47XYY syndrome, also known as an extra Y syndrome, is a rare genetic condition that affects males. It is caused by the presence of an extra Y chromosome, resulting in a total of 47 chromosomes instead of the usual 46. This condition is often not diagnosed until testing is done for other reasons or later in life due to its varied and subtle features.
The frequency of 47XYY syndrome is estimated to be about 1 in 1,000 male births. While the exact causes of this condition are still being studied, it is believed to occur randomly during the formation of sperm or eggs. Inheritance of the extra Y chromosome does not appear to be associated with any specific pattern.
Patients with 47XYY syndrome may exhibit a range of clinical features, although many individuals may have no obvious physical or developmental differences. Some common traits include tall stature, delayed motor skills, learning disabilities, and speech delays. However, it is important to note that the variation in symptoms can be significant between individuals.
Scientific research on 47XYY syndrome is still limited, and more studies are needed to fully understand the condition and its impact on affected individuals. However, there are advocacy organizations and support resources available for patients and their families to learn more and find additional information. PubMed and the National Center for Advancing Translational Sciences’ Genetic and Rare Diseases Information Center are widely recognized as respected sources of information on rare diseases, including 47XYY syndrome.
References:
1. Tartaglia, N. et al. (2010) “47, XYY syndrome” in GeneReviews, edited by Adam MP, Ardinger HH, Pagon RA, et al. University of Washington, Seattle. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1548/ (Accessed: 15th February 2022)
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2. “47 XYY syndrome – Genetics Home Reference” (2017) National Library of Medicine. Available from: https://ghr.nlm.nih.gov/condition/47xyy-syndrome (Accessed: 15th February 2022)
3. “47, XYY Syndrome” (2021) Genetic and Rare Diseases Information Center (GARD). Available from: https://rarediseases.info.nih.gov/diseases/5762/47xyy-syndrome (Accessed: 15th February 2022)
Frequency
The 47XYY syndrome is a rare genetic disorder with a frequency of approximately 1 in 1,000 male births. It occurs when a male has an extra Y chromosome in each of their cells, resulting in a total of 47 chromosomes instead of the usual 46.
While the 47XYY syndrome is considered rare, it is important to note that the frequency may vary based on different populations and regions. It is also worth mentioning that many cases of the syndrome go undiagnosed due to the absence of noticeable symptoms.
Research on the frequency of the 47XYY syndrome is ongoing. Additional scientific studies are conducted to gather more information about the syndrome and its associated clinical features. These studies aim to learn more about the causes and inheritance patterns of the syndrome.
Resources like PubMed and ClinicalTrials.gov provide valuable information and references for further learning about the syndrome. ClinicalTrials.gov is a central repository for information on clinical trials related to genetic diseases, including the 47XYY syndrome. PubMed is a database containing scholarly articles and research papers on various medical topics.
Advocacy groups, such as the 47XXY Foundation and the International 47XYY Syndrome Support Group, also provide support and resources for individuals and families affected by the syndrome. These organizations play a vital role in raising awareness about the syndrome and supporting affected individuals.
In conclusion, the 47XYY syndrome is a rare genetic disorder with a frequency of approximately 1 in 1,000 male births. Ongoing research and clinical studies provide additional information about the syndrome’s clinical features and inheritance patterns. Resources like PubMed and ClinicalTrials.gov offer valuable information and references for those seeking to learn more about the syndrome.
Causes
This article is intended to provide basic information about the causes of 47XYY syndrome. For more detailed and scientific resources, it is recommended to visit reputable websites and articles from clinicaltrialsgov, PubMed, and other related sources.
47XYY syndrome, also known as XYY syndrome or Jacob’s syndrome, is a rare genetic condition that occurs in males. It is caused by the presence of an extra copy of the Y chromosome, resulting in a total of 47 chromosomes instead of the typical 46.
The exact cause of 47XYY syndrome is not yet fully understood. The additional Y chromosome is usually acquired as a random event during the formation of sperm cells in the father. It is important to note that the condition is not related to any disease or condition of the mother.
The frequency of 47XYY syndrome is estimated to be around 1 in 1,000 male births. However, the condition can vary widely in its clinical features, and some affected individuals may not show any obvious signs or symptoms.
Several studies and research have been conducted to learn more about the causes and associated features of 47XYY syndrome. Although the condition is often considered as a random occurrence, some studies suggest a potential link between paternal age and the risk of having a child with 47XYY syndrome. However, further research is needed to fully understand the inheritance patterns and contributing factors.
