1. Fragile X Syndrome A Policy Statement from the American College of Medical Genetics. http://www.faseb.org/genetics/acmg/pol-16.htm

Policy Statement: American College of Medical Genetics Fragile X Syndrome: Diagnostic and Carrier Testing Introduction Fragile X syndrome is the most common cause of inherited mental retardation, seen in approximately one in 1,200 males and one in 2,500 females. Males with fragile X syndrome usually have mental retardation and often exhibit characteristic physical features and behavior [Hagerman and Silverman, 1991; Warren and Nelson, 1994]. Affected females exhibit a similar, but usually less severe phenotype. The diagnosis of fragile X syndrome was originally based on the expression of a folate-sensitive fragile site at Xq27.3 (FRAXA) induced in cell culture under conditions of folate deprivation. Cytogenetic analysis of metaphase spreads demonstrates the presence of the fragile site in less than 60% of cells in most affected individuals. The cytogenetic test has limitations, especially in testing for carrier status, and it exhibits a high degree of variability between individuals and laboratories. Also, interpretation of the cytogenetic test for fragile X syndrome is complicated by the presence of other fragile sites in the same region of the X chromosome (FRAXD, FRAXE, and FRAXF). Males and females carrying a premutation are unaffected. Male carriers are referred to as "normal transmitting" males, and they pass on the mutation, relatively unchanged in size, to all of their daughters. These daughters are unaffected, but are at risk of having affected offspring. Variable clinical severity is observed in both sexes. Most, but not all, males with a full mutation are mentally retarded and show typical physical ant behavioral features. Of females with a full mutation, approximately one-third are of normal intelligence, one-third are of borderline intelligence, and one-third are mentally retarded.

2. Fragile X Syndrome Single page on recognition of the condition in young children. http://home.coqui.net/myrna/fragile.htm

Fragile X Syndrome Recognition in Young Children Fragile X syndrome is the most commonly inherited form of mental retardation. Although it is thought to be an X-linked recessive trait with variable expression and incomplete penetrance, 30% of all carrier women are also affected. The syndrome is called “fragile-X” because there exists a fragile site or gap at the end of the long arm of the X-chromosome in lymphocytes of affected patients when grown in a folate deficient medium. Carrier females typically have a 30 to 40% chance of giving birth to a retarded male and a 15 to 20% chance of having a retarded female. Further, there frequently exists a maternal family history for a relative with mental retardation or developmental and learning disabilities. Most studies have dealt with recognition of this syndrome in older children and young adults, but many of the physical features, behavioral characteristics, and family history features are apparent earlier. Prominent parental concerns that might bring such a child to a pediatrician’s attention include: Developmental delay, speech delay, short attention span or hyperactivity, mouthing of objects persisting at an age beyond expected, difficulty in disciplining the child, frequent temper tantrums, autistic-like behaviors such as rocking, talking to oneself, spinning, unusual hand movements, difficulty with transitions, preference for being alone, echolalia, poor eye contact; poor motor coordination; history of vomiting, spitting up or colic during infancy; history of frequent otitis media; self-abusive behavior; hand flapping; drooling persisting beyond expected; hypotonia; increase fighting with others; pica; hand/thumb sucking.

3. What Is Fragile X? Fragile X Association of Southern California promotes public awareness of fragile x syndrome with emphasis on Educatiors and Health Professionals and also supports scientific research. What is Fragile X. syndrome? fragile x syndrome is the most common inherited cause of mental impairment fragile x syndrome appears in children of all ethnic, racial and socio http://www.fraxsocal.org/

October 5, 2003 is National Fragile X Research Day U.S. HOUSE OF REPRESENTATIVES DECLARES OCTOBER 05, 2002 AS NATIONAL FRAGILE X RESEARCH DAY (click on line above to view actual House Resolution) What is Fragile X syndrome? Fragile X syndrome is the most common inherited cause of mental impairment, affecting approximately 1 in 3,600 males and 1 in 4,000 to 6,000 females with the full mutation worldwide. It is estimated that 1 in 250 females and 1 in 700 males are carriers of the premutation. It is second only to Down Syndrome as a cause of mental retardation. Both males and females may be affected by a wide variety of symptoms. Fragile X syndrome appears in children of all ethnic, racial and socio-economic backgrounds. Our Mission Our organization was formed to promote public awareness of Fragile X syndrome with special emphasis on educators and health professionals; provide a forum for families of children with Fragile X to meet and share their ideas, concerns and problems; and support scientific research on Fragile X syndrome. Sign Our Guestbook View Our Guestbook You are visitor since June 5, 1998

