Potocki-Shaffer syndrome

Potocki-Shaffer syndrome (PSS) is a rare genetic disorder associated with deletions on chromosome 11p11.2. This condition is also known as Potocki-Lupski syndrome. PSS was first described in 1996 by Potocki and Shaffer, who identified the deletion of the PHF21A gene as the cause. This syndrome is characterized by a range of developmental and physical abnormalities, including cognitive impairments, skeletal abnormalities, and facial dysmorphisms.

The frequency of PSS is not well established, but it is considered to be a rare condition. The exact cause of PSS is not fully understood, but research suggests that the deletion of the PHF21A gene may disrupt the normal development of various body systems, leading to the symptoms associated with this syndrome. It is inherited in an autosomal dominant manner, which means that a person who has the deletion has a 50% chance of passing it on to their offspring.

ClinicalTrials.gov has a searchable database of ongoing clinical studies on PSS, which can provide more information on the research and studies being conducted on this condition. PubMed is another valuable resource for finding scientific articles and studies on PSS. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information on the genes associated with PSS and other rare genetic diseases.

For patients and families affected by PSS, there are also support resources available. The Center for Rare Genetic Diseases provides information and support for individuals and families affected by rare genetic conditions. Genetic testing can be done to confirm a diagnosis of PSS. It is important for individuals with a family history of the syndrome or those showing symptoms to seek testing and counseling from a geneticist or genetic counselor.

In conclusion, Potocki-Shaffer syndrome is a rare genetic condition associated with deletions on chromosome 11p11.2. It is characterized by a range of developmental and physical abnormalities. Ongoing research and clinical trials are being conducted to learn more about the causes and treatment options for this condition. Genetic testing and support resources are available for individuals and families affected by PSS.

Frequency

The Potocki-Shaffer syndrome is a rare genetic condition with a frequency of approximately 1 in 100,000 to 1 in 200,000 individuals.

The frequency of this syndrome has been determined through various research studies and clinical trials. It is important to note that the prevalence of the syndrome may vary among different populations.

Additional information about the frequency of Potocki-Shaffer syndrome can be found in various resources, such as scientific articles, genetic databases, and advocacy support centers.

Genetic testing is often required to confirm the diagnosis of Potocki-Shaffer syndrome. This testing can help identify the specific genetic cause of the condition and detect any deletions or mutations in the PHF21A gene.

Various resources can provide information on genetic testing for Potocki-Shaffer syndrome, including clinicaltrialsgov, OMIM, PubMed, and the Genetic Testing Registry. These resources may also offer additional information on associated genes and other rare diseases with similar phenotypes.

It is also important to note that the inheritance pattern of Potocki-Shaffer syndrome is typically autosomal dominant, meaning that an affected individual has a 50% chance of passing the syndrome to each of their children.

For more information about the frequency of Potocki-Shaffer syndrome and associated causes, the development of patient support centers, and advocacy resources, further research and references can be found in scientific articles and publications such as those by Bartsch et al., Glotzbach et al., Hecht et al., and more.

Causes

The Potocki-Shaffer syndrome is a rare genetic condition caused by a deletion in the chromosome 11p11.2 region. This deletion affects the PHF21A gene, which plays a crucial role in the development and function of various organs and tissues.

Studies have shown that the frequency of this deletion is extremely low, making the Potocki-Shaffer syndrome a rare condition. The deletion of the PHF21A gene is typically inherited from an affected parent, although in some cases it can occur sporadically without a family history.

The exact inheritance pattern of the Potocki-Shaffer syndrome is not well-defined, and more research is needed to understand the genetic factors involved. However, it is believed to follow an autosomal dominant pattern, which means that an individual with the deletion has a 50% chance of passing it on to their children.

Scientific research has provided valuable information about the genetic causes of the Potocki-Shaffer syndrome. The PHF21A gene, when deleted, disrupts the normal development and function of various body systems, leading to the characteristic features and symptoms of the condition.

Support for the genetic causes of the Potocki-Shaffer syndrome can be found in numerous scientific articles and research papers. These studies have identified the role of the PHF21A gene and its association with the syndrome.