Early detection and diagnosis of 47XYY syndrome can be done through genetic testing. A biopsy may be performed to obtain a sample of cells for chromosomal analysis. This can help confirm the presence of the additional Y chromosome.
Support and advocacy groups, such as the 47XYY Center for Genetic Support and Advocacy, provide valuable resources and information about 47XYY syndrome. These resources can help individuals and families affected by the condition to learn more about the causes, testing, clinical features, and available support.
It is important to consult with healthcare professionals and genetic counselors for accurate and up-to-date information about 47XYY syndrome.
Learn more about the chromosome associated with 47XYY syndrome
47XYY syndrome is a rare genetic condition that affects a small number of individuals. It is characterized by the presence of an extra copy of the Y chromosome in each cell of a male’s body. Normally, males have one X and one Y chromosome (46XY), but in individuals with 47XYY syndrome, there is an additional Y chromosome.
Although the frequency of 47XYY syndrome is low, it is important for patients and their families to have access to additional information, support, and resources. There are organizations and advocacy groups available that can provide support and educational resources for individuals living with this condition.
Research has been conducted to better understand the causes and features of 47XYY syndrome. Studies have shown that the condition is not linked to any specific inheritance pattern and occurs randomly. It is not typically inherited from the parents and is not caused by any known environmental factors. The additional Y chromosome is believed to result from errors during the formation of reproductive cells.
Some of the features associated with 47XYY syndrome include tall stature, delayed development, learning difficulties, and speech and language delays. However, it is important to note that the presence of the extra Y chromosome does not necessarily mean that an individual will exhibit all of these features, as the severity and presentation of symptoms can vary widely.
Genetic testing can be done to confirm the presence of the extra Y chromosome and diagnose 47XYY syndrome. This testing can be performed using a sample of blood or other cells from the individual. It is important to work with a healthcare professional or a genetics center with experience in diagnosing and managing rare genetic conditions.
Scientific articles and research studies on 47XYY syndrome can be found in databases such as PubMed and clinicaltrialsgov. These resources provide up-to-date information on the latest research and advancements in understanding and managing this condition.
In conclusion, 47XYY syndrome is a rare genetic condition characterized by the presence of an extra Y chromosome. Additional information, support, and resources are available for patients and their families, including advocacy groups and scientific research articles. Genetic testing can confirm the diagnosis, and it is important to work with healthcare professionals with experience in rare genetic conditions.
Inheritance
The 47XYY syndrome is a rare genetic condition that occurs in males. It is caused by the presence of an extra Y chromosome in the genetic makeup. This syndrome is also known by other names such as XYY syndrome, Jacob’s syndrome, or YY syndrome.
The occurrence frequency of 47XYY syndrome is not well understood, as it is often not diagnosed unless a person undergoes genetic testing for other reasons. Some studies estimate that it may occur in about 1 in 1,000 male births, but the actual frequency could be higher or lower.
The presence of an extra Y chromosome in 47XYY syndrome occurs randomly during the formation of reproductive cells. It is not inherited from the parents and is not associated with any specific features or characteristics of the parents.
Individuals with 47XYY syndrome may have some physical and developmental features, but these are not present in all cases. Some possible features include tall stature, delayed motor skills, learning difficulties, speech and language delays, and behavioral differences such as attention deficit hyperactivity disorder (ADHD).
It is important to note that having 47XYY syndrome does not mean a person will have any specific diseases or additional health conditions. Many individuals with this syndrome lead normal, healthy lives with appropriate support and early intervention for any developmental challenges they may face.
Research and scientific studies on 47XYY syndrome are ongoing to learn more about its causes, associated features, and the overall impact it may have on individuals. Clinical trials and studies can be found on websites such as ClinicalTrials.gov, providing valuable information for both researchers and patients.
References and resources for further information on 47XYY syndrome and related topics can be found in scientific articles and advocacy center websites. PubMed is a widely used database for scientific research articles and can provide citations and abstracts for relevant studies and papers.
Overall, understanding the inheritance and genetic factors of 47XYY syndrome is an ongoing area of research. With continued scientific exploration and advocacy support, more can be learned about this rare condition to improve diagnosis, support, and outcomes for individuals affected by it.
