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. FRAXA Research Foundation - Fragile X Nonprofit organization run by parents. Fighting to find a cure for fragile x syndrome and helping Category Health Conditions and Diseases fragile x syndrome......FRAXA Research Foundation funds research aimed at treatments and acure for fragile x syndrome. About Fragile X Symptoms The Cause http://www.fraxa.org/

About Fragile X Symptoms The Cause Inheritance About Fragile X Symptoms The Cause Inheritance ... Breaking News

3. 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.

4. Center For The Study Of Autism fragile x syndrome Written by Stephen M. Edelson, Ph.D. Center for the Study of Autism, Salem, Oregon 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.

5. Fragile X Syndrome Explore this fact sheet on the diagnosis, clinical description and technical details of fragile x syndrome, which causes mental impairment. 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.

6. Facts About Fragile X Syndrome fragile x syndrome Recognition in Young Children fragile x syndrome is the most commonly inherited form of mental retardation. http://www.nichd.nih.gov/publications/pubs/fragilextoc.htm

Home Search Sitemap Contact ... Publications Facts About Fragile X Syndrome Note to Reader Contents Introduction Inheritance Testing for Fragile X Carrier Prenatal Testing ... Top of Page

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

8. CMGS-Fragile X Syndrome/17.12.98 Describing fragile x syndrome.Category Health Conditions and Diseases fragile x syndrome......fragile x syndrome. fragile x syndrome is associated with the presence of a fragilesite on the X chromosome (Xq27.3), termed FraX A (Lubs et al, 1969). http://www.ich.ucl.ac.uk/cmgs/frax98.htm

MRCPath 17.12.98 Fragile X syndrome Fragile X syndrome is associated with the presence of a fragile site on the X chromosome (Xq27.3), termed FraX A (Lubs et al , 1969). It is characterised by mild to severe mental retardation Frequency: ~1/1500 males ~1/2500 females This makes Fragile X the second commonest specific cause of mental retardation after Down syndrome. Clinical features Long face- coarsening of features Large everted ears Macroorchidism in post pubertal males Increased head circumference Hypotonia Behavioural disturbances- hyperactivity, autism Generalised disorder of connective tissues However, there is great variability in the extent of these physical features, with some retarded males showing few of the physical components. This variability makes clinical diagnosis very difficult. Should all mentally retarded individuals be considered as candidates? Inheritance Unique inheritance characteristics for an X-linked disease. Usually X-linked diseases e.g

9. What Is Fragile X? fragile x syndrome is the leading inherited cause of developmental disabilities and mental impairment worldwide. It affects 1 in 2,000 males and 1 in 4,000 females. It is estimated that 1 in 259 females are carries of the premutation. http://www.fraxsocal.org

Saturday, Oct. 5, 2002 declared 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 800 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

10. FRAXA Research Foundation - Fragile X FRAXA Research Foundation funds research aimed attreatments and a cure for fragile x syndrome. http://www.fraxa.org/html/about_cause.htm

About Fragile X Symptoms >The Cause Inheritance ... Family Listserv What Causes Fragile X? In 1991, scientists discovered the gene (called FMR1) that causes fragile X. In individuals who have fragile X syndrome, a defect in FMR1 (a "full mutation") shuts the gene down. Like a defective factory, FMR1 cannot manufacture the protein that it normally makes. Other individuals are carriers: they have a small defect in FMR1 (called a "premutation") but do not show symptoms. Fragile X is inherited. Carrier men (transmitting males) pass the premutation to all their daughters but none of their sons. Each child of a carrier woman has a 50% chance of inheriting the gene. The fragile X premutation can be passed silently down through generations in a family before a child is affected by the syndrome. Genetic Cause of Fragile X The FMR1 gene is located on the long arm of the X chromosome. Within this gene lies a region of DNA which varies in length from one person to another. Ordinarily, this stretch of DNA falls within a range of length that would be considered "normal". In some people, however, this stretch of DNA is somewhat longer; this gene change is called a "premutation". Although a person who carries the premutation does not typically have symptoms of fragile X, the stretch of DNA is prone to further expansion when it is passed from a woman to her children. When the stretch of DNA expands beyond a certain length, the gene is switched off and does not produce the protein that it is normally makes. This gene change is called a "full mutation".

11. The National Fragile X Foundation - Fragile X Syndrome The National Fragile X Foundation informes and educates about the FragileX Syndrome. You are visitor Counter since 228-01. © copyright http://www.fragilex.org/home.htm

You are visitor # since 2-28-01 Site Last Modified Monday, March 24, 2003

12. Carolina Fragile X Project A series of studies examining the impact of fragile x syndrome (FXS) on individuals, families and the agencies that serve them. http://www.fpg.unc.edu/~fx/

a series of studies examining the impact of fragile X syndrome (FXS) FPG Child Development Institute University of North Carolina at Chapel Hill The UNC Neurodevelopmental Disorders Research Center will host a symposium entitled: Mouse Models of Neurodevelopmental Disorders: The Example of Fragile X Syndrome April 8, 2003 1:00-5:00 pm This web site is designed to increase public awareness and understanding of young children with fragile X syndrome (FXS). Visitors to our site can expect to: Learn about the effects of FXS on young children Read summaries of FXS research studies and findings Learn about the experiences of families of children with FXS Better understand the behavior of children with FXS Read about intervention strategies for children with FXS Learn more about services available for children with disabilities Find out how to advocate for services The Carolina Fragile X Project is located at the FPG Child Development Institute , one of the nation's oldest multidisciplinary centers for the study of young children and their families. Research and education activities of the Center focus on child development and health, especially factors that may put children at risk for developmental problems.

