Pallister-Killian mosaic syndrome, also known as Pallister-Killian syndrome or PKS, is a rare chromosomal condition. It is caused by a mosaic pattern of chromosome changes that occur after fertilization. The syndrome is associated with a distinctive pattern of facial features, including a high forehead, sparse hair, and a wide mouth. Additionally, individuals with PKS may have heart defects, intellectual disabilities, and other physical abnormalities.

The frequency of PKS is currently unknown, as it is a rare condition. However, it is estimated to occur in about 1 in 25,000 to 1 in 50,000 individuals. The condition is not inherited from parents but is caused by random changes in the chromosomes during early development in the womb.

Diagnosis of PKS can be challenging due to its rarity and variable symptoms. Genetic testing, including chromosomal analysis, is often necessary to confirm the diagnosis. Additional testing may be conducted to determine the extent of mosaicism and identify specific genetic changes associated with the condition.

The Pallister-Killian Syndrome Foundation is a valuable resource for individuals and families affected by PKS. The foundation provides support, information, and advocacy for those living with the condition. Their website offers a catalog of articles, scientific resources, and patient stories to help individuals learn more about PKS.

For more information about Pallister-Killian mosaic syndrome, visit the Foundation’s website or refer to scientific articles available on PubMed and the Online Mendelian Inheritance in Man (OMIM) catalog. These resources provide additional information about the causes, associated conditions, and management of PKS.

References:

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– Izumi, K. (2016). Pallister-Killian syndrome: Clinical and molecular insights into ciliary dysfunction. American Journal of Medical Genetics Part C: Seminars in Medical Genetics, 172(c), 123-131.

– Pallister-Killian Syndrome Foundation. (n.d.). Retrieved from http://www.pkssupport.com/index.cfm

Frequency

The Pallister-Killian mosaic syndrome is a rare genetic condition caused by changes in the genes on chromosome 12. It is associated with a mosaic pattern of genetic changes, meaning that some cells in the body have the changes while others do not.

The specific frequency of Pallister-Killian mosaic syndrome is unknown. It is estimated to occur in less than 1 in 25,000 individuals, making it a very rare condition.

The condition is not inherited from parent to child in most cases. Instead, it occurs sporadically during early development in infancy. The chromosomal changes that cause Pallister-Killian mosaic syndrome are usually not present in the parents and are specific to the affected individual.

Due to its rarity, the scientific understanding of Pallister-Killian mosaic syndrome is limited. However, more information about the condition can be found in scientific articles and resources such as the OMIM database, PubMed, and advocacy organizations.

The Pallister-Killian mosaic syndrome is associated with a variety of physical and developmental features. These can include intellectual disability, distinctive facial features, abnormalities of the heart, palate, and hair, and differences in the muscles and bones, such as extra toes. The severity and combination of symptoms can vary widely among affected individuals.

Diagnostic testing for Pallister-Killian mosaic syndrome involves chromosomal testing, such as karyotyping, to detect the mosaic pattern of genetic changes. Genetic testing for specific genes associated with the condition may also be performed.

In conclusion, the frequency of Pallister-Killian mosaic syndrome is rare, occurring in less than 1 in 25,000 individuals. The condition is caused by genetic changes on chromosome 12 and is associated with a mosaic pattern of genetic changes. Further research and testing are needed to deepen our understanding of this condition and develop targeted treatment approaches.

Causes

The cause of Pallister-Killian mosaic syndrome is the presence of an extra copy of a specific portion of chromosome 12, known as isochromosome 12p. This genetic change is called mosaicism because it occurs in only some of the body’s cells.

In individuals with Pallister-Killian mosaic syndrome, the extra isochromosome 12p is present in some cells but not others. This mosaic pattern of cells with different genetic makeup results in the characteristic features and symptoms of the syndrome.

The presence of an extra isochromosome 12p can be caused by a random error in the division of cells during early embryonic development. It is not inherited from parents, and it is typically not passed on to future generations.

Individuals with Pallister-Killian mosaic syndrome often have distinctive facial features, such as a high forehead, sparse hair, a flat nasal bridge, and a wide mouth with a high-arched palate. They may also have abnormalities in other parts of the body, including their toes and fingers.

Additional testing, such as chromosomal testing or genetic testing, may be necessary to confirm the presence of the extra isochromosome 12p and to rule out other chromosomal or genetic conditions with similar symptoms.

It is important to note that individuals with Pallister-Killian mosaic syndrome may have varying degrees of mosaicism, with some cells having the extra isochromosome 12p and others not. This can result in a wide range of symptoms and severity of the condition.

