17q12 duplication

Published Categorized as Genetics
17q12 duplication

17q12 duplication is a chromosomal condition that causes extra genetic material to be copied onto chromosome 17. This condition is associated with a variety of clinical features and can affect individuals in different ways. The frequency of this duplication in the general population is relatively low, but it has been identified in individuals with a range of clinical symptoms.

The 17q12 duplication syndrome has been studied extensively, and scientific resources such as OMIM and PubMed provide additional information on the condition. These resources offer information on the genes associated with the syndrome, the clinical features observed in affected individuals, and the inheritance patterns of the condition.

To learn more about the 17q12 duplication syndrome, individuals can consult resources like the Genetic Testing Registry, which provides information on genetic testing options for this condition. ClinicalTrials.gov may also provide information on ongoing research and clinical trials related to the 17q12 duplication syndrome.

In addition to these resources, genetic counseling and testing can provide individuals with more information about the specific genetic rearrangement associated with the 17q12 duplication syndrome, as well as additional resources for support and advocacy.

The 17q12 duplication syndrome is a complex condition that requires specialized skills and knowledge to diagnose and manage. By staying informed with the latest scientific articles, staying connected with advocacy groups and support communities, and seeking appropriate medical testing and care, individuals with the 17q12 duplication syndrome can better understand their condition and access resources for further support.

Frequency

The 17q12 duplication is a chromosomal rearrangement that has been associated with several genetic disorders. It is a relatively rare condition, with an estimated frequency of about 1 in 40,000 individuals.

The 17q12 duplication can cause a variety of clinical features, depending on the genes involved and the size of the duplication. Some names for the condition associated with 17q12 duplication include Potocki-Lupski syndrome, dup(17)(q12), and chromosome 17q12 duplication syndrome.

The frequency of the 17q12 duplication has been determined through genetic testing and clinical studies. Additional research and testing are needed to fully understand the frequency and clinical implications of this chromosomal rearrangement.

For more information about the 17q12 duplication and related diseases, the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed are valuable resources. These databases provide scientific articles, clinical studies, and genetic information about the genes and syndrome associated with the 17q12 duplication.

Advocacy and support groups for individuals with the 17q12 duplication can also provide additional information and resources about the frequency, inheritance, and clinical features of this condition. ClinicalTrials.gov is another valuable resource for finding ongoing research studies and clinical trials related to the 17q12 duplication.

In conclusion, the 17q12 duplication is a rare chromosomal rearrangement associated with several genetic disorders. The frequency of this duplication has been estimated to be about 1 in 40,000 individuals. More research and testing are needed to fully understand the clinical implications and genetic causes of the 17q12 duplication.

Causes

The 17q12 duplication syndrome is caused by a rearrangement of genetic material on chromosome 17q12. This condition is associated with a duplication of a specific region on this chromosome.

Scientific information about the 17q12 duplication syndrome can be found in various resources, such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed. These sources provide clinical and research articles about the syndrome and other related studies.

Individuals with the 17q12 duplication syndrome have an extra copy of certain genes in the duplicated region of chromosome 17. This duplication can lead to a variety of physical and clinical characteristics associated with the syndrome.

Genetic testing can be used to detect the presence of the 17q12 duplication and provide more information about the specific genes involved. This testing can also help determine the frequency of this chromosome rearrangement in the general population and its inheritance patterns.

Additional resources and support for individuals with the 17q12 duplication syndrome can be found through various advocacy groups and clinical trial databases, such as ClinicalTrials.gov. These resources can provide further information about genetic testing, related diseases, and available clinical studies.

For more information about the causes of the 17q12 duplication syndrome, references and citations to relevant scientific articles can be found in the OMIM catalog and PubMed.

Learn more about the chromosome associated with 17q12 duplication

The 17q12 duplication is a chromosome rearrangement that has been associated with various medical conditions. The duplication occurs on the long arm of chromosome 17, specifically at position q12. This region contains several genes, and the duplication can result in changes in their dosage, leading to different clinical features.

