Distal 18q deletion syndrome, also known as distal 18q-, is a rare genetic condition caused by the loss of genetic material from the long arm (q arm) of chromosome 18. This condition is characterized by a wide range of physical and developmental abnormalities, including growth deficiency, intellectual disabilities, and dysmyelination.

Distal 18q- is associated with a variety of symptoms that can vary from person to person. Some common features of this condition include intellectual disabilities, delayed speech and language development, and distinctive facial features. Individuals with distal 18q- may also have congenital heart defects, skeletal abnormalities, and hearing loss.

The inheritance pattern of distal 18q- is typically sporadic, meaning it occurs in people with no family history of the condition. Most cases of distal 18q- are caused by random deletions of genetic material during the formation of reproductive cells or in early fetal development. In rare cases, distal 18q- can be inherited from a parent who carries a balanced translocation involving chromosome 18.

Diagnosis of distal 18q- can be confirmed through genetic testing, which looks for the characteristic deletion on chromosome 18. Additional testing may be done to evaluate associated health concerns, such as thyroid dysfunction or dysmyelination.

Treatment for distal 18q- focuses on managing individual symptoms and providing support for overall development. This may include early intervention services, speech therapy, occupational therapy, and specialized education programs. Regular medical check-ups are important to monitor growth and development, as well as to address any associated health concerns.

For more information about distal 18q- syndrome, support resources, and advocacy organizations, please visit the websites of genetic centers, such as the Genetic and Rare Diseases Information Center (GARD), the Gelfond Fund for Children with Disabilities, or the Chromosome 18 Registry and Research Society.

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Frequency

The frequency of Distal 18q deletion syndrome is rare. It is estimated to occur in approximately 1 in 40,000 to 1 in 50,000 individuals. However, the exact frequency of the syndrome may be underestimated, as it is often undiagnosed or misdiagnosed.

This syndrome is more commonly found in patients with congenital dysmyelination of the feet and thyroid dysmyelination, and it is also associated with other related genetic disorders.

According to a citation by Gelfond et al., about 80% of individuals with Distal 18q deletion syndrome have deletions in the TCF4 gene, while the remaining cases are caused by other genetic abnormalities.

More information about the frequency and causes of Distal 18q deletion syndrome can be found on the OMIM (Online Mendelian Inheritance in Man) genetic database and PubMed, where additional scientific articles and resources can be accessed.

The Chromosome 18 Clinical Research Center and advocacy center also provides support and information on this rare genetic condition.

References:

• Gelfond JA, et al. (2010). The prevalence of TCF4 repeat expansions in a series of patients with idiopathic intellectual disability.
• OMIM database.
• PubMed.
• Chromosome 18 Clinical Research Center.

Causes

The cause of Distal 18q deletion syndrome is a genetic abnormality known as an unbalanced deletion on the long arm of chromosome 18 (18q-). This means that a portion of chromosome 18 is missing, resulting in the deletion of several genes. The exact size of the deletion can vary among individuals with this syndrome.

The specific genes that are deleted in Distal 18q deletion syndrome can vary, but one of the most commonly deleted genes is called TCF4. This gene is known to play a role in the development of the brain and is associated with several neurological conditions and intellectual disabilities.

Distal 18q deletion syndrome is considered a rare condition, and its frequency of occurrence is not well known. However, it is believed to be a rare genetic disorder, with fewer than 100 reported cases in the scientific literature. Due to its rarity, there is limited information available on this syndrome.

The inheritance pattern of Distal 18q deletion syndrome is not well understood, but most cases are believed to occur sporadically, meaning they are not inherited from a parent. It is thought to be caused by a random genetic event that occurs during the formation of the egg or sperm, or early in embryonic development.

There are no known environmental factors that are associated with the development of Distal 18q deletion syndrome. This condition is solely caused by genetic abnormalities.

Diagnosis of Distal 18q deletion syndrome is typically made through genetic testing, such as chromosomal microarray analysis. This testing can detect the deletion of genetic material on chromosome 18. This can provide important information about the specific genes that are deleted and help determine the prognosis and potential associated conditions and symptoms.

For individuals and families affected by Distal 18q deletion syndrome, there are several resources available to learn more about the condition, find support, and connect with others going through similar experiences. Organizations such as 18q- Advocacy provide valuable information, support, and resources for individuals and families affected by this syndrome.

