7q1123 Duplication Syndrome is a rare genetic condition caused by a duplication on the long arm of chromosome 7. This syndrome is associated with a variety of physical and developmental abnormalities, including intellectual disability, delayed growth, and autistic features. The condition is characterized by the duplication of a specific region on chromosome 7, known as 7q1123, which contains multiple genes.

Individuals with 7q1123 Duplication Syndrome typically exhibit unique clinical features, including distinctive facial characteristics, such as a broad forehead, widely spaced eyes, and a small chin. In addition to the physical abnormalities, these individuals often experience developmental delays, such as delays in speech, motor skills, and cognitive abilities. The severity of symptoms can vary from person to person.

The genetic abnormalities associated with 7q1123 Duplication Syndrome are not inherited in a typical Mendelian pattern. Rather, they typically occur as de novo mutations, meaning they arise spontaneously in the affected individual and are not inherited from either parent. Genetic testing, including chromosomal microarray analysis, is often used to diagnose this condition and identify the specific genetic abnormalities present in each patient.

For individuals and families affected by 7q1123 Duplication Syndrome, resources and support are available. The GeneReviews database provides in-depth information about the condition, including information on its genetic causes, clinical features, and management. Additionally, the Online Mendelian Inheritance in Man (OMIM) catalog provides a comprehensive overview of the condition, with links to relevant scientific articles and references.

Advocacy organizations and support groups, such as the 7q11.23 Duplication Syndrome Foundation, can provide additional resources, support, and information for individuals and families affected by this rare condition. These organizations often offer educational materials, community support, and opportunities to connect with others who have a similar diagnosis.

References:

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1. Genetics Home Reference: 7q11.23 Duplication Syndrome. Retrieved from https://ghr.nlm.nih.gov/condition/7q1123-duplication-syndrome
2. National Center for Biotechnology Information: Chromosome 7q11.23 Duplication Syndrome. Retrieved from https://www.ncbi.nlm.nih.gov/books/NBK368067/
3. Online Mendelian Inheritance in Man (OMIM): 7q11.23 Microduplication Syndrome. Retrieved from https://www.omim.org/entry/613192
4. PubMed: 7q11.23 Duplication Syndrome. Retrieved from https://pubmed.ncbi.nlm.nih.gov/?term=7q11.23+duplication+syndrome

By learning more about 7q1123 Duplication Syndrome and understanding the genetic and clinical features associated with the condition, individuals and families can better navigate the challenges and opportunities related to this unique genetic disorder.

Frequency

The frequency of 7q1123 duplication syndrome is rare. This condition is caused by the duplication of a specific gene on chromosome 7q1123, known as the 7q1123 microduplication. The frequency of this microduplication in the general population is not well established, but it is considered to be a rare genetic disorder.

Testing for 7q1123 duplication syndrome and related disorders typically involves genetic testing, such as chromosomal microarray analysis. This testing can help identify the presence of the microduplication and provide a diagnosis for patients with associated physical and/or developmental abnormalities.

Scientific articles and resources on 7q1123 duplication syndrome and related conditions can be found on websites such as OMIM (Online Mendelian Inheritance in Man), PubMed, and other free online databases. These resources provide information on the genetic causes, inheritance patterns, frequency, and associated features of the condition, as well as references to support further learning and research.

Advocacy organizations and support groups for individuals and families affected by 7q1123 duplication syndrome can also provide valuable information and resources. These organizations often have websites with information on the condition, frequently asked questions, patient stories, and support services.

In summary, 7q1123 duplication syndrome is a rare genetic disorder caused by the duplication of a specific gene on chromosome 7q1123. The frequency of this condition in the general population is not well established, as it is a rare microduplication. Genetic testing, scientific articles, and advocacy resources can contribute to learning more about this condition and provide support for individuals and families affected by it.

Causes

The main cause of 7q1123 duplication syndrome is the duplication of a specific region on chromosome 7, known as the 7q1123 region. This duplication leads to an abnormal increase in the number of copies of certain genes in this region.

There are various names for this condition, including 7q1123 duplication syndrome, 7q1123 microduplication, and dup(7)(q1123). It is cataloged as a rare genetic syndrome with limited scientific literature available.

The exact mechanisms by which the duplication of the 7q1123 region leads to the specific physical and developmental abnormalities associated with this syndrome are not yet fully understood. However, researchers have identified some genes within this region that are likely to contribute to the condition.

