The 15q11-q13 duplication syndrome is a rare genetic condition that affects the 15th chromosome. This syndrome is associated with a range of developmental delays and behavioral issues, including autism spectrum disorders. Individuals with this syndrome may also experience hearing loss and have an increased risk of infections.

The duplication of genes in the 15q11-q13 region is believed to be the cause of this condition. This extra copy of genetic material can disrupt normal brain development and function, leading to the symptoms observed in patients with 15q11-q13 duplication syndrome. The syndrome is usually inherited from a parent who carries the duplication.

Signs and symptoms of 15q11-q13 duplication syndrome can vary widely from patient to patient. Some individuals may have mild symptoms, while others may be significantly affected. Common features include developmental delays, cognitive impairment, and problems with speech and language. Some patients may also exhibit behavioral problems, such as aggression or hyperactivity.

Diagnosis of the 15q11-q13 duplication syndrome is typically made through genetic testing. This can involve a variety of tests, including chromosomal microarray analysis or fluorescence in situ hybridization. Testing can help identify the specific genes involved in the duplication and provide information about the inheritance pattern.

While there is no cure for 15q11-q13 duplication syndrome, treatment is focused on managing symptoms and providing support. This may include therapies such as speech and occupational therapy, as well as special education programs tailored to the individual’s needs. Regular follow-up care is important to monitor the patient’s development and adjust treatment plans as needed.

Research and resources for 15q11-q13 duplication syndrome are ongoing. Organizations such as the 15q Research Foundation and the Dup15q Alliance provide support, information, and advocacy for families affected by this condition. Scientific articles and studies published on PubMed and OMIM provide further insight into the genetic and clinical aspects of the syndrome.

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In conclusion, 15q11-q13 duplication syndrome is a rare genetic condition that can cause a range of developmental and behavioral issues in affected individuals. While there is no cure, early diagnosis and intervention can help improve outcomes and quality of life. Ongoing research and support from advocacy organizations are crucial for advancing our understanding of this condition and providing assistance to those affected.

Frequency

The 15q11-q13 duplication syndrome is a rare genetic condition that affects a small percentage of individuals. The frequency of this syndrome in the general population is estimated to be around 1 in 15,000 to 1 in 30,000 individuals.

The 15q11-q13 region on chromosome 15 contains a cluster of genes that can be duplicated, resulting in an extra copy of these genes. This duplication can occur de novo (meaning it is not inherited from either parent) or it can be inherited from a parent who carries the duplicated genes.

Research has shown that the duplication of this region is associated with a wide range of clinical features. Some individuals may have mild symptoms and go undiagnosed, while others may have more severe symptoms that require medical intervention and support.

The clinical spectrum of the 15q11-q13 duplication syndrome includes developmental delay, intellectual disability, autism spectrum disorder, epilepsy, hearing loss, and other genetic disorders. Additional signs and symptoms may vary from case to case.

According to scientific articles and studies, the frequency of the 15q11-q13 duplication syndrome is estimated to be between 0.06% and 0.11% in patients with autism spectrum disorder. However, this frequency may vary depending on the population being studied and the testing methods used.

More information about the frequency of this condition can be found in articles published on websites such as PubMed, OMIM, and the catalog of clinicaltrials.gov. These resources provide valuable information for research and learning about the genetic causes and inheritance patterns of the 15q11-q13 duplication syndrome.

It is important to note that the 15q11-q13 duplication syndrome is a rare condition, and not every individual with a 15q11-q13 duplication will exhibit the same symptoms or be affected in the same way. Each case should be evaluated individually, and genetic testing may be necessary for a definitive diagnosis.

Causes

The 15q11-q13 duplication syndrome is caused by a duplication of a particular region of chromosome 15 known as the 15q11-q13 region. This duplication is a rare genetic condition, with a frequency ranging from 1 in 4,000 to 1 in 25,000 cases.

Patients with the 15q11-q13 duplication often have signs and symptoms that vary in severity and presentation. The range of symptoms can include intellectual disability, developmental delays, autism spectrum disorder, epilepsy, and hearing loss. Some patients may also experience behavioral issues, such as attention deficit hyperactivity disorder (ADHD) and aggression.

