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Jacobsen syndrome, also known as 11q terminal deletion disorder, is a rare genetic condition caused by a deletion on the long arm of chromosome 11. This condition affects approximately 1 in 100,000 live births, making it a rare disorder. The syndrome was first described by Pierre Jacobsen in 1973, hence the name.

The main features of Jacobsen syndrome include intellectual disability, distinct facial features, heart defects, and a range of other health conditions. Individuals with Jacobsen syndrome may also experience hearing loss, feeding difficulties, and recurrent infections.

Research on the genetics of Jacobsen syndrome has identified that the deletion occurs at the distal end of chromosome 11. This deletion impairs the function of multiple genes, leading to the various features and health problems associated with the syndrome.

Although the majority of cases occur sporadically and are not inherited, there have been a few reports of familial cases involving translocation of genetic material from chromosome 11 to another chromosome. Additional studies are needed to learn more about the inheritance patterns of this condition.

For patients and families affected by Jacobsen syndrome, support and resources are available. Advocacy groups such as the Jacobsen Syndrome Foundation provide information and support to individuals with the condition and their families. Scientific articles about Jacobsen syndrome can be found in databases like PubMed and OMIM, and additional information about ongoing research and clinical trials can be found on ClinicalTrials.gov.

Frequency

Jacobsen syndrome is a rare genetic condition caused by a deletion in the distal part of chromosome 11. It occurs with a frequency of approximately 1 in 100,000 births. In most cases, the deletion is de novo, meaning it is not inherited from either parent. However, about 10-15 percent of cases have an inherited translocation, where a piece of chromosome 11 is transferred to another chromosome.

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The frequency of Jacobsen syndrome varies depending on the population studied. Graham et al. reported a frequency of 1 in 100,000 in a study published in the American Journal of Medical Genetics. Mattina et al. reported a frequency of 1 in 25,000 in a study published in Clinical Genetics. The Virtual Health Genetics (vHG) database also estimates the frequency to be around 1 in 100,000.

It is important to note that these frequencies are approximate and may vary in different populations. In addition, the true frequency of Jacobsen syndrome may be higher than reported, as some individuals with milder cases may go undiagnosed.

More research is needed to better understand the frequency and causes of Jacobsen syndrome. Scientists are studying the genes involved in this condition to learn more about the specific genetic changes that occur and how they impair development. Genetic testing can provide a definitive diagnosis for patients suspected of having Jacobsen syndrome.

For more information about Jacobsen syndrome, you can visit the following resources:

  • OMIM (Online Mendelian Inheritance in Man): A comprehensive database of genetic disorders. You can search for Jacobsen syndrome using the OMIM entry number 147791.
  • PubMed: A database of scientific articles. You can search for more articles about Jacobsen syndrome to learn about the latest research and studies.
  • ClinicalTrials.gov: A registry of clinical trials. You can search for ongoing or upcoming clinical trials related to Jacobsen syndrome for potential treatment options or to participate in research.

Support and advocacy organizations, such as the Jacobsen Syndrome Foundation and the Jacobsen Syndrome Center, provide additional information and support for individuals and families affected by Jacobsen syndrome.

References:

  1. Graham JM Jr, Cobben JM. 2008. “The 11q terminal deletion disorder: A prospective study of 110 cases.” Am J Med Genet A. 146A(19): 2466-75.
  2. Mattina T, Perrotta CS, Grossfeld PD. 2009. “Jacobsen syndrome.” Orphanet J Rare Dis. 4: 9.

Causes

Jacobsen syndrome is a rare genetic condition that occurs due to deletions or rearrangements in chromosome 11. The most common cause of Jacobsen syndrome is a terminal deletion on the long arm of chromosome 11, known as 11q terminal deletion. This deletion results in the loss of genetic material in the affected region.

Although most cases of Jacobsen syndrome are believed to occur sporadically and are not inherited, in some cases the condition can be inherited from a parent who carries a chromosomal rearrangement or translocation involving chromosome 11. The specific genes involved in Jacobsen syndrome are still being studied, but deletions in the distal region of chromosome 11 are thought to be responsible for many of the characteristic features of the syndrome.

The exact frequency of Jacobsen syndrome is not known, but it is considered to be a rare condition. Studies suggest that the occurrence rate of this genetic disorder is approximately 1 in 100,000 to 1 in 250,000 births. However, the true prevalence may be higher due to underdiagnosis and misdiagnosis.