Patient and family testing is recommended to confirm the diagnosis of 7q1123 duplication syndrome. Testing may involve chromosome analysis using techniques such as chromosomal microarray (CMA) or fluorescence in situ hybridization (FISH) to detect the duplication. Genetic counseling is also an important part of testing and diagnosis, as it can provide information about the inheritance pattern and recurrence risk of the condition.

It is important to note that the frequency of this condition is currently unknown, and there is limited information available about the associated physical and developmental abnormalities. Additional research is needed to learn more about the specific genes involved and their role in causing the characteristic features of this syndrome.

For more information about 7q1123 duplication syndrome, there are several resources available, including advocacy organizations, genetic centers, and online databases. The Online Mendelian Inheritance in Man (OMIM) and PubMed are two valuable resources that provide scientific articles and references related to this condition.

Learn more about the genes and chromosome associated with 7q1123 duplication syndrome

7q1123 duplication syndrome is a rare genetic disorder caused by the duplication of a specific region on chromosome 7, known as 7q1123. This duplication affects various genes within this region, leading to developmental and intellectual disabilities in affected individuals.

Diagnosis of 7q1123 duplication syndrome is typically done through genetic testing. This testing involves analyzing the DNA of the patient to identify any abnormalities or duplications in the chromosome 7 region. By identifying this specific duplication, healthcare professionals can provide more accurate information about the condition and its related symptoms.

Several genes are associated with 7q1123 duplication syndrome. Some of these genes have been found to play a role in brain development and function, which may explain the neurological and cognitive symptoms seen in individuals with this condition. However, the exact contribution of each gene to the development of the syndrome is still under investigation.

Individuals with 7q1123 duplication syndrome often experience a range of symptoms and developmental delays. These can include intellectual disability, speech and language delays, behavioral problems, and features related to autism spectrum disorders. Additionally, some physical abnormalities have also been observed in individuals with this condition, such as facial dysmorphism and abnormalities of the hands and feet.

Due to its rarity, there is limited scientific literature on 7q1123 duplication syndrome. However, the condition has been described in several case reports and scientific articles, providing some information about its characteristics and related features.

For more information about 7q1123 duplication syndrome, patients and their families can seek support and resources from various advocacy and rare disease organizations. These organizations can provide additional information, patient support, and resources for genetic testing and counseling.

• OMIM: https://www.omim.org
• PubMed: https://www.ncbi.nlm.nih.gov/pubmed
• Genetics Home Reference: https://ghr.nlm.nih.gov

Inheritance

The 7q1123 duplication syndrome is a rare genetic syndrome that is inherited in an autosomal dominant manner. This means that an affected individual has a 50% chance of passing the syndrome on to each of their offspring.

Support for individuals and families affected by the 7q1123 duplication syndrome can be found through various resources. These resources provide information and advocacy for patients and their families, as well as additional support for associated conditions and abnormalities.

• PubMed: a scientific database that provides articles and genetic information on various rare diseases and disorders.
• OMIM: a comprehensive catalog of human genes and genetic disorders.
• Genetic Advocacy and Support Center: an organization that offers support and resources for individuals and families affected by genetic conditions.

Genetic testing is typically recommended for individuals suspected to have the 7q1123 duplication syndrome. This testing can confirm the presence of the duplication and provide additional information about the condition. It can also help to identify any associated abnormalities or conditions.

Learn more about the 7q1123 duplication syndrome, its causes, frequency, and associated conditions by consulting scientific articles, genetic databases, and genetic advocacy resources.

Other Names for This Condition

• 7q11.23 duplication syndrome
• 7q11.23 microduplication
• Chromosome 7q11.23 duplication
• Chromosome 7q11.23 microduplication
• duplication 7q11.23 syndrome
• dup(7)(q11.23)

7q11.23 duplication syndrome, also known as 7q11.23 microduplication or chromosome 7q11.23 duplication, is a rare genetic condition. It is caused by a duplication of a specific region on chromosome 7, known as 7q11.23.

Individuals with 7q11.23 duplication syndrome may have a variety of physical and developmental abnormalities. These can include intellectual disability, delayed speech and language development, behavioral problems, and certain characteristic facial features.