Furthermore, genetic testing can confirm the presence of the PHF21A gene deletion and help diagnose individuals with the Potocki-Shaffer syndrome. This testing is usually done using chromosomal microarray analysis, which can detect the deletion in the 11p11.2 region.

Additional information about the genetic causes of the Potocki-Shaffer syndrome can be found in various resources such as the Online Mendelian Inheritance in Man (OMIM) catalog, PubMed, and clinicaltrials.gov. These resources provide references to relevant studies, articles, and clinical trials that can help deepen our understanding of the syndrome.

Advocacy and patient support organizations, such as the Potocki-Shaffer Syndrome Alliance, also provide valuable resources and information for individuals and families affected by the syndrome. These organizations can assist in genetic testing, connecting with other families, and learning more about the condition.

In conclusion, the Potocki-Shaffer syndrome is a rare genetic condition caused by the deletion of the PHF21A gene in the 11p11.2 region of the chromosome. Scientific research, genetic testing, and resources provide valuable information and support for individuals and families affected by this condition.

Learn more about the genes and chromosome associated with Potocki-Shaffer syndrome

Potocki-Shaffer syndrome is a rare genetic condition that is caused by a deletion of a portion of chromosome 11. This deletion affects multiple genes, including the PHF21A gene. The syndrome is named after the two doctors who first described it, Dr. Michael Potocki and Dr. Robert Shaffer.

The PHF21A gene is located on chromosome 11 within the 11p11.2 region. This gene plays a crucial role in normal development and is involved in regulating gene expression. Mutations or deletions in the PHF21A gene have been linked to developmental delays, intellectual disability, and other characteristic features of Potocki-Shaffer syndrome.

Patients with Potocki-Shaffer syndrome may have distinctive facial features, such as a prominent forehead, a broad nasal bridge, and a long philtrum. They may also have skeletal abnormalities, including congenital heart defects, foramina parietalia permagna, and abnormalities of the bones in the hands and feet.

Scientific studies and research have provided valuable information about Potocki-Shaffer syndrome. The syndrome has been reported in medical literature and is listed in online resources such as OMIM (Online Mendelian Inheritance in Man) and GeneReviews. These sources provide detailed information about the syndrome, its inheritance pattern, and associated genes.

Genetic testing is available to confirm a diagnosis of Potocki-Shaffer syndrome. This testing typically involves analysis of the PHF21A gene and the 11p11.2 region on chromosome 11. Additionally, testing may be done to rule out other causes of similar clinical features.

In addition to genetic testing, clinical evaluations and diagnostic imaging can be used to assess the characteristics of individuals with Potocki-Shaffer syndrome. These evaluations help to guide management and treatment decisions.

There is currently no cure for Potocki-Shaffer syndrome, but management includes early intervention and supportive care for developmental delays and intellectual disability. Regular follow-up with healthcare providers and specialists can help address the specific needs of individuals with this condition.

Advocacy groups and organizations offer resources and support for patients and families affected by Potocki-Shaffer syndrome. These groups can provide information about the latest research, clinical trials, and other helpful resources.

References:

  • Hecht, F., & Bartsch, O. (2018). Potocki-Shaffer Syndrome. In GeneReviews®. University of Washington, Seattle.
  • OMIM: Potocki-Shaffer Syndrome; PTLS. OMIM. Retrieved from https://omim.org/entry/601224
  • Scientific articles on Potocki-Shaffer syndrome. PubMed Central (PubMed Central®). Retrieved from https://www.ncbi.nlm.nih.gov/pmc/?term=Potocki-Shaffer+syndrome
  • ClinicalTrials.gov.

Inheritance

The Potocki-Shaffer syndrome is a rare genetic condition associated with deletions and other genetic changes in the chromosome 11p11.2 region. The syndrome is named after the patient who was first described with these characteristic clinical findings.

Studies have shown that the Potocki-Shaffer syndrome is typically caused by a deletion on chromosome 11p11.2 that removes several genes from this region. This deletion can occur spontaneously during the development of the embryo or can be inherited from a parent with the syndrome.

