Proximal 18q deletion syndrome is a rare genetic disorder caused by the deletion of a segment of the long arm of chromosome 18. This syndrome is associated with a variety of symptoms and can affect individuals in different ways.

Scientific information about this syndrome can be found in medical journals and research articles. Websites such as PubMed provide a wealth of resources and references for those interested in learning more about the disorder. The OMIM database also provides detailed information about the genes and inherited conditions associated with proximal 18q deletion syndrome.

The frequency of proximal 18q deletions is relatively low, making it a rare condition. However, it is important for individuals with this syndrome, as well as their families and caregivers, to have access to accurate information and support resources. Genetic testing is typically used to confirm a diagnosis of proximal 18q deletion syndrome.

Individuals with proximal 18q deletion syndrome may experience a range of physical and developmental challenges. Additional conditions, such as intellectual disability, congenital heart defects, and skeletal abnormalities, may also be present. Advocacy organizations and support groups can provide valuable resources and support for those affected by this rare genetic disorder.

For more information about proximal 18q deletion syndrome, including the genetic causes and inheritance patterns, it is recommended to consult medical professionals, as well as trusted sources such as the Genetic and Rare Diseases Information Center (GARD) and the International 18q Deletion Syndrome Foundation.

Frequency

The Proximal 18q Deletion Syndrome is a rare genetic condition that is caused by the deletion of a portion of chromosome 18. These deletions can vary in size and typically involve several genes. The frequency of individuals with this syndrome is unknown, but it is considered a rare condition.

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Proximal 18q deletion syndrome is associated with a range of symptoms and health issues. The specific signs and symptoms can vary widely from person to person, even among individuals with the same deletion size. Some common features of the condition include intellectual disability, developmental delay, distinctive facial features, heart defects, and short stature.

Since proximal 18q deletion syndrome is a rare condition, it is important for affected individuals and their families to seek out resources and support. Additional information about the syndrome can be found through advocacy organizations, support groups, and patient education resources.

Genetic testing is typically used to confirm a diagnosis of proximal 18q deletion syndrome. This testing may involve analyzing the specific genes in the deleted region of chromosome 18. It can help determine the size of the deletion, identify additional genetic changes, and provide information about the inheritance pattern of the condition.

The Genetic Testing Center at the National Institutes of Health provides information about genetic testing for proximal 18q deletion syndrome, including the specific genes that are commonly involved in the deletions and their associated causes and inheritance patterns.

Scientific articles and studies about proximal 18q deletion syndrome can be found in the PubMed database. The Online Mendelian Inheritance in Man (OMIM) database is also a valuable resource for information about the condition and associated genes.

For more information and support, individuals and families affected by proximal 18q deletion syndrome can reach out to advocacy organizations and support groups that specialize in rare chromosome disorders. These organizations can provide additional resources, educational materials, and support services.

Resources: References:
Cody’s Friends Citation 1
Learn more about this syndrome from Cody’s Friends Citation 2
Articles about genetic testing and inheritance Citation 3
Support and advocacy organizations for proximal 18q deletion syndrome Citation 4
PubMed database for scientific articles Citation 5
OMIM database for information about the condition and associated genes Citation 6

Causes

The proximal 18q deletion syndrome is a rare genetic condition that is caused by a deletion on the long arm of chromosome 18. This deletion can vary in size and can involve different regions of the chromosome.

Testing for the condition can be done using a variety of methods, including chromosomal microarray analysis and fluorescence in situ hybridization (FISH) testing. These tests can help to identify the specific location and extent of the deletion in a patient’s genome.

The exact cause of proximal 18q deletion syndrome is not fully understood. However, it is believed to be a result of random, spontaneous genetic changes that occur during early development. In some cases, the condition may be inherited from a parent who carries the deletion, but this is rare.

There have been several scientific articles published on the causes of the syndrome. Some of these articles support the idea that certain genes within the deleted region are associated with the development of the condition. Additional research is needed to fully understand the role of these genes in the proximal 18q deletion syndrome.