4. Fragile X Syndrome fragile x syndrome. Synonyms Martin-Bell Syndrome, Marker X Syndrome, FRAXA, X-Linked Mental Retardation and aimed at treatment of fragile x syndrome and to raise awareness of http://www.familyvillage.wisc.edu/lib_frgx.htm

Fragile X Syndrome Synonyms - Martin-Bell Syndrome, Marker X Syndrome, FRAXA, X-Linked Mental Retardation and Macroorchidism Who to Contact Where to Go to Chat with Others Learn More About It Web Sites ... Search AltaVista for "Fragile X Syndrome" Who to Contact FRAXA Research Foundation, Inc. 45 Pleasant St. Newburyport, MA 01950 Fax: (978) 463-9985 e-mail fraxa@seacoast.com FRAXA supports research aimed at treatment of Fragile X Syndrome and to raise awareness of this disorder, and provides funds for postdoctoral fellowships. They support local groups through their Internet Web site, and will provide parent-to- parent matching for those who wish to share information and live in the same region. Some local chapters have support groups that meet regularly. FRAXA publishes a quartly FRAXA Newsletter , that is included in a $20.00 membership fee. They have available pamplets explaining Fragile X and current treatments. They provide a list of medical centers that test for Fragile X. Where to Go to Chat with Others FRAGILEX This listserv covers issues of interest to families, physicians, researchers, and educators, particularly diagnosis and treatment. There is no cure for fragile X, but participators are encouraged to post medical and educational strategies that they have found helpful. The listserv will also discuss the latest medical research aimed at treatment.

5. FRAXA Research Foundation - Fragile X FRAXA Research Foundation funds research aimed at treatments and a cure for fragile x syndrome. http://www.fraxa.org/

6. Fragile-X Syndrome fragile x syndrome. FRAXA Research Foundation. 45 Pleasant St information on genetic conditions or birth defects. fragile x syndrome Diagnostic and Carrier Testing, when and how to http://www.kumc.edu/gec/support/fragilex.html

Fragile X Syndrome FRAXA Research Foundation 45 Pleasant St. Newburyport, MA 01950 Phone: (978) 462-1866 Fax: (978) 463-9985 Web site: http://www.fraxa.org E-mail: fraxa@seacoast.com or kclapp@fraxa.org Information in English, Japanese, German, Spanish, French or Hebrew National Fragile X Foundation P.O. Box 190488 San Francisco, California 94119 800-688-8765 or 510-763-6030 Fax 510-763-6223 E-mail: natlfx@sprintmail.com Web site: http://www.nfxf.org or http://fragilex.org/ Fragile X Research Foundation of Canada (Fondation Canadienne de Rescherche sur le Syndrome de Fragilite' du Chromosome X), English, French, and Portuguese (including links to other organizations Also see: National organizations information on genetic conditions or birth defects Fragile X Syndrome: Diagnostic and Carrier Testing , when and how to test for fragile-X syndrome Policy Statement, American College of Medical Genetics Fragile X , Society for Neuroscience Brain Briefings, 1998 Fragile X Association of Germany (Online der Interessengemeinschaft Fragiles-X e.V.)