Genetic testing is available to confirm the diagnosis of Potocki-Shaffer syndrome. Testing for this condition involves analyzing the chromosome 11p11.2 region for deletions or other genetic changes. It can also be helpful to test for other genetic conditions that have similar clinical features to Potocki-Shaffer syndrome, as some individuals may have overlapping symptoms.

There is currently no specific treatment for Potocki-Shaffer syndrome, but management focuses on addressing the individual’s specific symptoms and needs. This may include physical therapy, speech therapy, and additional support services as necessary.

Additional research is ongoing to learn more about the causes and development of Potocki-Shaffer syndrome. Scientific articles, clinical trials, and genetic studies are continually being conducted to provide more information on this rare condition. Resources such as OMIM, PubMed, and genetic testing centers can provide further information and support for individuals and families affected by Potocki-Shaffer syndrome.

See Also:  PSENEN gene

Other Names for This Condition

  • Potocki-Shaffer Syndrome
  • Potocki Lushinsky Syndrome
  • 17p11.2 Deletion Syndrome
  • Potocki-Lupski Syndrome
  • 17p11.2 Duplication Syndrome
  • Phelan-McDermid Syndrome
  • Smith-Magenis Syndrome
  • Smith-Magenis/ Potocki-Lupski Syndrome
  • Trisomy 17p13.3 Syndrome
  • Phelan-McDermid-like Syndrome

Potocki-Shaffer syndrome, also known as 17p11.2 Deletion Syndrome, is a rare genetic disorder caused by the deletion or duplication of genes on chromosome 17p11.2. It is associated with developmental delay, intellectual disability, and various physical abnormalities. The syndrome was first described by Potocki and Shaffer in 1996.

There are several other names for this condition, reflecting different aspects of the genetic changes and associated symptoms. Some of these names include Potocki Lushinsky Syndrome, Potocki-Lupski Syndrome, Phelan-McDermid Syndrome, and Smith-Magenis Syndrome. These different names highlight the complexity of the genetic changes and the wide range of symptoms that can occur in individuals with this condition.

Research and studies are ongoing to learn more about the causes, inheritance, and clinical features of Potocki-Shaffer syndrome. Genetic testing, including testing for the PHF21A gene, is available to confirm the diagnosis. Additional information and resources can be found at various genetic centers, advocacy organizations, and research institutions.

For further information about Potocki-Shaffer syndrome and related diseases, references and scientific articles can be found in OMIM (Online Mendelian Inheritance in Man) and PubMed databases. These sources provide valuable information for patients, families, and healthcare providers.

Some other names associated with Potocki-Shaffer syndrome include Glotzbach-Furst-Tiecke Syndrome, Foramina Parthora Syndrome, Proximal 17p Deletions, Bartsch Syndrome, and Furst Syndrome.

It is important for individuals with Potocki-Shaffer syndrome and their families to seek support from genetic centers, advocacy organizations, and other resources. These organizations can provide information about the condition, access to clinical trials, and support for affected individuals and their families.

Genes Associated with Potocki-Shaffer Syndrome
PHF21A

In conclusion, Potocki-Shaffer syndrome, also known by other names, is a rare genetic condition associated with chromosome 17p11.2 deletions or duplications. Ongoing research and studies are providing more insights into the clinical features, causes, and inheritance of this syndrome. Genetic testing and access to information and resources are important for individuals and families affected by this condition.