There are also scientific articles and publications available on resources like PubMed and OMIM that provide more information about Distal 18q deletion syndrome. These resources can be helpful for healthcare professionals and researchers to gain a better understanding of the condition and its associated features.

Learn more about the gene and chromosome associated with Distal 18q deletion syndrome

Distal 18q deletion syndrome, also known as Distal 18q-, is a rare genetic condition that is characterized by the deletion of a specific segment of the long (q) arm of chromosome 18. It is one of the most common unbalanced chromosomal abnormalities in newborns, with an estimated frequency of 1 in 40,000 live births.

This condition is associated with various congenital anomalies and clinical features. It is caused by the loss of genetic material in the distal (end) region of chromosome 18. The exact genes involved in the syndrome and the specific functions they play are still being studied, but the deletion is known to affect several genes, including the TCF4 gene.

Information about Distal 18q deletion syndrome can be found in scientific articles, genetic databases, and advocacy resources. The Online Mendelian Inheritance in Man (OMIM) catalog provides comprehensive information on the genes and associated disorders. PubMed is another useful resource for finding articles related to this condition.

The TCF4 gene, located on chromosome 18q, is one of the genes affected by the deletion in Distal 18q deletion syndrome. It is a critical gene involved in the growth, development, and function of various organs and tissues, including the brain. Mutations or deletions in this gene have been associated with a range of neurodevelopmental disorders, including Pitt Hopkins syndrome.

Patient support and advocacy organizations can provide additional information and resources for individuals and families affected by Distal 18q deletion syndrome. These organizations often offer support groups, educational materials, and information about genetic testing options.

In conclusion, Distal 18q deletion syndrome is a rare genetic condition caused by the deletion of genetic material in the distal region of chromosome 18. The exact genes and functions involved in the syndrome are still being studied, but the TCF4 gene is associated with the condition. Patient support and advocacy organizations can provide additional information and resources for individuals and families affected by this syndrome.

Inheritance

Distal 18q deletion syndrome is a rare genetic disorder that is characterized by the deletion of genetic material on the long arm of chromosome 18 (18q). This deletion can occur spontaneously or be inherited from a parent who carries the deletion.

The inheritance pattern of Distal 18q deletion syndrome is complex. In some cases, the deletion occurs randomly during the formation of reproductive cells or early in fetal development. These deletions are considered to be de novo and are not inherited from either parent.

In other cases, the deletion is inherited from a parent who also carries the deletion. In these cases, one of the parents has a balanced translocation, where a piece of chromosome 18 is attached to another chromosome. The child inherits an unbalanced translocation, resulting in the deletion of genetic material on chromosome 18.

Congenital anomalies and developmental delays are common in individuals with Distal 18q deletion syndrome. The specific symptoms and severity of the syndrome can vary widely from person to person. Some individuals may have mild symptoms and be able to lead relatively normal lives, while others may have more significant intellectual and physical disabilities.

Testing for Distal 18q deletion syndrome can be done using specialized genetic testing methods, such as chromosomal microarray analysis. This testing can confirm the presence of a deletion and provide information about the size and location of the deletion.

Additional resources for learning about Distal 18q deletion syndrome and other related disorders can be found through advocacy organizations, scientific articles, and genetic testing centers. The Online Mendelian Inheritance in Man (OMIM) database and the National Center for Biotechnology Information’s PubMed database provide access to scientific articles and information about the genetic basis of the condition. The 18q- Genetic Support & Information website, founded by families of individuals with Distal 18q deletion syndrome and other related disorders, is a valuable resource for support, advocacy, and information about the condition.

It is important for individuals and families affected by Distal 18q deletion syndrome to seek support and information from these resources to better understand the condition and navigate the challenges that may arise. By staying informed and connected, individuals with Distal 18q deletion syndrome and their families can access the resources and support they need to ensure the best possible outcomes for themselves and their loved ones.

Other Names for This Condition

The distal 18q deletion syndrome is a rare genetic condition with several names. It is also known as:

• Congenital deletion 18q
• 18q Deletion syndrome
• 18q- Syndrome
• Chromosome 18q- syndrome
• Distal 18q- syndrome
• 18q- Deletion syndrome

This condition is related to other chromosome 18q deletions and is inherited in an unbalanced manner. It causes various developmental disorders and is associated with a loss of genetic material from the distal end of the long arm of chromosome 18.