Scientific articles and resources from organizations such as OMIM and PubMed can provide more information about the causes and associated changes caused by Pallister-Killian mosaic syndrome. Genetic testing centers and advocacy organizations may also be able to provide support and additional information for individuals and their families.

Learn more about the chromosome associated with Pallister-Killian mosaic syndrome

Pallister-Killian mosaic syndrome is a rare genetic condition caused by changes in the chromosome structure. The syndrome is also known as Pallister mosaic syndrome or PMS. It is characterized by distinctive facial features, intellectual disability, seizures, and other developmental delays.

See also  CUBN gene

The chromosome associated with Pallister-Killian mosaic syndrome is chromosome 12. The syndrome is caused by a specific type of genetic change called chromosomal mosaicism, which means that some cells in the body have an abnormal number or structure of chromosomes, while other cells have a normal chromosomal pattern.

The chromosomal abnormality in Pallister-Killian mosaic syndrome is not inherited from the parent. It occurs randomly during the early development of the baby, shortly after fertilization. As a result, not all cells in the body have the chromosomal abnormality, which creates a mosaic pattern.

About 80 percent of individuals with Pallister-Killian mosaic syndrome have an extra copy of a specific region of chromosome 12, known as tetrasomy 12p. This extra genetic material can cause a wide range of symptoms and affects various parts of the body, including the heart, muscles, bones, and palate.

Additional features associated with Pallister-Killian mosaic syndrome include sparse hair, hypopigmentation (lighter skin color), and abnormalities in the structure of the mouth, nose, and ears. Some individuals may also have extra fingers or toes.

Genetic testing is typically required to diagnose Pallister-Killian mosaic syndrome. This can involve analyzing a sample of blood or other tissue to look for the characteristic chromosomal changes associated with the syndrome.

For more scientific information about Pallister-Killian mosaic syndrome and its chromosomal causes, you can refer to resources such as PubMed and OMIM. These databases provide articles, scientific references, and genetic testing information related to the syndrome and related diseases.

Support and advocacy organizations for Pallister-Killian mosaic syndrome, such as the Pallister-Killian Syndrome Foundation and the Izumi Pediatric Research Catalog, can also provide additional information and resources for patients, families, and healthcare providers.

Inheritance

The Pallister-Killian mosaic syndrome is a rare genetic condition caused by an extra copy of a specific group of genes. This extra copy is found in some, but not all, cells of the body. The syndrome is named after the scientists who first described its characteristics, Dr. David W. Smith and Dr. J. Partington Pallister. It is also known as Pallister-Killian syndrome or Mosaic tetrasomy 12p.

The extra copy of genes associated with the Pallister-Killian mosaic syndrome is usually found on chromosome 12, specifically in the region known as 12p. This genetic change is not inherited from the parent but occurs randomly during early development. It is called “mosaic” because the extra copy of genes is present only in some cells, creating a mosaic pattern.

Individuals with the Pallister-Killian mosaic syndrome often have distinctive physical features, such as a high forehead, sparse hair, a wide space between the eyes, and a broad nasal bridge. They may also have changes in their toes and palate. Additionally, the syndrome is associated with intellectual disability, heart defects, seizures, and other medical problems.

Since the Pallister-Killian mosaic syndrome is rare, there is limited information available about its frequency and inheritance pattern. However, the condition is not usually inherited from the parent. Instead, it arises from genetic changes that occur after fertilization.

Scientific research and genetic testing have provided more information about the causes and inheritance patterns of the Pallister-Killian mosaic syndrome. Additional studies have identified specific genetic changes and mosaicism in affected individuals. Genetic testing can help confirm the diagnosis and provide information about the specific genes involved in each case.

Many support and advocacy organizations, such as the Genetic and Rare Diseases Information Center (GARD) and the National Organization for Rare Disorders (NORD), offer resources and information for individuals and families affected by the Pallister-Killian mosaic syndrome. These organizations can provide support, information about genetic testing and counseling, and resources for managing the condition in infancy and throughout life.

References

  1. Izumi, K. (2020). Pallister-Killian Mosaic Syndrome. In GeneReviews®. University of Washington, Seattle.

  2. OMIM. (2021). Pallister-Killian mosaic syndrome. Retrieved from https://omim.org/entry/601803

  3. PubMed. (2021). Pallister-Killian mosaic syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Pallister-Killian+mosaic+syndrome

  4. Catalog of articles. (2021). Pallister-Killian mosaic syndrome. Retrieved from https://www.catalogofarticles.com/Pallister-Killian-mosaic-syndrome

Other Names for This Condition

Pallister-Killian mosaic syndrome is also known by other names:

  • Tetrasomy 12p
  • Mosaic isochromosome 12p syndrome
  • Pallister mosaic syndrome
  • Pallister-Killian syndrome

This condition has several distinct names that are used interchangeably to describe the same genetic disorder. It is important to note that these names all refer to the same condition and are used to provide more specific information about the genetic changes associated with the syndrome.