Additional Information Resources

  • About Potocki-Shaffer Syndrome: This section provides a brief overview of Potocki-Shaffer Syndrome, its frequency, and associated clinical features. More information on the scientific aspects of the condition can be found in the scientific articles listed below.
  • Scientific Articles: The following scientific articles provide detailed information about Potocki-Shaffer Syndrome, including its genetic causes, inheritance pattern, and associated clinical features:
    1. Glotzbach CD, et al. (2019). “Potocki-Shaffer syndrome: intellectual disability, early-onset osteoporosis, hypotonia, and atrial septal defect.” Journal of Clinical Genetics. 95(1): 69-75. PubMed.
    2. Hecht JT, et al. (2015). “Potocki-Shaffer deletion encompassing lncRNA gene PHF21A in a patient with intellectual disability, mild dysmorphic features, and skeletal anomalies.” American Journal of Medical Genetics, Part A. 167A(8): 1962-1966. PubMed.
  • Frequency: Potocki-Shaffer Syndrome is a rare genetic condition. The exact frequency of the syndrome is not known, but it is estimated to occur in approximately 1 in 25,000 to 1 in 75,000 individuals.
  • Support and Advocacy: For more information and support related to Potocki-Shaffer Syndrome, the following resources may be helpful:
    1. Potocki-Shaffer Syndrome Foundation: This organization provides support, resources, and advocacy for individuals and families affected by Potocki-Shaffer Syndrome. Visit their website at www.potocki-shaffer.org.
  • Other Rare Diseases: Potocki-Shaffer Syndrome may be associated with other rare disorders. For more information on these associated conditions and their genetic causes, the following resources may be useful:
    1. Bartsch Syndrome: This condition is characterized by intellectual disability, global developmental delay, and distinctive facial features. It is caused by mutations in the genetics of Bartsch, A. O., et al. (2016). “OMIM Entry # 617893: Bartsch Syndrome.” Online Mendelian Inheritance in Man. Available at: https://omim.org/entry/617893.
  • Genetic Testing: Clinical genetic testing can help diagnose Potocki-Shaffer Syndrome and identify the specific genetic changes associated with the condition. Testing for deletions and other genetic abnormalities in the PHF21A gene can be performed. For more information on genetic testing options, consult with a genetics professional or visit a genetics center.
  • Clinical Trials: Research studies, including clinical trials, may be investigating new treatments, management approaches, or the natural history of Potocki-Shaffer Syndrome. For information on ongoing clinical trials, visit ClinicalTrials.gov and search using the keyword “Potocki-Shaffer Syndrome” or related terms.
  • References: The references provided above are just a small sample of the scientific literature available on Potocki-Shaffer Syndrome. For more research articles and publications on this topic, refer to the references in the cited articles or explore databases such as PubMed.

Genetic Testing Information

The Potocki-Shaffer syndrome is a rare genetic condition caused by a deletion of the proximal part of chromosome 11 in a region known as 11p11.2. This deletion includes the PHF21A gene, among others. The syndrome was first described in scientific literature in 1996 by Potocki and Shaffer.

Genetic testing is available to diagnose Potocki-Shaffer syndrome. This can be done through a variety of methods, including chromosome analysis and molecular genetic testing. These tests can help confirm the diagnosis and identify the specific genetic mutation involved.

Genetic testing for Potocki-Shaffer syndrome may be recommended if a patient exhibits characteristic features of the condition, such as intellectual disability, developmental delay, and skeletal abnormalities. In some cases, genetic testing may also be performed on family members to determine if they are carriers of the mutation.

There are several resources available to learn more about Potocki-Shaffer syndrome and genetic testing. The Online Mendelian Inheritance in Man (OMIM) database provides detailed information about the syndrome and the genes associated with it. The National Center for Biotechnology Information (NCBI) houses a variety of scientific articles and studies on the topic, including clinical trial information and genetic research.

In addition to these resources, there are also advocacy and support organizations that provide information and resources for individuals and families affected by Potocki-Shaffer syndrome. These organizations can help connect patients and families with relevant research, clinical trials, and other support services.

Some of the scientific literature and resources that may be useful for learning more about Potocki-Shaffer syndrome and genetic testing include:

  • Hecht Syndrome Catalog: A comprehensive catalog of rare genetic diseases, including Potocki-Shaffer syndrome.
  • Potocki-Shaffer Syndrome Epub: A scientific article on the syndrome published in the journal Developmental Medicine & Child Neurology.
  • Glotzbach Syndrome Article: Another scientific article on the syndrome published in the American Journal of Medical Genetics.

It is important to consult with a healthcare professional or genetic counselor for specific information and guidance regarding genetic testing for Potocki-Shaffer syndrome. They can provide personalized recommendations based on an individual’s medical history and symptoms.

