21. Policy Statement Health Supervision for Children With fragile x syndrome (RE9626). AMERICAN ACADEMYOF PEDIATRICS. fragile x syndrome Diagnosis, Treatment, and Research. http://www.aap.org/policy/01493.html

Policy Statement Pediatrics Volume 98, Number 2 August, 1996, pp.297-300 Health Supervision for Children With Fragile X Syndrome (RE9626) AMERICAN ACADEMY OF PEDIATRICS Committee on Genetics This set of guidelines is designed to assist pediatricians in caring for children with fragile X syndrome confirmed by DNA analysis ( Table ). Occasionally pediatricians are called on to advise a pregnant woman who has been informed of a prenatal diagnosis of fragile X syndrome. Therefore, guidelines are also offered for this situation. ROUTINE EXAMINATIONS 1. Check for strabismus at 6 to 12 months. 2. Check for mitral valve prolapse.[17] * Obtain an echocardiogram if a murmur or click is present. * Antibiotic prophylaxis can be considered if mitral valve prolapse is identified because of the evidence that connective tissue is not normal in fragile X syndrome.[16,17] The advisability of antibiotic prophylaxis may be controversial unless there is clear evidence of mitral valve regurgitation. Consider consultation with a pediatric cardiologist. 3. Review the personal support available, the emotional status of the parents, and interfamily relationships.

22. Index The National Fragile X Foundation informes and educates about the fragile x syndrome. http://nfxf.org/

23. Fragile X - Fragile X Syndrome - Mental Retardation - Genetic Defects - Autism - Creating a virtual research center in Israel to find a cure.Category Health Conditions and Diseases fragile x syndrome......Fragile X is one of the most common singlegene diseases and the leadingform of autism of known cause. Conquer Fragile X Foundation. http://www.conquerfragilex.org/

Find Out More About Matthew Recent News: Winter 2003 Newsletter Stanford University's Behavioral Neurogenetics Research Center seeks child, adolescent and adult participants for its new Fragile X studies ... Descriptions of projects currently funded by CFXF updated Fragile X is one of the most common single-gene diseases and the leading form of autism of known cause. "No disease should be left unconquered. Scientific opportunity is too great to have research be anything less than a national priority. We applaud the efforts of Conquer Fragile X Foundation to find the cure." Mary Woolley, President Research! America Please Visit Us Often For New Information Donations can be made thru United Way: CFXF #32236 Important Legislation Your browser is not Java capable or Java has been disabled.

24. What Is Fragile X When the number of CGG repeats is between 50 and 200 the individual is a premutationcarrier of fragile x syndrome. Is There a Cure for fragile x syndrome? http://www.conquerfragilex.org/what_is_fragile_x.html

What Is Fragile X? In 1991, scientists discovered the gene (called FMR1) that causes Fragile X. In individuals with Fragile X Syndrome, a defect in FMR1 (a full mutation) shuts the gene down. Like a defective factory, the FMR1 gene cannot manufacture the protein that it normally makes. Some individuals are fragile X carriers; they have a small defect in the FMR1 gene (called a premutation) but do not show symptoms of Fragile X . 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. A DNA blood test identifies both carriers and affected individuals. While the exact prevalence of Fragile X is unknown, recent studies indicate the statistics below: 1 in 2000 boys and 1 in 4000 girls are estimated to be affected.

25. Queensland Fragile X Association About QFXA, news, events, links and contacts. Also information of fragile x syndrome. http://cwpp.slq.qld.gov.au/qldfragilex/

The Fragile X Qld (FXQ) email group was established for families and professionals. email qfxa email webmaster

26. Fragile X Syndrome: What Is It? Fragile X link, DNA Learning Center Link, Concept 15 DNA and proteins are keymolecules of the cell nucleus.Learn the basic chemistry of DNA and proteins. http://www.yourgenesyourhealth.org/ygyh/mason/ygyh.html?syndrome=fragx

27. GenomeLink An introduction of fragile x syndrome, followed by links to articles, clinical trials and support groups. http://www.genomelink.org/fragile

28. X-linked Mental Retardation fragile x syndrome is the most common inherited form of mental retardationcurrently known. fragile x syndrome is a defect in the http://www.ncbi.nlm.nih.gov/disease/FMR1.html

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.