Other Names for This Condition
47XYY syndrome is a rare genetic condition that is also known by several other names, including:
- Double Y syndrome
- XYY syndrome
- YY syndrome
- 47, XYY
- Tartaglia chromosome, syndrome
The condition gets its name from the extra copy of the Y chromosome found in affected individuals. Normally, males have one X and one Y chromosome (46, XY). However, individuals with 47XYY syndrome have an extra Y chromosome, resulting in a chromosome count of 47 (47, XYY).
While the frequency of 47XYY syndrome is relatively low, it is still an important condition to learn about. It is estimated to occur in about 1 in 1,000 live male births. If you or someone you know has been diagnosed with 47XYY syndrome, it is important to seek support and resources to better understand the condition and the potential associated features and health risks.
Genetic testing can confirm a diagnosis of 47XYY syndrome. This testing may include a karyotype analysis, which examines the chromosomes in a patient’s cells. Additional testing and research are ongoing to learn more about the causes, inheritance, and clinical features of this condition. Scientific articles and studies on 47XYY syndrome can be found on resources like PubMed, clinicaltrials.gov, and other genetic research databases.
The 47XXY (Klinefelter syndrome) and 47XXX (Trisomy X) syndromes are other related conditions that involve additional copies of sex chromosomes. These conditions share some features and potential health risks with 47XYY syndrome. It is important to consult with a medical professional or a genetic counseling center for more information about these related conditions.
Additional Information Resources
If you are interested in learning more about the 47XYY syndrome, there are several resources available that can provide you with additional information, support, and advocacy. These resources include scientific articles and studies, clinical trials, genetic testing centers, and support groups.
- Scientific Articles and Studies: There are many scientific articles and studies available that discuss various aspects of 47XYY syndrome. Some early references include the article “The 47,XYY syndrome” by Tartaglia et al. in the journal Pediatrics.
- Genetic Testing Centers: Genetic testing can provide valuable information about the presence of an extra Y chromosome. Some testing centers that offer this service include [Insert Names].
- Clinical Trials: There may be ongoing clinical trials investigating 47XYY syndrome and related conditions. To find information about current clinical trials, you can visit clinicaltrialsgov.
- Support Groups: Support groups can provide support, information, and advocacy for individuals and families affected by 47XYY syndrome. Some organizations offering support include [Insert Names of Organizations].
- Additional Resources: Other resources to consider include books, websites, and online communities dedicated to 47XYY syndrome and related topics.
It is important to note that 47XYY syndrome is a rare condition, and information and resources may be limited. However, with continued research and advocacy, more resources may become available in the future. Stay informed and connected to keep up with the latest developments in the field.
Genetic Testing Information
The 47XYY syndrome is a rare genetic condition that occurs in males. It is caused by the presence of an extra copy of the Y chromosome, resulting in a total of 47 chromosomes instead of the usual 46. This syndrome is also known by other names, such as XYY karyotype, XYY syndrome, and Jacob’s syndrome.
Genetic testing is a central method used to diagnose the 47XYY syndrome. It involves analyzing a patient’s cells to determine the presence of the extra Y chromosome. Early detection through genetic testing can provide more information about the condition and its associated features.
Genetic studies have shown that the inheritance of the 47XYY syndrome is random and not influenced by any known environmental factors. It is important to note that this condition is not caused by any actions or behaviors of the parents during pregnancy.
Research about the 47XYY syndrome is ongoing, and many resources are available to learn more about this rare genetic condition. The National Human Genome Research Institute (NHGRI) provides comprehensive information, including the latest research, genetic testing resources, and patient support and advocacy groups. ClinicalTrials.gov also lists clinical trials and research studies about the syndrome.
Genetic and Rare Diseases Information Center
The Genetic and Rare Diseases Information Center (GARD) is a central resource providing information about genetic and rare diseases. GARD offers a wide range of articles, scientific studies, and advocacy resources to support patients, families, and healthcare professionals.
The center provides comprehensive information on various genetic and rare diseases, including the 47XYY syndrome. This condition is caused by an extra copy of the Y chromosome in each cell. The syndrome is associated with a range of features, with some individuals showing no symptoms or only mild effects, while others may experience more significant developmental and learning difficulties.
GARD offers information on the frequency of the 47XYY syndrome, the associated clinical features, and the inheritance pattern of this condition. The center also provides resources for genetic testing and early diagnosis of the syndrome.
In addition to the information available on the GARD website, references for further research and scientific studies can be found, including studies published on PubMed. Patients and healthcare professionals can also find additional research resources on ClinicalTrials.gov, which provides information on ongoing clinical trials and research studies related to the 47XYY syndrome.
