17q12 microduplication syndrome is a rare chromosomal anomaly with variable phenotypic expression and reduced penetrance associated with developmental delay, mild to severe intellectual disability, sp...
Comprehensive, easy-to-understand information about this condition
How we create this content →The documentation surrounding chromosome 17q12 duplication syndrome is limited due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals worldwide. This low prevalence restricts the number of systematic clinical studies and comprehensive characterizations of the condition. Additionally, the variability in symptoms and expressivity complicates the establishment of a standardized clinical profile.
Key clinical features of chromosome 17q12 duplication syndrome include developmental delays and intellectual disabilities, which can range from mild to severe. Neurological symptoms such as seizures and hypotonia are common, alongside behavioral issues that may include autism spectrum disorder. Physical characteristics may involve micrognathia, downslanted palpebral fissures, and brachydactyly. These features occur with varying frequency, indicating a spectrum of expression among affected individuals.
To navigate the complexities of chromosome 17q12 duplication syndrome, consider seeking a specialist in genetics or a neurologist experienced with chromosomal disorders. Genetic counseling may be beneficial, especially for family planning and understanding inheritance patterns. Additionally, while there are no specific patient organizations identified, resources such as the National Organization for Rare Disorders (NORD) at rarediseases.org can provide valuable information and support. Participating in clinical trials may also offer opportunities for access to new research and treatment insights.
Currently, there are no orphan drugs designated for chromosome 17q12 duplication syndrome. However, there is one active clinical trial investigating aspects of the condition. For more information about this trial, you can visit the ClinicalTrials.gov search page at https://clinicaltrials.gov/search?cond=chromosome%2017q12%20duplication%20syndrome. This trial may provide insights into potential treatment options and further understanding of the syndrome.
Actionable guidance for navigating care for chromosome 17q12 duplication syndrome
To navigate the complexities of chromosome 17q12 duplication syndrome, consider seeking a specialist in genetics or a neurologist experienced with chromosomal disorders. Genetic counseling may be beneficial, especially for family planning and understanding inheritance patterns. Additionally, while there are no specific patient organizations identified, resources such as the National Organization for Rare Disorders (NORD) at rarediseases.org can provide valuable information and support. Participating in clinical trials may also offer opportunities for access to new research and treatment insights.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding chromosome 17q12 duplication syndrome is limited due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals worldwide. This low prevalence restricts the number of systematic clinical studies and comprehensive characterizations of the condition. Additionally, the variability in symptoms and expressivity complicates the establishment of a standardized clinical profile.
Key clinical features of chromosome 17q12 duplication syndrome include developmental delays and intellectual disabilities, which can range from mild to severe. Neurological symptoms such as seizures and hypotonia are common, alongside behavioral issues that may include autism spectrum disorder. Physical characteristics may involve micrognathia, downslanted palpebral fissures, and brachydactyly. These features occur with varying frequency, indicating a spectrum of expression among affected individuals.
To navigate the complexities of chromosome 17q12 duplication syndrome, consider seeking a specialist in genetics or a neurologist experienced with chromosomal disorders. Genetic counseling may be beneficial, especially for family planning and understanding inheritance patterns. Additionally, while there are no specific patient organizations identified, resources such as the National Organization for Rare Disorders (NORD) at rarediseases.org can provide valuable information and support. Participating in clinical trials may also offer opportunities for access to new research and treatment insights.
Currently, there are no orphan drugs designated for chromosome 17q12 duplication syndrome. However, there is one active clinical trial investigating aspects of the condition. For more information about this trial, you can visit the ClinicalTrials.gov search page at https://clinicaltrials.gov/search?cond=chromosome%2017q12%20duplication%20syndrome. This trial may provide insights into potential treatment options and further understanding of the syndrome.
Actionable guidance for navigating care for chromosome 17q12 duplication syndrome
To navigate the complexities of chromosome 17q12 duplication syndrome, consider seeking a specialist in genetics or a neurologist experienced with chromosomal disorders. Genetic counseling may be beneficial, especially for family planning and understanding inheritance patterns. Additionally, while there are no specific patient organizations identified, resources such as the National Organization for Rare Disorders (NORD) at rarediseases.org can provide valuable information and support. Participating in clinical trials may also offer opportunities for access to new research and treatment insights.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
The documentation surrounding chromosome 17q12 duplication syndrome is limited due to its extreme rarity, affecting fewer than 1 in 1,000,000 individuals worldwide. This low prevalence restricts the number of systematic clinical studies and comprehensive characterizations of the condition. Additionally, the variability in symptoms and expressivity complicates the establishment of a standardized clinical profile.
Key clinical features of chromosome 17q12 duplication syndrome include developmental delays and intellectual disabilities, which can range from mild to severe. Neurological symptoms such as seizures and hypotonia are common, alongside behavioral issues that may include autism spectrum disorder. Physical characteristics may involve micrognathia, downslanted palpebral fissures, and brachydactyly. These features occur with varying frequency, indicating a spectrum of expression among affected individuals.
To navigate the complexities of chromosome 17q12 duplication syndrome, consider seeking a specialist in genetics or a neurologist experienced with chromosomal disorders. Genetic counseling may be beneficial, especially for family planning and understanding inheritance patterns. Additionally, while there are no specific patient organizations identified, resources such as the National Organization for Rare Disorders (NORD) at rarediseases.org can provide valuable information and support. Participating in clinical trials may also offer opportunities for access to new research and treatment insights.
Currently, there are no orphan drugs designated for chromosome 17q12 duplication syndrome. However, there is one active clinical trial investigating aspects of the condition. For more information about this trial, you can visit the ClinicalTrials.gov search page at https://clinicaltrials.gov/search?cond=chromosome%2017q12%20duplication%20syndrome. This trial may provide insights into potential treatment options and further understanding of the syndrome.
Actionable guidance for navigating care for chromosome 17q12 duplication syndrome
To navigate the complexities of chromosome 17q12 duplication syndrome, consider seeking a specialist in genetics or a neurologist experienced with chromosomal disorders. Genetic counseling may be beneficial, especially for family planning and understanding inheritance patterns. Additionally, while there are no specific patient organizations identified, resources such as the National Organization for Rare Disorders (NORD) at rarediseases.org can provide valuable information and support. Participating in clinical trials may also offer opportunities for access to new research and treatment insights.
Consider asking your healthcare providers these condition-specific questions
Helpful links for rare disease information and support
Inheritance patterns describe how genetic conditions are passed from parents to children.
Research studies investigating treatments and therapies for this condition.
Active Trials
Total Trials
Data from ClinicalTrials.gov Jan 8, 2026
Consider asking your healthcare providers these condition-specific questions
Online Mendelian Inheritance in Man
European rare disease database
Genetic and Rare Diseases Info Center
AI-Generated Content: This summary was generated using AI. Content has been fact-checked. Always consult with qualified healthcare providers for medical guidance.
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