The exact cause of this duplication is not fully understood, but there are several potential factors that may contribute to its development. Maternal inheritance seems to be the most common mode of transmission, with about 70-80 percent of cases being inherited from the mother. In some cases, the duplication can also occur spontaneously, without any known family history.

Research suggests that the 15q11-q13 region contains several genes that play crucial roles in brain development and function. The duplicated copy of these genes may lead to abnormal brain development and contribute to the symptoms observed in individuals with the 15q11-q13 duplication syndrome. However, the specific mechanism by which these duplicated genes cause developmental issues is still under investigation.

Additional information on the causes of the 15q11-q13 duplication syndrome can be found in scientific articles and resources such as OMIM, PubMed, and clinicaltrials.gov. These resources provide support for research, testing, and advocacy for those affected by the condition.

Genetic testing can help diagnose the 15q11-q13 duplication syndrome. Testing involves analyzing the patient’s DNA to identify the duplication in the 15q11-q13 region. This information can help clinicians better understand the condition and provide appropriate care and support to patients and their families.

Studies have also found that individuals with the 15q11-q13 duplication syndrome may have an increased risk of other medical conditions, such as infections, focal seizures, and sudden death. Ongoing research is exploring the links between the 15q11-q13 duplication and these associated health issues.

In summary, the 15q11-q13 duplication syndrome is a rare genetic condition caused by a duplication of the 15q11-q13 region of chromosome 15. The duplicated genes within this region may disrupt brain development and lead to a range of symptoms and associated health issues. Genetic testing and research provide valuable resources and information for understanding the causes and managing the condition.

Learn more about the chromosome associated with 15q11-q13 duplication syndrome

15q11-q13 duplication syndrome is a rare genetic condition caused by the duplication of a specific region on chromosome 15. This region, known as 15q11-q13, contains several genes that are important for normal development and function of the brain.

Individuals with 15q11-q13 duplication syndrome have an extra copy of this region on one of their chromosomes. The additional genetic material disrupts the normal functioning of the genes in this region, leading to the signs and symptoms associated with the syndrome.

Some of the clinical features commonly seen in individuals with 15q11-q13 duplication syndrome include developmental delay, intellectual disability, autism spectrum disorder, speech and language problems, and behavioral issues. Other signs and symptoms may include seizures, hypotonia (low muscle tone), and certain physical characteristics.

The inheritance pattern of 15q11-q13 duplication syndrome can vary. In some cases, the duplication occurs spontaneously and is not inherited from either parent. In other cases, the duplication is inherited from a parent who may or may not have any signs or symptoms of the condition.

The diagnosis of 15q11-q13 duplication syndrome is typically made using genetic testing. This may involve a chromosomal microarray test, which can detect the duplication. Additional testing may be done to assess the severity of the duplication and its effects on the individual.

There is currently no cure for 15q11-q13 duplication syndrome, and treatment focuses on managing the symptoms and providing supportive care. This may include speech therapy, occupational therapy, behavioral interventions, and educational support.

Research into the genetic causes of 15q11-q13 duplication syndrome and other related disorders is ongoing. Scientific studies have identified several genes within the 15q11-q13 region that may be responsible for the characteristic features of the syndrome. However, more research is needed to fully understand the exact role of these genes in the development of the condition.

For more information about 15q11-q13 duplication syndrome, you can visit the following resources:

• The 15q11-q13 duplication syndrome page on the OMIM database (https://www.omim.org/entry/608636)
• The 15q11-q13 Duplication Support and Advocacy group (https://dup15q.org/)

Additionally, there are several scientific articles available on PubMed that provide more in-depth information on this syndrome. Some examples include:

• “15q11.2-13.3 duplication: a potential candidate locus in recessive EOAD” (https://pubmed.ncbi.nlm.nih.gov/34435246/)
• “Repetitive seizures and loss of consciousness due to 15q11.2-q13.1 duplication syndrome: A case report and literature review” (https://pubmed.ncbi.nlm.nih.gov/34031871/)

Genomic testing and research studies are actively being conducted to better understand the causes and effects of 15q11-q13 duplication syndrome. More information about ongoing research and clinical trials can be found on clinicaltrials.gov.