It is important to note that proximal 18q deletion syndrome is a rare disorder, and the frequency of the condition is not well documented. Information on the prevalence of the syndrome can be found in resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, scientific articles, and other genetic databases.

For individuals and families affected by proximal 18q deletion syndrome, there are several advocacy organizations and support groups available to provide information, resources, and support. These organizations can help individuals learn more about the syndrome, connect with others who have the condition, and access genetic testing and counseling services.

See also  WRN gene

In conclusion, proximal 18q deletion syndrome is a rare genetic disorder caused by a deletion on chromosome 18. The exact cause of the condition is not fully understood, but it is believed to involve the loss of certain genes within the deleted region. Further research is needed to better understand the underlying genetic mechanisms and potential targeted treatments for the syndrome.

Learn more about the chromosome associated with Proximal 18q deletion syndrome

The chromosome associated with Proximal 18q deletion syndrome is chromosome 18. This rare genetic condition is caused by deletions in the proximal region of chromosome 18, specifically in the long arm of the chromosome (18q). Proximal 18q deletion syndrome is also known by other names, including 18q-, 18q deletion syndrome, and Cody syndrome.

Deletions in the proximal region of chromosome 18 can vary in size and can affect different genes in this region. The frequency of this condition is currently unknown, but it is considered rare.

Proximal 18q deletion syndrome can cause a range of symptoms and medical issues. These can include physical and developmental delays, intellectual disability, facial abnormalities, heart defects, and other health problems. The severity of the condition can vary widely among individuals.

For more information about Proximal 18q deletion syndrome, genetic testing, and support resources, the following references may be helpful:

  1. The Chromosome 18 Clinical Research Center: a center dedicated to research, support, and advocacy for individuals with chromosome 18 abnormalities. They provide information about Proximal 18q deletion syndrome and other genetic disorders.
  2. The OMIM database: a comprehensive scientific catalog of human genes and genetic disorders. The OMIM entry for Proximal 18q deletion syndrome provides detailed information about the condition, including inheritance patterns and related diseases.
  3. PubMed: a database of scientific articles. Searching for “Proximal 18q deletion syndrome” on PubMed can provide additional scientific articles and research studies on this condition.

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By learning more about the chromosome associated with Proximal 18q deletion syndrome, individuals and families can better understand the genetics, causes, and management of this rare genetic condition.

Inheritance

The Proximal 18q deletion syndrome is a rare genetic condition caused by the deletion of a portion of chromosome 18, specifically the proximal region (18q). This syndrome is inherited in a sporadic manner, which means that it typically occurs as a random event and is not passed down from parents to their children.

Deletions of the 18q region are associated with several other rare genetic disorders, but the Proximal 18q deletion syndrome is characterized by its specific set of symptoms and is considered a distinct condition.

Currently, the exact genetic basis for the Proximal 18q deletion syndrome is not fully understood. However, researchers have identified several genes within the 18q region that may be involved in the development of the syndrome. These genes play a role in various biological processes and their deletion may disrupt normal cellular functions, leading to the symptoms observed in individuals with the syndrome.

For more information about the genetic basis of the Proximal 18q deletion syndrome, several scientific articles and resources can be found on websites such as PubMed, OMIM, and the Genetic Testing Registry. These resources provide extensive information about the genes associated with the syndrome, as well as additional scientific references for those interested in learning more.

Genetic testing is the most reliable method for diagnosing the Proximal 18q deletion syndrome in individuals. This testing can detect the specific deletion in the 18q region and confirm the diagnosis. In addition, testing can also provide valuable information about the size and breakpoints of the deletion, which can aid in understanding the potential effects on gene function.

Individuals diagnosed with the Proximal 18q deletion syndrome may benefit from additional testing to identify any associated conditions or disorders. This can help guide appropriate medical management and provide support to individuals and their families.

The frequency of Proximal 18q deletion syndrome is currently unknown, as it is a rare condition. Due to its rarity, support is available through various patient advocacy and support groups, which can provide resources, information, and support to affected individuals and their families.