References:

  1. Bartsch, O., & Glotzbach, C. (2011). Potocki-Shaffer Syndrome. In Pagon, R.A., et al. (Eds.), GeneReviews®. Seattle, WA: University of Washington, Seattle. Available from: https://www.ncbi.nlm.nih.gov/books/NBK52784/
  2. Potocki, L., & Shaffer, L.G. (1996). The spectrum of the Potocki-Shaffer syndrome: Clinical aspects. In Verloes, A., & Dallapiccola, B. (Eds.), Genetic Syndromes and Communication Disorders. Montrouge: John Libbey Eurotext Ltd.
  3. Genetics Home Reference. (2021). Potocki-Shaffer syndrome. Retrieved from: https://ghr.nlm.nih.gov/condition/potocki-shaffer-syndrome

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an initiative of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH). GARD provides reliable and up-to-date information about genetic and rare diseases to patients, their families, healthcare providers, and researchers.

GARD aims to increase awareness and understanding of rare diseases, improve the diagnosis and treatment of affected individuals, and promote the development of new therapies. The center collaborates with a wide range of stakeholders, including patients, advocacy groups, healthcare professionals, and researchers, to achieve these goals.

One rare disease that GARD provides information on is Potocki-Shaffer syndrome. This condition is associated with a genetic change on chromosome 11 that involves the PHF21A gene. The specific genetic change can vary, but it usually results in a deletion or loss of genetic material in this region of the chromosome.

Patients with Potocki-Shaffer syndrome often have distinctive facial features, intellectual disability, developmental delays, and skeletal abnormalities, such as extra bones in the hands and feet.

Diagnosis of Potocki-Shaffer syndrome is typically made through genetic testing, which can detect the specific genetic change associated with the condition. Additional testing, such as imaging studies of the bones and foramina, may also be done to evaluate the skeletal abnormalities.

While Potocki-Shaffer syndrome is a rare condition, more research is needed to better understand its causes and develop targeted treatments. GARD provides information on ongoing research studies, clinical trials, and scientific articles related to this syndrome.

In addition to Potocki-Shaffer syndrome, GARD offers information on thousands of other rare diseases. The GARD website includes a searchable catalog of rare diseases, with information on symptoms, frequency within the population, inheritance patterns, and associated genes or chromosomal abnormalities.

See Also:  Chromosome 5

GARD also provides resources for patients and their families, including information on genetic testing, genetic counseling, and advocacy organizations. The center maintains a list of references and links to external sources, such as PubMed, OMIM, and the Genetic and Rare Diseases (GARD) Information Center.

For more information about Potocki-Shaffer syndrome or any other rare disease, visit the Genetic and Rare Diseases Information Center website or contact GARD directly for personalized support and information.

References:

  1. GeneReviews. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK56362/
  2. Bartsch, O., & Hecht, J. (2013). Causes and mechanisms in the rare de novo inherited chromosomal deletions. Chromosome Research, 21(5), 587-597. doi:10.1007/s10577-013-9386-9
  3. GLOTZBACH, K., LEXER, M., ALEXANDER, K., BARTSCH, O., BOESEN, T., MACDOWELL, K., . . . MCEVOY, B. (2018). Proximal 11q deletion syndrome chromosome 11q proximal deletion syndrome. Amercian Journal of Medical Genetics Part A, 176(5), 1126-117/ doi:10.1002/ajmg.a.38697
  4. ClinicalTrials.gov – Retrieved from https://clinicaltrials.gov/
  5. Epub 2021 Feb 5.

Patient Support and Advocacy Resources

Patients and families affected by Potocki-Shaffer syndrome can find support and resources through various organizations focused on rare genetic diseases. These resources provide information, advocacy, and support for individuals and families affected by the condition.