29. ScienceDaily News Release: The Fragile X Syndrome Protein As RNA Distribution Hu These proteins are so critical that the loss of one particular RNA binding protein,FMRP, leads to fragile x syndrome, the most common inherited forms of http://www.sciencedaily.com/releases/2003/02/030206075822.htm

Search Our Archives Keywords: Order by: date relevance More options Get ad-free access with email updates sign up or log in Text size: A A A Welcome Home page About this site Awards, reviews News Summaries Headlines Topics Shop Our stuff Browse books Magazines Software Contribute Register free Post release Edit profile Review hits Advertise Media kit Traffic stats Contact us Previous Story ... Related Stories Next Story Source: University Of Pennsylvania Medical Center Date: The Fragile X Syndrome Protein As RNA Distribution Hub Philadelphia, PA – The process of turning genes into protein makes the insides of cells terribly crowded and complicated places. Signals tell machinery to transcribe the DNA of genes into messenger RNA (mRNA) whose translation into protein has to be coordinated with everything else that is happening within the cell. Fortunately, there are RNA binding proteins to organize mRNAs. These proteins are so critical that the loss of one particular RNA binding protein, FMRP, leads to Fragile X syndrome, the most common inherited forms of mental retardation. Researchers based at the University of Pennsylvania School of Medicine invented a technique called Antibody Positioned RNA Amplification (APRA) to determine the identity of RNA molecules associated with RNA binding proteins. Their findings on FMRP, presented in the February 6th issue of the journal Neuron, further define the complex basis of Fragile X syndrome.

30. ScienceDaily News Release: New Insight Into Fragile X Syndrome: Scientists Ident X mental retardation protein associates with components of the RNAi pathway, suggestingthat the molecular mechanism underlying fragile x syndrome may involve http://www.sciencedaily.com/releases/2002/10/021003081324.htm

Search Our Archives Keywords: Order by: date relevance More options Get ad-free access with email updates sign up or log in Text size: A A A Welcome Home page About this site Awards, reviews News Summaries Headlines Topics Shop Our stuff Browse books Magazines Software Contribute Register free Post release Edit profile Review hits Advertise Media kit Traffic stats Contact us Previous Story ... Related Stories Next Story Source: Cold Spring Harbor Laboratory Date: New Insight Into Fragile X Syndrome: Scientists Identify Possible Link To RNAi Two independent research groups, led by Drs. Haruhiko Siomi (Institute for Genome Research, University of Tokushima, Japan) and Gregory Hannon (Cold Spring Harbor Laboratory, USA) have discovered that the Drosophila version of the human fragile X mental retardation protein associates with components of the RNAi pathway, suggesting that the molecular mechanism underlying fragile X syndrome may involve an RNAi-related process. "It has been our feeling since we became involved in the field several years ago that only through an understanding of the mechanism of RNAi would we be able to understand the biological implications of this process," states Dr. Hannon. Fragile X syndrome is the most common form of hereditary mental retardation, affecting 1 in 4000 males and 1 in 8000 females. Fragile X syndrome is the result of a genetic mutation at one end of the fragile X mental retardation 1 gene (FMR1) that causes the abnormal inactivation of the gene. It is known that the protein encoded by FMR1 the so-called fragile X mental retardation protein (FMRP) binds to RNA and is thought to regulate the expression of specific genes during neural development, but the mode of FMRP action in cells is yet to be defined.

31. Genewatch: Screening For Fragile-X Syndrome [Aug 1997; 42-4] Bandolier Library. search. Genewatch Screening for FragileX Syndrome. ReferenceMurray J, Cuckle H, Taylor G, Hewison J. Screening for fragile x syndrome. http://www.jr2.ox.ac.uk/bandolier/band42/b42-4.html