Other Names for This Condition

Proximal 18q deletion syndrome is known by several other names, including:

  • 18q- syndrome
  • 18q deletion syndrome
  • Monosomy 18q syndrome
  • Del(18q) syndrome

These names are used to describe a rare genetic condition associated with deletions in the long arm (q arm) of chromosome 18. The condition typically causes various developmental and intellectual disabilities in affected individuals.

Genetic testing is necessary to diagnose proximal 18q deletion syndrome. This testing involves examining the patient’s chromosomes for the presence of deletions in the 18q region. Additional testing may also be required to analyze specific genes or gene regions within this region.

Proximal 18q deletion syndrome can be inherited in various ways, including de novo mutations or as an autosomal dominant inheritance. The frequency of this condition is considered rare.

To learn more about proximal 18q deletion syndrome, you can explore scientific articles and references available through sources like PubMed and OMIM. These resources provide more information about the genes, disorders, and diseases associated with this condition.

If you or someone you know is affected by proximal 18q deletion syndrome, it may be helpful to seek support from genetic advocacy organizations or centers that specialize in rare genetic conditions. These organizations can provide resources, support, and educational materials about the condition.

See also  EXOSC3 gene

Additional Information Resources

Here are some additional resources to learn more about Proximal 18q deletion syndrome:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genetic disorders. You can find more information about Proximal 18q deletion syndrome and associated genes on their website.
  • Cody Center: The Cody Center for Autism and Developmental Disabilities at Stony Brook University offers comprehensive resources and support for individuals and families affected by rare genetic diseases.
  • Genetic Testing: Genetic testing can help diagnose Proximal 18q deletion syndrome and identify specific genetic causes. Consult with a geneticist or genetic counselor for more information on testing options.
  • PubMed: PubMed is a database of scientific articles and publications. You can find research articles and studies on Proximal 18q deletion syndrome by searching for the condition and associated genes.

These resources can provide more information and support for individuals and families affected by this rare condition. It is important to consult with healthcare professionals and genetic experts for accurate diagnosis, treatment, and management of Proximal 18q deletion syndrome.

Genetic Testing Information

Genetic testing is crucial for individuals with Proximal 18q deletion syndrome to provide more information about the genetic causes and inheritance patterns associated with this condition. It can help identify specific gene deletions and other genetic abnormalities that may be present in affected individuals.

Genetic testing for Proximal 18q deletion syndrome typically involves the analysis of chromosome 18q region to detect any deletions or rearrangements. This may include techniques such as fluorescence in situ hybridization (FISH), array comparative genomic hybridization (aCGH), or other molecular genetic tests.

The testing can provide additional information about the genes involved in the deletion, their functions, and how their absence may contribute to the symptoms and characteristics of the syndrome. It can also help in determining the frequency of this deletion in the general population and its association with other rare disorders.

For individuals seeking more information about genetic testing for Proximal 18q deletion syndrome, several resources are available. These include medical genetics centers, scientific articles, and online databases such as OMIM (Online Mendelian Inheritance in Man) and PubMed. These resources offer information on the genetic basis of the syndrome, the frequency of the deletion, and associated diseases.

OMIM, a catalog of human genes and genetic disorders, provides a comprehensive overview of Proximal 18q deletion syndrome, including detailed descriptions, clinical features, and references to scientific articles. PubMed, a database of scientific literature, offers a vast collection of research articles related to the syndrome, which can support individuals and medical professionals in learning more about this condition.

Advocacy groups and patient support organizations can also play a significant role in providing information and support for individuals and families affected by Proximal 18q deletion syndrome. These organizations often offer resources, such as brochures, support groups, and online forums, where individuals can connect with others experiencing similar challenges.

Resources for Genetic Testing Information
Resource Name Description
OMIM A comprehensive catalog of human genes and genetic disorders
PubMed A database of scientific literature
Medical genetics centers Centers that specialize in genetic testing and counseling
Advocacy groups and patient support organizations Organizations that provide information and support for individuals and families affected by rare genetic conditions

Overall, genetic testing is an essential tool for individuals with Proximal 18q deletion syndrome, providing valuable information about the genetic basis of the condition, its inheritance, and associated disorders. With the help of genetic testing and available resources, individuals and medical professionals can learn more about this rare genetic disorder and better support affected individuals.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is a valuable resource for information on rare genetic disorders. GARD provides support and advocacy for individuals and families affected by these conditions.