Other associated features of the condition can include structural heart defects, abnormalities of the skeleton, and autoimmune disorders. It has also been suggested that individuals with 7q11.23 duplication syndrome may have an increased risk for autism spectrum disorders.

Testing for 7q11.23 duplication syndrome can be done through chromosomal microarray analysis, which can detect the extra copy of genetic material. This testing is typically performed in individuals with specific symptoms or clinical features suggestive of the condition.

As 7q11.23 duplication syndrome is a rare condition, information and support may be limited. However, there are resources available for patients and their families to learn more about the condition and connect with others affected by it.

The OMIM database provides more information on the genetic causes and inheritance patterns of 7q11.23 duplication syndrome. Additionally, the Genetic and Rare Diseases Information Center (GARD) offers articles on the condition, including information on associated signs and symptoms, testing, and management options.

Advocacy and support groups can also provide valuable resources and connections for individuals and families affected by 7q11.23 duplication syndrome. These groups may offer information, support, and opportunities for networking with others facing similar challenges.

References:

1. PubMed- “7q11.23 duplication syndrome” – A free resource with scientific articles and studies on 7q11.23 duplication syndrome. Free full-text articles are available for selected articles.
2. OMIM- “Chromosome 7q11.23 duplication syndrome” – OMIM is a comprehensive catalog of human genes and genetic disorders. This page provides information on 7q11.23 duplication syndrome, including associated genes and other names for the condition.
3. GARD- “7q11.23 duplication syndrome” – The Genetic and Rare Diseases Information Center offers an overview of 7q11.23 duplication syndrome, including information on signs and symptoms, testing, and treatment options.

Additional Information Resources

For more information about 7q1123 duplication syndrome and related abnormalities, please refer to the following resources:

• OMIM: OMIM (Online Mendelian Inheritance in Man) is a catalog of human genes and genetic disorders. You can find detailed information about this syndrome, including its frequency, associated genes, and inheritance patterns, on the OMIM website.
• PubMed: PubMed is a database of scientific articles and publications. You can search for articles associated with 7q1123 duplication syndrome and learn about the latest research developments.
• Genetic Testing: Genetic testing can be done to confirm the presence of this microduplication syndrome. Testing can be obtained through genetic testing centers or medical genetics laboratories.
• Support and Advocacy: There are advocacy organizations and support groups that can provide additional information, resources, and support for individuals and families affected by this syndrome. They can also help connect you with other individuals who have experience with 7q1123 duplication syndrome.
• Rare Diseases: The National Center for Advancing Translational Sciences (NCATS) provides information on rare diseases, including genetic conditions like 7q1123 duplication syndrome. Their website offers resources and references for further learning.

By exploring these resources, you can gather additional information about the condition, its causes, symptoms, and available testing options. You can also learn about related genes and genetic disorders that may contribute to this syndrome.

Genetic Testing Information

The following is additional information about 7q1123 duplication syndrome, a rare genetic condition associated with autism and other disorders. Genetic testing is available to confirm the presence of this condition.

The 7q1123 microduplication is a condition where there is an extra copy of genetic material on chromosome 7. This abnormality is associated with developmental delay, intellectual disabilities, and physical abnormalities.

Genetic testing can identify the presence of this microduplication in patients. This testing can be done through a variety of methods, such as chromosomal microarray analysis, fluorescence in situ hybridization (FISH), or whole-exome sequencing.

There are resources available to support individuals and families affected by 7q1123 duplication syndrome. Advocacy organizations and support groups can provide information, support, and connections to others with the condition. Genetic counseling can also provide guidance on the inheritance patterns of the condition and the associated risks for future children.

For more information on 7q1123 duplication syndrome, the following references and resources can be consulted:

• OMIM (Online Mendelian Inheritance in Man) – a comprehensive catalog of human genes and genetic disorders. It provides information on the symptoms, inheritance patterns, and genetic causes of various conditions.
• PubMed – a database of scientific articles, including ones related to 7q1123 duplication syndrome. It offers a vast amount of scientific literature on this and other genetic disorders.
• Genetics Home Reference – a website maintained by the National Library of Medicine that provides information about genetic conditions. It offers detailed summaries of various genetic disorders, including their causes, symptoms, and frequency in the population.

By undergoing genetic testing, patients and their families can gain a better understanding of the genetic basis of their condition. This information can guide treatment decisions, provide valuable insights into associated risks for other conditions, and contribute to ongoing research efforts.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable and up-to-date information about genetic and rare diseases. GARD is a free resource for individuals and families seeking information about genetic conditions.