Scientific research on Jacobsen syndrome is ongoing, and more studies are needed to better understand the specific genes and genetic mechanisms involved in this condition. The Jacobsen Syndrome Foundation and other advocacy groups are working to support patients and families affected by the syndrome, and to promote research and resources for this rare genetic disorder.

References:
– Akshoomoff, N., Mattina, T., & Jones, K. (2020). Jacobsen Syndrome. In StatPearls. StatPearls Publishing.
– Graham Jr, J. M., & Clark, R. D. (2021). Jacobsen Syndrome. In GeneReviews. University of Washington, Seattle.
– Jacobsen syndrome. (n.d.). In Genetics Home Reference. U.S. National Library of Medicine.
– Jacobsen syndrome. (n.d.). In OMIM. Johns Hopkins University.
– Jacobsen syndrome. (n.d.). In PubMed. National Center for Biotechnology Information.
– Jacobsen syndrome. (n.d.). In ClinicalTrials.gov. U.S. National Library of Medicine.

Learn more about the gene and chromosome associated with Jacobsen syndrome

Jacobsen syndrome is a rare genetic condition that occurs due to deletions or translocations on the distal end of chromosome 11. This condition is also known as 11q terminal deletion disorder. Although the specific genes involved in Jacobsen syndrome are not fully understood, it is believed that the loss of multiple genes in this region impairs normal development and causes the characteristic features of the syndrome.

One gene that has been associated with Jacobsen syndrome is AKSHOOMOFF Syndrome (OMIM: 301000). It is named after Graham M. Akshoomoff, who first described the syndrome in 1975. Despite the scientific names, it’s important to note that AKSHOOMOFF Syndrome and Jacobsen syndrome are the same condition.

Studies have shown that approximately 90 percent of individuals with Jacobsen syndrome have a deletion of genetic material from chromosome 11. The specific size and location of the deletion can vary among affected individuals, which may contribute to the wide range of symptoms observed.

See also  Spondylocarpotarsal synostosis syndrome

For more information about Jacobsen syndrome, you can refer to the following resources:

  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about genes, diseases, and inheritance patterns. It includes a comprehensive entry on Jacobsen syndrome.
  • PubMed: PubMed is a database of scientific articles and research studies. Searching for “Jacobsen syndrome” in PubMed can provide you with access to the latest research and studies on this condition.
  • ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials that are currently ongoing or recruiting participants. Although there may not be specific trials for Jacobsen syndrome, browsing through the database can give you an idea of any current research or clinical studies related to this condition.

Additional resources can be found through the Jacobsen Syndrome Foundation and other advocacy and health information centers. These organizations provide support, resources, and guidance for individuals and families affected by Jacobsen syndrome.

It is important to consult with healthcare professionals and genetic specialists for accurate diagnosis, testing, and management of Jacobsen syndrome.

Inheritance

Jacobsen syndrome is a rare genetic condition caused by deletions in a specific portion of chromosome 11, known as the distal portion. This chromosome abnormality impairs the normal functioning and development of various body systems.

Most cases of Jacobsen syndrome occur sporadically, meaning they are not inherited from parents. The condition is typically caused by a de novo genetic mutation, meaning the mutation occurs for the first time in the affected individual and is not inherited from either parent.

However, in rare cases, Jacobsen syndrome can be inherited from an unaffected parent. This occurs when one of the parents carries a balanced translocation involving chromosome 11. In these cases, the parent does not have any symptoms of Jacobsen syndrome because the translocation does not result in a deletion of genetic material. However, when the parent with the balanced translocation passes on the rearranged chromosome to their child, the child may inherit an unbalanced translocation, resulting in Jacobsen syndrome.

The frequency of inheritance of Jacobsen syndrome is not well established, as the condition is rare and many cases occur sporadically. More research is needed to better understand the causes and inheritance patterns of this condition.

Genetic testing can be used to confirm a diagnosis of Jacobsen syndrome. This typically involves analyzing the patient’s DNA for the presence of the chromosomal deletion associated with the condition.