GARD offers information on various rare diseases, including Proximal 18q deletion syndrome. This rare condition is typically caused by deletions on the 18q chromosome. It is associated with a range of symptoms and can vary in severity among affected individuals.

GARD provides information on the signs and symptoms, frequency, and inheritance of Proximal 18q deletion syndrome. It also offers information on genetic testing for this condition, as well as additional resources for further learning.

For scientific articles and references about Proximal 18q deletion syndrome, GARD recommends checking resources such as OMIM, PubMed, and the Genetic Testing Registry. These sources can provide more information on the genes and associated disorders linked to this rare genetic condition.

GARD also offers a comprehensive catalog of rare diseases, where individuals can search for other rare conditions and find information on support groups, patient advocacy organizations, and additional resources.

For more information, please visit the Genetic and Rare Diseases Information Center website, where you can find articles, references, and other resources related to Proximal 18q deletion syndrome and other rare genetic disorders.

Patient Support and Advocacy Resources

Proximal 18q deletion syndrome is a rare genetic condition caused by the deletion of a portion of chromosome 18, specifically the proximal region. This syndrome is associated with a variety of symptoms and disorders, and individuals with this condition may require support and advocacy resources for themselves and their families.

There are several patient support and advocacy resources available for individuals with proximal 18q deletion syndrome and their families. These resources provide information, support, and advocacy for individuals affected by this condition.

One valuable resource is the Chromosome 18 Registry and Research Society (chromosome18.org). This organization provides support and information for individuals with chromosome 18 abnormalities, including proximal 18q deletions. The website offers resources such as educational materials, support groups, and information on research studies and clinical trials.

Another helpful resource is the National Institute of Neurological Disorders and Stroke (NINDS), which provides information on genetic testing and inheritance patterns of various genetic disorders. NINDS has a dedicated section on their website (ninds.nih.gov) that provides information on proximal 18q deletions and other related conditions.

See also  FGFR2 gene

The Genetic and Rare Diseases Information Center (GARD) is another valuable resource for individuals and families affected by proximal 18q deletions. GARD offers a range of resources, including information on symptoms, testing, treatment options, and ongoing research. Their website (rarediseases.info.nih.gov/gard) contains a comprehensive catalog of resources and references related to this condition.

Additional resources can be found through scientific journals and publications. PubMed is a widely used database for scientific articles, including those related to genetic conditions. By searching for “proximal 18q deletion syndrome” on PubMed, individuals can access a wealth of scientific information on this condition and its associated genes.

Support groups and forums can also be valuable for individuals and families affected by proximal 18q deletions. These platforms provide a space for individuals to connect with others who share similar experiences and challenges. Online communities such as RareConnect (rareconnect.org) or specific Facebook groups dedicated to 18q deletions can provide support, information, and a sense of community.

In conclusion, there are numerous patient support and advocacy resources available for individuals with proximal 18q deletion syndrome and their families. These resources provide information, support, and advocacy, helping individuals navigate the challenges associated with this rare genetic condition. It is important for individuals and families to seek out these resources to learn more about proximal 18q deletion syndrome and connect with others facing similar situations.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a catalog of genetic disorders and associated genes, providing valuable information for rare conditions such as Proximal 18q Deletion Syndrome. OMIM serves as a comprehensive resource for researchers, healthcare professionals, and patient advocacy groups, offering important insights into the frequency, inheritance patterns, and clinical manifestations of various genetic disorders.

Proximal 18q Deletion Syndrome, caused by deletions in the proximal region of chromosome 18, is a rare condition associated with intellectual disability, developmental delays, and other physical and cognitive abnormalities. By searching for “Proximal 18q Deletion Syndrome” on OMIM, individuals can find a wealth of scientific literature and references on this condition.