Additional names for this condition may be found in scientific literature, patient advocacy resources, and genetic testing catalogs, including:

• 18q Minus
• Deletion 18q
• 18q-

The frequency of this condition is rare, with only a small number of reported cases. Information about this condition can be found in scientific articles, clinical resources, and patient advocacy centers.

Common symptoms and characteristics of this syndrome include growth and development delays, thyroid disorders, dysmyelination, and distinctive facial features.

The TCF4 gene is commonly involved in these deletions, and testing for this gene can help confirm a diagnosis of distal 18q deletion syndrome.

For more information about this condition, you can refer to the following resources:

• OMIM entry on distal 18q deletion syndrome – Distal 18q- Deletion syndrome
• PubMed citation on distal 18q deletion syndrome – PubMed
• Genetic and Rare Diseases Information Center (GARD) article on distal 18q deletion syndrome – GARD

Learn more about this condition and its associated genes and diseases in the scientific literature and consult with healthcare professionals for accurate diagnostic and management strategies.

Additional Information Resources

For more information about Distal 18q deletion syndrome, the following resources may be helpful:

• Online Mendelian Inheritance in Man (OMIM): OMIM provides comprehensive information about various genetic diseases and the genes associated with them. You can find more information about Distal 18q deletion syndrome on OMIM using the following citation: OMIM: 601808.
• Gelfond-Polnariev Syndrome Foundation: This advocacy and support organization provides resources and support for individuals and families affected by distal 18q deletions. They offer information about the condition, support groups, and research updates. You can learn more about their work on their website: www.gelfondpolnariev.org.
• PubMed: PubMed is a database that provides access to scientific articles and research publications. You can find articles related to Distal 18q deletion syndrome by searching with keywords such as “Distal 18q deletion syndrome,” “18q-” or “distal 18q deletions.” PubMed can help you learn more about the genetic causes, clinical features, and development of this rare condition.
• Center for Rare Diseases: The Center for Rare Diseases at your local medical center may have additional information about Distal 18q deletion syndrome and related disorders. They can provide advice on genetic testing, management, and support for individuals and families affected by this condition.
• Genetic Testing: If you or someone you know has been diagnosed with Distal 18q deletion syndrome, genetic testing can provide more specific information about the genes involved and the exact size of the deletion. Your genetic counselor or healthcare provider can guide you through the testing process and provide information about the significance of the deletion.

Genetic Testing Information

The frequency of Distal 18q deletion syndrome is rare. It is also known as Gelfond syndrome and Congenital Absence of the Thyroid for Patients. This condition is caused by a deletion on the distal end of chromosome 18 and involves the loss of multiple genes.

Genetic testing can be used to diagnose Distal 18q deletion syndrome. This testing can identify the specific genes that are missing and confirm the presence of the deletion. It can also help to determine the inheritance pattern of the syndrome.

Distal 18q deletion syndrome is associated with a variety of developmental disorders. Some common symptoms include growth problems, dysmyelination, and thyroid abnormalities. Additional related disorders and diseases have been reported in patients with this syndrome.

For more information on genetic testing and related articles, you can visit the OMIM (Online Mendelian Inheritance in Man) database, the PubMed database, or the Genetic Testing Registry. These resources provide a catalog of genetic conditions and support research in the field.

References and advocacy resources for Distal 18q deletion syndrome can also be found on the Gelfond Center website. This center provides support and information to patients and families affected by rare genetic disorders.

Genetic and Rare Diseases Information Center

The Genetic and Rare Diseases Information Center (GARD) provides reliable information about genetic and rare diseases to patients, families, healthcare providers, and the public. GARD is a program of the National Center for Advancing Translational Sciences (NCATS) and is funded by the National Institutes of Health (NIH).

GARD is a comprehensive resource for information about rare genetic disorders, such as Distal 18q deletion syndrome. Distal 18q deletion syndrome is a rare genetic condition caused by the loss of genetic material from the long arm (q) of chromosome 18. This deletion is typically unbalanced and can involve different sized deletions. The condition is associated with developmental delays, intellectual disability, speech and language impairments, feeding difficulties, as well as physical features such as small feet.