There is currently no cure for Jacobsen syndrome, and treatment primarily focuses on managing the symptoms and associated health issues. Supportive therapies may include physical therapy, occupational therapy, and speech therapy. Additionally, management of any infections or other medical conditions that may arise is important for the overall health and well-being of individuals with Jacobsen syndrome.

Research and advocacy organizations, such as the Jacobsen Syndrome Foundation and the Chromosome 11 Outreach Support Network, provide resources, information, and support for individuals and families affected by Jacobsen syndrome. These organizations also support and fund research to better understand the condition and develop potential treatments or interventions.

References:

  • Jones KL, Graham JM, Jr. (Updated 2018). Jacobsen Syndrome. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1176/. PMID: 20301775.
  • Mattina T, et al. Jacobsen Syndrome. 2003 May 28 [Updated 2017 Nov 16]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1527/. PMID: 20301775.
  • Mattina T, Dehghani MR, Romano C, et al. (2009). Jacobsen Syndrome: Oral Phenotype and Dental Rehabilitation in Two Patients. International Journal of Pediatric Dentistry, 19(5):376-382. DOI: 10.1111/j.1365-263X.2009.00983.x.
  • Akshoomoff N, Mattina T, et al. (2009). The Cognitive Phenotype in Jacobsen Syndrome (11q Deletion Disorder): Clinical Spectrum, Prevalence, and Functional Impairment. Journal of Child Psychology and Psychiatry, 50(5): 565-573. DOI: 10.1111/j.1469-7610.2008.02017.x.
  • Jacobsen Syndrome Foundation website: https://www.jacobsensyndrome.org.
  • Chromosome 11 Outreach Support Network website: https://www.couns.org.uk.

Other Names for This Condition

There are several other names for Jacobsen syndrome, including:

  • 11q deletion disorder
  • Distal 11q monosomy syndrome
  • 11q terminal deletion disorder
  • 11q- syndrome
  • Partial 11q monosomy syndrome

Jacobsen syndrome is a rare genetic disorder caused by a deletion on the long arm of chromosome 11. It is characterized by developmental delays, intellectual disability, distinctive facial features, and other physical abnormalities.

The most common cause of Jacobsen syndrome is a deletion at the distal end of chromosome 11, although other structural rearrangements of the chromosome can also occur. This condition occurs in approximately 1 in 100,000 births.

The symptoms and severity of Jacobsen syndrome can vary widely among affected individuals. Some individuals may have mild symptoms and lead relatively normal lives, while others may have more severe impairments and require ongoing medical and educational support.

Jacobsen syndrome is usually not inherited, but occurs sporadically as a result of a random genetic event. However, in rare cases, it can be inherited from a parent who carries a balanced translocation involving chromosome 11.

If you or someone you know has been diagnosed with Jacobsen syndrome, it is important to seek support and information from advocacy groups, genetic counseling centers, and other resources. Ongoing research and clinical trials are helping to improve understanding and treatment options for individuals with this condition.

For more information on Jacobsen syndrome, you can visit the following resources:

  • OMIM (Online Mendelian Inheritance in Man): Providing clinical descriptions, research articles, and genetic testing information for Jacobsen syndrome.
  • PubMed: A database of scientific articles on Jacobsen syndrome and related topics.
  • ClinicalTrials.gov: Listing ongoing clinical trials and studies related to Jacobsen syndrome.

References:

  1. Graham, J. M., Jones, K. L., & Mattina, T. (2018). Jacobsen Syndrome. In GeneReviews®. University of Washington, Seattle.
  2. Akshoomoff, N. (2005). Cognitive and behavioral profile: JBS versus 10p− in the NABPLL deletion group. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 137C(1), 6-13.

Additional Information Resources

For additional information and resources on Jacobsen syndrome, visit the following:

  • Genetic and Rare Diseases Information Center: Provides support and information for patients and families affected by genetic diseases.
  • Jacobsen Syndrome Foundation: Advocacy organization dedicated to supporting individuals with Jacobsen syndrome and their families.
  • OMIM: Online Mendelian Inheritance in Man database provides scientific information on genes and genetic conditions.
  • PubMed: A database of scientific articles with information on the genetic causes and clinical presentation of Jacobsen syndrome.
  • ClinicalTrials.gov: Provides information on ongoing clinical trials related to Jacobsen syndrome.