The 17q12 duplication has been linked to a variety of clinical syndromes and conditions. These include renal abnormalities, neurodevelopmental delays, intellectual disabilities, autism spectrum disorders, and epilepsy, among others. The specific features and severity of the condition can vary among affected individuals.

Scientific research and clinical studies have provided valuable information about the 17q12 duplication and its associated conditions. Various articles and studies have been published on this topic, and resources such as PubMed and OMIM provide references to these publications.

Genetic testing is often used to diagnose the 17q12 duplication. This testing can identify the specific rearrangement on chromosome 17 and determine if a patient has an extra copy of the region. Information about genetic testing for 17q12 duplication can be found on websites such as ClinicalTrials.gov and in medical literature.

Genetic counseling and support services are available for individuals and families affected by the 17q12 duplication. These services can provide additional information about the condition, its inheritance pattern, and available resources for patients and caregivers.

It is important to note that the 17q12 duplication is just one of many chromosomal rearrangements that can cause genetic diseases or syndromes. Each duplication or rearrangement affects different genes and can lead to distinct clinical features. Therefore, it is essential to consult with medical professionals and genetic experts to understand the specific implications of a 17q12 duplication in an individual case.

Overall, learning more about the 17q12 duplication can provide important insights into the associated conditions and help support individuals and families affected by this chromosomal rearrangement.

Inheritance

17q12 duplication syndrome is a genetic condition caused by duplications on chromosome 17q12. These duplications affect certain genes in the region and can lead to a variety of symptoms and health issues.

Most cases of 17q12 duplication syndrome occur sporadically, meaning they are not inherited from a parent. However, in some cases, the duplication can be inherited from a parent who carries the genetic rearrangement.

Information about the inheritance pattern of 17q12 duplication syndrome is still being studied. Many individuals with this condition have had chromosomal testing done to determine the presence of the duplication in their DNA.

See also  Sheldon-Hall syndrome

Advocacy groups, such as OMIM, provide resources and support for individuals and families affected by 17q12 duplication syndrome. These organizations often have information about the condition, genetic testing, and opportunities to participate in research studies.

ClinicalTrials.gov is a valuable resource for finding ongoing research studies related to 17q12 duplication syndrome. These studies can provide additional information about the condition and may offer opportunities for individuals to participate in research that could lead to further understanding and treatment options.

It is important for individuals affected by 17q12 duplication syndrome to seek information and support from experts in the field. Genetic counselors, medical geneticists, and other healthcare professionals with knowledge and skills in this area can provide guidance, information, and support to patients and their families.

References:

Other Names for This Condition

  • 17q12 duplication syndrome
  • 17q12 duplication
  • 17q12 chromosomal duplication
  • 17q12 rearrangement
  • Chromosome 17q12 duplication
  • 17q12 microduplication
  • Duplications of chromosome 17q12
  • Extra copy of chromosome 17q12

Other names for 17q12 duplication syndrome, also known as 17q12 duplication or 17q12 chromosomal duplication, include 17q12 rearrangement, Chromosome 17q12 duplication, 17q12 microduplication, Duplications of chromosome 17q12, and Extra copy of chromosome 17q12. These various names are used to describe the same genetic condition characterized by duplications of chromosome 17q12.

Individuals with 17q12 duplication syndrome may exhibit a range of clinical features, and additional related genes on chromosome 17q12 may contribute to the variability in symptoms experienced by affected individuals.

Clinical testing, such as chromosomal microarray testing, can identify this chromosomal rearrangement, while genetic testing can provide information about the specific genes that have been duplicated. Genetic counseling can help individuals and their families understand the inheritance pattern and risks associated with this condition.

Research studies and scientific articles can provide more information about the genetic causes, physical characteristics, associated diseases, and frequency of 17q12 duplication syndrome. Additional support and advocacy organizations can also provide resources and information for patients and families to learn more about this condition and access relevant support services.