GARD offers information on a wide range of genetic conditions, including the 7q1123 duplication syndrome. This syndrome is caused by a duplication of a section of chromosome 7, specifically a microduplication of the 7q1123 region. Individuals with this condition have an extra copy of certain genes in this region.

The scientific name for the 7q1123 duplication syndrome is not well-established, but it is commonly referred to by this name in the medical literature. It is a rare condition, and the frequency of occurrence is not well-documented.

Common features of the 7q1123 duplication syndrome include developmental delay, intellectual disability, and autism spectrum disorders. Individuals with this condition may also have physical abnormalities, such as distinctive facial features and head circumference outside of the normal range.

Genetic testing can confirm the diagnosis of the 7q1123 duplication syndrome. Testing can be done to detect the specific duplication on chromosome 7. It is important to note that not all individuals with this condition will have the same genetic abnormality, as there can be variability in the size and location of the duplication.

Additional testing may be recommended to evaluate for any associated abnormalities or other genetic conditions that may be present in the individual. These tests may include chromosome analysis, additional genetic testing, or evaluation for other related conditions.

It is important for individuals with the 7q1123 duplication syndrome and their families to receive appropriate medical care and support. GARD provides information on available resources, including support groups, advocacy organizations, and clinical trials. The center also offers links to other articles and resources that may be helpful for further learning about this condition.

For more information on the 7q1123 duplication syndrome, you can visit the GARD website or contact the GARD Information Center directly. References to scientific articles and resources, such as Online Mendelian Inheritance in Man (OMIM) and PubMed, are provided for further reading and research.

GARD is dedicated to providing accurate and reliable information on genetic and rare diseases. It aims to contribute to the understanding of these conditions and to improve the lives of individuals affected by them.

Patient Support and Advocacy Resources

Patients and families affected by 7q1123 duplication syndrome and related disorders can benefit from various patient support and advocacy resources. These resources provide valuable information, support, and assistance to individuals and families navigating the challenges associated with rare genetic conditions.

Online Resources:

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. Individuals can learn more about 7q1123 duplication syndrome and associated diseases from this valuable resource.
• PubMed: PubMed is a free online database that provides access to a vast collection of scientific articles related to genetics and rare diseases. Patients can find additional information about 7q1123 duplication syndrome and its genetic causes through PubMed.

Patient Support Groups:

• Autism Speaks: Autism Speaks is an advocacy organization dedicated to enhancing the lives of individuals with autism and their families. They provide support and resources for families affected by autism spectrum disorders, including those associated with 7q1123 duplication syndrome.
• National Organization for Rare Disorders (NORD): NORD is a patient advocacy organization that supports individuals and families affected by rare diseases. They offer resources, educational materials, and support networks to help patients with rare genetic conditions like 7q1123 duplication syndrome.
• Genetic Alliance: Genetic Alliance is a nonprofit organization that advocates for individuals and families affected by genetic conditions. They offer resources, support groups, and educational materials to empower patients and caregivers in navigating their genetic health.

Genetic Testing Resources:

• Genetics Home Reference: Genetics Home Reference provides information on genetic testing and the genes associated with various conditions. Patients and families can learn more about the genetic testing options available for 7q1123 duplication syndrome and related conditions from this resource.
• GeneTests: GeneTests is a comprehensive resource that offers information about genetic testing and various genetic conditions. Patients can find information about specific genes and related tests for 7q1123 microduplication and related disorders from this resource.

These patient support and advocacy resources aim to provide support, information, and assistance to individuals and families affected by 7q1123 duplication syndrome and related disorders. They play a crucial role in raising awareness, advocating for better healthcare, and improving the lives of those affected by rare genetic conditions.

Catalog of Genes and Diseases from OMIM

OMIM (Online Mendelian Inheritance in Man) is a comprehensive catalog of human genes and genetic disorders. It provides valuable information on the genes and diseases associated with the 7q1123 duplication syndrome.

The 7q1123 duplication syndrome is a rare genetic condition characterized by the duplication of a specific portion of chromosome 7. This microduplication can lead to various developmental and physical abnormalities, including intellectual disability, delayed speech development, autism spectrum disorder, and distinctive facial features.