13. MSU DNA LAB-genetic Testing HOME Since 1993, tests for cystic fibrosis, hereditary hemochromatosis, apolipoprotein E, fragile x syndrome, and methylenetetrahydrofolate reductase genetic testing. Michigan State University, College of Human Medicine, East Lansing, MI. http://www.phd.msu.edu/DNA/

B240 Life Science Building, East Lansing, MI 48824-1317, Fax: 517-353-8464 Email: dnadiag@msu.edu TESTS OFFERED TEST INFORMATION FOR: Cystic Fibrosis Hereditary Hemochromatosis Apolipoprotein E Genotyping Fragile X Syndrome Methylenetetrahydrofolate reductase Welcome to the MSU DNA Diagnostic Program website! Our program is located on the campus of Michigan State University in the Department of Pediatrics and Human Development College of Human Medicine Since 1993, we have been dedicated to providing quality genetic testing at a reasonable cost. We strive to make available the most recent information regarding the tests we provide and are continually expanding our testing services. Our laboratory director is board certified by the American Board of Medical Genetics. Our staff also includes a Master’s trained genetic counselor and laboratory technicians, all of who are available to assist you with questions regarding our laboratory services. We provide test results and risk estimation based on DNA test results and family history. Abnormal results are promptly called to the referring physician/counselor. Final reports are sent by mail and/or fax. Please choose from the available options for more information.

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

what Home 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.

15. Your Genes, Your Health A multimedia guide to genetic, inherited disorders, and fragile x syndrome. http://vector.cshl.org/ygyh/index.html

16. GeneReviews: Fragile X Syndrome Your browser does not support HTML frames so you must view fragile x syndromein 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.

17. Your Genes, Your Health Offers a DNA Learning Center's multimedia guide to genetic, inherited disorders fragile x syndrome, Marfan syndrome, cystic fibrosis and hemophilia are discussed in detail. http://www.yourgenesyourhealth.org

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! No list menu at left? Get QuickTime Player (TM) is also required.

18. Fragile X Syndrome fragile x syndrome. Table 1. Molecular Genetic Testing Used in fragile x syndrome.Test Method, Mutations Detected, Mutation Detection Rate, Test Availability. http://www.geneclinics.org/profiles/fragilex/details.html

Fragile X Syndrome [FRAXA, Fragile X Mental Retardation, Marker X Syndrome, Martin-Bell Syndrome, FXS] Authors: Robert A Saul, MD, FACMG; Greenwood Genetic Center Jack C Tarleton, PhD, FACMG; Fullerton Genetics Center Initial Posting: 16 June 1998 Last Update 22 November 2002 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 (chromosomal locus Xq27.3). More than 99% of affected individuals have a full mutation in the gene caused by an increased number of CGG trinucleotide repeats ( 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 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. Prenatal testing is possible through molecular genetic testing of DNA from cells obtained by chorionic villus sampling (CVS) or amniocentesis, but should only be undertaken after carrier status has been confirmed and the couple has been counseled regarding the risk of recurrence.

19. Diagnosing And Treating Fragile X Syndrome Health Information Media Publications - Facts About Fragile XSyndrome Diagnosing and Treating fragile x syndrome Individuals http://www.nichd.nih.gov/publications/pubs/sub6.htm

Home Search Sitemap Contact ... Facts About Fragile X Syndrome Diagnosing and Treating Fragile X Syndrome Individuals with Fragile X may have a cluster of physical, behavioral, mental, and other characteristics. These symptoms may vary in number and degree among affected children. In the best of circumstances, early identification of a child with Fragile X and subsequent treatment involves a team of professionals. These might include a speech and language pathologist, an occupational therapist (perhaps even a specialist in sensory integration), a physical therapist, a special education teacher, a genetics counselor, and a psychologist. P hysical Characteristics Males with Fragile X have some common physical characteristics: a long narrow face; large or prominent ears; and macroorchidism (enlarged testicles). More than 80 percent of males with Fragile X develop at least one of these features, but often not until after puberty. Other physical characteristics of males with Fragile X are double-jointed fingers, flat feet, puffy eyelids, and "hollow chest." These physical features may indicate an underlying abnormality of the connective tissue, although no specific connective tissue defect has been detected. Females with Fragile X syndrome do not exhibit most of the physical characteristics found in males with Fragile X, although they often have large or prominent ears.

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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