7. X-linked Mental Retardation fragile x syndrome. fragile x syndrome is the most common inherited form of mental retardation currently known Patients with fragile x syndrome have 200 or more copies of the http://www.ncbi.nlm.nih.gov/disease/FMR1.html

This Genes and Disease page has been moved to: Please update your bookmarks. If you are not automatically transported to the new page after 15 seconds, click on this link Genome View on the X chromosome Databases PubMed the literature LocusLink collection of gene-related information OMIM catalog of human genes and disorders Information Fact sheet from the National Institute of Child Health and Human Development, NIH National Fragile X Foundation US-based research, information and support GeneClinics a medical genetics resource FRAGILE X SYNDROME is the most common inherited form of mental retardation currently known. Fragile X syndrome is a defect in the X chromosome and its effects are seen more frequently, and with greater severity, in males than females. In normal individuals, the FMR1 gene is transmitted stably from parent to child. However, in Fragile X individuals, there is a mutation in one end of the gene (the 5' untranslated region), consisting of an amplification of a CGG repeat. Patients with fragile X syndrome have 200 or more copies of the CGG motif. The huge expansion of this repeat means that the FMR1 gene is not expressed, so no FMR1 protein is made. Although the exact function of FMR1 protein in the cell is unclear, it is known that it binds RNA. A similar nucleotide repeat expansion is seen in other diseases, such as Huntington disease. Research in mice has proven helpful in elucidating some of the mechanisms that cause the instability of this gene. Our methods for identifying carriers of Fragile X syndrome have also improved, and further research will help people carrying 'premutations' to avoid having children who have a larger expansion (ie more CGG repeats) in FMR1, and therefore suffer from fragile X syndrome.

8. Index The National Fragile X Foundation informes and educates about the fragile x syndrome. http://www.fragilex.org/

9. FRAXA Research Foundation FRAXA Research Foundation The mission of FRAXA Research Foundation quot;is to support research aimed at treatment of fragile x syndrome. quot; The FRAXA Web site contains information about the http://rdre1.inktomi.com/click?u=http://www.fraxa.org/&y=02862D094C7EC369&am

10. What Is Fragile X Syndrome? What is fragile x syndrome? In addition to mental impairment, fragile x syndrome is associated with a number of physical and behavioral characteristics. http://www.fragilex.org/html/what.htm

Home what What is Fragile X Syndrome? Fragile X syndrome is a hereditary condition which causes a wide range of mental impairment, from mild learning disabilities to severe mental retardation. It is the most common cause of genetically-inherited mental impairment. In addition to mental impairment, fragile X syndrome is associated with a number of physical and behavioral characteristics. There are several tests that can be done to determine if someone has fragile X syndrome and if family members have the potential to transmit the gene for fragile X syndrome. Families, caregivers and medical personnel have found a variety of interventions that are helpful in treating some of the problems associated with fragile X syndrome. The biological cause of fragile X and the pattern of transmission of the disease are complex. Nevertheless, because of recent research, we are beginning to understand the causes and inheritance of this disease. Laws passed in recent years provide enhanced educational opportunities for persons with fragile X syndrome. Because the impact of fragile X syndrome is long-term, planning to address financial and legal issues is critical.

11. Your Genes, Your Health A multimedia guide to genetic, inherited disorders, and fragile x syndrome. http://www.ygyh.org/

Genome , a component of the DNA Interactive web site, features many of the genetic disorders profiled here on YGYH. Visit this new DNALC site to see where these disorders are found in the genomic "book of life." The information within this web site is for educational purposes only, and should not be used as medical advice. A physician should be consulted for any diagnosis and treatment options. Visit the companion site! www.dnaftb.org

12. Center For The Study Of Autism fragile x syndrome. fragile x syndrome, called MartinBell syndrome, is a genetic disorder and is the most common form of inherited mental retardation. http://www.autism.org/fragilex.html

Fragile X Syndrome Written by Stephen M. Edelson, Ph.D. Center for the Study of Autism, Salem, Oregon Fragile X syndrome, called Martin-Bell syndrome, is a genetic disorder and is the most common form of inherited mental retardation. It is a sex-linked genetic abnormality in which a mother is a carrier, transmitting the disorder to her sons. It affects approximately 1 in every 1,000 to 2,000 male individuals, and the female carrier frequency may be substantially higher. Males afflicted with this syndrome typically have a moderate to severe form of intellectual handicap. Females may also be affected but generally have a mild form of impairment. Approximately 15% to 20% of those with Fragile X Syndrome exhibit autistic-type behaviors, such as poor eye contact, hand-flapping or odd gesture movements, hand-biting, and poor sensory skills. Behavior problems and speech/language delay are common features of Fragile X Syndrome. People with Fragile X syndrome also have a number of recognizable physical features, including a high arched palate, strabismus (lazy eye), large ears, long face, large testicles in males, poor muscle tone, flat feet, and sometimes mild, heart valve abnormalities. Although most individuals with Fragile X syndrome have a characteristic 'look' (long face and large ears), there are some who do not have typical features. Many hospitals and laboratories perform blood tests to diagnose Fragile X syndrome. Several treatments are recommended for individuals with this disorder, including mild medications for behavior problems and therapies for speech and language and sensory improvement. Also, families are advised to seek genetic counseling to understand the inheritable nature of Fragile X Syndrome and to discuss with family members the likelihood other individuals or future offspring may have this disorder.

13. Fragile X Syndrome Disease characteristics. fragile x syndrome is characterized by moderate mental retardation in affected of having children with fragile x syndrome and should be offered molecular http://www.geneclinics.org/profiles/fragilex/details.html

Fragile X Syndrome FRAXA, FXS, Fragile X Mental Retardation, Marker X Syndrome, Martin-Bell Syndrome. Includes: Fragile X-Associated Tremor/Ataxia Syndrome (FXTAS)] Authors: Robert A Saul, MD, FACMG Jack C Tarleton, PhD, FACMG About the Authors Initial Posting: 16 June 1998 Last Revision 20 April 2004 Summary Disease characteristics. Fragile X syndrome is characterized by moderate mental retardation in affected males and mild mental retardation in affected females. Diagnosis/testing. The diagnosis of fragile X syndrome rests on the detection of an alteration in the gene . More than 99% of affected individuals have a full mutation in the gene caused by an increased number of CGG trinucleotide repeats methylation of the gene . Both increased trinucleotide repeats and methylation changes in can be detected by molecular genetic testing . Such testing is clinically available. Genetic counseling All mothers of a child with an gene full mutation (expansion carriers of an gene expansion. They and their family members are at increased risk of having children with fragile X syndrome and should be offered molecular genetic testing and recurrence risk counseling based on the results. This counseling is complex and should be provided by a knowledgeable genetics professional.

14. About A community of families in and around the WashingtonBaltimore metro area that have children affected by fragile x syndrome. Includes news, upcoming events, and resources. http://www.mdfragilex.org/

Welcome to the Maryland Fragile X Resource Group Web Site The Maryland Fragile X Resource Group is a community of families in and around the Washington-Baltimore metro area that have children affected by Fragile X Syndrome. We are a very active group providing mutual support and education, promoting awareness of Fragile X and actively participating in funding research on Fragile X. The group was founded in August of 1999 and currently supports 35 families. We welcome all who share this common interest and hope that you find the information presented on this site beneficial. What is Fragile X? Fragile X Syndrome is now recognized as the leading hereditary cause of developmental and learning disabilities. Approximately 1/400 individuals in the general population are believed to carry the gene for the condition. Males are usually more severely affected than females. Boys are typically more severely affected than girls. While most boys have mental retardation, one-half to two-thirds of girls have normal IQ or learning disabilities. Emotional and behavioral problems are common in both sexes. Fragile X is one of the most common inherited diseases. It affects all races and ethnic groups. 80-90% of people with Fragile X are not yet correctly diagnosed.

15. Facts About Fragile X Syndrome Brochure from the NICHD giving an overview of fragile x syndrome, including etiology, symptoms, and treatment of this congenital condition. http://www.nichd.nih.gov/publications/pubs/fragilextoc.htm

Home Search Sitemap Contact ... Publications Facts About Fragile X Syndrome This page has been moved. Please continue on to the Families and Fragile X Syndrome NICHD Home NIH Home DHHS Home ... Top of Page

16. NICHD - Publications On-line Fellowships Research Resources. Health Information Media Publications Facts About fragile x syndrome. This page has been moved http://www.nichd.nih.gov/publications/pubs/Fragilex.htm

Home Search Sitemap Contact ... Publications Facts About Fragile X Syndrome This page has been moved to: http://www.nichd.nih.gov/publications/pubs/fragilextoc.htm NICHD Home NIH Home DHHS Home ... Top of Page

17. CCD: Youth And Family: Fragile X Syndrome From the Victorian Government, Australia. http://hnb.dhs.vic.gov.au/commcare/yafs_yf.nsf/bced7550634b825a4a25676c00482e1b/

18. Fragile X Syndrome Tips for printing. fragile x syndrome X-linked Mental Retardation and Macroorchidism Topics include Titles and fragile x syndrome. FRAXA. FRAXD. FRAXE http://www.ibis-birthdefects.org/start/frafact.htm

Tips for printing Fragile X Syndrome - X-linked Mental Retardation and Macroorchidism About I.B.I.S. Home Search Topics Search all contents ... "In the News" Messages... Questions/comments Report Dead Links S.O.S. - Exchange Join I.B.I.S. ... Etchings Please Explore: Support Groups Professional Associations Key Information Sources Topics include Titles and Fragile X Syndrome FRAXA FRAXD FRAXE FRAXF Fragil X Syndromet [Swedish] Fra X syndrom [German] Marker X syndrome Martin Bell syndrome Sindrome Martin Bell Sindrome X Fragil [Spanish] Sindrome X Fragile [Italian] X Fragile site Folic Acid type X-linked Mental Retardation and macroorchidism X-linked Mental Retardation associated with marXq28 Special Resources Fragile X Syndrome A Selection of Internet Sites [*] Outstanding [P] For Professionals [French] [German] [Italian] [Portuguese] [Spanish] [Swedish] [*][P] Fragile X Syndrome GeneClinics by J Tarleton and RA Saul. " ... characterized by moderate mental retardation in affected males and mild mental retardation in affected females ... all mothers of a child with an FMR1 gene full mutation (expansions >230 trinucletide repeats) are known to be carries of an FMR1 gene expandsion. They and their family members are at increased risk to have children with fragile X syndrome and should be offered DNA-based testing and recurrence risk counseling based on the results. This counseling is extremely complex and should be provided by a knowledgeable genetic professional. Prenatal testing is possible though analysis ... should only be undertaken after carrier status has been ... (1998)."

19. GeneReviews: Fragile X Syndrome Your browser does not support HTML frames so you must view fragile x syndrome in a slightly less readable form. Please follow this link to do so. http://www.geneclinics.org/profiles/fragilex/

Your browser does not support HTML frames so you must view Fragile X Syndrome in a slightly less readable form. Please follow this link to do so.

20. Autistic Behavior Research into the relationship between autistic characteristics and fragile x syndrome (FXS) conducted by Don Bailey and Gary Mesibov of the University of North Carolina at Chapel Hill. Features project goals and summary of findings. http://www.fpg.unc.edu/~fx/Pages/autistic.htm

Research: Autistic Behavior Principal Investigators: Don Bailey, Gary Mesibov Many young children with fragile X syndrome are referred for an autism evaluation before they are ever diagnosed with fragile X due to similar early behavioral symptoms in the two disorders. Based on findings from early work in the longitudinal study, we concluded that research on the early expression of autistic features in young boys with fragile X may help distinguish between this disorder and autism. Collaboration on a study began with Dr. Gary Mesibov, an expert on autism and director of Division TEACCH, a clinical center at UNC specializing in the diagnosis and treatment of persons with autism and communication disorders. Research Goals Assess the extent to which autistic features were evident in a young population of boys with fragile X syndrome; Examine the relationship between ratings of autistic behavior and developmental trajectories of young boys with fragile X syndrome; and Compare the developmental status, functional abilities, and temperament of young boys with fragile X who did not have autism with boys with autism but no fragile X. Methods Participants Boys with FXS participating in the CFXP longitudinal study in 1996-1997 were rated for signs of autistic behavior using the Childhood Autism Rating Scale (CARS) during a developmental assessment using the Battelle Developmental Inventory. A total of 57 ratings were completed on a sample of boys from 24 to 133 months of age.

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