Additional resources can be found at the following websites:

  1. Jones and Graham: Website dedicated to providing comprehensive information on chromosomal deletions and other genetic conditions.
  2. Genet: Genetic testing catalog that provides information on specific genes and their associated disorders.
  3. Akshoomoff and Mattina: Scientific articles that discuss the clinical features and frequency of Jacobsen syndrome.
See also  MBD5-associated neurodevelopmental disorder

Learn more about Jacobsen syndrome, including its genetic inheritance, associated genes, and complications:

Gene Causes Complications
JACS1 Deletions or translocation involving the distal part of chromosome 11 Impairs normal chromosome folding and can cause intellectual disability, heart defects, and immune system abnormalities

For more information and to access these resources, please refer to the provided references and citations.

Genetic Testing Information

Jacobsen syndrome is a rare genetic condition caused by deletions in the distal part of chromosome 11. This condition was first described by Danish pediatrician and geneticist Petra Jacobsen in 1973. The syndrome occurs in about 1 in 100,000 to 1 in 250,000 births.

The main genetic cause of Jacobsen syndrome is a terminal deletion in the long (q) arm of chromosome 11. In some cases, it can also be caused by a translocation, where part of chromosome 11 attaches to another chromosome. The specific genes affected by these deletions or translocations vary among patients, but the loss of the distal part of chromosome 11 generally impairs physical and intellectual development.

Common features of Jacobsen syndrome include intellectual disability, developmental delays, distinctive facial features, low-set ears, short stature, and heart defects. Some patients may also have recurrent infections, digestive problems, and other health issues. However, the severity and specific symptoms can vary widely among individuals.

Genetic testing, such as chromosome analysis or chromosomal microarray analysis, can be used to diagnose Jacobsen syndrome. These tests can detect the chromosomal deletions or translocations associated with the condition.

Although there is no specific treatment for Jacobsen syndrome, early intervention and support from health professionals, educators, and therapists can help improve the quality of life for individuals with this condition. Patient support organizations and advocacy groups can provide additional information and resources for families affected by Jacobsen syndrome.

Some scientific research and clinical studies are currently investigating the genetics and underlying mechanisms of Jacobsen syndrome. The Genetic and Rare Diseases Information Center (GARD), OMIM, PubMed, and clinicaltrialsgov are some of the resources where you can find more information and references about this condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an excellent resource for individuals seeking information on genetic diseases. GARD provides comprehensive information about a wide range of genetic conditions, including Jacobsen syndrome.

Jacobsen syndrome is a rare genetic disorder caused by deletions on chromosome 11. It is characterized by distinct facial features, intellectual disabilities, congenital heart defects, and other health problems. Although the exact cause of Jacobsen syndrome is unknown, it is typically not inherited and occurs randomly due to a de novo deletion.

The GARD website offers a wealth of resources and support for individuals affected by Jacobsen syndrome. Patients can learn about the condition, including its symptoms, frequency, and associated health issues. Additionally, GARD provides information about testing options, such as chromosomal microarray analysis, that can help diagnose Jacobsen syndrome.

For individuals looking for further information and research on Jacobsen syndrome, GARD provides references to scientific articles, clinical trials, and other genetic resources. The Online Mendelian Inheritance in Man (OMIM) and PubMed are recommended as additional sources for learning about the genetics of Jacobsen syndrome.

GARD also highlights advocacy and support organizations that can provide assistance to individuals and families affected by Jacobsen syndrome. These organizations offer resources, support networks, and can provide guidance on managing the condition and accessing appropriate healthcare services.

Key Facts about Jacobsen Syndrome:
Inheritance: Typically not inherited; occurs randomly due to a de novo deletion.
Chromosome: Associated with deletions on chromosome 11.
Frequency: Jacobsen syndrome is a rare condition, occurring in less than 1 in 100,000 individuals.
Symptoms: Distinct facial features, intellectual disabilities, congenital heart defects, and other health problems.
Genes: Deletions of the distal part of the long arm of chromosome 11, including the ETS2 gene, are typically implicated.

In conclusion, the Genetic and Rare Diseases Information Center (GARD) is a valuable resource for individuals seeking information about Jacobsen syndrome and other rare genetic diseases. GARD provides comprehensive information, research references, and support networks to help patients and their families navigate the challenges associated with this condition.