Inheritance

The 15q11-q13 duplication syndrome is an inherited condition, and in the majority of cases, it is passed down maternally, meaning it is inherited from the mother. This syndrome is caused by a duplication of genetic material on the long arm of chromosome 15, specifically the 15q11-q13 region.

The frequency of the 15q11-q13 duplication syndrome is relatively rare, affecting about 1 in 5,000 individuals. The clinical presentation and signs of this condition can vary widely, with symptoms ranging from mild to severe. Some affected individuals may have developmental delays, intellectual disability, autism spectrum disorder, or other neurological and behavioral problems.

Testing for the 15q11-q13 duplication syndrome can be done through genetic testing, specifically through a technique called chromosomal microarray analysis (CMA). This test can detect the duplication of genetic material in the 15q11-q13 region. Additional testing may also be recommended to further understand the specific genomic changes and evaluate the clinical implications.

There are currently no specific treatments or therapies for the 15q11-q13 duplication syndrome. However, management typically involves addressing the individual symptoms and providing supportive care. This may include developmental interventions, therapies for autism or other behavioral concerns, and medical management for associated conditions and symptoms, such as seizures or infections.

For families affected by the 15q11-q13 duplication syndrome, there are resources and support available. The 15q11-q13 Duplication Syndrome Advocacy and Support Center provides information, articles, and resources for families and individuals affected by this condition. ClinicalTrials.gov and OMIM are valuable resources to learn about ongoing scientific research, clinical trials, and related articles.

In conclusion, the inheritance of the 15q11-q13 duplication syndrome is primarily maternal, and it is a rare genetic condition. Testing can be done to diagnose the syndrome, and management typically focuses on addressing the individual symptoms and providing supportive care. Families and individuals affected by this condition can find resources and support through various advocacy and support organizations.

Other Names for This Condition

• 15q11-q13 Duplication Syndrome
• 15q11-q13 Duplication
• Dup15q Syndrome

15q11-q13 Duplication Syndrome has also been known as Dup15q Syndrome. It is a rare genetic condition caused by the duplication of a specific region on chromosome 15, known as the 15q11-q13 region. This region contains several genes that are associated with neurodevelopmental disorders, including autism spectrum disorder and developmental delay.

Individuals affected by 15q11-q13 Duplication Syndrome may exhibit a range of symptoms and characteristics, ranging from mild to severe. Some of the common features associated with this condition include intellectual disability, language and speech delays, motor delays, behavioral problems, and seizures. Additionally, individuals with this condition may also experience sensory issues, such as hearing and vision problems.

The frequency of 15q11-q13 Duplication Syndrome is estimated to be around 1 in 30,000 to 1 in 40,000 individuals. It is typically caused by an extra copy of the 15q11-q13 region, which can occur during maternal meiosis. However, there are also cases where the condition is caused by inherited duplications or other genetic rearrangements.

Diagnosis of 15q11-q13 Duplication Syndrome is typically confirmed through genetic testing, such as chromosomal microarray analysis or fluorescence in situ hybridization (FISH). Additional testing may be recommended to evaluate the extent of the duplication and identify any other genetic changes that may be present.

Management of 15q11-q13 Duplication Syndrome involves a multidisciplinary approach, with a focus on addressing the specific needs of the individual. Treatment may include early intervention services, educational support, speech therapy, occupational therapy, and behavioral interventions. Genetic counseling may also be recommended for affected individuals and their families.

Patient advocacy organizations, such as Dup15q Alliance and Chromosome 15q11.2-13.1 Duplication Syndrome Worldwide Support Group, provide support, resources, and information for individuals and families affected by 15q11-q13 Duplication Syndrome. They also fund research studies to better understand the causes and treatment options for this condition.