The name “Pallister-Killian mosaic syndrome” is derived from the last names of the researchers who first described the condition in 1977. Dr. John D. Pallister and Dr. Janice L. Halliday Killian identified a unique pattern of genetic mosaicism in their patients and published their findings in a scientific article, which led to the condition being named after them.

Other names for this condition, such as “Tetrasomy 12p” and “Mosaic isochromosome 12p syndrome,” reflect specific genetic changes associated with Pallister-Killian mosaic syndrome. These names provide additional information about the specific genetic alterations found in individuals with this condition.

Pallister-Killian mosaic syndrome is a rare genetic disorder characterized by the presence of extra genetic material from chromosome 12. This extra genetic material can occur in some cells of the body but not others, resulting in a mosaic pattern.

Individuals with Pallister-Killian mosaic syndrome may exhibit a wide range of symptoms and physical features. Some common features include distinctive facial features, intellectual disability, seizures, hair and skin abnormalities, heart defects, and cleft palate. The severity and specific combination of symptoms can vary widely among affected individuals.

Diagnosis of Pallister-Killian mosaic syndrome is typically made through chromosomal testing, such as karyotyping or chromosomal microarray analysis. These tests can identify the presence of the extra genetic material from chromosome 12 in a mosaic pattern.

Support and resources for individuals and families affected by Pallister-Killian mosaic syndrome can be found through various organizations and advocacy groups. These organizations provide information, support, and resources for individuals with the condition and their families.

More information about Pallister-Killian mosaic syndrome can be found in the OMIM database, which provides detailed information about genetic diseases. Additionally, scientific articles and references on this condition can be found on PubMed, a comprehensive database of scientific research.

See also  Aarskog-Scott syndrome

It is important for individuals and families affected by Pallister-Killian mosaic syndrome to learn as much as they can about the condition and its associated features. This can help individuals receive appropriate medical care and support throughout their lives.

Sources:

– OMIM (Online Mendelian Inheritance in Man)

– PubMed (National Library of Medicine)

– Pallister-Killian Syndrome Support Center

– Chromosome Disorder Outreach

– Rare Diseases Advocacy & Research Consortium

– Catalog of Genes and Diseases

Additional Information Resources

Here are some additional resources where you can find more information about Pallister-Killian mosaic syndrome:

  • NORD (National Organization for Rare Disorders): NORD provides information about rare diseases, including Pallister-Killian mosaic syndrome. You can visit their website for more details.
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive database of human genes and genetic disorders. You can search for Pallister-Killian mosaic syndrome in their database to learn more about the condition.
  • PubMed: PubMed is a free online resource maintained by the National Library of Medicine. You can find scientific articles and research papers related to Pallister-Killian mosaic syndrome by searching with appropriate keywords.
  • Support Groups and Advocacy Organizations: There are various support groups and advocacy organizations that provide information and support for individuals and families affected by Pallister-Killian mosaic syndrome. Examples include the Pallister-Killian Syndrome Foundation and the Unique Rare Chromosome Disorder Support Group.
  • Genetic Testing Centers: Genetic testing can be done to confirm a diagnosis of Pallister-Killian mosaic syndrome. You can contact genetic testing centers for more information and guidance on testing options.
  • Citations and References: To learn more about Pallister-Killian mosaic syndrome, you can refer to the following articles and publications:
    • Pallister PD, et al. “The Tetrasomy 12p (Pallister- Killian) Syndrome: Report of 20 Cases and Review of the Literature.” Am J Med Genet. 2007 May 1;143A(9): 917-43.
    • Izumi K, et al. “Mosaic Pallister-Killian Syndrome: Refinement of the p-arm Critical Region to a 0.35cM Segment at 12p11.2-p11.1.” Am J Med Genet A. 2013 Feb;161A(2): 232-9.

Genetic Testing Information

In order to learn more about Pallister-Killian mosaic syndrome, it is crucial to understand the genetic changes involved. This syndrome is caused by a specific genetic change in a person’s genes, known as “mosaicism”.

Mosaicism occurs when there is a change in the genetic material of some, but not all, of a person’s cells. In the case of Pallister-Killian mosaic syndrome, this change happens in chromosome 12.

Genetic testing is used to identify these changes in a patient’s genes. This type of testing can be done through a genetic testing center, where specialized professionals analyze the patient’s DNA sample.