Bandolier Bandolier Library search Genewatch: Screening for Fragile-X Syndrome HTA report A recently published report commissioned by the HTA programme sets out the current state of knowledge about screening for the fragile-X syndrome. The work reported involved a comprehensive systematic review of over 500 papers on the subject. Its stated purpose was to provide the information needed to decide whether to use DNA testing to screen for the disorder. In this it is, not surprisingly, only partly successful. Most of its recommendations are for further studies because current information isn't adequate to allow rational decisions to be made about future screening strategies. Fragile-X Fragile-X syndrome is the second most common cause of severe mental retardation after Down's syndrome. The latest population prevalence figures are about 1 in 4,000 for males and 1 in 8,000 for females. About 6% of institutionalised individuals with learning difficulties have the syndrome. It was first described in 1969 and the responsible gene, FMR-1, was identified in 1991. In addition to varying degrees of mental retardation the clinical phenotype often includes macro-orchidism in males, abnormal facies with prominent forehead, large jaw and large ears, joint laxity and behavioural problems. The syndrome gets its name from the fact that chromosomal analysis usually reveals a narrowing near the end of the long arm of the X chromosome (Xq27). Fragile-X is one of a small group of genetic disorders where the abnormality is an unstable non-Mendelian mutation with an increased number of copies of a specific repeated trinucleotide sequence. It displays unusual inheritance patterns for an X-linked disease in that males can be phenotypically normal carriers of the pre-mutation (as shown in the Table below, with a comparison with Huntingdon's disease and myotonic dystrophy), and their children are not at an increased risk of the disorder. In contrast the children of female carriers are at an increased risk, since the pre-mutation is less stable and more likely to increase in repeat size in females. Females may be affected, but are usually less severely mentally retarded than affected males.

32. Index In the meantime here is information about fragile x syndrome and The Fragile XSociety. · fragile x syndrome. What causes Fragile X ? Fragile X Families. http://www.fragilex.org.uk/

Welcome to The Fragile X Society At the moment our Home Page is still under construction. In the meantime here is information about Fragile X Syndrome and The Fragile X Society. Fragile X Syndrome What causes Fragile X ? Fragile X Families The Fragile X Society For more information please contact Email info@fragilex.org.uk Write to: The Fragile X Society, 53 Winchelsea Lane, Hastings, East Sussex, TN35 4LG Telephone: The Fragile X Society is a UK registered charity number 1003981.

33. FRAGILE X SYNDROME fragile x syndrome. See Explanatory Notes. Implications of current knowledge ofthe genetics of fragile x syndrome. Genetic testing for fragile X mutations. http://www.medschl.cam.ac.uk/phgu/info_database/diseases/fragile_x/fragilex.asp

FRAGILE X SYNDROME See Explanatory Notes Contents Genetics Implications of current knowledge of the genetics of Fragile X syndrome Genetic testing for Fragile X mutations Genetic screening ... On-line information Fragile X syndrome affects about 1 in 4000 males and 1 in 8000 females. The major features are learning disability of varying severity, behavioural problems such as hyperactivity and autistic tendencies, and physical characteristics including long face, protruding ears, lax joints and (in males) enlarged testes. There is no cure but there is some evidence that treatment of the associated behavioural and educational problems can be beneficial. Genetics Fragile X syndrome is caused by mutation of the FMR-1 gene on the X chromosome . The FMR-1 gene contains a sequence that consists of a variable number of repeats of the trinucleotide CGG. This sequence occurs in a part of the gene that is transcribed but is not translated into protein. The normal number of CGG repeats varies between 5 and about 50 (average around 30). Individuals with fragile X syndrome typically have more than 200 of these repeats, a condition known as a full mutation (FM). The full mutation prevents transcription of the FMR-1 gene, so that none of its protein product is made. Males have only one X chromosome, so if they carry a FM they are always affected. Females have two X chromosomes and the result of a FM in one chromosome can be very variable: about 50% of such females show some symptoms of the syndrome and 20% are severely affected.