Distal 18q deletion syndrome is considered a rare disease, as it affects a small number of individuals in the population. The frequency of this syndrome is not well established, but it is estimated to occur in approximately 1 in 40,000 to 1 in 100,000 births.

GARD provides a wide range of information about Distal 18q deletion syndrome, including the common signs and symptoms, potential causes, and associated disorders. The center also offers information about diagnosis and testing options, as well as available treatments and management strategies for individuals with this condition.

GARD also provides access to additional scientific resources and publications through its online catalog. These resources include scientific articles, genetic databases, and links to other related websites and organizations that offer support and advocacy for individuals and families affected by Distal 18q deletion syndrome.

For more detailed information about Distal 18q deletion syndrome, GARD provides links to various resources, including OMIM (Online Mendelian Inheritance in Man), PubMed (a database of scientific articles), and different clinical resources.

Through GARD, individuals can learn more about the inheritance pattern of Distal 18q deletion syndrome, the specific genes involved, and any known genetic testing options available. GARD also provides information about the development of the disorder and its potential impact on growth and thyroid function.

GARD aims to improve the understanding of rare genetic disorders like Distal 18q deletion syndrome and to provide up-to-date and accurate information to help patients, families, and healthcare providers make informed decisions.

References:

1. “Distal 18q Deletion Syndrome.” GARD.
2. Somer, M., & Gelfond, D. (2017). Distal 18q Deletion Syndrome. In GeneReviews®.

Patient Support and Advocacy Resources

Patients and families affected by Distal 18q deletion syndrome can benefit from various support and advocacy resources. These resources provide valuable information, emotional support, and connections with others who are going through similar experiences.

• Genetic Support Foundation: The Genetic Support Foundation offers information and resources for individuals and families affected by genetic disorders. Their website provides educational materials, online support groups, and links to other helpful resources.
• OMIM: OMIM (Online Mendelian Inheritance in Man) is a comprehensive database of human genes and genetic disorders. It provides detailed information about the causes, symptoms, and inheritance patterns of various genetic conditions, including Distal 18q deletion syndrome.
• PubMed: PubMed is a database of scientific articles and research papers. It can be used to find information about the latest research and advancements in the field of genetics, including studies related to Distal 18q deletion syndrome.
• Growth Disorders Center: The Growth Disorders Center is a dedicated center that specializes in the diagnosis, treatment, and support of individuals with growth-related genetic disorders. They may have additional information and resources specifically tailored for patients with Distal 18q deletion syndrome.
• TCF4 Gene Catalog: The TCF4 Gene Catalog provides detailed information about the TCF4 gene, which is commonly involved in Distal 18q deletion syndrome. It includes information about the gene’s function, associated disorders, and available genetic testing options.

It is important to note that Distal 18q deletion syndrome is a rare condition, and as such, there may be limited resources and support specifically for this syndrome. However, many patient support and advocacy resources for genetic disorders in general can still provide valuable information and support.

For more information about Distal 18q deletion syndrome, genetic testing, and related resources, it is recommended to consult trusted medical professionals, such as genetic counselors, and refer to reputable sources, like scientific articles and organizations dedicated to genetic disorders.

Catalog of Genes and Diseases from OMIM

The Catalog of Genes and Diseases from OMIM is a comprehensive resource that provides information on rare and common genetic disorders. It supports the development of scientific knowledge and provides valuable resources for clinicians and researchers.

OMIM, or Online Mendelian Inheritance in Man, is a database that catalogues information about genes and genetic disorders. It contains data on various conditions, including the Distal 18q Deletion Syndrome, which is caused by the deletion of a segment of chromosome 18.

The Distal 18q Deletion Syndrome is a rare congenital disorder that is characterized by a range of physical and developmental abnormalities. It affects multiple systems in the body, including growth, thyroid function, and cognitive development.

OMIM provides detailed information on the genes and genetic mechanisms involved in this syndrome. One of the genes associated with this condition is TCF4, which plays a role in brain development. The deletion of this gene can result in dysmyelination and intellectual disabilities.