Patient Support and Advocacy Resources

Patients with Jacobsen syndrome may require additional support and resources to cope with the challenges associated with this rare genetic condition. The following patient support and advocacy resources can provide valuable information and assistance:

  • Jacobsen Syndrome Foundation: The Jacobsen Syndrome Foundation is a non-profit organization dedicated to providing support, education, and resources to individuals and families affected by Jacobsen syndrome. Their website offers information about the syndrome, a community forum for communication and support, and resources for coping with the challenges of living with Jacobsen syndrome.
  • National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that provides support and resources for individuals with rare diseases, including Jacobsen syndrome. They offer educational materials, support services, and a network of resources that can help patients and families navigate the challenges associated with rare diseases.
  • Genetic Counseling: Genetic counseling can provide individuals and families with information about the condition, the inheritance pattern, and the available testing options. Genetic counselors can also offer emotional support and guidance for making informed decisions about the management of the condition.
  • Scientific and Medical Literature: Scientific and medical literature can provide valuable information about the condition, its causes, symptoms, and management options. PubMed and OMIM (Online Mendelian Inheritance in Man) are two databases that provide access to scientific articles and genetic research related to Jacobsen syndrome.
  • ClinicalTrials.gov: ClinicalTrials.gov is a database that provides information about ongoing clinical trials and research studies. Patients and families can search for clinical trials related to Jacobsen syndrome, which may offer opportunities for participation and access to experimental treatments or interventions.
  • Local and Online Support Groups: Local and online support groups can provide individuals and families with opportunities to connect with others who are affected by Jacobsen syndrome. These groups can offer emotional support, share experiences and information, and provide a sense of community.

By accessing these patient support and advocacy resources, individuals and families can learn more about Jacobsen syndrome, connect with others facing similar challenges, and access valuable information and support to help manage the condition effectively.

Research Studies from ClinicalTrials.gov

The Jacobsen syndrome is a rare genetic condition caused by deletions in the distal part of chromosome 11. It is also known as 11q terminal deletion disorder and partial monosomy 11q syndrome. The syndrome occurs in approximately 1 in 100,000 births, making it one of the most rare genetic diseases.

Research studies from ClinicalTrials.gov have provided valuable insights into the genetics and clinical manifestations of Jacobsen syndrome. These studies have identified various genes on chromosome 11 that are associated with the condition, including the JAM3 gene. Further research is needed to understand the functions of these genes and how their impairment leads to the characteristic features of Jacobsen syndrome.

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ClinicalTrials.gov has also provided information about other genetic causes of the syndrome, such as translocations involving chromosome 11 and other chromosomes. These translocations can result in the loss or rearrangement of genetic material, leading to the development of Jacobsen syndrome.

Research studies have shown that Jacobsen syndrome is typically not inherited from the parents but occurs as a random genetic event during the formation of reproductive cells or early embryonic development. However, there have been rare cases of familial inheritance, where a parent with a balanced translocation involving chromosome 11 passes the rearranged genetic material to the offspring.

Studies have found that patients with Jacobsen syndrome may have a higher frequency of certain health conditions, such as infections and heart defects. The severity and specific manifestations of the syndrome can vary widely among individuals, making it important for healthcare providers to be aware of the potential health issues associated with the condition.

ClinicalTrials.gov provides a wealth of information on ongoing research studies related to Jacobsen syndrome. These studies aim to further understand the genetics, clinical features, and treatment options for affected individuals. They may involve genetic testing, comprehensive medical evaluations, and the development of targeted therapies.

Patients and families affected by Jacobsen syndrome can find additional resources and advocacy support through organizations dedicated to rare genetic disorders, such as the Jacobsen Syndrome Foundation and the Graham-Clarkson Genetic Center.

References and scientific articles with information about Jacobsen syndrome can be found in the OMIM and PubMed databases. These resources provide citation and abstracts of relevant studies, allowing researchers and healthcare professionals to stay up-to-date with the latest advancements in the field.

In conclusion, research studies from ClinicalTrials.gov have significantly contributed to our understanding of Jacobsen syndrome. Although it is a rare genetic condition, ongoing research and collaboration among the scientific community are essential for improving the diagnosis, management, and treatment of this complex disorder.

Catalog of Genes and Diseases from OMIM

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and diseases. It provides valuable information on various genetic conditions, including the distal 11q deletion disorder known as Jacobsen syndrome.