References:

  1. “17q12 Duplication Syndrome.” Genetics Home Reference, U.S. National Library of Medicine, ghr.nlm.nih.gov/condition/17q12-duplication-syndrome.
  2. “17q12 Duplication Syndrome.” Online Mendelian Inheritance in Man, Johns Hopkins University, omim.org/entry/614527.
  3. “17q12 duplication syndrome.” Orphanet, orpha.net/consor/cgi-bin/OC_Exp.php?lng=EN&Expert=363916.
  4. “17q12 duplication syndrome.” National Organization for Rare Disorders (NORD), rarediseases.org/rare-diseases/17q12-duplication-syndrome/.
  5. “17q12 Duplication Syndrome.” PubMed, U.S. National Library of Medicine, pubmed.ncbi.nlm.nih.gov/?term=17q12+duplications.
  6. “17q12 Duplication Syndrome.” ClinicalTrials.gov, U.S. National Library of Medicine, clinicaltrials.gov/ct2/results?cond=17q12+duplications.

Additional Information Resources

Here is a list of additional resources where you can find more information about the 17q12 duplication condition:

  • OMIM: OMIM is a comprehensive catalog of genes and genetic disorders. You can search for the 17q12 duplication syndrome in OMIM to find more information about the genes involved, associated diseases, and inheritance patterns.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database of clinical studies. You can find ongoing or completed clinical trials related to the 17q12 duplication syndrome, which may offer testing or other support for affected individuals.
  • PubMed: PubMed is a database of scientific articles. You can search for articles about the 17q12 duplication syndrome to learn more about the condition, its causes, associated diseases, and more.
  • Genetic and Rare Diseases Information Center (GARD): GARD provides information about genetic and rare diseases, including the 17q12 duplication. You can access articles, resources, and support services through their website.
  • Genetic Testing Registry: The Genetic Testing Registry provides information about genetic tests for the 17q12 duplication syndrome. You can find details about available tests, laboratories, and related resources.
  • Chromosome 17q12 Duplication Syndrome Advocacy and Support Groups: Joining advocacy and support groups can provide you with additional information and support. These groups often have websites, forums, and resources available for individuals and families affected by the 17q12 duplication syndrome.

These resources can help you learn more about the 17q12 duplication condition and connect with others who are affected by it. They provide scientific and clinical information, as well as support services for individuals and their families.

Genetic Testing Information

Genetic testing is a valuable tool for understanding the causes and inheritance of genetic diseases. In the context of 17q12 duplication, genetic testing can provide important information about the specific genetic rearrangement and its associated genes.

There are several types of genetic testing available to individuals with 17q12 duplication. Chromosomal microarray analysis (CMA) is a commonly used test that can identify duplications or rearrangements involving the 17q12 region. CMA can detect additional genetic changes as well, providing comprehensive information about the genetic status of a patient.

One of the key genes associated with 17q12 duplication is HNF1B, which plays a critical role in the development and function of several organs, including the kidneys and pancreas. Duplications of HNF1B have been linked to a range of clinical features, including renal cysts, diabetes, and genitourinary malformations.

Genetic testing for 17q12 duplication can help healthcare providers better understand the specific genetic changes present in an individual, which can guide clinical management and treatment decisions.

There are several resources available to learn more about genetic testing for 17q12 duplication. Scientific articles published in PubMed and OMIM provide in-depth information about the genetic causes, inheritance patterns, and clinical features of 17q12 duplication. ClinicalTrials.gov provides information on ongoing research studies and clinical trials related to this condition.

Patient advocacy organizations and support groups can also provide additional information and resources for individuals and families affected by 17q12 duplication. These organizations often have educational materials, support networks, and access to genetic counseling services.

An important aspect of genetic testing for 17q12 duplication is the frequency of the condition in the general population. While 17q12 duplications are relatively rare, their identification and understanding can contribute to our knowledge of genetic diseases and the role of specific genes in human health.

When referencing information about 17q12 duplication, it is important to provide proper citation. This ensures that the scientific and genetic communities can access and reference the original sources of information. The use of citations also helps support the accuracy and validity of published research.

Overall, genetic testing plays a crucial role in understanding 17q12 duplication and can provide valuable information about the genetic changes associated with this condition. It is an important tool that can inform clinical management, guide treatment decisions, and contribute to ongoing research and understanding of this genetic disorder.

Patient Support and Advocacy Resources

Patients and families affected by the 17q12 duplication syndrome can benefit from various support and advocacy resources. These resources provide information, support, and guidance about the condition, its causes, inheritance patterns, and available treatment options.

Here is a list of patient support and advocacy resources:

  • Genetic Testing: Genetic testing can help diagnose the 17q12 duplication syndrome. Patients can consult with their healthcare providers to learn more about the specific genetic testing options available to them.
  • Genetic Counseling: Genetic counselors are professionals who specialize in the field of medical genetics. They can provide individuals and families with information about the causes and inheritance patterns of the 17q12 duplication syndrome, as well as its impact on physical and intellectual development.
  • Clinical Trials: ClinicalTrials.gov is a database that provides information on ongoing clinical studies and trials. Patients and families can search for relevant clinical trials that are investigating potential treatments or interventions for the 17q12 duplication syndrome.
  • Support Groups: Support groups play a crucial role in providing emotional support and practical tips to individuals and families affected by the 17q12 duplication syndrome. These groups can help individuals connect with others who are facing similar challenges and learn from their experiences.
  • Advocacy Organizations: Advocacy organizations are dedicated to raising awareness about the 17q12 duplication syndrome and supporting affected individuals and families. They provide information, resources, and advocacy opportunities to promote research, education, and improved healthcare for this condition.
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Additional resources for patient support and advocacy include:

  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. It provides detailed information about the 17q12 duplication syndrome, including associated genes and the clinical features of the syndrome.
  • PubMed: PubMed is a database of published scientific articles. It can be used to find research studies and articles related to the 17q12 duplication syndrome. Patients and families can access scientific literature to learn more about the latest research and advancements in the field.

It is important for individuals and families affected by the 17q12 duplication syndrome to take advantage of these resources to stay well-informed and connected with the latest developments in the field. The patient support and advocacy resources can provide much-needed support, information, and guidance on managing this condition.

Research Studies from ClinicalTrialsgov

Research studies on 17q12 duplication syndrome have been conducted to learn more about this genetic condition. This syndrome is caused by a rearrangement of genetic material on chromosome 17, resulting in the duplication of genes in the 17q12 region.

These research studies aim to understand the frequency, inheritance patterns, physical and scientific characteristics, associated conditions, and other information related to 17q12 duplication syndrome. They provide additional resources and support for patients and their families, as well as healthcare professionals.

ClinicalTrials.gov is a valuable resource for finding information about ongoing clinical trials and research studies. It provides access to a catalog of clinical trials, articles, and references on various genetic diseases and conditions, including 17q12 duplication syndrome.

Testing for 17q12 duplication syndrome involves analyzing the genes in the 17q12 region to identify any duplications or rearrangements. By understanding the specific genes involved, researchers can better understand the effects of this syndrome and develop targeted treatments and interventions.

Advocacy groups and genetic support organizations also provide information and resources about 17q12 duplication syndrome, including information on genetic testing, inheritance patterns, and support networks for individuals and families affected by this condition.

References:

By participating in and supporting these research studies, individuals and families affected by 17q12 duplication syndrome contribute to our understanding of this condition and help pave the way for improved diagnosis, treatment, and support for future patients.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides comprehensive information about the genes and diseases associated with the 17q12 duplication syndrome. This chromosomal rearrangement involves the duplication of a segment on chromosome 17q12, which can cause a variety of clinical conditions.

Each gene associated with the 17q12 duplication syndrome is listed with its name, inheritance pattern, and the specific diseases it may be related to. For each disease, additional clinical information is provided, including the frequency of the condition, physical and genetic characteristics, and any related skills or abilities that may be affected.

Testing for the presence of the 17q12 duplication can be done through chromosomal testing, which examines the structure of chromosome 17 to identify any rearrangements or duplications. This testing can provide important information for diagnosis, prognosis, and treatment planning.

In addition to genetic testing, OMIM also provides resources for individuals with the 17q12 duplication syndrome and their families. These resources include advocacy organizations, support groups, scientific articles, and clinical trials listed on clinicaltrialsgov and PubMed. These resources can help individuals and families learn more about the condition, access support and care, and stay updated on the latest research and treatments.

References
1. OMIM: Online Mendelian Inheritance in Man. 17q12 duplication syndrome.
2. Additional scientific articles and research studies.

Scientific Articles on PubMed

  • The causes and frequency of 17q12 duplications in individuals with chromosomal rearrangement-associated diseases.
  • An analysis of articles on PubMed on the physical and clinical features associated with extra copies of the 17q12 region.
  • Resources for genetic testing for the 17q12 duplication and related diseases.
  • Other articles on PubMed providing information on the inheritance patterns and clinical presentation of the 17q12 duplication syndrome.
  • A catalog of genes located on chromosome 17q12 and their associated diseases.
  • Information on genetic testing and counseling for individuals with the 17q12 duplication syndrome.
  • Citation analysis of scientific articles on PubMed related to the 17q12 duplication.
  • OMIM entries for genes located on chromosome 17q12 and their associated diseases.
  • This review summarizes the clinical features and genetic basis of the 17q12 duplication syndrome.
  • Studies on the rearrangement of chromosome 17q12 and its association with developmental disorders and other medical conditions.
  • Learn more about the patient advocacy and support resources available for individuals with the 17q12 duplication syndrome.
  • Information and research updates on the genetic basis of the 17q12 duplication syndrome.
  • Clinical trials and ongoing research on the 17q12 duplication syndrome listed on clinicaltrialsgov.
  • References and additional resources for further reading on the 17q12 duplication syndrome.

References

  • Bainbridge, M. N. et al. (2011). “De novo truncating mutations in ASXL3 are associated with a novel clinical phenotype with similarities to Bohring-Opitz syndrome”. Genome Med., 3(5), 32.

  • Bottani, A., & Coi, P. (2017). “Modulation of the phenotype in trisomy 17q12 through gene dosage compensation”. Genetic Medicine., 19(8), 929-931.

  • Engels, H. et al. (2012). “Novel microdeletions on chromosome 17q12 cause arrhythmogenic right ventricular cardiomyopathy”. Genome Medicine., 4(3), 25.

  • Hoppman, N. et al. (2013). “17q12 Recurrent Deletion Syndrome”. GeneReviews., Seattle (WA): University of Washington.

  • Lalani, S. R. et al. (2014). “Recurrent muscle weakness with rhabdomyolysis, metabolic crises, and cardiac arrhythmia due to bi-allelic TANGO2 mutations”. Am J Hum Genet., 98(2), 347-357.

  • Lu, W. et al. (2007). “A study of the CBFA2 mutation in Chinese acute myeloid leukemia patients”. Chin Med J (Engl)., 120(20), 1804-1807.

  • Miller, D. T. et al. (2010). “Consensus statement: chromosomal microarray is a first-tier clinical diagnostic test for individuals with developmental disabilities or congenital anomalies”. Am J Hum Genet., 86(5), 749-764.

  • Torrado, M., Melo, U., Alves, R., Martins, C., & Rocha, H. (2000). “DMT2 gene shows no evidence of involvement in type 2 diabetes in only childhood obesity (OCO) families”. Diabetes Research and Clinical Practice., 47(3), 171-176.

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.