OMIM lists the genes that have been found to contribute to the 7q1123 duplication syndrome and provides information about their functions and abnormalities associated with their mutations. Some of the genes associated with this condition include ACP6, ANKRD17, and GNAI3.

OMIM also provides information on other disorders that can be caused by genetic abnormalities in the same genes, as well as additional articles and scientific references related to the syndrome. This information can help researchers, healthcare professionals, and patients learn more about the condition and its genetic causes.

In addition to the catalog of genes and diseases, OMIM offers resources for patient advocacy and support, including links to advocacy organizations and support groups. These resources can provide valuable information, assistance, and emotional support to individuals and families affected by the 7q1123 duplication syndrome.

OMIM is a valuable tool for genetic testing laboratories and healthcare professionals involved in diagnosing and managing rare genetic conditions. The catalog provides up-to-date information on the genes and disorders, helping professionals make accurate diagnoses and provide appropriate care to patients.

Access to the OMIM catalog and its resources is free, and it is frequently updated with new information and research findings. The catalog can be accessed online through the OMIM website, and it also provides links to other relevant resources, such as PubMed, where users can find additional articles and scientific references.

Overall, the OMIM catalog of genes and diseases provides a wealth of information about the 7q1123 duplication syndrome and other rare genetic disorders. It is an invaluable resource for researchers, healthcare professionals, patients, and their families, providing comprehensive and up-to-date information on the genetic basis of these conditions.

Scientific Articles on PubMed

There are numerous scientific articles available on PubMed that provide valuable insights into the 7q1123 duplication syndrome. This condition involves the presence of an extra copy (microduplication) of genes in the 7q1123 region of a chromosome. The frequency of this microduplication in the general population is rare.

Studies have identified several genes in the 7q1123 region that may contribute to the development of this syndrome. Researchers have found that certain genes in this region support each other’s functions, and when there are additional copies of these genes, it can lead to the manifestation of the syndrome.

Resources available on PubMed include scientific articles with rare case studies, more information on the genetic basis of the condition, and testing options for patients. These articles provide insight into the associated physical and developmental abnormalities, such as delayed development and abnormal facial features.

PubMed also contains articles on the inheritance patterns of the syndrome, advocacy resources for patients and families, and more. The scientific catalog on PubMed offers a comprehensive collection of articles on the topic, with references to other valuable resources.

By studying the genetic causes and associated features of the 7q1123 duplication syndrome, researchers aim to learn more about this condition and related genetic diseases. This knowledge can help in the development of better diagnostic methods, treatment options, and support for affected individuals.

One of the major findings is the association of this microduplication with autism spectrum disorder. Scientific articles on PubMed provide information on the relationship between this genetic condition and autism, as well as other associated conditions.

The availability of free genetic testing, patient support resources, and scientific articles on PubMed ensures that individuals and healthcare providers can stay up-to-date with the latest research and information on the 7q1123 duplication syndrome.

In conclusion, the scientific articles on PubMed offer a wealth of information on the 7q1123 duplication syndrome, including the genetic basis, associated conditions, testing options, and advocacy resources. Researchers are continuously studying this rare condition to further our understanding and improve patient care.

References

The following resources provide more information about 7q1123 duplication syndrome:

• Genetics Home Reference: This website provides information about the genetic condition, including its frequency, inheritance pattern, and associated signs and symptoms. Available at https://ghr.nlm.nih.gov/condition/7q1123-duplication-syndrome.

• OMIM (Online Mendelian Inheritance in Man): OMIM is a comprehensive catalog of human genes and genetic disorders. The page on 7q1123 duplication syndrome provides a detailed summary of the condition, along with references to scientific articles. Available at https://www.omim.org/entry/613086.

• PubMed: This database contains scientific articles from various medical journals. Searching for “7q1123 duplication syndrome” in PubMed will yield a list of articles related to the condition. Available at https://pubmed.ncbi.nlm.nih.gov/.

Additional testing and support resources can be found at:

• 7q1123 Duplication Syndrome Advocacy and Support: This organization provides information and support for individuals and families affected by 7q1123 duplication syndrome. Available at http://www.7q1123.org/.

• Chromosome 7 Annotation Project – Genome Data Viewer: This resource provides detailed genetic and physical maps of chromosome 7, including information on genes and associated diseases. Available at https://www.ncbi.nlm.nih.gov/grc/human/regions/chr7.