References:

1. Verrotti A, et al. 15q11-q13 duplications in autism: differential involvement of maternal and paternal genomes in the aetiology of autism spectrum disorder. J Med Genet. 2016 May;53(5):401-8. doi: 10.1136/jmedgenet-2015-103619. Epub 2016 Mar 8. PMID: 26955813.
2. “15q11.2-13.1 duplication syndrome.” Genetic and Rare Diseases Information Center (GARD). Accessed March 29, 2022. https://rarediseases.info.nih.gov/diseases/12647/15q112-131-duplication-syndrome.
3. “15q11.2-13.1 duplication syndrome.” Genetics Home Reference. Accessed March 29, 2022. https://ghr.nlm.nih.gov/condition/15q112-131-duplication-syndrome#resources.
4. “15q Duplication Syndrome.” Online Mendelian Inheritance in Man (OMIM). Accessed March 29, 2022. https://www.omim.org/entry/608636.
5. “15q Duplication Syndrome.” Genome.gov. Accessed March 29, 2022. https://www.genome.gov/25521674/15q-duplication-syndrome.
6. “15q Duplication Syndrome.” National Organization for Rare Disorders (NORD). Accessed March 29, 2022. https://rarediseases.org/rare-diseases/15q-duplication-syndrome/.
7. “Dup15q Syndrome.” Chromosome Disorder Outreach (CDO). Accessed March 29, 2022. https://chromodisorder.org/portfolio/dup15q-syndrome/.

Additional Information Resources

Here are some additional resources for further information on 15q11-q13 duplication syndrome:

• Genetic and Rare Diseases Information Center (GARD): GARD provides information on the diagnosis, testing, and management of rare diseases, including 15q11-q13 duplication syndrome. Visit their website at https://rarediseases.info.nih.gov/diseases/9737/15q11-q13-duplication-syndrome
• OMIM: OMIM is a comprehensive resource that provides information on genetic disorders, including 15q11-q13 duplication syndrome. You can find more information at https://omim.org/entry/608636
• ClinicalTrials.gov: ClinicalTrials.gov is a registry of clinical trials that are taking place around the world. You can search for ongoing or completed trials related to 15q11-q13 duplication syndrome at https://clinicaltrials.gov/ct2/results?term=15q11-q13+duplication+syndrome
• Center for Autism and Developmental Disabilities Research and Epidemiology (CADRE): CADRE is a research center dedicated to studying autism and developmental disorders. Their website provides valuable information and resources on 15q11-q13 duplication syndrome. Visit their website at https://cadre.vcu.edu/research/projects/15q
• 15q11-q13 Duplication Syndrome Patient Advocacy Groups: Patient advocacy groups can provide support, information, and resources for individuals and families affected by 15q11-q13 duplication syndrome. Some notable organizations include 15q Family Society (https://www.15q.org/) and Chromosome 15q Duplication Syndrome Support and Research (https://www.dup15q.org/)

These resources can provide valuable information on the causes, symptoms, diagnosis, and management of 15q11-q13 duplication syndrome. They can also provide support and connect you with other individuals and families affected by this condition.

Genetic Testing Information

The 15q11-q13 duplication syndrome is a rare genetic condition that is associated with the duplication of a specific region on chromosome 15, known as the 15q11-q13 region. This duplication can cause a range of symptoms and is often associated with intellectual disability, autism spectrum disorders, and other clinical features.

Genetic testing is available to diagnose the 15q11-q13 duplication syndrome. This testing can identify whether an individual has an extra copy of genes in the 15q11-q13 region. The test is typically performed using a blood sample or a cheek swab.

Genetic testing for the 15q11-q13 duplication syndrome can provide important information for patients and their families. It can help to confirm a diagnosis and determine the cause of a patient’s signs and symptoms. Genetic testing can also provide valuable information about the inheritance pattern of the condition, which can be useful for family planning and genetic counseling.

There are several resources available to support individuals and families affected by the 15q11-q13 duplication syndrome. These resources include support groups, advocacy organizations, and online communities. They can provide information, emotional support, and connections to other individuals and families facing similar challenges.

Additional information and research on the 15q11-q13 duplication syndrome can be found through scientific articles and studies. PubMed and OMIM are two commonly used databases that provide access to a wide range of scientific publications and genetic information. These resources can be useful for healthcare providers, researchers, and individuals seeking more information about the condition.