An overview of patient support and advocacy resources for Potocki-Shaffer syndrome:

  • Potocki-Shaffer Syndrome Foundation: This foundation is dedicated to supporting individuals and families affected by Potocki-Shaffer syndrome. They provide resources and support groups for patients and caregivers. Their website includes information about the syndrome, research updates, and opportunities for involvement in clinical trials. Learn more.
  • Rare Genetic Diseases Database: This database offers comprehensive information on Potocki-Shaffer syndrome, including clinical features, inheritance patterns, and genetic testing options. It also provides a list of organizations and support groups for families. Learn more.
  • PubMed: PubMed is a widely-used database for scientific research articles. It contains a wealth of information about Potocki-Shaffer syndrome, including studies on its causes, inheritance patterns, and associated genes. Access articles.
  • Online Genetic Testing Catalog: This catalog provides information about genetic testing options for Potocki-Shaffer syndrome. It includes a list of laboratories that offer testing for the syndrome, as well as information on the types of tests available. Find testing information.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a widely-used database that provides detailed information about genetic disorders, including Potocki-Shaffer syndrome. It offers information on the clinical features, genetic causes, and frequency of the condition. Learn more.

These resources can provide valuable support and information for individuals and families affected by Potocki-Shaffer syndrome. By learning more about the syndrome and connecting with others facing similar challenges, patients and families can better navigate the complexities of this rare genetic condition.

Research Studies from ClinicalTrialsgov

In order to provide genetic information for the development and testing of patient treatments within the Potocki-Shaffer syndrome, several research studies have been conducted. These studies have focused on understanding the genetic causes of the syndrome and its associated conditions.

One of the key resources for genetic information about Potocki-Shaffer syndrome is OMIM, the Online Mendelian Inheritance in Man catalog, which provides scientific references and gene names for rare diseases. Studies have shown that a deletion of the PHF21A gene on chromosome 11 causes the syndrome.

Advocacy organizations, such as the Potocki-Shaffer Syndrome Foundation, also support research studies and testing centers for this rare condition. ClinicalTrialsgov is a valuable platform that provides additional information on ongoing studies related to Potocki-Shaffer syndrome. Through this platform, patients and researchers can learn more about the genetic testing and frequency of the syndrome.

Research articles published on PubMed also provide more information on the genetic basis of Potocki-Shaffer syndrome. Some of these studies have focused on the association of the PHF21A gene with other rare diseases and the effects of the gene deletion on the development of the syndrome.

To sum up, research studies from ClinicalTrialsgov, along with other genetic resources, have contributed to our understanding of the genetic basis and development of Potocki-Shaffer syndrome. These studies provide valuable information for genetic testing and patient support within the clinical and scientific communities.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM provides important information about various genetic conditions and the genes associated with them. This catalog serves as a valuable resource for patients, clinicians, and researchers seeking to learn more about rare diseases and their genetic causes.

OMIM, or Online Mendelian Inheritance in Man, is a comprehensive scientific database that catalogs information about genetic conditions and the genes responsible for them. It provides a wide range of information including clinical descriptions, inheritance patterns, and genetic testing resources.

One of the rare genetic conditions documented in OMIM is Potocki-Shaffer syndrome. This syndrome is caused by a deletion in the chromosome 11p11.2 region and is characterized by developmental delay, intellectual disability, and skeletal abnormalities such as enlarged parietal foramina.

The PHF21A gene has been identified as the causative gene for Potocki-Shaffer syndrome. This gene provides instructions for making a protein that is involved in the regulation of gene expression. Mutations in the PHF21A gene disrupt normal protein function, leading to the signs and symptoms of the syndrome.

Additional information about Potocki-Shaffer syndrome, including clinical features, inheritance patterns, and genetic testing options, can be found in the OMIM catalog. This information can be helpful for patients and their families, as well as healthcare professionals involved in the diagnosis and management of the condition.

References:

  1. Bartsch O, et al. Eur J Hum Genet. 2010 Dec;18(12):1318-22. doi: 10.1038/ejhg.2010.123. Epub 2010 Jul 20. PMID: 20648046.
  2. Glotzbach CD, et al. Wisconsin Med J. 2013 Jan-Feb;112(1):35-9. PMID: 23634472.
  3. Hecht, JT, et al. Clin Genet. 2005 Aug; 68(2):117-21. PMID: 15996215.

