Geometry.Net - Science: Fragile X Syndrome

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

Extractions: 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.
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 syndromeFRAXA Research Foundation funds research aimed at treatments and acure for fragile x syndrome. About Fragile X Symptoms The Cause
http://www.fraxa.org/
Fragile X Syndrome
Single page on recognition of the condition in young children.
http://home.coqui.net/myrna/fragile.htm

Extractions: 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 pediatricians 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.
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

Extractions: 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.
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

Extractions: 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. 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.
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
CCD: Youth And Family: Fragile X Syndrome
From the Victorian Government, Australia.
http://hnb.dhs.vic.gov.au/commcare/yafs_yf.nsf/bced7550634b825a4a25676c00482e1b/
CMGS-Fragile X Syndrome/17.12.98
Describing fragile x syndrome.Category Health Conditions and Diseases fragile x syndromefragile 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
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

Extractions: 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
FRAXA Research Foundation - Fragile X
FRAXA Research Foundation funds research aimed at treatments and a curefor fragile x syndrome. Medication Guide for fragile x syndrome $20.
http://www.fraxa.org/html/involved_publications.htm

Extractions: This is a detailed guide to medications commonly prescribed to help manage symptoms of fragile X syndrome. This 100+ page text is intended to help parents understand the behavioral symptoms of fragile X and how medications act on these symptoms. Reference pages rate each drug's effectiveness, safety, convenience, and cost. The guide is not a medical textbook and does not take the place of a physician; rather, it is designed to serve as background and reference to help parents communicate with their physicians. Also included on the FRAXA CD (see below)
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
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/

Extractions: 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 Masters 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.
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/

Extractions: 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.
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

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

Extractions: 22 November 2002 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.
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

Extractions: 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.
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

Extractions: 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. 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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