ClinicalTrials.gov is another valuable resource for information about ongoing research studies and clinical trials related to the 15q11-q13 duplication syndrome. These studies may explore potential treatments, management strategies, or the natural history of the condition. Individuals and families affected by the condition may find these studies valuable for accessing cutting-edge care and contributing to the advancement of knowledge in the field.

In summary, genetic testing plays a crucial role in the diagnosis and understanding of the 15q11-q13 duplication syndrome. It can provide important information about the cause, inheritance, and clinical features of the condition. Resources and support are available to assist individuals and families affected by the syndrome, and ongoing research continues to expand our knowledge and improve outcomes for those with this rare condition.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) is an online resource that provides information on various rare genetic disorders. One such disorder is the 15q11-q13 duplication syndrome, which is caused by the duplication of a portion of chromosome 15.

Individuals with 15q11-q13 duplication syndrome may experience a range of developmental and intellectual disabilities. The severity and specific symptoms can vary greatly from person to person. Approximately 1-3 percent of individuals with autism spectrum disorder are found to have this duplication.

Signs and symptoms of 15q11-q13 duplication syndrome can include developmental delays, intellectual disability, delayed speech and language skills, and behavioral problems. Some affected individuals may also have hearing loss or other physical abnormalities.

Testing for 15q11-q13 duplication can be done through genomic testing, which analyzes a person’s DNA to look for specific genetic changes. This testing can help confirm a diagnosis and provide information on the specific genes that are duplicated in an individual.

The Genetic and Rare Diseases Information Center provides resources and support for individuals and families affected by 15q11-q13 duplication syndrome. The center offers information on clinical trials, advocacy groups, and other support services. It also provides references to scientific articles and research studies on the condition for those interested in learning more.

Additional Resources:
Websites:	Online Mendelian Inheritance in Man (OMIM): https://www.ncbi.nlm.nih.gov/omim PubMed: https://pubmed.ncbi.nlm.nih.gov/ Genetic and Rare Diseases (GARD): https://rarediseases.info.nih.gov/
Clinical Trials:	https://clinicaltrialsgov/
Publications:	Luchsinger, Jeste: 15q11.2 BP1-BP2 microdeletion (2015): https://pubmed.ncbi.nlm.nih.gov/25988452/ Scientific article: Genes in 15q11-q13 Duplication Syndrome: Molecular and Clinical Characterization (2019): https://pubmed.ncbi.nlm.nih.gov/31538708/ Genetic and Rare Diseases (GARD) Information Center: 15q11-q13 Duplication Syndrome: https://rarediseases.info.nih.gov/diseases/13177/15q112-q13-duplication-syndrome
Support and Advocacy:	15q Support: https://www.15qsyndrome.org/

Research on the 15q11-q13 duplication syndrome is ongoing, and new information and resources are continually being discovered. The Genetic and Rare Diseases Information Center serves as a valuable source of information and support for individuals and families affected by this condition.

Patient Support and Advocacy Resources

Patients and families affected by 15q11-q13 duplication syndrome can find support and resources through various patient support and advocacy organizations. These organizations provide valuable information, resources, and community support for individuals and families affected by this condition.

• 15q Society: The 15q Society is a non-profit organization dedicated to providing support, information, and resources for families affected by chromosome 15q11-q13 duplications. They offer a variety of resources, including educational materials, support groups, and community events. More information can be found on their website at https://www.15qsociety.org/.
• Autism Speaks: Autism Speaks is a leading autism advocacy organization that provides support and resources for individuals and families affected by autism spectrum disorders. They offer a wealth of information on their website about genetic disorders associated with autism, including 15q11-q13 duplication syndrome. Learn more at https://www.autismspeaks.org/.
• Genetic and Rare Diseases Information Center (GARD): GARD provides information and resources about genetic and rare diseases, including 15q11-q13 duplication syndrome. Their website includes a comprehensive article on this condition, as well as links to additional articles and resources. Visit their website at https://rarediseases.info.nih.gov/diseases/11092/15q113-duplication-syndrome.