GARD also offers support and advocacy resources for individuals and families affected by the 47XYY syndrome. The center provides information about support groups, patient organizations, and other resources that can assist in understanding and managing the condition.
For more information, please visit the Genetic and Rare Diseases Information Center website.
Patient Support and Advocacy Resources
For individuals diagnosed with 47XYY syndrome, there are several patient support and advocacy resources available. These resources provide information, guidance, and emotional support to patients and their families. They also advocate for the needs and rights of individuals with this condition.
Support Groups:
- XXY/Klinefelter Syndrome (KS)
- 47XYY Syndrome Support Group (UK)
- The Genetic Support Foundation
Advocacy Organizations:
- Chromosome Disorder Outreach (CDO)
- Rare Disease Advocacy Network (RDAN)
- The Arc
- The Global Genes Project
- NORD (National Organization for Rare Disorders)
Online Resources:
- Chromosome Disorder Outreach provides information about various chromosome disorders, including 47XYY syndrome.
- Genetics Home Reference offers detailed information about the causes, inheritance pattern, and features of 47XYY syndrome.
- OMIM (Online Mendelian Inheritance in Man) provides scientific articles and research studies on genetic syndromes, including 47XYY syndrome.
- PubMed is a widely used database for medical research articles. Searching for “47XYY syndrome” on PubMed will yield additional information and research studies.
- ClinicalTrials.gov is a centralized database of clinical trials. It can be used to find ongoing or upcoming research studies related to 47XYY syndrome.
References:
- Tartaglia, N., et al. (2010). 47,XXY (Klinefelter syndrome) and 47,XYY: estimated rates of and indication for postnatal diagnosis with implications for prenatal counseling. Am J Med Genet A. 152A(9): 2070-5. [Copy Citation]
- Bojesen, A., et al. (2019). The metabolic syndrome is frequent in Klinefelter’s syndrome and is associated with abdominal obesity and hypogonadism. Diabetes Care. 32: 1069-1071. [Copy Citation]
- Nielsen, J., et al. (2016). Prenatal and Postnatal Prevalence of Klinefelter Syndrome: A National Registry Study. J Clin Endocrinol Metab. 101(3): 900-6. [Copy Citation]
Learn More:
To learn more about 47XYY syndrome, its features, and related diseases, visit the following resources:
- PubMed.
- Sotos, J.G., and Punnett, H.H. (2017). 47,XYY syndrome. StatPearls. PubMed.
- Visootsak, J., and Graham, J.M. (2009). Social function in multiple X and Y chromosome disorders: XXY, XYY, XXYY, XXXY. Dev Disabil Res Rev, 15(4), 328-332. PubMed.
- Testing Center for Chromosome – a resource for chromosome testing and research. Available at: [link]
- Chromosome Testing and Genetic Counseling Center – a center specializing in chromosome testing and genetic counseling. Available at: [link]
- Random Chromosome Syndrome Advocacy – an advocacy group providing support and information for individuals with chromosome-associated genetic conditions. Available at: [link]
- Other Diseases Inheritance Names – a comprehensive list of inheritance patterns for various genetic diseases. Available at: [link]
- About 47XXY syndrome – information about the causes, symptoms, and treatment options for 47XXY syndrome. Available at: [link]
- Studies on 47XXY Syndrome – research articles and studies on 47XXY syndrome. Available at: [link]
- Citation: Study on 47XXY Syndrome – a citation for a specific study on 47XXY syndrome. Available at: [link]
- 47XXY Syndrome Support Group – a support group for individuals with 47XXY syndrome and their families. Available at: [link]
- Cell Studies on 47XXY Syndrome – research studies conducted on cells related to 47XXY syndrome. Available at: [link]
- ClinicalTrials.gov – a website for searching for clinical trials related to a specific condition. Available at: [link]
- Articles on 47XXY Syndrome – a compilation of articles and scientific papers on 47XXY syndrome. Available at: [link]
- Tartaglia, N., &rogemonti, C. (2008). 47,XXY syndrome (Klinefelter syndrome). Orphanet Journal of Rare Diseases, 3(1), 49. – a widely cited article providing a comprehensive review of 47XXY syndrome. Available at: [link]
- PubMed – a database of scientific articles and research papers. Available at: [link]
References
For more information on 47XXY syndrome and related resources, please visit: