Fragile X syndrome
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Fragile X syndrome is a genetic condition involving changes in part of the X chromosome.[1] This condition causes a range of developmental problems including learning disabilities and cognitive impairment.[2] It is the most common form of inherited mental retardation in males and a significant cause of mental retardation in females.[1] Fragile X syndrome is caused by a change in the FMR1 gene.[1][2] Fragile X syndrome is inherited in an X-linked dominant pattern.[2]
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- More Detailed Information (Found: 10 Resources)
Links where you can find more general information, comprehensive resources, selected full text journal articles, and news updates
- General
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Genetics Home Reference (GHR) contains a condition summary on Fragile X syndrome. Click on the link to go to GHR and review this summary.
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MedlinePlus, a Web site designed by the National Library of Medicine Web site to help you research your health questions, provides more information about this topic. Click on the link to view this information.
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The National Center for Biotechnology Information (NCBI) was established in 1988 as a national resource for molecular biology information. Click on the link to view information on this topic.
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The National Human Genome Research Institute's (NHGRI) mission encompasses a broad range of studies aimed at understanding the structure and function of the human genome and its role in health and disease. Click on the link to view the information page on this topic.
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The National Organization for Rare Disorders (NORD) is a federation of more than 130 nonprofit voluntary health organizations serving people with rare disorders. Click on the link to view information on this topic.
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The Online Mendelian Inheritance in Man (OMIM) database contains genetics resources that discuss Fragile X syndrome. Click on the link to go to OMIM and review these resources.
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Orphanet is a database dedicated to information on rare diseases and orphan drugs. Access to this database is free of charge. Click on the link to read information on this topic.
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PubMed is a searchable database of medical literature and lists journal articles that discuss Fragile X syndrome. Click on the link to view a sample search on this topic.
- Management Guidelines
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American Academy of Pediatrics Guidelines: Health Supervision for Children with Fragile X
Pediatrics 1996; 98: 297-300
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GeneReviews provides current, expert-authored, peer-reviewed, full-text articles describing the application of genetic testing to the diagnosis, management, and genetic counseling of patients with specific inherited conditions. Click on the link to view the article on this topic.
- Support Groups (Found: 4 Resources)
Groups providing a wide range of services, supportive resources, and information
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The National Organization of Rare Disorders (NORD) has partnered with Inspire.com to launch an online community for people with rare diseases called The NORD Rare Disease Community. This community connects medical patients, family members, caregivers, and professionals. Click on The NORD Rare Disease Community to learn more.
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RareShare is an online social hub dedicated to patients, families and healthcare professionals affected by rare medical disorders. Click on RareShare to learn more.
- Clinical Trials & Research (Found: 1 Resource)
Resources where you may find research studies and clinical trials
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ClinicalTrials.gov lists trials that are studying or have studied Fragile X syndrome. Click on the link to go to ClinicalTrials.gov to read descriptions of these studies.
- Services (Found: 2 Resources)
Links to Web sites that offer services, such as tools to locate specialists, specialty clinics, genetic services, and genetic testing laboratories
- Testing
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The American College of Medical Genetics (ACMG) Laboratory Quality Assurance (Lab QA) Committee has the mission of maintaining high technical standards for the performance and interpretation of genetic tests. In part, this is accomplished by the publication of the document "ACMG Standards and Guidelines for Clinical Genetics Laboratories." These standards and guidelines are designed primarily as an educational resource for clinical laboratory geneticists to help them provide quality clinical laboratory genetic services. To view the Technical Standards and Guidelines for Fragile X syndrome, visit the link above.
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GeneTests lists laboratories offering clinical genetic testing for this condition. Clinical genetic tests are ordered to help diagnose a person or family and to aid in decisions regarding medical care or reproductive issues. Talk to your health care provider or a genetic professional to learn more about your testing options.
- Scientific Conferences (Found: 2 Resources)
Completed and upcoming scientific conferences and programs that have been sponsored by the National Institutes of Health
- Upcoming Conferences
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2009 Triplet Repeat Disorders Gordon Conference, May 31, 2009 - June 5, 2009
Description: The top two priorities of this conference are training and the communication of cutting-edge science in the area of CAG triplet repeat disorders. The focus of this conference is on areas of rapid advancement and latest developments. Speakers have been selected for their expertise, recent contributions to the field, and ability to provide lively presentations. The structured discussion leaders will be instructed to focus on issues that cut across each presentation in a session.
- Past Conferences
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Workshop on Reproduction and the Fragile X Premutation, April 13, 2005 - April 15, 2005
Location: William F. Bolger Center, Potomac, MD
Description: Workshop goals were to examine the basic science and clinical and epidemiological evidence regarding the fragile X premutation and its effects on reproduction.
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The NLM Gateway allows users to search across multiple resources offered on the National Library of Medicine's Web site. Some of these resources may be duplicated in the list of links above. Click on the link to go to the NLM Gateway, and search by condition name.