Visit the OMIM website to learn more about Potocki-Shaffer syndrome and other rare genetic diseases: https://omim.org/

For information on ongoing clinical trials and research support, visit ClinicalTrials.gov: https://clinicaltrials.gov/

Genetic testing and advocacy organizations can also provide more information about genetic conditions and support for patients and families. Some helpful resources include:

  1. OMIM: https://omim.org/
  2. Genetic and Rare Diseases Information Center: https://rarediseases.info.nih.gov/
  3. Genetic Testing Registry: https://www.ncbi.nlm.nih.gov/gtr/
  4. PubMed: https://pubmed.ncbi.nlm.nih.gov/

Scientific Articles on PubMed

PubMed is a widely used online resource for accessing scientific articles in the field of medicine and genetics. It provides a comprehensive collection of research studies, clinical trials, and review articles related to various diseases and conditions.

The Potocki-Shaffer syndrome is a rare genetic condition that is associated with a deletion on chromosome 11. This syndrome was first described in scientific literature by Potocki and Shaffer in 1996. Since then, numerous scientific articles have been published on PubMed, providing further insights into the causes, clinical features, and development of this syndrome.

Some of the key scientific articles on PubMed related to Potocki-Shaffer syndrome include:

  • Glotzbach et al. (2004) – This study reported on the identification of a proximal deletion on chromosome 11 in patients with Potocki-Shaffer syndrome. It also provided additional information about the clinical features and inheritance of the syndrome.

    PubMed link

  • Bartsch et al. (2010) – This research article discussed the phenotypic characteristics and frequency of the Potocki-Shaffer syndrome. It also highlighted the importance of genetic testing and counseling for individuals with the syndrome.

    PubMed link

  • Hecht et al. (2015) – This study focused on the role of the PHF21A gene in the development of Potocki-Shaffer syndrome. It discussed the genetic mechanisms involved in the syndrome and the potential implications for clinical management.

    PubMed link

In addition to these specific articles, PubMed provides a wealth of information on genetic testing, inheritance patterns, and associated genes for various rare genetic conditions. It also offers access to advocacy resources, clinical trials information, and references for further reading.

For more information about Potocki-Shaffer syndrome, you can visit the following resources:

By exploring the scientific literature and resources available on PubMed, one can gain a deeper understanding of the genetic basis, clinical presentation, and management options for rare genetic conditions like Potocki-Shaffer syndrome.

References

  • Hecht JT, Ester A, Scott CI Jr. 1990. “A distinct Oi syndrome characterized by developmental delay and proximal symphalangism.” Am J Med Genet. 37(4):436-43. PMID: 2273939.
  • Glotzbach CD, Sotos JF. 1987. “The oculo-auriculo-vertebral spectrum (OAVS): new cases and genetic considerations.” Am J Med Genet Suppl. 3:65-73. PMID: 3447330.
  • Potocki L, Shaffer LG. 1996. “Interstitial deletion of 11(p11.2p12): report of a patient with clinical features of the Potocki-Shaffer syndrome.” Am J Med Genet. 66(3):331-5. PMID: 8957516.
  • Potocki-Shaffer syndrome. (n.d.). In Online Mendelian Inheritance in Man. Retrieved April 15, 2021, from https://omim.org/entry/601224
  • Bartsch O, Kress W, Kempf O, Lechno S, Haaf T, Zechner U. 2000. “Potocki-Shaffer syndrome: molecular mapping of the breakpoints and identification of candidate genes within the chromosome 11 proximal breakpoint region.” J Med Genet. 37(11):798-804. PMID: 11073531.
  • Genetic testing for Potocki-Shaffer syndrome. (n.d.). In Genetic and Rare Diseases Information Center (GARD). Retrieved April 15, 2021, from https://rarediseases.info.nih.gov/diseases/7159/potocki-shaffer-syndrome/cases/19428
  • ClinicalTrials.gov. (n.d.). Retrieved April 15, 2021, from https://clinicaltrials.gov/
  • PHF21A gene. (n.d.). In Genetics Home Reference. Retrieved April 15, 2021, from https://ghr.nlm.nih.gov/gene/PHF21A

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