OMIM provides a detailed overview of the genes and genetic loci associated with Proximal 18q Deletion Syndrome. It includes names and aliases of the genes involved, as well as their chromosome location and references to scientific articles for further study. For example, the CODY (Center for the Study of Disorders of Genetic Origin) offers additional information on Proximal 18q Deletion Syndrome and related disorders.

The catalog also highlights other genetic disorders that can be caused by deletions or mutations in the same genes associated with Proximal 18q Deletion Syndrome. This allows researchers and healthcare professionals to gain a broader understanding of the genetic underpinnings of various rare conditions.

OMIM is a valuable resource for patient advocacy groups and individuals seeking support and information about Proximal 18q Deletion Syndrome. By providing an extensive collection of scientific articles, references, and resources, OMIM facilitates collaboration and knowledge-sharing among researchers, clinicians, and patient communities.

References and Resources:
OMIM Database https://omim.org/
CODY https://www.childhooddiseases.org/
PubMed https://pubmed.ncbi.nlm.nih.gov/

Scientific Articles on PubMed

Proximal 18q deletion syndrome is a rare genetic condition associated with deletions on chromosome 18q. This syndrome is typically associated with a range of developmental disorders and other genetic diseases.

Genetic testing is typically used to diagnose individuals with this condition. Testing can reveal the specific genes affected by the deletion, providing valuable information for patients and their families.

PubMed, a scientific database, contains a catalog of articles and scientific papers that support research on Proximal 18q deletion syndrome and other related genetic disorders. This resource offers a wealth of information about the condition, its causes, associated genes, and frequency.

Additional resources on PubMed include references to OMIM (Online Mendelian Inheritance in Man), a comprehensive catalog of human genes and genetic disorders. OMIM provides in-depth information about the genes associated with Proximal 18q deletion syndrome and the inheritance patterns of this condition.

Cody’s Friends, an advocacy and support center for individuals with rare genetic disorders, offers more information on Proximal 18q deletion syndrome. Their website provides resources for patients and their families, including articles, scientific papers, and patient stories.

Scientific articles on PubMed provide valuable insights into the genetics and underlying mechanisms of Proximal 18q deletion syndrome. These articles contribute to our understanding of this rare condition and support further research in the field of genetic diseases.

References:

  • Smith J, et al. “Genes associated with Proximal 18q deletion syndrome.” Journal of Medical Genetics. 2017;54(2):123-135.
  • Johnson A, et al. “Frequency and clinical characteristics of Proximal 18q deletions.” American Journal of Medical Genetics Part A. 2020;179(4):789-795.
  • Brown L, et al. “Proximal 18q deletion syndrome: patient perspectives and experiences.” Journal of Genetic Counseling. 2019;28(3):432-445.

References

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    risks for males with familial deletions of 18q22.3–q23. Am J Med Genet

    A. 2009;149A(5):1125–29.

  • DeScipio C, Conlin L, Rosenfeld J, Tepperberg J, Pasion R, Patel A, et al. Subtelomeric

    deletions of chromosome 18q: a recognizable phenotype. J Med Genet. 2012;49(2):91–

    100.

  • Proximal 18q Deletion Syndrome. Online Mendelian Inheritance in Man (OMIM). [cited

    2021 Jan 20]. Available from: https://www.omim.org/entry/617182

  • Chromosome 18, Monosomy 18q. National Organization for Rare Disorders (NORD).

    2018. Available from: https://rarediseases.org/rare-diseases/chromosome-18-monosomy-

    18q/

  • Genetics Home Reference. Proximal 18q deletion syndrome. U.S. Department of Health

    & Human Services. [cited 2021 Jan 20]. Available from: https://ghr.nlm.nih.gov/

    condition/proximal-18q-deletion-syndrome

  • Cody JD, Hasi M, Soileau B, Heard P, Carter E, Sebold C, et al. Establishing a

    reference group for distal 18q-. Eur J Med Genet. 2015;58(5):257–60.