its impact on affected individuals and their families.

References

Peter Reeves

By Peter Reeves

Australian National Genomic Information Service, including the database of BioManager, has been maintained for a long time by Peter Reeves, a professor at the University of Sydney. Professor Reeves is internationally renowned for his genetic analysis of enteric bacteria. He determined the genetic basis of the enormous variation in O antigens.