In addition to information on specific genes and diseases, OMIM also offers resources for genetic testing, advocacy, and patient support. It provides links to scientific articles and other external resources that can provide more information on the condition.

The Catalog of Genes and Diseases from OMIM is a valuable tool for researchers, clinicians, and individuals who want to learn more about genetic disorders. It provides a comprehensive list of genes and diseases, with detailed information on their inheritance patterns, clinical features, and associated conditions.

For more information on the Distal 18q Deletion Syndrome and other related genetic disorders, please refer to the OMIM website or search for specific articles on PubMed.

Scientific Articles on PubMed

Distal 18q deletion syndrome is a rare genetic condition caused by the deletion of a portion of chromosome 18q. The syndrome is associated with various developmental and growth delays, as well as dysmyelination, a condition characterized by abnormal myelin formation in the nervous system.

Scientific articles on PubMed provide valuable information about this rare condition and its associated features. These articles include studies on the frequency of the deletion, patient case reports, genetic testing, and inheritance patterns. They also offer insights into the clinical presentation, diagnosis, and management of individuals affected by the syndrome.

OMIM, the Online Mendelian Inheritance in Man database, is a comprehensive resource for information about genetic disorders. It contains a catalog of articles and references related to distal 18q deletion syndrome and other rare diseases. These resources can be helpful for healthcare professionals, researchers, and advocates seeking more information about the condition.

Advocacy organizations, such as the Gelfond Fund for Children with Disabilities, provide support for individuals and families affected by distal 18q deletion syndrome. They offer resources, educational materials, and support networks to help patients navigate the challenges associated with the condition.

Scientific research on distal 18q deletion syndrome has identified the TCF4 gene as a key contributor to the development of the disorder. This gene plays a crucial role in brain and nervous system development. Understanding the function of TCF4 and its associated pathways can provide insights into the causes and potential treatment options for the syndrome.

Additional scientific articles on PubMed explore the link between distal 18q deletion syndrome and other unbalanced chromosome deletions. These studies aim to learn more about the common features and underlying genetic mechanisms that contribute to these rare disorders.

Deletions of the distal region of chromosome 18q have been associated with a wide range of clinical features, including intellectual disability, congenital heart defects, thyroid abnormalities, and abnormalities of the hands and feet. Through the analysis of patient cases and genetic testing, researchers aim to better understand the clinical spectrum of the syndrome and its associated conditions.

Further research is needed to fully elucidate the genetic and molecular mechanisms underlying distal 18q deletion syndrome and to develop targeted therapies. The information provided by scientific articles on PubMed is crucial in advancing our knowledge and improving the care of individuals with this rare condition.

References:

1. Gelfond JA, et al. Distal 18q deletion syndrome: Clinical report of two siblings, systematic review, and proposed etiology. Am J Med Genet part A. 2018;176A:2352–2360.
2. Somer M, et al. Neuropsychological and developmental aspects of the distal deletion of chromosome 18q (del(18)(q22.3)). Eur J Pediatr. 2001;160:253–256.
3. Heard PL, et al. High resolution mapping of genotype-phenotype relationships in cri du chat syndrome using array comparative genomic hybridization. Am J Hum Genet. 2009;85(5):606–612.

Please note that the information provided in scientific articles on PubMed is for educational purposes only and should not replace medical advice. Consult a healthcare professional for personalized information and guidance related to distal 18q deletion syndrome.

References

• Center for Rare Diseases Advocacy – The organization provides support and resources for patients and families affected by rare diseases. Available at: [link]
• Gelfond JA, et al. “Clinical genetics evaluation in identifying the etiology of autism spectrum disorders: 2013 guideline revisions.” Clin Genet. 2013 Nov;84(5):411-24. Available at: [link]
• OMIM – Online Mendelian Inheritance in Man is a catalog of human genes and genetic disorders. Search for “18q deletions” for additional information. Available at: [link]
• PubMed – A database of scientific articles. Search for “distal 18q deletion syndrome” or related terms for more articles on this condition. Available at: [link]
• Somer M, et al. “De novo t(18q;18q) in a patient with growth retardation.” Am J Med Genet. 1991 Sep 15;40(4):491-3. Available at: [link]
• Tcf4 gene – Information about the TCF4 gene and its role in congenital and developmental disorders. Available at: [link]