22q133 deletion syndrome, also known as Phelan-McDermid syndrome, is a rare genetic condition characterized by the deletion of a segment of chromosome 22. It is named after the two researchers who first identified the syndrome. The syndrome affects multiple body systems and is associated with developmental delays, intellectual disability, and other medical conditions.

Individuals with 22q133 deletion syndrome may learn and develop at a slower pace compared to their peers. They may also have delayed speech and language development. Other common features of the syndrome include low muscle tone, feeding difficulties during infancy, and recurrent infections. Some individuals may also have autism spectrum disorder or seizures.

22q133 deletion syndrome is caused by the deletion of the SHANK3 gene on chromosome 22. This gene plays a role in brain development and function. The frequency of this deletion is estimated to be 1 in 4,000 to 1 in 10,000 individuals. Diagnosis of the syndrome is based on a genetic test called chromosomal microarray analysis.

There is currently no cure for 22q133 deletion syndrome, but management focuses on treating the individual’s specific symptoms and providing support for their developmental and medical needs. Research is ongoing to better understand the causes and inheritance of the condition, as well as to develop new therapeutic approaches.

For additional information on 22q133 deletion syndrome, you can visit the Phelan-McDermid Syndrome Foundation and other advocacy resources. Scientific articles and studies on the syndrome are available on databases like PubMed and OMIM. The website ClinicalTrials.gov also provides information on ongoing research studies and clinical trials related to the syndrome.

In conclusion, 22q133 deletion syndrome is a rare genetic condition caused by the deletion of a segment of chromosome 22. It is associated with developmental delays, intellectual disability, and other medical conditions. While there is currently no cure, ongoing research continues to contribute to our understanding of the syndrome and may lead to new treatment options in the future.

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Frequency

The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome, is a rare genetic condition. The frequency of this condition is estimated to be approximately 1 in 50,000 individuals. It affects both males and females equally.

The deletion of a segment of genes on chromosome 22q13.3 causes this syndrome. This abnormality is often the result of a de novo (new) mutation, meaning it is not inherited from the parents. However, there have been rare cases where the deletion is inherited from a parent who carries a balanced translocation involving chromosome 22.

Individuals with 22q13.3 deletion syndrome may exhibit a range of developmental and health issues. Some of the associated features include intellectual disability, delayed or absent speech, autism spectrum disorder, low muscle tone, and seizures. However, the severity and combination of symptoms can vary greatly between individuals.

To support individuals and families affected by 22q13.3 deletion syndrome, there are various resources available. The Phelan-McDermid Syndrome Foundation provides support, advocacy, and information for families. The Center for Genetic Diseases and Developmental Medicine offers clinical services, research, and genetic testing.

Additional information about the syndrome can be found in scientific articles and research studies. Resources such as OMIM (Online Mendelian Inheritance in Man) and PubMed provide citations and references for further reading.

Furthermore, there are ongoing clinical trials and studies investigating potential treatments and therapies for individuals with 22q13.3 deletion syndrome. ClinicalTrials.gov is a valuable resource for finding information about these trials.

In conclusion, 22q13.3 deletion syndrome is a rare genetic condition with a frequency of approximately 1 in 50,000 individuals. It is caused by the deletion of a segment of genes on chromosome 22q13.3. Individuals with this syndrome may experience a range of developmental and health issues. Support and resources are available to help individuals and families affected by this condition, including genetic testing, advocacy organizations, and ongoing research studies.

Causes

The main cause of 22q133 deletion syndrome is a genetic abnormality that occurs when a small piece of chromosome 22 is deleted. This deletion usually involves the loss of several genes, including the TBX1 gene. The specific genes that are deleted can vary among individuals, which can contribute to the variability of symptoms observed in patients with this syndrome.

Most cases of 22q133 deletion syndrome are not inherited, but occur sporadically as a random event during the formation of reproductive cells in one of the parents or during early embryonic development. However, in some cases, the deletion can be inherited from a parent who has a balanced translocation involving chromosome 22.

The frequency of 22q133 deletion syndrome is estimated to be approximately 1 in 4,000 to 1 in 6,000 live births. It is considered a rare syndrome.

Studies have shown that the loss of certain genes in the deleted segment of chromosome 22 is responsible for many of the characteristic features and health problems associated with 22q133 deletion syndrome. These genes are involved in the development of various organs and tissues during embryonic development, including the heart, thymus, and parathyroid glands.

Other genetic factors may also contribute to the condition. For example, variations in genes outside of the deleted region on chromosome 22 may modify the severity of symptoms or the risk for certain health problems.

Testing for 22q133 deletion syndrome can be done using various genetic tests, including fluorescent in situ hybridization (FISH) and chromosomal microarray analysis (CMA). These tests can detect the deletion of the segment of chromosome 22 that is characteristic of this syndrome.

For more information on 22q133 deletion syndrome and genetic testing, you can visit the websites of organizations such as the 22q133 Deletion Syndrome Foundation and the Phelan-McDermid Syndrome Foundation.

Support and resources for individuals with 22q133 deletion syndrome and their families are available through patient advocacy groups and genetic clinics. These organizations can provide information and support to help individuals and families navigate the medical and developmental challenges associated with this condition.

See also  PLG gene

References:

  • OMIM: 188400
  • PubMed: 28869624, 25658718
  • ClinicalTrials.gov: NCT03526100

Learn more about the gene and chromosome associated with 22q133 deletion syndrome

22q133 deletion syndrome, also known as Phelan-McDermid syndrome, is a rare genetic condition caused by the deletion of a small piece of chromosome 22. This abnormality affects the SHANK3 gene, which is located in the q133 segment of chromosome 22. The SHANK3 gene plays a crucial role in brain development and function, and its deletion can lead to various developmental and intellectual disabilities.

Scientific research and clinical studies have provided valuable information about this condition and its causes. Many articles and resources are available for patients, families, and healthcare professionals to learn more about 22q133 deletion syndrome. These resources include information about the genetic inheritance, symptoms, diagnostic testing, and management of the condition.

The Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive database of genes and genetic conditions, including 22q133 deletion syndrome. OMIM can be a useful resource for finding additional information about this condition, its genetic causes, and the frequency of occurrence.

Genetic testing is available to confirm the diagnosis of 22q133 deletion syndrome and to provide additional information about the specific genetic changes. Testing can be done through specialized genetic testing centers or through research studies. It is recommended that patients and families consult with a genetic counselor or healthcare provider to understand the benefits and limitations of genetic testing.

In addition to genetic testing, clinical trials may also be available for individuals with 22q133 deletion syndrome. 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 this condition and contribute to scientific research that aims to improve understanding and treatment options.

Support and advocacy organizations play a crucial role in providing resources, support, and information to individuals and families affected by 22q133 deletion syndrome. These organizations often provide educational materials, connect families with other affected individuals, and raise awareness about the condition. They can be an invaluable source of support and guidance for those navigating the challenges of living with this rare genetic condition.

References:

  • Phelan K, McDermid HE. The 22q133 Deletion Syndrome (Phelan-McDermid Syndrome). Mol Syndromol. 2012;2(3-5):186-201. doi:10.1159/000443076. PubMed PMID: 22754676;
  • Genet Med. 2010 Sep;12(9):605-9. doi:10.1097/GIM.0b013e3181ec97f2. PubMed PMID: 20736988;
  • OMIM catalog
  • ClinicalTrials.gov

Inheritance

The 22q13.3 deletion syndrome, also known as Phelan-McDermid syndrome or simply 22q13 deletion syndrome, is a rare genetic condition caused by the deletion of a segment of chromosome 22. The syndrome is named after two researchers, Dr. Katy Phelan and Dr. Heather McDermid, who first described the condition in the scientific literature.

The 22q13.3 deletion syndrome has an autosomal dominant inheritance pattern, meaning that a person with the syndrome has a 50% chance of passing it on to their children. However, the condition can also occur sporadically, meaning it can happen without a family history.

The deletion on chromosome 22q13.3 can occur in two ways. The most common way is through a de novo deletion, which means it happens for the first time in the affected individual and is not inherited from their parents. However, in rare cases, the deletion can also be inherited from a parent who carries a balanced translocation involving chromosome 22.

The 22q13.3 deletion affects many genes in the deleted segment, including the SHANK3 gene, which is believed to be the major gene responsible for the clinical features of the syndrome. The SHANK3 gene is involved in the development of synapses, the connections between brain cells. It is thought that the loss of SHANK3 function leads to the developmental and cognitive impairments seen in individuals with the syndrome.

The exact causes of the 22q13.3 deletion syndrome are still not fully understood, and research is ongoing. However, it is believed to be a genetic condition, and there are several known genetic changes that can contribute to the development of the syndrome. These include deletions, duplications, and other structural rearrangements of the chromosome 22q13.3 region.

There are resources available for individuals and families affected by the 22q13.3 deletion syndrome. These include genetic testing, clinical trials, support groups, and advocacy organizations. The National Center for Biotechnology Information (NCBI) provides information on the condition, including genetic testing centers and patient support groups. The Online Mendelian Inheritance in Man (OMIM) database and PubMed are also good sources for additional information and scientific articles on the syndrome.

Other Names for This Condition

  • 22q133 deletion syndrome
  • Chromosome 22q133 deletion syndrome
  • 22q deletion syndrome
  • DiGeorge syndrome
  • Shprintzen syndrome
  • Velocardiofacial syndrome
  • Conotruncal anomaly face syndrome
  • Takao syndrome
  • Catch 22
  • Digeorge sequence
  • Sedlackova syndrome
  • Phelan-McDermid syndrome
  • Deletion 22q133 syndrome
  • Monosomy 22q133
  • Microdeletion 22q133
  • 22q133.P13 deletion syndrome
  • Phelan-McDermid syndrome/microcephaly/developmental delay

Additional Information Resources

For more information about 22q13.3 deletion syndrome, you can refer to the following resources:

  • Phelan-McDermid Syndrome Foundation: This organization provides support, information, and resources for individuals and families affected by Phelan-McDermid Syndrome, which is associated with the 22q13.3 deletion syndrome.

    • Website: https://22q13.org/
  • OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders that includes information on 22q13.3 deletion syndrome.

  • National Center for Advancing Translational Sciences: This center provides information on clinical trials for various diseases, including 22q13.3 deletion syndrome.

  • PubMed: PubMed is a database of scientific articles and studies that can provide in-depth information on the genetic causes, clinical features, and developmental outcomes associated with 22q13.3 deletion syndrome.

  • Genetic Testing Registry: This registry provides information on available genetic tests for 22q13.3 deletion syndrome, including testing centers and laboratories.

These resources can help you learn more about the condition, find patient support groups, access clinical trials, and get additional information from scientific research articles and genetic testing centers.

Genetic Testing Information

Genetic testing plays a crucial role in understanding the 22q133 deletion syndrome, a rare genetic disorder. This syndrome occurs when a small segment of chromosome 22 is missing. The deletion of this segment can lead to various health and developmental issues in affected individuals.

Genetic testing allows healthcare professionals to identify if a patient has the 22q133 deletion syndrome. There are different types of genetic tests available that can detect this deletion, including chromosomal microarray analysis and fluorescence in situ hybridization (FISH) tests.

During genetic testing, a sample of the patient’s DNA is collected, usually through a blood sample. This DNA is then analyzed in a laboratory to determine if there is a deletion in the 22q133 region. The results of the genetic testing can provide valuable information about the patient’s condition and help guide their healthcare and treatment options.

See also  SLCO1B1 gene

It is important to note that genetic testing for the 22q133 deletion syndrome can also identify other genetic abnormalities, such as translocations, which may be associated with similar health issues. By testing the patient’s DNA, healthcare professionals can gather additional information about the underlying genetic causes of their symptoms.

There are several resources available for individuals who want to learn more about genetic testing for the 22q133 deletion syndrome. The National Center for Advancing Translational Sciences (NCATS) provides a free online catalog of genetic testing resources, including clinical trials and scientific articles, on their website. Additionally, PubMed and OMIM are valuable databases that contain research and information about rare genetic diseases.

Genetic testing is a valuable tool in the diagnosis and management of the 22q133 deletion syndrome. If you or someone you know is affected by this syndrome, consider discussing genetic testing with a healthcare professional to gain a better understanding of the condition and access appropriate support and resources.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an information resource for patients, families, and healthcare providers about genetic and rare diseases. GARD provides information about this rare condition, 22q13.3 deletion syndrome, which is associated with a segment of genetic material that is missing from chromosome 22.

The deletion of this gene segment, also known as Phelan-McDermid syndrome, can result in a variety of developmental and health issues. Individuals with this condition may have developmental delays, intellectual disability, speech and language impairments, behavioral challenges, and other medical problems. The frequency of this syndrome is not well-established, but it is considered a rare condition.

Genetic testing can be done to confirm the diagnosis of 22q13.3 deletion syndrome, and additional testing may be needed to look for other genetic abnormalities that could contribute to the patient’s symptoms. Genetic counseling is also recommended for individuals and families affected by this condition to learn about inheritance patterns and the possible impact on future pregnancies.

GARD provides access to information about this condition, including articles, research studies, and genetic testing resources. The center also offers references to scientific publications, such as PubMed and OMIM, which can provide additional information about the genetics, causes, and clinical features of 22q13.3 deletion syndrome.

In addition to providing information, GARD also offers support and advocacy resources for individuals and families affected by genetic and rare diseases. The center can connect patients and families with patient support groups, advocacy organizations, and clinical trial listings.

ClinicalTrials.gov is a valuable resource for finding ongoing clinical trials that may be relevant for individuals with 22q13.3 deletion syndrome. These trials can provide individuals with access to potential treatments and contribute to the scientific understanding of this condition.

Resources Learn More
Genetic and Rare Diseases Information Center https://rarediseases.info.nih.gov/
PubMed https://pubmed.ncbi.nlm.nih.gov/
OMIM https://www.omim.org/
ClinicalTrials.gov https://clinicaltrials.gov/

Please note that the information provided by GARD is for educational purposes only and should not be used as a substitute for professional medical advice. It is important to consult with a healthcare provider or genetic counselor for personalized guidance and care.

Citation: Genetic and Rare Diseases Information Center. (2021). 22q13.3 Deletion Syndrome. Retrieved from https://rarediseases.info.nih.gov/diseases/10111/22q133-deletion-syndrome

Patient Support and Advocacy Resources

An important aspect of living with 22q133 deletion syndrome is finding additional patient support and advocacy resources. These resources can provide valuable information and support to individuals and families affected by this rare genetic condition.

Here are some resources that patients and their families can turn to for support, information, and advocacy:

  • The 22q Family Foundation: This non-profit organization offers support and resources for individuals and families affected by 22q133 deletion syndrome. Their website provides information about the condition, access to support groups, and educational materials.
  • Genetic and Rare Diseases Information Center: The Genetic and Rare Diseases Information Center (GARD) offers comprehensive information about rare diseases, including 22q133 deletion syndrome. Their website provides information about the causes, symptoms, inheritance, and frequency of the condition.
  • OMIM: The Online Mendelian Inheritance in Man (OMIM) catalog provides detailed information about genes and genetic disorders, including 22q133 deletion syndrome. This resource can be helpful for individuals looking to learn more about the genes and associated symptoms of the condition.
  • PubMed: PubMed is a database of scientific articles and research studies. By searching for “22q133 deletion syndrome,” patients and their families can find more information about the condition and its associated features.
  • Phelan-McDermid Syndrome Foundation: The Phelan-McDermid Syndrome Foundation is dedicated to supporting individuals and families affected by Phelan-McDermid syndrome, a rare genetic condition that can be caused by a deletion in the 22q133 chromosome segment. This resource offers support groups, educational materials, and information about clinical trials.

These are just a few examples of the many resources available to individuals and families affected by 22q133 deletion syndrome. By utilizing these support and advocacy resources, patients can connect with others who understand their experience and access valuable information about their condition.

It’s important for patients and their families to stay informed about the latest research and advancements in the field of genetic testing and clinical trials. Websites like ClinicalTrials.gov provide information about ongoing studies and trials that may be relevant to individuals with 22q133 deletion syndrome. By participating in these studies, patients can contribute to the scientific understanding of the condition and potentially access new treatments or interventions.

In summary, patients and their families should not hesitate to seek out additional support and advocacy resources for 22q133 deletion syndrome. By utilizing these resources, individuals can learn more about their rare genetic condition, connect with others in the community, and access valuable support and information, all free of charge.

Research Studies from ClinicalTrials.gov

The 22q133 deletion syndrome, also known as Phelan-McDermid syndrome, is a rare developmental disorder caused by the deletion of a small segment of chromosome 22. This genetic abnormality affects the SHANK3 gene, among other genes in the deleted region. Patients with this syndrome often experience developmental delays, intellectual disability, and other health problems.

ClinicalTrials.gov is a catalog of research studies focused on rare diseases like the 22q133 deletion syndrome. It provides valuable information and resources for patients, caregivers, and healthcare professionals seeking to learn more about this condition and support research efforts. Through ClinicalTrials.gov, you can find references to research articles, clinical studies, and additional resources related to the genetic basis, causes, inheritance patterns, and associated health issues of the 22q133 deletion syndrome.

See also  Factor V deficiency

One of the research studies listed on ClinicalTrials.gov is about the frequency and contribution of SHANK3 gene variants to the overall genetic architecture of neurodevelopmental disorders. This study aims to analyze the prevalence of SHANK3 gene mutations in patients with various developmental disorders and to understand the impact of these mutations on individual health and developmental outcomes.

Another study focuses on testing new therapeutic interventions for individuals with the 22q133 deletion syndrome. Researchers are investigating potential treatments and interventions to improve cognitive and behavioral outcomes in patients. By participating in these clinical trials, patients and their families may contribute to advancing our understanding of the condition and potentially find new ways to support individuals with the 22q133 deletion syndrome.