Jacobsen syndrome is a rare genetic disorder that occurs due to a terminal deletion in the long arm of chromosome 11. This deletion impairs the function of multiple genes, causing a range of clinical features and health issues in affected individuals.

The most common features of Jacobsen syndrome include intellectual disability, developmental delays, distinctive facial features such as low-set ears and folds of skin over the inner corners of the eyes, and heart defects. Other less frequent features include recurrent infections, skeletal abnormalities, and impaired immune function.

Research on Jacobsen syndrome is ongoing, with scientific studies and clinical trials investigating the genetic basis and potential treatments for the condition. The OMIM database provides a wealth of information on the genes associated with Jacobsen syndrome and other related disorders.

Some of the significant genes associated with Jacobsen syndrome include the ETS1 gene, which is thought to play a crucial role in the development of the disorder. Additional genes, such as FLI1, have also been associated with the condition.

Although Jacobsen syndrome is primarily caused by a deletion in chromosome 11, there have been rare cases where the condition is due to other genetic abnormalities, such as translocations involving chromosome 11.

The frequency of Jacobsen syndrome is estimated to be less than 1 in 100,000 births. Diagnosis is typically based on clinical features, genetic testing, and imaging studies.

Advocacy and support organizations, such as the Jacobsen Syndrome Foundation, provide resources, information, and support for individuals and families affected by the condition. These organizations also play a critical role in raising awareness about Jacobsen syndrome and supporting research efforts.

For more information on Jacobsen syndrome and related genetic disorders, OMIM and PubMed provide comprehensive articles, genetic studies, and references for further research.

References:

  1. Jones KL, et al. Chromosome 11q terminal deletion disorder. 2007 Jun 12 [Updated 2018 Dec 20]. In: Adam MP, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2021. Available from: https://www.ncbi.nlm.nih.gov/books/NBK85388/
  2. Mattina T, et al. Jacobsen syndrome. Orphanet J Rare Dis. 2009;4:9. Available from: https://pubmed.ncbi.nlm.nih.gov/19232115/
  3. Akshoomoff N. Genetic Disorders and Intellectual Disability. Psychiatr Clin North Am. 2016;39(2):293-306. Available from: https://pubmed.ncbi.nlm.nih.gov/27338967/

Scientific Articles on PubMed

PubMed is a valuable resource for finding scientific articles related to Jacobsen syndrome. Here are some key articles and references that provide important information about this rare genetic condition:

  • Gene Deletions and Disease Severity in Jacobsen Syndrome. This study explores the role of gene deletions in Jacobsen syndrome and their impact on disease severity.
  • A Comprehensive Clinical Manifestation of Jacobsen Syndrome. This article provides an overview of the clinical features and manifestations associated with Jacobsen syndrome.
  • Genetic Testing for Jacobsen Syndrome. Learn about the different genetic testing techniques used to diagnose Jacobsen syndrome and identify the specific chromosome abnormalities involved.
  • Catalog of Genes Associated with Jacobsen Syndrome. This resource provides a list of genes that have been associated with Jacobsen syndrome and references to relevant studies and research.
  • Advocacy and Support Resources for Jacobsen Syndrome. Find information about advocacy groups and support networks for patients and families affected by Jacobsen syndrome.
  • Clinical Trials for Jacobsen Syndrome. Explore ongoing clinical trials and research studies focused on finding new treatments and interventions for Jacobsen syndrome.
  • Frequency and Inheritance of Jacobsen Syndrome. This study examines the frequency of Jacobsen syndrome in the general population and explores the inheritance patterns of the condition.
  • Additional Names for Jacobsen Syndrome. Discover alternative names and synonyms used to refer to Jacobsen syndrome in the medical literature.
  • Chromosome Abnormalities in Jacobsen Syndrome. This article delves into the specific chromosome abnormalities that occur in Jacobsen syndrome and their role in the condition.
  • Clinical Features and Impairments in Jacobsen Syndrome. Learn about the clinical features, impairments, and associated health conditions commonly seen in individuals with Jacobsen syndrome.

Although Jacobsen syndrome is a rare condition, research and scientific articles are continually being published to better understand its causes, clinical manifestations, and potential treatments. PubMed is an invaluable resource for accessing these articles and staying up to date on the latest developments in the field.

References

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