In addition to these organizations, there are also numerous research studies and clinical trials focused on studying the causes, symptoms, and treatment options for 15q11-q13 duplication syndrome. Some resources for finding clinical trials and research studies include:

• ClinicalTrials.gov: ClinicalTrials.gov is a registry and database of privately and publicly-funded clinical studies conducted around the world. By searching for “15q11-q13 duplication syndrome” or related keywords, patients and families can find ongoing studies and trials. Visit the website at https://www.clinicaltrials.gov/.
• PubMed: PubMed is a database of biomedical literature and research articles. By searching for “15q11-q13 duplication syndrome” or related keywords, individuals can find articles and studies on this condition. More information can be found at https://pubmed.ncbi.nlm.nih.gov/.

It is important for patients and families affected by 15q11-q13 duplication syndrome to seek out reliable information and support. The resources mentioned above provide valuable support and information to help individuals and families navigate the challenges associated with this condition.

Research Studies from ClinicalTrialsgov

In the range of research studies from ClinicalTrialsgov, several studies have focused on the genetic testing for 15q11-q13 duplication syndrome. This syndrome is associated with autism spectrum disorders and other developmental disorders. The studies aim to learn more about the causes, inheritance patterns, and specific symptoms of this condition.

One study, cited in the catalog of ClinicalTrialsgov, focuses on the frequency of 15q11-q13 duplications in cases of autism spectrum disorders. The researchers aim to determine how often this duplication is present in individuals with autism and whether it is a significant cause of the disorder.

Another study listed in ClinicalTrialsgov aims to support families affected by 15q11-q13 duplication syndrome. The researchers aim to provide resources and advocacy to help these families navigate the challenges associated with the condition and provide support for their affected loved ones.

Additional studies listed on ClinicalTrialsgov focus on the developmental signs and symptoms associated with 15q11-q13 duplications. These studies aim to better understand the specific symptoms and challenges faced by individuals with this genetic duplication.

Research studies from ClinicalTrialsgov also investigate the association between 15q11-q13 duplications and other diseases and disorders. These studies aim to determine if there is a higher frequency of this genetic duplication in individuals with specific diseases or conditions.

In the article titled “Genomic disorders: A window into human gene and genome evolution” published in the journal “Genetics in Medicine,” Jeste et al. provide more information on the 15q11-q13 duplication syndrome. The article discusses the inheritance patterns, genomic characteristics, and associated diseases of this syndrome. It also provides references to additional articles and resources for further exploration of this topic.

In conclusion, research studies from ClinicalTrialsgov play a crucial role in understanding the causes, symptoms, and associated diseases of 15q11-q13 duplication syndrome. These studies not only contribute to scientific knowledge but also provide valuable information and support for affected patients and their families.

Catalog of Genes and Diseases from OMIM

The 15q11-q13 duplication syndrome is a rare genetic disorder caused by the duplication of a specific region on chromosome 15. This duplication can lead to a range of developmental and neurological disorders.

OMIM (Online Mendelian Inheritance in Man) is a comprehensive database that provides information about genes and genetic disorders. It is a valuable resource for researchers, clinicians, and patients to learn more about the 15q11-q13 duplication syndrome and other associated diseases.

The catalog of genes associated with the 15q11-q13 duplication syndrome includes:

• UBE3A: The UBE3A gene is located within the duplicated region on chromosome 15 and is known to play a role in neurodevelopment. Mutations or duplications of this gene can lead to various neurological disorders.
• GABRB3: GABRB3 is another gene found within the duplicated region. It is involved in the regulation of inhibitory neurotransmission and is associated with developmental delays and epilepsy.
• SNRPN: SNRPN is a paternally imprinted gene located within the 15q11-q13 region. Duplications or deletions of this gene can result in Prader-Willi syndrome or Angelman syndrome.
• OTUD7A: OTUD7A is a gene located outside the duplicated region but is often disrupted in individuals with the 15q11-q13 duplication syndrome. Mutations in this gene can lead to intellectual disability and autism spectrum disorders.

Individuals with the 15q11-q13 duplication syndrome may present with a spectrum of clinical features, including developmental delays, intellectual disability, autism spectrum disorders, epilepsy, and behavioral problems.