In addition to the scientific studies, ClinicalTrials.gov also provides advocacy and patient resources for individuals and families affected by the 22q133 deletion syndrome. These resources include information about genetic testing, healthcare centers specializing in the condition, and support groups that can provide emotional and practical assistance.

For more information about ongoing research studies, clinical trials, and resources on the 22q133 deletion syndrome, individuals can visit ClinicalTrials.gov and search for the condition by its various names, such as Phelan-McDermid syndrome or “chromosome 22q133 deletion”. The website also offers links to related articles and references from PubMed and OMIM, providing a comprehensive database for learning and staying updated on the latest advancements in the field.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides valuable genetic information about various diseases and genes. It serves as a vital resource for researchers, healthcare professionals, and patients.

Genetic disorders are caused by abnormalities in specific genes or chromosomal segments. The 22q133 deletion syndrome is a rare genetic condition resulting from the deletion of a segment of chromosome 22. This syndrome is characterized by developmental and health issues, and patients may experience a wide range of symptoms.

OMIM offers a catalog of genes and diseases associated with the 22q133 deletion syndrome, providing in-depth information about their inheritance patterns, clinical features, and more. This catalog serves as a valuable resource for understanding the genetic basis of this condition.

Patients and healthcare professionals can utilize OMIM to learn more about the genes associated with the 22q133 deletion syndrome, their functions, and their potential role in other diseases. The database also provides additional resources and references for further research, including scientific studies and clinical trials.

OMIM’s catalog is regularly updated with new information as research progresses. It provides a platform for scientists and researchers to contribute their findings, leading to a better understanding of the underlying causes and potential treatments for the 22q133 deletion syndrome.

For rare genetic conditions like the 22q133 deletion syndrome, resources such as OMIM play a crucial role in supporting patient advocacy efforts and promoting awareness. The comprehensive information available on OMIM can also assist healthcare professionals in making informed decisions regarding genetic testing, diagnosis, and treatment options.

In summary, OMIM’s catalog of genes and diseases associated with the 22q133 deletion syndrome offers a wealth of information and resources for researchers, healthcare professionals, and patients. It serves as an invaluable tool in the study and understanding of this rare genetic condition.

Scientific Articles on PubMed

rare genetic diseases can be difficult to catalog and understand due to their low frequency. However, the 22q133 deletion syndrome is a well-studied condition with a growing body of scientific literature.

The 22q133 deletion syndrome is caused by the deletion of a small segment of chromosome 22, which leads to developmental abnormalities and a range of physical and cognitive challenges. Researchers have identified several genes within this deleted segment that contribute to the associated symptoms.

Scientific articles on PubMed provide valuable information about the genetic causes, inheritance patterns, and clinical manifestations of the 22q133 deletion syndrome. These articles also offer insights into potential treatments and management strategies for patients with this condition.

Through research published on PubMed, scientists have learned more about the specific genes involved in the 22q133 deletion and their role in normal development. This knowledge can inform diagnostic testing and genetic counseling, allowing healthcare providers to better support patients and their families.

In addition to scientific articles, the 22q133 Deletion Syndrome Center and Phelan-McDermid Syndrome Foundation provide resources and support for individuals and families affected by this rare condition. These organizations offer educational materials, advocacy initiatives, and opportunities to participate in clinical trials.

ClinicalTrials.gov is another valuable resource for individuals seeking more information about current research studies and available clinical trials related to the 22q133 deletion syndrome. These studies aim to uncover new insights into the condition and develop more effective treatments.

For a comprehensive overview of the 22q133 deletion syndrome, researchers and healthcare professionals can refer to the Online Mendelian Inheritance in Man (OMIM) database. This database provides detailed information on genetic disorders, including the 22q133 deletion syndrome, along with references to relevant scientific articles.

Genetic testing is available to confirm a diagnosis of the 22q133 deletion syndrome. This testing can be conducted free of charge through certain research initiatives and genetic testing centers. It is important for individuals with symptoms suggestive of the condition to consult with a healthcare professional to discuss the appropriateness of genetic testing.

In conclusion, scientific articles on PubMed and resources provided by organizations such as the 22q133 Deletion Syndrome Center and Phelan-McDermid Syndrome Foundation offer valuable information and support for individuals and families affected by the 22q133 deletion syndrome. These resources contribute to a better understanding of the condition and aid in the development of improved treatments and management strategies.

References