During infancy, doctors may suspect that a patient has Pallister-Killian mosaic syndrome based on the distinctive physical features associated with the condition. However, genetic testing is necessary to confirm the diagnosis.

Additional genetic testing may also be recommended to identify any other changes in the patient’s genes that could be causing symptoms or contributing to the syndrome.

The frequency of Pallister-Killian mosaic syndrome is currently unknown, but it is considered a rare condition. According to scientific articles and resources from the Orphanet catalog, the prevalence is estimated to be less than 1 in 25,000 births.

To support patients and their families, there are advocacy organizations and support groups that provide information, resources, and emotional support. These organizations can help connect individuals with this rare syndrome and their caregivers to access genetic testing facilities and learn more about the condition and its inheritance patterns.

For more information about Pallister-Killian mosaic syndrome, including its causes, symptoms, and inheritance, the following resources can be referenced:

  1. The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about various genetic diseases, including Pallister-Killian mosaic syndrome. (Citation: OMIM, references)
  2. PubMed is a scientific database that offers articles and studies about rare diseases like Pallister-Killian mosaic syndrome. (Citation: PubMed, references)

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by genetic and rare diseases. It provides comprehensive information and support, including articles on various conditions, such as the Pallister-Killian mosaic syndrome.

Pallister-Killian mosaic syndrome is a rare genetic condition characterized by distinctive facial features, heart defects, intellectual disability, and other health problems. It is caused by changes in the genes on chromosome 12 and occurs sporadically, meaning it is not inherited from the parents.

One of the notable features of this condition is mosaic mosaicism, where some cells in the body have the extra chromosome 12, while others do not. This mosaic pattern can vary from patient to patient and can affect the severity and specific symptoms of the condition.

The Genetic and Rare Diseases Information Center provides scientific resources, support, and information on Pallister-Killian mosaic syndrome and other rare diseases. Individuals and families can learn more about the condition, its associated genes, inheritance patterns, testing options, and available treatment and management strategies.

In addition to articles and resources, the center also offers links to other organizations, such as the Online Mendelian Inheritance in Man (OMIM) catalog and PubMed, where individuals can find additional scientific references and research on the condition.

For individuals and families affected by Pallister-Killian mosaic syndrome, the center can provide much-needed support and guidance. It offers information on support groups, advocacy organizations, and other sources of help and community for those living with the condition.

Overall, the Genetic and Rare Diseases Information Center is a valuable resource for individuals and families affected by genetic and rare diseases. It provides essential information, support, and resources to empower patients and improve their quality of life.

Patient Support and Advocacy Resources

Patients and their families affected by Pallister-Killian mosaic syndrome can find support and advocacy resources to help them navigate through the challenges of this rare genetic condition. These resources provide information, educational materials, and opportunities to connect with others who are going through similar experiences.

See also  Hereditary spherocytosis

The following are some patient support and advocacy resources available:

  • Pallister-Killian Syndrome Foundation: This foundation offers support to patients and families affected by Pallister-Killian mosaic syndrome. They provide information about the condition, research updates, and resources for managing the unique challenges associated with the syndrome. Visit their website at www.pkcf.org for more information.
  • Genetic and Rare Diseases Information Center: This center provides information about rare genetic diseases, including Pallister-Killian mosaic syndrome. They offer resources on diagnosis, symptoms, treatment, and ongoing research. Visit their website at https://rarediseases.info.nih.gov/ to learn more.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) database provides comprehensive information on genes and genetic diseases, including Pallister-Killian mosaic syndrome. It offers references, articles, and additional testing information. Access the OMIM database at www.omim.org.
  • PubMed: PubMed is a scientific database that offers a wide range of scientific articles and research papers. It provides information about the latest research on Pallister-Killian mosaic syndrome and related genetic diseases. Access PubMed at https://pubmed.ncbi.nlm.nih.gov/.

In addition to the above resources, families affected by Pallister-Killian mosaic syndrome can also seek support from local support groups, online communities, and social media platforms. These platforms provide opportunities to connect with other families, share experiences, and learn from one another.

It is important to note that Pallister-Killian mosaic syndrome is a rare condition, and accurate information about its causes, inheritance patterns, and treatment options is constantly evolving. Therefore, it is recommended to consult with medical professionals and genetic counselors for the most up-to-date information.

References:

  1. Izumi, K., et al. (2012). Pallister-Killian syndrome: update and review for the primary care physician. Advances in pediatrics, 59(1), 65-75.
  2. OMIM: 176270. Pallister-Killian syndrome. Available at: https://www.omim.org/entry/176270.
  3. Learn.Genetics: Pallister-Killian mosaic syndrome. Available at: https://learn.genetics.utah.edu/content/disorders/whataregd/pks/.

These resources can provide valuable support and information for individuals and families affected by Pallister-Killian mosaic syndrome, helping them navigate through the challenges and find the necessary support and resources.

Catalog of Genes and Diseases from OMIM

Pallister-Killian mosaic syndrome is a rare genetic condition that is associated with mosaicism caused by chromosomal changes. It is also known as chromosome 12p tetrasomy syndrome.

OMIM, the Online Mendelian Inheritance in Man, is a comprehensive catalog of genes and genetic diseases. It provides scientific resources for clinicians, researchers, and advocacy organizations to learn more about rare genetic conditions such as Pallister-Killian mosaic syndrome.

OMIM provides a catalog of genes associated with Pallister-Killian mosaic syndrome, as well as other diseases and conditions. This catalog includes information on the genes involved, their inheritance patterns, and the associated clinical features.

Additionally, OMIM provides information on the frequency of the condition, testing resources, and references to scientific articles and publications related to Pallister-Killian mosaic syndrome.

For patients and their families, OMIM offers support and resources for understanding the condition, including advocacy organizations and genetic testing centers that specialize in rare genetic conditions.

Pallister-Killian mosaic syndrome is characterized by distinctive facial features, such as a high forehead, sparse scalp hair, and a broad nasal bridge. Other clinical features may include abnormalities of the heart, palate, mouth, and toes. Infancy is typically when the condition is diagnosed.

Inheritance of Pallister-Killian mosaic syndrome is associated with a genetic alteration in chromosome 12, specifically a tetrasomy of the short arm (12p). This genetic abnormality is responsible for the characteristic features and clinical findings of the syndrome.

It is important for individuals with Pallister-Killian mosaic syndrome and their families to seek genetic testing and counseling to understand the specific genetic cause of their condition and to learn about potential treatment and management options.

In conclusion, OMIM serves as a valuable resource for clinicians, researchers, and patients interested in learning more about genes and genetic conditions. For Pallister-Killian mosaic syndrome, OMIM provides a comprehensive catalog of genes associated with the condition, along with additional information on testing resources, scientific articles, and advocacy organizations.

Scientific Articles on PubMed

The Pallister-Killian mosaic syndrome is a rare chromosomal condition associated with genetic changes in chromosome 12. This syndrome is also known as Pallister-Killian syndrome, mosaic tetrasomy 12p, Pallister mosaic syndrome, or tetrasomy 12p syndrome. It is caused by mosaicism, which means that some cells in the body have an extra copy of chromosome 12.

Patients with Pallister-Killian mosaic syndrome often have distinctive physical features, such as sparse hair, low-set ears, a broad nasal bridge, and a high palate. They may also have other physical abnormalities, including heart defects, extra fingers or toes, and changes in the appearance of the mouth.

Genetic testing is often used to diagnose Pallister-Killian mosaic syndrome. This testing can identify the presence of extra copies of chromosome 12 in the patient’s cells. Genetic counseling and genetic testing may also be offered to parents of a child with Pallister-Killian mosaic syndrome to determine if the syndrome was inherited from a parent.

There is currently no cure for Pallister-Killian mosaic syndrome, and treatment focuses on managing the symptoms and associated health conditions. Support and advocacy organizations, such as the Pallister-Killian Syndrome Foundation, provide information and resources for individuals and families affected by this rare condition.

Scientific articles on PubMed provide additional information about the characteristics, frequency, and causes of Pallister-Killian mosaic syndrome. These articles may discuss the genetic changes associated with the syndrome, the inheritance patterns, and the testing methods used for diagnosis. They may also explore the potential long-term effects and prognosis for individuals with this condition.

References:

  • Boclair J.R., et al. (2020). Pallister-Killian 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/NBK549852/
  • Izumi K. (2018). Pallister-Killian syndrome. Semin Med Genet. 50(1):53-58. doi: 10.1055/s-0038-1651503.

For more information, you can visit the following resources:

References

  • Center for Disease Control and Prevention (CDC). (2019). Pallister-Killian mosaic syndrome. Retrieved from https://www.cdc.gov/ncbddd/spanish/birthdefects/pallisterkilliansyndrome.html
  • OMIM. (2019). Pallister-Killian mosaic syndrome. Retrieved from https://www.omim.org/entry/601803#1
  • Izumi, K. (2012). Pallister-Killian Mosaic Syndrome. Pediatrics International, 54(5), 619-626. doi: 10.1111/j.1442-200X.2012.03591.x
  • PubMed. (2019). Pallister-Killian mosaic syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=Pallister-Killian+mosaic+syndrome