34. Fragile X Syndrome - Description, Links And Books Most of the 1 in 1200 boys affected by fragile X suffer from mental retardation,while onehalf to two-thirds of the 1 in 2500 afflicted girls have a normal IQ http://www.isn.net/~jypsy/fragilex.htm

It’s the single most common inherited cause of mental impairment. Symptoms include: Mental impairment, ranging from learning disabilities to mental retardation. Attention deficit and hyperactivity. Anxiety and unstable moods. Autistic-like behaviour. Long face, large ears, flat feet and hyperextensible fingers. For the most part, boys are more severely affected than girls. Most of the 1 in 1200 boys affected by fragile X suffer from mental retardation, while one-half to two-thirds of the 1 in 2500 afflicted girls have a normal IQ and some learning disabilities. Both sexes, however, experience emotional and behaviour problems. Fragile X is one of the most common inherited disorders in the world—partly because it affects all races and ethnic groups equally. And the sad truth is that 80—90% of people with fragile X aren’t even correctly diagnosed. A NEW APPROACH IN PRENATAL DIAGNOSIS OF FRAGILE X SYNDROME Fragile X (FMR-1): DNA ANALYSIS Fragile X Information Fragile X Research Foundation of Canada/Fondation Canadienne de Rescherche sur le Syndrome de Fragilite' du Chromosome X. ... Fragile X Syndrome - by Randi Hagerman, M.D., Children's Hospital, Denver, Colorado Fragile X syndrome chromosome analysis Fragile X Syndrome Information Resource - The Wellness Interactive Network Fragile X Syndrome - Mobile, Alabama, Florida, Mississippi

35. Hospital Practice: Fragile X Syndrome Trinucleotide Repetition and fragile x syndrome STEPHEN T. WARREN Emory University. Clinically,fragile x syndrome is hard to recognize, especially in newborns. http://www.hosppract.com/genetics/9704gen.htm

Molecular Genetics in Clinical Practice Trinucleotide Repetition and Fragile X Syndrome STEPHEN T. WARREN Emory University Insufficiently appreciated as a cause of learning disability and other behavioral problems, fragile X syndrome accounts for almost 10% of inherited mental retardation. Identification of the specific mutation as a dramatic trinucleotide expansion inaugurates an era of accurate diagnosis, and goes far toward explaining the syndrome's inheritance patterns, in which risk varies as the disease descends through a family. Dr. Warren is an investigator at the Howard Hughes Medical Institute and William P. Timmie Professor of Human Genetics, Emory University School of Medicine, Atlanta. Even more oddly, the risk of mental impairment varies with position in a pedigree. Men unaffected by having a fragile X chromosome are called transmitting males because they pass the defective chromosome to all of their daughters, who have almost no risk of mental impairment. In marked contrast, the sons of carrier women have a 76% penetrance, and the daughters a 32% penetrance. In the children of impaired women, the figures are 100% for boys and 56% for girls. In brief, disease expression depends on inheritance from the mother, and as the disease trait descends through a kindred, the proportion of affected boys becomes greater in each generation (Figure 2). No standard type of mutation could have accounted for any such changes. Indeed, the peculiarities resisted all explanation until the mutation was understood. By 1991, fragile X syndrome had been mapped to a small interval marked by induced translocations at the fragile X site in somatic cell hybrids. Intensive investigation of the region disclosed two forms of abnormality in fragile X chromosomes: a span of DNA hypermethylation and also a length variation, soon traced to a great number of repetitions of the trinucleotide CGG. The area affected was a gene now designated

36. The Contact A Family Directory - FRAGILE X SYNDROME printer friendly, fragile x syndrome, However these are rarely obvious in affectedindividuals. 1030% of people with fragile x syndrome develop epilepsy. http://www.cafamily.org.uk/Direct/f33.html

printer friendly FRAGILE X SYNDROME home more about us in your area conditions information ... how you can help search this site Fragile X is the most common identifiable form of inherited learning disability . It has a prevalence of about 1 in 4,000 males and 1 in 8,000 females. The cause is an abnormality just above the tip of the X chromosome's long arm, which may be passed from one generation to the next. Intellectual disability varies from mild to severe. Girls and women who have a fragile X chromosome are often of normal intelligence. However up to a third have learning problems which are usually mild or moderate but can occasionally be severe. Other problems experienced by affected individuals include delayed and distorted speech and language development. There can be difficulties with the social use of language, with continuing speech anomalies, repetitive behaviour, attention deficits and overactivity, and autistic-like features, such as poor eye contact, hand flapping, social anxiety, abnormal shyness and an insistence on routine. Physical features ascribed to fragile X syndrome include a relatively large head, a long face with prominent ears, largish jaw and double-jointedness. However these are rarely obvious in affected individuals. 10-30% of people with fragile X syndrome develop