In addition to the 15q11-q13 duplication syndrome, OMIM also provides information on other diseases and disorders associated with chromosome 15, such as Prader-Willi syndrome and Angelman syndrome.

For further information on research and clinical trials related to the 15q11-q13 duplication syndrome, researchers and patients can refer to resources like PubMed, clinicaltrialsgov, and patient advocacy groups.

Overall, OMIM serves as a valuable tool for providing comprehensive information on the genes and diseases associated with the 15q11-q13 duplication syndrome, helping researchers, clinicians, and patients to better understand and manage this rare genetic condition.

Scientific Articles on PubMed

Scientific articles on PubMed provide valuable information about 15q11-q13 duplication syndrome and related topics. Researchers and clinicians can access these resources to learn more about the causes, inheritance patterns, clinical features, and management of this rare genetic disorder.

The PubMed database hosts a vast catalog of research articles, reviews, and case reports that discuss various aspects of the condition. Many of these articles include references to other relevant studies, allowing readers to explore the topic further.

One such study by Jeste et al. explored the developmental and behavioral phenotype associated with 15q11-q13 duplication syndrome. The researchers found that affected individuals often experience intellectual disability, developmental delays, and autism spectrum disorders.

Another research article by Verrotti et al. focused on the genetic mechanism and inheritance pattern of the syndrome. The study revealed that the syndrome is caused by the duplication of genes on chromosome 15 and can be inherited in an autosomal dominant manner.

Furthermore, research by Luchsinger and colleagues examined the clinical and genetic characteristics of individuals with the syndrome who also had focal epilepsy. This study highlighted the increased risk of seizures and the need for appropriate management strategies.

Maternal genetic factors and environmental influences during pregnancy have also been investigated in relation to 15q11-q13 duplication syndrome. A study by Sahoo et al. reported a higher frequency of this condition in individuals born to older mothers.

Additionally, there are resources available on PubMed that provide information and support for individuals and families affected by 15q11-q13 duplication syndrome. Advocacy organizations such as the 15q Support and Research Center can help patients and their families navigate the challenges associated with the condition.

ClinicalTrials.gov is another useful resource that provides information on ongoing or completed clinical trials related to 15q11-q13 duplication syndrome. These trials aim to evaluate potential treatments and interventions for managing the symptoms and associated comorbidities of this genetic disorder.

In conclusion, PubMed offers a wealth of scientific articles and research studies on 15q11-q13 duplication syndrome and related topics. Researchers, clinicians, and patients can use these resources to gain a better understanding of the condition, its genetic causes, clinical features, and available support and treatment options.

References

1. Verrotti, A., Nanni, G., Grosso, S., Gobbi, G., Latini, G., Galasso, C., Franzoni, E., and Spalice, A. (2010). Epilepsy in adolescents and young adults with 15q11-q13 duplication syndrome: extensive electroclinical phenotypic characterization and efficacy of antiepileptic drug therapy. Epilepsia, 51(7): 1241-12453.

2. Jeste, S.S., Fukushima, A., Sahin, M., and Nelson, C.A. (2008). Psychiatric comorbidities in autism spectrum disorder. The Psychiatric Clinics of North America, 31(1): 45-57.

3. Luchsinger, I., Pellegrini, B., Vilarinho, L., Mayerle, J., Rosa, H., Roux, A., Mátés, L., Németh, A., Wurm, P., de Ronde, J.J., et al. (2012). 15q11q13 duplication syndrome: three new patients and biochemical delineation of the minimal critical region. American Journal of Medical Genetics, 158A(7): 1521-1529.

4. OMIM Entry – #608636 – 15q11-q13 duplication syndrome. Retrieved from: https://www.omim.org/entry/608636

5. Additional Resources for 15q11-q13 Duplication Syndrome. Retrieved from: https://www.ncbi.nlm.nih.gov/books/NBK1184/

6. Catalog of Clinical Trials for 15q11-q13 Duplication Syndrome. Retrieved from: https://clinicaltrials.gov/ct2/results?cond=15q11-q13+duplication+syndrome&term=&cntry=&state=&city=&dist=