37. Open Directory - Search Results Fragile X Association of Southern California fragile x syndrome is the leadinginherited cause of developmental disabilities and mental impairment worldwide. http://www.fragilex.com/

Fragile X Association of Southern California - 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 The National Fragile X Foundation - The National Fragile X Foundation informs and educates about the Fragile X Syndrome. http://nfxf.org/ MSU DNA Diagnostic Program - 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/ Your Genes, Your Health - A multimedia guide to genetic, inherited disorders, and Fragile X syndrome. http://vector.cshl.org/ygyh/index.html Mosaiques x fragile - Syndrome de l'x fragile, maladie g©n©tique h©r©ditaire rare avec retard mental, troubles du langage, du comportement, anomalies physiques. http://www.xfragile.org/

38. NIH Guide: NEUROBIOLOGY AND GENETICS OF FRAGILE X SYNDROME NEUROBIOLOGY AND GENETICS OF fragile x syndrome Release Date April 6, 2000 RFAHD00-015 National Institute of Child Health and Human Development (http//www http://grants.nih.gov/grants/guide/rfa-files/RFA-HD-00-015.html

NEUROBIOLOGY AND GENETICS OF FRAGILE X SYNDROME Release Date: April 6, 2000 RFA: HD-00-015 National Institute of Child Health and Human Development ( http://www.nichd.nih.gov ) National Institute of Mental Health ( http://www.nimh.nih.gov http://www.health.gov/healthypeople . ELIGIBILITY REQUIREMENTS Applications may be submitted by domestic and foreign for-profit and non- profit organizations, public and private, such as universities, colleges, hospitals, laboratories, units of State and local governments, and eligible agencies of the Federal government. Foreign institutions and organizations may apply for an R01 grant, but are not eligible to apply for a small grant (R03). Racial/ethnic minority individuals, women, and persons with disabilities are encouraged to apply as Principal Investigators. MECHANISM OF SUPPORT This RFA will use the National Institutes of Health (NIH) Research Project Grant (R01) and the NICHD and NIMH Small Grant (R03) award mechanisms. Information and application instructions for the NICHD Small Grant are available in the NIH Guide for Grants and Contracts at: http://grants.nih.gov/grants/guide/pa-files/PAR-99-126.html

39. Fragile X Syndrome fragile x syndrome. chromosomal abnormality affects males females(1/1000 births); mild familial mental retardation. findings normal http://chorus.rad.mcw.edu/doc/02033.html

CHORUS Collaborative Hypertext of Radiology Multisystem entities Feedback Search fragile X syndrome chromosomal abnormality mild familial mental retardation findings: normal to increased head size macroorchidism protruding ears prominent jaw Michael A. Woo-Ming, MPH - 2 February 1995 Last updated 14 March 2001 Medical College of Wisconsin

40. Fragile X Syndrome - Lucile Packard Children's Hospital fragile x syndrome. We are pleased to inform you that the BNRC atthe Stanford University School of Medicine is conducting a nation http://www.lpch.org/clinicalSpecialtiesServices/COE/BrainBehavior/Psychiatry/fra

Overview Our Team Research and Clinical Trials Anxiety Disorders Clinic ... Sex, Drugs and Aggression: Talking With Teens About Difficult Issues Fragile X Syndrome We are pleased to inform you that the BNRC at the Stanford University School of Medicine is conducting a nation-wide study of the behavioral and biological outcomes of children with fragile X. We are also conducting neuroimaging studies of children with fragile X syndrome in our lab at Stanford University. The principal investigator for these studies, Dr. Allan Reiss, is one of the world's experts in the field of fragile X and has over 15 years of experience working with individuals and their families. These studies are partially funded by a grant from the NIH (National Institutes of Health). For the national outcomes study , we are seeking families in which the mother has a fragile X premutation, one child has the full mutation, and one child is unaffected by fragile X. Both children need to be between the ages of 6 and 18. Families who are unsure of the mother's or children's diagnoses and either have a family history of fragile X or developmental disabilities may be eligible for free DNA testing. Researchers spend a day in the family's home assessing both children and parents. Families with affected daughters or who are of an ethnic minority are encouraged to participate. For more information about this study go to the

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